EDIL3 — 77 ClinVar variants
All ClinVar germline EDIL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
2 Benign · 5 Likely benign · 70 Uncertain significance
Full EDIL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EDIL3 p.Ala396Thr Uncertain significance Single submitter
- EDIL3 p.Ala42Val Uncertain significance Single submitter
- EDIL3 p.Ala75Ser Uncertain significance Single submitter
- EDIL3 p.Ala75Thr Uncertain significance Single submitter
- EDIL3 p.Arg308Gly Uncertain significance Single submitter
- EDIL3 p.Arg3Pro Uncertain significance Single submitter
- EDIL3 p.Asn266Ser Uncertain significance Single submitter
- EDIL3 p.Asn277Lys Uncertain significance Single submitter
- EDIL3 p.Asn278Ser Uncertain significance Single submitter
- EDIL3 p.Asp43Val Uncertain significance Single submitter
- EDIL3 p.Asp448Asn Uncertain significance Single submitter
- EDIL3 p.Cys26Tyr Uncertain significance Single submitter
- EDIL3 p.Cys50Ser Uncertain significance Single submitter
- EDIL3 p.Gln19Arg Uncertain significance Single submitter
- EDIL3 p.Gln331Glu Uncertain significance Single submitter
- EDIL3 p.Glu144Asp Uncertain significance Single submitter
- EDIL3 p.Gly160Asp Uncertain significance Single submitter
- EDIL3 p.Gly200Arg Uncertain significance Single submitter
- EDIL3 p.Gly475Cys Uncertain significance Single submitter
- EDIL3 p.His371Arg Uncertain significance Single submitter
- EDIL3 p.Ile25Val Uncertain significance Single submitter
- EDIL3 p.Ile456Val Uncertain significance Single submitter
- EDIL3 p.Leu344Phe Uncertain significance Single submitter
- EDIL3 p.Lys188Thr Uncertain significance Single submitter
- EDIL3 p.Lys261Arg Uncertain significance Single submitter
- EDIL3 p.Lys429Glu Uncertain significance Single submitter
- EDIL3 p.Met150Val Uncertain significance Single submitter
- EDIL3 p.Met259Thr Uncertain significance Single submitter
- EDIL3 p.Pro214Leu Uncertain significance Single submitter
- EDIL3 p.Ser177Phe Uncertain significance Single submitter
- EDIL3 p.Thr265Ser Uncertain significance Single submitter
- EDIL3 p.Thr477Ile Uncertain significance Single submitter
- EDIL3 p.Tyr190Cys Uncertain significance Single submitter
- EDIL3 p.Val11Ile Uncertain significance Single submitter
- EDIL3 p.Val125Ile Uncertain significance Single submitter
- EDIL3 p.Val17Ile Uncertain significance Single submitter
- EDIL3 p.Val62Ala Uncertain significance Single submitter
- EDIL3 p.Val65Ala Uncertain significance Single submitter
- EDIL3 p.Val7Leu Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- EDIL3 p.Arg181Gln Uncertain significance Single submitter
- EDIL3 p.Arg212Ser Uncertain significance Single submitter
- EDIL3 p.Arg272Cys Uncertain significance Single submitter
- EDIL3 p.Arg272His Uncertain significance Single submitter
- EDIL3 p.Arg454Gln Uncertain significance Single submitter
- EDIL3 p.Asn81His Uncertain significance Single submitter
- EDIL3 p.Asp268Glu Uncertain significance Single submitter
- EDIL3 p.Asp276Asn Uncertain significance Single submitter
- EDIL3 p.Glu148Lys Uncertain significance Single submitter
- EDIL3 p.Gly166Ser Uncertain significance Single submitter
- EDIL3 p.Gly390Ala Uncertain significance Single submitter
- EDIL3 p.Gly86Arg Uncertain significance Single submitter
- EDIL3 p.His304Arg Uncertain significance Single submitter
- EDIL3 p.Ile216Phe Uncertain significance Single submitter
- EDIL3 p.Ile289Met Uncertain significance Single submitter
- EDIL3 p.Ile289Val Likely benign Single submitter
