AMY2B — 105 ClinVar variants
All ClinVar germline AMY2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
1 Benign · 8 Likely benign · 96 Uncertain significance
Full AMY2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMY2B p.Ala121Thr Uncertain significance Single submitter
- AMY2B p.Ala339Val Uncertain significance Single submitter
- AMY2B p.Ala40Val Uncertain significance Single submitter
- AMY2B p.Ala433Thr Uncertain significance Single submitter
- AMY2B p.Arg282Cys Uncertain significance Single submitter
- AMY2B p.Arg282Leu Uncertain significance Single submitter
- AMY2B p.Arg358His Uncertain significance Single submitter
- AMY2B p.Arg402Gln Uncertain significance Single submitter
- AMY2B p.Arg413Cys Uncertain significance Single submitter
- AMY2B p.Arg45Pro Uncertain significance Single submitter
- AMY2B p.Asn152Tyr Uncertain significance Single submitter
- AMY2B p.Asn20Ser Uncertain significance Single submitter
- AMY2B p.Asn395Asp Uncertain significance Single submitter
- AMY2B p.Asn395Ser Uncertain significance Single submitter
- AMY2B p.Asn476Ser Uncertain significance Single submitter
- AMY2B p.Asn61Ile Uncertain significance Single submitter
- AMY2B p.Asp368Val Uncertain significance Single submitter
- AMY2B p.Asp92Gly Uncertain significance Single submitter
- AMY2B p.Cys43Arg Uncertain significance Single submitter
- AMY2B p.Glu499Asp Uncertain significance Single submitter
- AMY2B p.Gly161Glu Uncertain significance Single submitter
- AMY2B p.Gly205Ala Uncertain significance Single submitter
- AMY2B p.Gly264Arg Uncertain significance Single submitter
- AMY2B p.Gly321Trp Uncertain significance Single submitter
- AMY2B p.Gly462Ala Uncertain significance Single submitter
- AMY2B p.Gly51Glu Uncertain significance Single submitter
- AMY2B p.Gly89Ala Uncertain significance Single submitter
- AMY2B p.His216Asn Uncertain significance Single submitter
- AMY2B p.His401Arg Uncertain significance Single submitter
- AMY2B p.Ile10Phe Uncertain significance Single submitter
- AMY2B p.Ile10Val Uncertain significance Single submitter
- AMY2B p.Ile494Leu Uncertain significance Single submitter
- AMY2B p.Leu292Arg Uncertain significance Single submitter
- AMY2B p.Lys272Met Uncertain significance Single submitter
- AMY2B p.Met217Leu Uncertain significance Single submitter
- AMY2B p.Phe12Val Uncertain significance Single submitter
- AMY2B p.Phe363Tyr Uncertain significance Single submitter
- AMY2B p.Phe3Leu Uncertain significance Single submitter
- AMY2B p.Phe4Leu Uncertain significance Single submitter
- AMY2B p.Phe502Leu Uncertain significance Single submitter
- AMY2B p.Pro243His Uncertain significance Single submitter
- AMY2B p.Ser58Pro Uncertain significance Single submitter
- AMY2B p.Thr21Ala Uncertain significance Single submitter
- AMY2B p.Trp359Cys Uncertain significance Single submitter
- AMY2B p.Trp359Leu Uncertain significance Single submitter
- AMY2B p.Val144Phe Uncertain significance Single submitter
- AMY2B p.Val29Ala Uncertain significance Single submitter
Predictors split 50
The independent predictors disagree with each other — read with care.
