CAGE1 — 101 ClinVar variants
All ClinVar germline CAGE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
9 Likely benign · 92 Uncertain significance
Full CAGE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAGE1 p.Ala132Thr Uncertain significance Single submitter
- CAGE1 p.Ala469Val Uncertain significance Single submitter
- CAGE1 p.Ala566Thr Uncertain significance Single submitter
- CAGE1 p.Ala605Val Uncertain significance Single submitter
- CAGE1 p.Ala622Thr Uncertain significance Single submitter
- CAGE1 p.Ala704Thr Uncertain significance Single submitter
- CAGE1 p.Ala716Ser Uncertain significance Single submitter
- CAGE1 p.Arg475Gln Uncertain significance Single submitter
- CAGE1 p.Arg508Ile Uncertain significance Single submitter
- CAGE1 p.Asn165Thr Uncertain significance Single submitter
- CAGE1 p.Asn174Lys Uncertain significance Single submitter
- CAGE1 p.Asn2Asp Uncertain significance Single submitter
- CAGE1 p.Asn376Asp Uncertain significance Single submitter
- CAGE1 p.Asn40Lys Uncertain significance Single submitter
- CAGE1 p.Asn635Ser Uncertain significance Single submitter
- CAGE1 p.Asn91Ser Uncertain significance Single submitter
- CAGE1 p.Asp135Val Uncertain significance Single submitter
- CAGE1 p.Asp159Gly Uncertain significance Single submitter
- CAGE1 p.Asp21Asn Uncertain significance Single submitter
- CAGE1 p.Asp302Asn Uncertain significance Single submitter
- CAGE1 p.Cys228Ser Uncertain significance Single submitter
- CAGE1 p.Cys82Tyr Uncertain significance Single submitter
- CAGE1 p.Gln457His Uncertain significance Single submitter
- CAGE1 p.Gln549Arg Uncertain significance Single submitter
- CAGE1 p.Glu251Asp Uncertain significance Single submitter
- CAGE1 p.Glu253Ala Uncertain significance Single submitter
- CAGE1 p.Glu301Lys Uncertain significance Single submitter
- CAGE1 p.Glu359Ala Uncertain significance Single submitter
- CAGE1 p.Glu76Gly Uncertain significance Single submitter
- CAGE1 p.Glu807Lys Uncertain significance Single submitter
- CAGE1 p.His17Gln Uncertain significance Single submitter
- CAGE1 p.His195Tyr Uncertain significance Single submitter
- CAGE1 p.Ile413Val Uncertain significance Single submitter
- CAGE1 p.Ile52Val Uncertain significance Single submitter
- CAGE1 p.Ile707Thr Uncertain significance Single submitter
- CAGE1 p.Ile783Met Uncertain significance Single submitter
- CAGE1 p.Leu118Ser Uncertain significance Single submitter
- CAGE1 p.Leu728Pro Uncertain significance Single submitter
- CAGE1 p.Lys206Glu Uncertain significance Single submitter
- CAGE1 p.Lys338Asn Uncertain significance Single submitter
- CAGE1 p.Lys529Glu Uncertain significance Single submitter
- CAGE1 p.Lys585Asn Uncertain significance Single submitter
- CAGE1 p.Lys585Glu Uncertain significance Single submitter
- CAGE1 p.Lys7Glu Uncertain significance Single submitter
- CAGE1 p.Met405Lys Uncertain significance Single submitter
- CAGE1 p.Met428Thr Uncertain significance Single submitter
- CAGE1 p.Met624Thr Uncertain significance Single submitter
- CAGE1 p.Met824Ile Uncertain significance Single submitter
- CAGE1 p.Pro192Ser Uncertain significance Single submitter
- CAGE1 p.Pro223Thr Uncertain significance Single submitter
- CAGE1 p.Pro262Ala Uncertain significance Single submitter
- CAGE1 p.Pro287Ser Uncertain significance Single submitter
- CAGE1 p.Pro821Leu Uncertain significance Single submitter
- CAGE1 p.Ser10Leu Uncertain significance Single submitter
- CAGE1 p.Ser172Pro Uncertain significance Single submitter
- CAGE1 p.Ser190Arg Uncertain significance Single submitter
- CAGE1 p.Ser266Pro Uncertain significance Single submitter
- CAGE1 p.Ser292Arg Uncertain significance Single submitter
- CAGE1 p.Ser29Gly Uncertain significance Single submitter
- CAGE1 p.Ser611Tyr Uncertain significance Single submitter
- CAGE1 p.Ser619Thr Uncertain significance Single submitter
- CAGE1 p.Ser723Arg Uncertain significance Single submitter
- CAGE1 p.Thr528Met Uncertain significance Single submitter
- CAGE1 p.Thr60Ser Uncertain significance Single submitter
- CAGE1 p.Tyr240Cys Uncertain significance Single submitter
- CAGE1 p.Tyr770Cys Uncertain significance Single submitter
- CAGE1 p.Val254Ile Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CAGE1 p.Arg281Trp Uncertain significance Single submitter
