DERL1 — 30 ClinVar variants
All ClinVar germline DERL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
30 Uncertain significance
Full DERL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DERL1 p.Ala37Pro Uncertain significance Single submitter
- DERL1 p.Ala45Val Uncertain significance Single submitter
- DERL1 p.Ala96Val Uncertain significance Single submitter
- DERL1 p.Asp250Asn Uncertain significance Single submitter
- DERL1 p.Gln204Arg Uncertain significance Single submitter
- DERL1 p.Ile34Asn Uncertain significance Single submitter
- DERL1 p.Ile34Val Uncertain significance Single submitter
- DERL1 p.Leu248Pro Uncertain significance Single submitter
- DERL1 p.Met101Val Uncertain significance Single submitter
- DERL1 p.Met187Thr Uncertain significance Single submitter
- DERL1 p.Met192Val Uncertain significance Single submitter
- DERL1 p.Pro203Leu Uncertain significance Single submitter
- DERL1 p.Ser143Leu Uncertain significance Single submitter
- DERL1 p.Ser226Gly Uncertain significance Single submitter
- DERL1 p.Thr88Ala Uncertain significance Single submitter
- DERL1 p.Trp157Cys Uncertain significance Single submitter
- DERL1 p.Trp42Arg Uncertain significance Single submitter
- DERL1 p.Tyr154Cys Uncertain significance Single submitter
- DERL1 p.Val217Gly Uncertain significance Single submitter
- DERL1 p.Val217Ile Uncertain significance Single submitter
- DERL1 p.Val23Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- DERL1 p.Arg208His Uncertain significance Single submitter
- DERL1 p.Asp193His Uncertain significance Single submitter
- DERL1 p.Gly215Val Uncertain significance Single submitter
- DERL1 p.Gly236Arg Uncertain significance Single submitter
- DERL1 p.His240Arg Uncertain significance Single submitter
- DERL1 p.Leu200Ile Uncertain significance Single submitter
- DERL1 p.Pro63Ser Uncertain significance Single submitter
- DERL1 p.Tyr17Cys Uncertain significance Single submitter
- DERL1 p.Val110Met Uncertain significance Single submitter
All DERL1 variants
Uncertain significance 30
- p.Ala37Pro Single submitter ⚠
- p.Ala45Val Single submitter ⚠
- p.Ala96Val Single submitter ⚠
- p.Arg208His Single submitter ⚠
- p.Asp193His Single submitter ⚠
- p.Asp250Asn Single submitter ⚠
- p.Gln204Arg Single submitter ⚠
- p.Gly215Val Single submitter ⚠
- p.Gly236Arg Single submitter ⚠
- p.His240Arg Single submitter ⚠
- p.Ile34Asn Single submitter ⚠
- p.Ile34Val Single submitter ⚠
- p.Leu200Ile Single submitter ⚠
- p.Leu248Pro Single submitter ⚠
- p.Met101Val Single submitter ⚠
- p.Met187Thr Single submitter ⚠
- p.Met192Val Single submitter ⚠
- p.Pro203Leu Single submitter ⚠
- p.Pro63Ser Single submitter ⚠
- p.Ser143Leu Single submitter ⚠
- p.Ser226Gly Single submitter ⚠
- p.Thr88Ala Single submitter ⚠
- p.Trp157Cys Single submitter ⚠
- p.Trp42Arg Single submitter ⚠
- p.Tyr154Cys Single submitter ⚠
- p.Tyr17Cys Single submitter ⚠
- p.Val110Met Single submitter ⚠
- p.Val217Gly Single submitter ⚠
- p.Val217Ile Single submitter ⚠
- p.Val23Leu Single submitter ⚠