- AMY2B p.Ala15Thr Uncertain significance Single submitter
- AMY2B p.Ala490Ser Uncertain significance Single submitter
- AMY2B p.Ala65Thr Uncertain significance Single submitter
- AMY2B p.Arg176Cys Uncertain significance Single submitter
- AMY2B p.Arg25Gln Uncertain significance Single submitter
- AMY2B p.Arg267Gln Uncertain significance Single submitter
- AMY2B p.Arg282His Uncertain significance Single submitter
- AMY2B p.Arg361Thr Uncertain significance Single submitter
- AMY2B p.Arg413His Uncertain significance Single submitter
- AMY2B p.Asn235Ile Uncertain significance Single submitter
- AMY2B p.Asn285Ser Uncertain significance Single submitter
- AMY2B p.Asn378Tyr Uncertain significance Single submitter
- AMY2B p.Asn90Asp Uncertain significance Single submitter
- AMY2B p.Asp188Glu Uncertain significance Single submitter
- AMY2B p.Asp332Val Uncertain significance Single submitter
- AMY2B p.Asp448Glu Uncertain significance Single submitter
- AMY2B p.Gln16Pro Uncertain significance Single submitter
- AMY2B p.Gln419His Uncertain significance Single submitter
- AMY2B p.Glu196Val Uncertain significance Single submitter
- AMY2B p.Glu297Lys Uncertain significance Single submitter
- AMY2B p.Glu499Lys Uncertain significance Single submitter
- AMY2B p.Gly11Arg Uncertain significance Single submitter
- AMY2B p.Gly253Asp Uncertain significance Single submitter
- AMY2B p.Gly254Arg Uncertain significance Single submitter
- AMY2B p.Gly286Arg Uncertain significance Single submitter
- AMY2B p.Gly458Arg Uncertain significance Single submitter
- AMY2B p.Gly475Asp Uncertain significance Single submitter
- AMY2B p.His200Gln Uncertain significance Single submitter
- AMY2B p.Ile194Met Uncertain significance Single submitter
- AMY2B p.Ile204Asn Uncertain significance Single submitter
- AMY2B p.Ile225Val Likely benign Single submitter
- AMY2B p.Ile442Met Uncertain significance Single submitter
- AMY2B p.Ile468Leu Uncertain significance Single submitter
- AMY2B p.Leu181Val Uncertain significance Single submitter
- AMY2B p.Leu31Met Uncertain significance Single submitter
- AMY2B p.Leu455Val Uncertain significance Single submitter
- AMY2B p.Leu5Arg Uncertain significance Single submitter
- AMY2B p.Lys187Gln Uncertain significance Single submitter
- AMY2B p.Lys193Glu Uncertain significance Single submitter
- AMY2B p.Pro256Ser Uncertain significance Single submitter
- AMY2B p.Pro49Ser Uncertain significance Single submitter
- AMY2B p.Pro49Thr Uncertain significance Single submitter
- AMY2B p.Ser160Thr Uncertain significance Single submitter
- AMY2B p.Ser452Thr Uncertain significance Single submitter
- AMY2B p.Thr391Ala Uncertain significance Single submitter
- AMY2B p.Thr450Ala Uncertain significance Single submitter
- AMY2B p.Tyr291His Uncertain significance Single submitter
- AMY2B p.Val104Phe Uncertain significance Single submitter
- AMY2B p.Val249Ile Uncertain significance Single submitter
- AMY2B p.Val484Ile Uncertain significance Single submitter
All AMY2B variants
Benign 1
- p.Leu31= Multiple submitters
Likely benign 8
- p.Asp261= Single submitter
- p.His200Arg Single submitter
- p.His491Tyr Single submitter
- p.Ile225Val Single submitter ⚠
- p.Ile66Val Single submitter
