DERL2 — 16 ClinVar variants
All ClinVar germline DERL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
1 Likely benign · 15 Uncertain significance
Full DERL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DERL2 p.Arg225Trp Uncertain significance Single submitter
- DERL2 p.Asn191Ser Uncertain significance Single submitter
- DERL2 p.Glu214Ala Uncertain significance Single submitter
- DERL2 p.Ile204Val Uncertain significance Single submitter
- DERL2 p.Leu8Met Uncertain significance Single submitter
- DERL2 p.Pro14Arg Uncertain significance Single submitter
- DERL2 p.Tyr182His Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- DERL2 p.Ala19Thr Uncertain significance Single submitter
- DERL2 p.Glu224Gly Uncertain significance Single submitter
- DERL2 p.Leu237Val Uncertain significance Single submitter
- DERL2 p.Phe229Leu Uncertain significance Single submitter
- DERL2 p.Phe64Leu Uncertain significance Single submitter
- DERL2 p.Pro15Leu Uncertain significance Single submitter
- DERL2 p.Ser5Ile Uncertain significance Single submitter
- DERL2 p.Thr109Ile Uncertain significance Single submitter
All DERL2 variants
Likely benign 1
- p.Leu78= Single submitter
Uncertain significance 15
- p.Ala19Thr Single submitter ⚠
- p.Arg225Trp Single submitter ⚠
- p.Asn191Ser Single submitter ⚠
- p.Glu214Ala Single submitter ⚠
- p.Glu224Gly Single submitter ⚠
- p.Ile204Val Single submitter ⚠
- p.Leu237Val Single submitter ⚠
- p.Leu8Met Single submitter ⚠
- p.Phe229Leu Single submitter ⚠
- p.Phe64Leu Single submitter ⚠
- p.Pro14Arg Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Ser5Ile Single submitter ⚠
- p.Thr109Ile Single submitter ⚠
- p.Tyr182His Single submitter ⚠