IDE — 110 ClinVar variants

All ClinVar germline IDE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →

2 Benign · 1 Benign/Likely benign · 4 Likely benign · 103 Uncertain significance

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

⚑ Evidence disagreements 100

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 76

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

Predictors split 24

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

All IDE variants

Benign 2

p.Asn841= Multiple submitters
p.Ile791= Multiple submitters

Benign/Likely benign 1

p.His10= Multiple submitters

Likely benign 4

p.Glu279= Single submitter
p.Ile978Val Single submitter
p.Leu241= Single submitter
p.Thr923Ile Single submitter

Uncertain significance 103

p.Ala185Glu Single submitter ⚠
p.Ala452Thr Single submitter ⚠
p.Ala479Thr Single submitter ⚠
p.Ala544Val Single submitter ⚠
p.Ala610Val Single submitter ⚠
p.Ala650Thr Single submitter ⚠
p.Ala694Thr Single submitter ⚠
p.Ala6Val Single submitter ⚠
p.Ala714Gly Single submitter ⚠
p.Ala737Thr Single submitter ⚠
p.Ala905Thr Single submitter ⚠
p.Ala926Thr Single submitter ⚠
p.Arg18His Single submitter ⚠
p.Arg24Cys Single submitter ⚠
p.Arg429Lys Single submitter ⚠
p.Asn193Lys Single submitter ⚠
p.Asn635Ser Single submitter ⚠
p.Asn671His Single submitter ⚠
p.Asn787Ser Single submitter ⚠
p.Asp175Gly Single submitter ⚠
p.Asp469Asn Single submitter ⚠
p.Asp507Asn Single submitter ⚠
p.Asp507Val Single submitter ⚠
p.Asp553Asn Single submitter ⚠
p.Asp935Glu Single submitter ⚠
p.Asp964Tyr Single submitter ⚠
p.Cys178Trp Single submitter ⚠
p.Cys789Tyr Single submitter ⚠
p.Gln743His Single submitter ⚠
p.Glu295Gly Single submitter ⚠
p.Glu381Lys Single submitter ⚠
p.Glu388Ala Single submitter ⚠
p.Glu428Gly Single submitter ⚠
p.Glu453Gln Single submitter ⚠
p.Glu486Lys Single submitter ⚠
p.Glu809Gln Single submitter ⚠
p.Glu880Gly Single submitter ⚠
p.Glu942Lys Single submitter ⚠
p.Gly1001Val Single submitter ⚠
p.Gly633Arg Single submitter ⚠
p.Gly740Arg Single submitter ⚠
p.Gly775Arg Single submitter ⚠
p.His1011Arg Single submitter ⚠
p.His754Tyr Single submitter ⚠
p.His857Asn Single submitter ⚠
p.Ile390Val Single submitter ⚠
p.Ile551Thr Single submitter ⚠
p.Ile640Val Single submitter ⚠
p.Ile654Thr Single submitter ⚠
p.Ile662Met Single submitter ⚠
p.Ile662Val Single submitter ⚠
p.Ile73Phe Single submitter ⚠
p.Ile750Thr Single submitter ⚠
p.Ile874Thr Single submitter
p.Ile891Val Single submitter ⚠
p.Ile912Val Single submitter ⚠
p.Leu21Val Single submitter ⚠
p.Leu450Pro Single submitter ⚠
p.Leu550Ile Single submitter ⚠
p.Leu569Phe Single submitter ⚠
p.Leu90Phe Single submitter ⚠
p.Lys123Gln Single submitter ⚠
p.Lys324Arg Single submitter ⚠
p.Lys511Glu Single submitter ⚠
p.Lys701Asn Single submitter ⚠
p.Lys906Asn Single submitter ⚠
p.Lys938Arg Single submitter ⚠
p.Met627Ile Single submitter ⚠
p.Met742Thr Single submitter ⚠
p.Met806Thr Single submitter ⚠
p.Met877Ile Single submitter ⚠
p.Met995Val Single submitter ⚠
p.Phe1014Leu Single submitter ⚠
p.Phe244Leu Single submitter ⚠
p.Phe275Leu Single submitter ⚠
p.Phe882Leu Single submitter ⚠
p.Pro11Leu Single submitter ⚠
p.Pro284Ala Single submitter ⚠
p.Pro306Ser Single submitter ⚠
p.Pro343Ser Single submitter
p.Pro461Ala Single submitter ⚠
p.Pro461Ser Single submitter ⚠
p.Pro506Arg Single submitter ⚠
p.Pro539Leu Single submitter ⚠
p.Pro717Ser Single submitter ⚠
p.Ser484Ala Single submitter ⚠
p.Ser603Leu Single submitter
p.Thr142Ala Single submitter ⚠
p.Thr208Ala Single submitter ⚠
p.Thr225Ala Single submitter ⚠
p.Thr316Ser Single submitter ⚠
p.Thr434Ala Single submitter ⚠
p.Thr451Ile Single submitter ⚠
p.Thr533Met Single submitter ⚠
p.Thr651Ser Single submitter ⚠
p.Tyr326Cys Single submitter ⚠
p.Tyr433Cys Single submitter ⚠
p.Tyr443Cys Single submitter ⚠
p.Tyr927His Single submitter ⚠
p.Val271Leu Single submitter ⚠
p.Val467Gly Single submitter ⚠
p.Val785Ile Single submitter ⚠
p.Val956Ile Single submitter ⚠