DERL3 — 38 ClinVar variants
All ClinVar germline DERL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
5 Likely benign · 33 Uncertain significance
Full DERL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DERL3 p.Ala8Asp Uncertain significance Single submitter
- DERL3 p.Arg83Pro Uncertain significance Single submitter
- DERL3 p.Asn142Ser Uncertain significance Single submitter
- DERL3 p.Asn74Ile Uncertain significance Single submitter
- DERL3 p.Asp96Glu Uncertain significance Single submitter
- DERL3 p.His180Arg Uncertain significance Single submitter
- DERL3 p.Leu33Pro Uncertain significance Single submitter
- DERL3 p.Leu76Val Uncertain significance Single submitter
- DERL3 p.Phe118Val Uncertain significance Single submitter
- DERL3 p.Phe63Val Uncertain significance Single submitter
- DERL3 p.Phe69Cys Uncertain significance Single submitter
- DERL3 p.Phe71Cys Uncertain significance Single submitter
- DERL3 p.Pro190Leu Uncertain significance Single submitter
- DERL3 p.Pro45Ser Uncertain significance Single submitter
- DERL3 p.Thr17Arg Uncertain significance Single submitter
- DERL3 p.Thr17Met Uncertain significance Single submitter
- DERL3 p.Thr17Pro Uncertain significance Single submitter
- DERL3 p.Val106Phe Uncertain significance Single submitter
- DERL3 p.Val131Met Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- DERL3 p.Arg93His Uncertain significance Single submitter
- DERL3 p.Gly145Ser Uncertain significance Single submitter
- DERL3 p.Met127Val Uncertain significance Single submitter
- DERL3 p.Met159Ile Uncertain significance Single submitter
- DERL3 p.Met159Thr Uncertain significance Single submitter
- DERL3 p.Phe118Leu Uncertain significance Single submitter
- DERL3 p.Phe49Leu Uncertain significance Single submitter
- DERL3 p.Phe79Leu Uncertain significance Single submitter
- DERL3 p.Pro152Leu Uncertain significance Single submitter
- DERL3 p.Ser70Ile Uncertain significance Single submitter
- DERL3 p.Ser89Phe Uncertain significance Single submitter
- DERL3 p.Thr201Ser Uncertain significance Single submitter
- DERL3 p.Val106Ile Uncertain significance Single submitter
- DERL3 p.Val188Ile Uncertain significance Single submitter
All DERL3 variants
Likely benign 5
- p.Ala177= Multiple submitters
- c.*1955G>A Single submitter
- c.*2015G>A Single submitter
- p.Leu185= Single submitter
- p.Phe144= Single submitter
Uncertain significance 33
- p.Ala8Asp Single submitter ⚠
- p.Arg83Pro Single submitter ⚠
- p.Arg93His Single submitter ⚠
- p.Asn142Ser Single submitter ⚠
- p.Asn74Ile Single submitter ⚠
- p.Asp96Glu Single submitter ⚠
- p.Gly145Ser Single submitter ⚠
- p.His180Arg Single submitter ⚠
- p.Leu33Pro Single submitter ⚠
- p.Leu76Val Single submitter ⚠
- p.Met127Val Single submitter ⚠
- p.Met159Ile Single submitter ⚠
- p.Met159Thr Single submitter ⚠
- p.Phe118Leu Single submitter ⚠
- p.Phe118Val Single submitter ⚠
- p.Phe49Leu Single submitter ⚠
- p.Phe63Val Single submitter ⚠
- p.Phe69Cys Single submitter ⚠
- p.Phe71Cys Single submitter ⚠
- p.Phe79Leu Single submitter ⚠
- p.Pro152Leu Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro45Ser Single submitter ⚠
- p.Ser70Ile Single submitter ⚠
- p.Ser89Phe Single submitter ⚠
- p.Thr17Arg Single submitter ⚠
- p.Thr17Met Single submitter ⚠
- p.Thr17Pro Single submitter ⚠
- p.Thr201Ser Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val106Phe Single submitter ⚠
- p.Val131Met Single submitter ⚠
- p.Val188Ile Single submitter ⚠