- EDIL3 p.Ile335Val Uncertain significance Single submitter
- EDIL3 p.Leu10Phe Uncertain significance Single submitter
- EDIL3 p.Leu311Val Uncertain significance Single submitter
- EDIL3 p.Lys255Asn Benign Single submitter
- EDIL3 p.Phe437Cys Uncertain significance Single submitter
- EDIL3 p.Pro240Leu Uncertain significance Single submitter
- EDIL3 p.Ser60Ala Uncertain significance Single submitter
- EDIL3 p.Thr286Pro Uncertain significance Single submitter
- EDIL3 p.Thr350Ile Uncertain significance Single submitter
- EDIL3 p.Thr420Ala Uncertain significance Single submitter
- EDIL3 p.Thr88Ile Uncertain significance Single submitter
- EDIL3 p.Thr99Ala Uncertain significance Single submitter
- EDIL3 p.Tyr192Asn Uncertain significance Single submitter
- EDIL3 p.Tyr250Cys Uncertain significance Single submitter
- EDIL3 p.Val262Leu Uncertain significance Single submitter
- EDIL3 p.Val388Met Uncertain significance Single submitter
- EDIL3 p.Val402Ala Uncertain significance Single submitter
All EDIL3 variants
Benign 2
- c.68-18dup Single submitter
- p.Lys255Asn Single submitter ⚠
Likely benign 5
- c.1137+6G>A Single submitter
- p.Ile275Val Single submitter
- p.Ile289Val Single submitter ⚠
- p.Ile340Val Single submitter
- p.Ser4Leu Single submitter
Uncertain significance 70
- p.Ala396Thr Single submitter ⚠
- p.Ala42Val Single submitter ⚠
- p.Ala75Ser Single submitter ⚠
- p.Ala75Thr Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg212Ser Single submitter ⚠
- p.Arg272Cys Single submitter ⚠
- p.Arg272His Single submitter ⚠
- p.Arg308Gly Single submitter ⚠
- p.Arg3Pro Single submitter ⚠
- p.Arg454Gln Single submitter ⚠
- p.Asn266Ser Single submitter ⚠
- p.Asn277Lys Single submitter ⚠
- p.Asn278Ser Single submitter ⚠
- p.Asn81His Single submitter ⚠
- p.Asp268Glu Single submitter ⚠
- p.Asp276Asn Single submitter ⚠
- p.Asp43Val Single submitter ⚠
- p.Asp448Asn Single submitter ⚠
- p.Cys26Tyr Single submitter ⚠
- p.Cys50Ser Single submitter ⚠
- p.Gln19Arg Single submitter ⚠
- p.Gln331Glu Single submitter ⚠
- p.Glu144Asp Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Gly160Asp Single submitter ⚠
- p.Gly166Ser Single submitter ⚠
- p.Gly200Arg Single submitter ⚠
- p.Gly390Ala Single submitter ⚠
- p.Gly475Cys Single submitter ⚠
- p.Gly86Arg Single submitter ⚠
- p.His304Arg Single submitter ⚠
- p.His371Arg Single submitter ⚠
- p.Ile216Phe Single submitter ⚠
- p.Ile25Val Single submitter ⚠
- p.Ile289Met Single submitter ⚠
- p.Ile335Val Single submitter ⚠
- p.Ile456Val Single submitter ⚠
- p.Leu10Phe Single submitter ⚠
- p.Leu311Val Single submitter ⚠
- p.Leu344Phe Single submitter ⚠
- p.Lys188Thr Single submitter ⚠
- p.Lys261Arg Single submitter ⚠
- p.Lys429Glu Single submitter ⚠
- p.Met150Val Single submitter ⚠
- p.Met259Thr Single submitter ⚠
- p.Phe437Cys Single submitter ⚠
- p.Pro214Leu Single submitter ⚠
- p.Pro240Leu Single submitter ⚠
- p.Ser177Phe Single submitter ⚠
- p.Ser60Ala Single submitter ⚠
- p.Thr265Ser Single submitter ⚠
- p.Thr286Pro Single submitter ⚠
- p.Thr350Ile Single submitter ⚠
- p.Thr420Ala Single submitter ⚠
- p.Thr477Ile Single submitter ⚠
- p.Thr88Ile Single submitter ⚠
- p.Thr99Ala Single submitter ⚠
- p.Tyr190Cys Single submitter ⚠
- p.Tyr192Asn Single submitter ⚠
- p.Tyr250Cys Single submitter ⚠
- p.Val11Ile Single submitter ⚠
- p.Val125Ile Single submitter ⚠
- p.Val17Ile Single submitter ⚠
- p.Val262Leu Single submitter ⚠
- p.Val388Met Single submitter ⚠
- p.Val402Ala Single submitter ⚠
- p.Val62Ala Single submitter ⚠
- p.Val65Ala Single submitter ⚠
- p.Val7Leu Single submitter ⚠