DELE1 — 92 ClinVar variants

All ClinVar germline DELE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

8 Likely benign · 84 Uncertain significance

Full DELE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 78

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

Predictors split 4

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

All DELE1 variants

Likely benign 8

p.Ala283Val Single submitter
p.Arg325Gln Single submitter
p.Arg428Gln Single submitter
p.Arg76Cys Single submitter
p.Gly193Ser Single submitter
p.Gly488Arg Single submitter
p.Gly59Arg Single submitter
p.Pro499Leu Single submitter

Uncertain significance 84

p.Ala167Gly Single submitter ⚠
p.Ala232Ser Single submitter ⚠
p.Ala273Thr Single submitter ⚠
p.Ala338Val Single submitter
p.Ala372Ser Single submitter ⚠
p.Ala417Thr Single submitter ⚠
p.Ala423Thr Single submitter ⚠
p.Ala423Val Single submitter ⚠
p.Ala435Thr Single submitter ⚠
p.Ala99Ser Single submitter ⚠
p.Arg100Gly Single submitter ⚠
p.Arg114Trp Single submitter ⚠
p.Arg126Cys Single submitter ⚠
p.Arg126His Single submitter ⚠
p.Arg140Gly Single submitter ⚠
p.Arg14Cys Single submitter ⚠
p.Arg161Thr Single submitter ⚠
p.Arg183Cys Single submitter ⚠
p.Arg183His Single submitter ⚠
p.Arg274Cys Single submitter ⚠
p.Arg274His Single submitter ⚠
p.Arg318Cys Single submitter ⚠
p.Arg318His Single submitter ⚠
p.Arg318Pro Single submitter ⚠
p.Arg468Gly Single submitter ⚠
p.Arg468Pro Single submitter ⚠
p.Arg496Ser Single submitter ⚠
p.Asn249Ser Single submitter ⚠
p.Asn282Ser Single submitter
p.Asn477Ser Single submitter ⚠
p.Asp148Asn Single submitter ⚠
p.Asp347Ala Single submitter ⚠
p.Asp442Asn Single submitter ⚠
p.Asp48Asn Single submitter ⚠
p.Gln212Arg Single submitter ⚠
p.Gln212His Single submitter ⚠
p.Gln221Glu Single submitter ⚠
p.Gln316Leu Single submitter ⚠
p.Glu159Lys Single submitter ⚠
p.Gly275Ser Single submitter ⚠
p.Gly292Asp Single submitter ⚠
p.Gly400Asp Single submitter ⚠
p.Gly439Trp Single submitter ⚠
p.Gly51Asp Single submitter ⚠
p.Gly51Ser Single submitter ⚠
p.Gly54Asp Single submitter ⚠
p.Gly59Trp Single submitter ⚠
p.His287Gln Single submitter ⚠
p.His53Pro Single submitter ⚠
p.His64Arg Single submitter ⚠
p.Ile297Val Single submitter ⚠
p.Leu391Phe Single submitter ⚠
p.Leu480Phe Single submitter ⚠
p.Leu4Pro Single submitter ⚠
p.Lys278Arg Single submitter ⚠
p.Phe104Leu Single submitter ⚠
p.Phe356Ser Single submitter ⚠
p.Pro123Leu Single submitter ⚠
p.Pro13Ser Single submitter ⚠
p.Pro145Leu Single submitter ⚠
p.Pro150Ser Single submitter ⚠
p.Pro152Leu Single submitter ⚠
p.Pro184Ser Single submitter ⚠
p.Pro187Leu Single submitter ⚠
p.Pro25Arg Single submitter ⚠
p.Pro45Leu Single submitter ⚠
p.Pro502Leu Single submitter ⚠
p.Pro5Leu Single submitter ⚠
p.Pro5Ser Single submitter ⚠
p.Ser107Ala Single submitter ⚠
p.Ser168Leu Single submitter ⚠
p.Ser27Tyr Single submitter ⚠
p.Ser29Arg Single submitter ⚠
p.Ser455Cys Single submitter ⚠
p.Ser473Leu Single submitter ⚠
p.Ser473Trp Single submitter ⚠
p.Thr226Ser Single submitter ⚠
p.Thr234Ala Single submitter ⚠
p.Thr28Asn Single submitter ⚠
p.Thr475Ala Single submitter ⚠
p.Thr475Ser Single submitter ⚠
p.Thr57Met Single submitter ⚠
p.Trp72Arg Single submitter ⚠
p.Tyr366Cys Single submitter ⚠