- p.Ser118Cys Single submitter
- p.Ser234Thr Single submitter
- p.Val373Ile Single submitter
Uncertain significance 96
- p.Ala121Thr Single submitter ⚠
- p.Ala15Thr Single submitter ⚠
- p.Ala339Val Single submitter ⚠
- p.Ala40Val Single submitter ⚠
- p.Ala433Thr Single submitter ⚠
- p.Ala490Ser Single submitter ⚠
- p.Ala65Thr Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg282Cys Single submitter ⚠
- p.Arg282His Single submitter ⚠
- p.Arg282Leu Single submitter ⚠
- p.Arg358His Single submitter ⚠
- p.Arg361Thr Single submitter ⚠
- p.Arg402Gln Single submitter ⚠
- p.Arg413Cys Single submitter ⚠
- p.Arg413His Single submitter ⚠
- p.Arg45Pro Single submitter ⚠
- p.Asn152Tyr Single submitter ⚠
- p.Asn20Ser Single submitter ⚠
- p.Asn235Ile Single submitter ⚠
- p.Asn285Ser Single submitter ⚠
- p.Asn378Tyr Single submitter ⚠
- p.Asn395Asp Single submitter ⚠
- p.Asn395Ser Single submitter ⚠
- p.Asn476Ser Single submitter ⚠
- p.Asn61Ile Single submitter ⚠
- p.Asn90Asp Single submitter ⚠
- p.Asp188Glu Single submitter ⚠
- p.Asp332Val Single submitter ⚠
- p.Asp368Val Single submitter ⚠
- p.Asp448Glu Single submitter ⚠
- p.Asp92Gly Single submitter ⚠
- p.Cys43Arg Single submitter ⚠
- p.Gln16Pro Single submitter ⚠
- p.Gln419His Single submitter ⚠
- p.Glu196Val Single submitter ⚠
- p.Glu297Lys Single submitter ⚠
- p.Glu499Asp Single submitter ⚠
- p.Glu499Lys Single submitter ⚠
- p.Gly11Arg Single submitter ⚠
- p.Gly161Glu Single submitter ⚠
- p.Gly205Ala Single submitter ⚠
- p.Gly253Asp Single submitter ⚠
- p.Gly254Arg Single submitter ⚠
- p.Gly264Arg Single submitter ⚠
- p.Gly286Arg Single submitter ⚠
- p.Gly321Trp Single submitter ⚠
- p.Gly458Arg Single submitter ⚠
- p.Gly462Ala Single submitter ⚠
- p.Gly475Asp Single submitter ⚠
- p.Gly51Glu Single submitter ⚠
- p.Gly89Ala Single submitter ⚠
- p.His200Gln Single submitter ⚠
- p.His216Asn Single submitter ⚠
- p.His401Arg Single submitter ⚠
- p.Ile10Phe Single submitter ⚠
- p.Ile10Val Single submitter ⚠
- p.Ile194Met Single submitter ⚠
- p.Ile204Asn Single submitter ⚠
- p.Ile442Met Single submitter ⚠
- p.Ile468Leu Single submitter ⚠
- p.Ile494Leu Single submitter ⚠
- p.Leu181Val Single submitter ⚠
- p.Leu292Arg Single submitter ⚠
- p.Leu31Met Single submitter ⚠
- p.Leu455Val Single submitter ⚠
- p.Leu5Arg Single submitter ⚠
- p.Lys187Gln Single submitter ⚠
- p.Lys193Glu Single submitter ⚠
- p.Lys272Met Single submitter ⚠
- p.Met217Leu Single submitter ⚠
- p.Phe12Val Single submitter ⚠
- p.Phe363Tyr Single submitter ⚠
- p.Phe3Leu Single submitter ⚠
- p.Phe4Leu Single submitter ⚠
- p.Phe502Leu Single submitter ⚠
- p.Pro243His Single submitter ⚠
- p.Pro256Ser Single submitter ⚠
- p.Pro49Ser Single submitter ⚠
- p.Pro49Thr Single submitter ⚠
- p.Ser160Thr Single submitter ⚠
- p.Ser452Thr Single submitter ⚠
- p.Ser58Pro Single submitter ⚠
- p.Thr21Ala Single submitter ⚠
- p.Thr391Ala Single submitter ⚠
- p.Thr450Ala Single submitter ⚠
- p.Trp359Cys Single submitter ⚠
- p.Trp359Leu Single submitter ⚠
- p.Tyr291His Single submitter ⚠
- p.Val104Phe Single submitter ⚠
- p.Val144Phe Single submitter ⚠
- p.Val249Ile Single submitter ⚠
- p.Val29Ala Single submitter ⚠
- p.Val484Ile Single submitter ⚠