AGER — 86 ClinVar variants

All ClinVar germline AGER variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

2 Conflicting · 5 Benign · 13 Likely benign · 66 Uncertain significance

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

⚑ Evidence disagreements 65

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 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 55

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

Predictors split 8

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

All AGER variants

Conflicting classifications of pathogenicity 2

p.Cys301Ser Single submitter ⚠
p.Trp271Arg Single submitter ⚠

Benign 5

p.Ala2= Single submitter
p.Arg314His Single submitter
p.Arg369Gln Single submitter
p.Arg77Cys Single submitter ⚠
p.Leu343= Single submitter

Likely benign 13

c.692-9A>C Single submitter
p.Ala354= Single submitter
p.Ala375Val Single submitter
p.Arg198Gln Single submitter
p.Asn81= Single submitter
p.Glu325= Single submitter
p.Glu384= Single submitter
p.Gly309Arg Single submitter
p.Gly339= Single submitter
p.His308= Single submitter
p.Pro227Leu Single submitter
p.Pro46= Single submitter
p.Val276Met Single submitter

Uncertain significance 66

p.Ala19Gly Single submitter ⚠
p.Ala355Thr Single submitter ⚠
p.Ala375Ser Single submitter ⚠
p.Ala41Val Single submitter ⚠
p.Ala6Val Single submitter ⚠
p.Ala76Val Single submitter ⚠
p.Arg116Leu Single submitter ⚠
p.Arg178Ser Single submitter ⚠
p.Arg198Trp Single submitter ⚠
p.Arg218Gln Single submitter ⚠
p.Arg29Gln Single submitter ⚠
p.Arg29Trp Single submitter ⚠
p.Arg385Cys Single submitter ⚠
p.Arg57Gln Single submitter ⚠
p.Arg57Trp Single submitter ⚠
p.Arg98Gln Single submitter ⚠
p.Asn389His Single submitter ⚠
p.Asn54Ser Single submitter ⚠
p.Asn81Ser Single submitter ⚠
p.Cys144Trp Single submitter ⚠
p.Cys38Trp Single submitter ⚠
p.Gln100Leu Single submitter ⚠
p.Glu371Asp Single submitter ⚠
p.Glu392Asp Single submitter ⚠
p.Glu393Lys Single submitter ⚠
p.Glu398Lys Single submitter ⚠
p.Gly148Arg Single submitter
p.Gly246Asp Single submitter ⚠
p.Gly247Glu Single submitter ⚠
p.Gly252Ser Single submitter ⚠
p.Gly402Glu Single submitter ⚠
p.Gly403Glu Single submitter ⚠
p.Gly4Arg Single submitter ⚠
p.Gly56Ser Single submitter ⚠
p.Gly70Cys Single submitter ⚠
p.Gly70Ser Single submitter ⚠
p.His180Tyr Single submitter ⚠
p.His305Arg Single submitter ⚠
p.Ile126Ser Single submitter ⚠
p.Ile291Thr Single submitter ⚠
p.Ile30Val Single submitter ⚠
p.Leu159Phe Single submitter ⚠
p.Leu159Val Single submitter ⚠
p.Leu185Phe Single submitter ⚠
p.Phe206Ser Single submitter ⚠
p.Pro202Ser Single submitter ⚠
p.Pro224His Single submitter ⚠
p.Pro267Ser Single submitter ⚠
p.Pro281Leu Single submitter ⚠
p.Pro289Arg Single submitter ⚠
p.Pro293Leu Single submitter ⚠
p.Pro323Ser Single submitter ⚠
p.Pro71Thr Single submitter ⚠
p.Ser307Ile Single submitter ⚠
p.Ser74Gly Single submitter ⚠
p.Thr340Asn Single submitter ⚠
p.Trp51Gly Single submitter ⚠
p.Val141Met Single submitter
p.Val242Met Single submitter ⚠
p.Val255Ile Single submitter ⚠
p.Val261Asp Single submitter ⚠
p.Val63Gly Single submitter ⚠
p.Val75Met Single submitter ⚠
c.822+49G>T No assertion criteria COPD, severe early onset
c.992-6G>A No assertion criteria COPD, severe early onset
p.Gly82Ser No assertion criteria COPD, severe early onset ⚠