- CAGE1 p.Arg475Trp Uncertain significance Single submitter
- CAGE1 p.Gln397Arg Uncertain significance Single submitter
- CAGE1 p.Gln456His Uncertain significance Single submitter
- CAGE1 p.Glu449Ala Uncertain significance Single submitter
- CAGE1 p.Glu450Asp Uncertain significance Single submitter
- CAGE1 p.Glu564Val Uncertain significance Single submitter
- CAGE1 p.Glu793Asp Uncertain significance Single submitter
- CAGE1 p.Ile774Thr Uncertain significance Single submitter
- CAGE1 p.Leu455Pro Uncertain significance Single submitter
- CAGE1 p.Leu791Trp Uncertain significance Single submitter
- CAGE1 p.Lys375Met Uncertain significance Single submitter
- CAGE1 p.Lys403Glu Uncertain significance Single submitter
- CAGE1 p.Lys796Asn Uncertain significance Single submitter
- CAGE1 p.Ser615Phe Uncertain significance Single submitter
- CAGE1 p.Ser784Pro Uncertain significance Single submitter
- CAGE1 p.Thr345Pro Uncertain significance Single submitter
All CAGE1 variants
Likely benign 9
- p.His17Arg Single submitter
- p.Ile351Val Single submitter
- p.Ile697Thr Single submitter
- p.Leu505= Single submitter
- p.Pro593Leu Single submitter
- p.Ser10Pro Single submitter
- p.Thr57Ser Single submitter
- p.Val353Ile Single submitter
- c.2478+664C>T No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 92
- p.Ala132Thr Single submitter ⚠
- p.Ala469Val Single submitter ⚠
- p.Ala566Thr Single submitter ⚠
- p.Ala605Val Single submitter ⚠
- p.Ala622Thr Single submitter ⚠
- p.Ala704Thr Single submitter ⚠
- p.Ala716Ser Single submitter ⚠
- p.Arg281Trp Single submitter ⚠
- p.Arg475Gln Single submitter ⚠
- p.Arg475Trp Single submitter ⚠
- p.Arg508Ile Single submitter ⚠
- p.Asn165Thr Single submitter ⚠
- p.Asn174Lys Single submitter ⚠
- p.Asn2Asp Single submitter ⚠
- p.Asn376Asp Single submitter ⚠
- p.Asn40Lys Single submitter ⚠
- p.Asn635Ser Single submitter ⚠
- p.Asn91Ser Single submitter ⚠
- p.Asp135Val Single submitter ⚠
- p.Asp159Gly Single submitter ⚠
- p.Asp21Asn Single submitter ⚠
- p.Asp302Asn Single submitter ⚠
- p.Asp674Tyr Single submitter
- p.Cys228Ser Single submitter ⚠
- p.Cys746Tyr Single submitter
- p.Cys82Tyr Single submitter ⚠
- p.Gln397Arg Single submitter ⚠
- p.Gln456His Single submitter ⚠
- p.Gln457His Single submitter ⚠
- p.Gln549Arg Single submitter ⚠
- p.Glu251Asp Single submitter ⚠
- p.Glu253Ala Single submitter ⚠
- p.Glu301Lys Single submitter ⚠
- p.Glu359Ala Single submitter ⚠
- p.Glu449Ala Single submitter ⚠
- p.Glu450Asp Single submitter ⚠
- p.Glu564Val Single submitter ⚠
- p.Glu751Gly Single submitter
- p.Glu76Gly Single submitter ⚠
- p.Glu793Asp Single submitter ⚠
- p.Glu807Lys Single submitter ⚠
- p.His17Gln Single submitter ⚠
- p.His195Tyr Single submitter ⚠
- p.Ile413Val Single submitter ⚠
- p.Ile52Val Single submitter ⚠
- p.Ile694Val Single submitter
- p.Ile707Thr Single submitter ⚠
- p.Ile750Val Single submitter
- p.Ile774Thr Single submitter ⚠
- p.Ile783Met Single submitter ⚠
- p.Leu118Ser Single submitter ⚠
- p.Leu455Pro Single submitter ⚠
- p.Leu728Pro Single submitter ⚠
- p.Leu791Trp Single submitter ⚠
- p.Lys206Glu Single submitter ⚠
- p.Lys338Asn Single submitter ⚠
- p.Lys375Met Single submitter ⚠
- p.Lys403Glu Single submitter ⚠
- p.Lys529Glu Single submitter ⚠
- p.Lys585Asn Single submitter ⚠
- p.Lys585Glu Single submitter ⚠
- p.Lys673Thr Single submitter
- p.Lys766Gln Single submitter
- p.Lys796Asn Single submitter ⚠
- p.Lys7Glu Single submitter ⚠
- p.Met405Lys Single submitter ⚠
- p.Met428Thr Single submitter ⚠
- p.Met624Thr Single submitter ⚠
- p.Met824Ile Single submitter ⚠
- p.Pro192Ser Single submitter ⚠
- p.Pro223Thr Single submitter ⚠
- p.Pro262Ala Single submitter ⚠
- p.Pro287Ser Single submitter ⚠
- p.Pro821Leu Single submitter ⚠
- p.Ser10Leu Single submitter ⚠
- p.Ser172Pro Single submitter ⚠
- p.Ser190Arg Single submitter ⚠
- p.Ser266Pro Single submitter ⚠
- p.Ser292Arg Single submitter ⚠
- p.Ser29Gly Single submitter ⚠
- p.Ser611Tyr Single submitter ⚠
- p.Ser615Phe Single submitter ⚠
- p.Ser619Thr Single submitter ⚠
- p.Ser723Arg Single submitter ⚠
- p.Ser784Pro Single submitter ⚠
- p.Thr345Pro Single submitter ⚠
- p.Thr528Met Single submitter ⚠
- p.Thr60Ser Single submitter ⚠
- p.Thr733Arg Single submitter
- p.Tyr240Cys Single submitter ⚠
- p.Tyr770Cys Single submitter ⚠
- p.Val254Ile Single submitter ⚠