AMER3 — 159 ClinVar variants

All ClinVar germline AMER3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

1 Likely pathogenic · 17 Likely benign · 141 Uncertain significance

Full AMER3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 103

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 39

The independent predictors disagree with each other — read with care.

All AMER3 variants

Likely pathogenic 1

p.Arg746Ter No assertion criteria esophageal atresia/tracheoesophageal fistula

Likely benign 17

p.Ala179Thr Single submitter
p.Ala226Ser Single submitter
p.Ala599Val Single submitter
p.Arg124Gln Single submitter
p.Arg196Gln Single submitter
p.Arg601Gln Single submitter
p.Arg748His Single submitter
p.Arg839His Single submitter ⚠
p.Glu180Lys Single submitter
p.Gly52Asp Single submitter
p.Gly628Ser Single submitter
p.Gly761Arg Single submitter
p.Gly788Ser Single submitter
p.Pro204Leu Single submitter
p.Pro88Leu Single submitter
p.Ser687Pro Single submitter
p.Pro137= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 141

p.Ala175Val Single submitter ⚠
p.Ala25Thr Single submitter ⚠
p.Ala345Ser Single submitter ⚠
p.Ala402Asp Single submitter ⚠
p.Ala557Thr Single submitter ⚠
p.Ala55Thr Single submitter ⚠
p.Ala579Thr Single submitter ⚠
p.Ala588Pro Single submitter ⚠
p.Ala599Thr Single submitter ⚠
p.Ala632Thr Single submitter ⚠
p.Ala682Thr Single submitter ⚠
p.Ala70Thr Single submitter ⚠
p.Arg124Trp Single submitter ⚠
p.Arg125Cys Single submitter ⚠
p.Arg130Cys Single submitter ⚠
p.Arg130His Single submitter ⚠
p.Arg161Gln Single submitter ⚠
p.Arg167Gln Single submitter ⚠
p.Arg315Cys Single submitter ⚠
p.Arg318Cys Single submitter ⚠
p.Arg318Ser Single submitter ⚠
p.Arg322Cys Single submitter ⚠
p.Arg322His Single submitter ⚠
p.Arg414Gly Single submitter ⚠
p.Arg513Cys Single submitter ⚠
p.Arg519His Single submitter ⚠
p.Arg538Ser Single submitter ⚠
p.Arg565Thr Single submitter ⚠
p.Arg5Thr Single submitter ⚠
p.Arg659Gly Single submitter ⚠
p.Arg679His Single submitter ⚠
p.Arg709His Single submitter ⚠
p.Arg746Gln Single submitter ⚠
p.Arg796His Single submitter ⚠
p.Arg802Trp Single submitter ⚠
p.Arg833His Single submitter ⚠
p.Arg90Gln Single submitter ⚠
p.Asn630Thr Single submitter ⚠
p.Asp216Ala Single submitter ⚠
p.Asp219Gly Single submitter ⚠
p.Asp225Asn Single submitter ⚠
p.Asp23Glu Single submitter ⚠
p.Asp428Asn Single submitter ⚠
p.Asp598Val Single submitter ⚠
p.Asp715Asn Single submitter ⚠
p.Asp715Glu Single submitter ⚠
p.Asp772His Single submitter ⚠
p.Cys676Tyr Single submitter ⚠
p.Gln320Glu Single submitter ⚠
p.Gln54Arg Single submitter ⚠
p.Gln821Lys Single submitter ⚠
p.Glu267Lys Single submitter ⚠
p.Glu293Gln Single submitter ⚠
p.Glu349Gln Single submitter ⚠
p.Glu467Lys Single submitter ⚠
p.Glu50Lys Single submitter ⚠
p.Glu780Asp Single submitter ⚠
p.Glu822Lys Single submitter ⚠
p.Gly100Ala Single submitter ⚠
p.Gly109Glu Single submitter ⚠
p.Gly194Trp Single submitter ⚠
p.Gly209Glu Single submitter ⚠
p.Gly370Asp Single submitter ⚠
p.Gly43Arg Single submitter ⚠
p.Gly515Val Single submitter ⚠
p.Gly52Ala Single submitter ⚠
p.Gly535Glu Single submitter ⚠
p.Gly546Ala Single submitter ⚠
p.Gly580Arg Single submitter ⚠
p.Gly586Arg Single submitter ⚠
p.Gly593Ala Single submitter ⚠
p.Gly611Ala Single submitter ⚠
p.Gly628Ala Single submitter ⚠
p.Gly652Trp Single submitter ⚠
p.Gly763Cys Single submitter ⚠
p.Gly76Arg Single submitter ⚠
p.Gly823Ala Single submitter ⚠
p.Gly823Arg Single submitter ⚠
p.Gly824Ala Single submitter ⚠
p.Gly824Glu Single submitter ⚠
p.Gly841Ser Single submitter ⚠
p.His131Tyr Single submitter ⚠
p.His787Pro Single submitter ⚠
p.Ile146Val Single submitter ⚠
p.Leu218Val Single submitter ⚠
p.Leu230Phe Single submitter ⚠
p.Leu263Val Single submitter ⚠
p.Leu395Phe Single submitter ⚠
p.Leu550Pro Single submitter ⚠
p.Leu815Val Single submitter ⚠
p.Leu861Met Single submitter ⚠
p.Lys144Arg Single submitter ⚠
p.Lys154Arg Single submitter ⚠
p.Lys170Thr Single submitter ⚠
p.Lys182Arg Single submitter ⚠
p.Met136Thr Single submitter ⚠
p.Met616Thr Single submitter ⚠
p.Phe201Leu Single submitter ⚠
p.Pro134Ala Single submitter ⚠
p.Pro203Leu Single submitter ⚠
p.Pro24Gln Single submitter ⚠
p.Pro272Leu Single submitter ⚠
p.Pro287Leu Single submitter ⚠
p.Pro377Leu Single submitter ⚠
p.Pro413Leu Single submitter ⚠
p.Pro41Ala Single submitter ⚠
p.Pro429Leu Single submitter ⚠
p.Pro47Ser Single submitter ⚠
p.Pro521Thr Single submitter ⚠
p.Pro524Leu Single submitter ⚠
p.Pro645Thr Single submitter ⚠
p.Pro696Leu Single submitter ⚠
p.Pro795Arg Single submitter ⚠
p.Ser120Tyr Single submitter ⚠
p.Ser176Leu Single submitter ⚠
p.Ser176Trp Single submitter ⚠
p.Ser243Ile Single submitter ⚠
p.Ser246Leu Single submitter ⚠
p.Ser258Arg Single submitter ⚠
p.Ser281Asn Single submitter ⚠
p.Ser480Asn Single submitter ⚠
p.Ser618Pro Single submitter ⚠
p.Ser622Leu Single submitter ⚠
p.Ser686Arg Single submitter ⚠
p.Ser703Arg Single submitter ⚠
p.Ser703Asn Single submitter ⚠
p.Ser805Tyr Single submitter ⚠
p.Ser99Phe Single submitter ⚠
p.Thr307Ile Single submitter ⚠
p.Thr369Ile Single submitter ⚠
p.Thr455Met Single submitter ⚠
p.Thr500Ser Single submitter ⚠
p.Thr541Ile Single submitter ⚠
p.Thr592Ile Single submitter ⚠
p.Val238Ala Single submitter ⚠
p.Val238Met Single submitter ⚠
p.Val253Ala Single submitter ⚠
p.Val317Met Single submitter ⚠
p.Val764Ile Single submitter ⚠
p.Val770Met Single submitter ⚠
p.Val825Ile Single submitter ⚠