DEGS2 — 53 ClinVar variants
All ClinVar germline DEGS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
2 Benign · 4 Likely benign · 47 Uncertain significance
Full DEGS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEGS2 p.Ala157Thr Uncertain significance Single submitter
- DEGS2 p.Ala196Thr Uncertain significance Single submitter
- DEGS2 p.Ala280Thr Uncertain significance Single submitter
- DEGS2 p.Ala96Asp Uncertain significance Single submitter
- DEGS2 p.Arg101His Uncertain significance Single submitter
- DEGS2 p.Arg104Cys Uncertain significance Single submitter
- DEGS2 p.Arg104Pro Uncertain significance Single submitter
- DEGS2 p.Arg184Cys Uncertain significance Single submitter
- DEGS2 p.Arg314Gln Uncertain significance Single submitter
- DEGS2 p.Arg317Thr Uncertain significance Single submitter
- DEGS2 p.Asn272Lys Uncertain significance Single submitter
- DEGS2 p.Asp299Gly Uncertain significance Single submitter
- DEGS2 p.Cys154Arg Uncertain significance Single submitter
- DEGS2 p.Cys58Gly Uncertain significance Single submitter
- DEGS2 p.Gly100Ser Uncertain significance Single submitter
- DEGS2 p.Gly139Arg Uncertain significance Single submitter
- DEGS2 p.Gly205Val Uncertain significance Single submitter
- DEGS2 p.His178Tyr Uncertain significance Single submitter
- DEGS2 p.His240Gln Uncertain significance Single submitter
- DEGS2 p.Leu163Pro Uncertain significance Single submitter
- DEGS2 p.Leu175His Uncertain significance Single submitter
- DEGS2 p.Leu287Pro Uncertain significance Single submitter
- DEGS2 p.Leu297His Uncertain significance Single submitter
- DEGS2 p.Leu70Val Uncertain significance Single submitter
- DEGS2 p.Pro156Thr Uncertain significance Single submitter
- DEGS2 p.Pro41Leu Uncertain significance Single submitter
- DEGS2 p.Thr190Met Uncertain significance Single submitter
- DEGS2 p.Val116Met Uncertain significance Single submitter
- DEGS2 p.Val129Met Uncertain significance Single submitter
- DEGS2 p.Val177Ile Uncertain significance Single submitter
- DEGS2 p.Val187Met Uncertain significance Single submitter
- DEGS2 p.Val53Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- DEGS2 p.Ala65Val Uncertain significance Single submitter
- DEGS2 p.Arg38Trp Uncertain significance Single submitter
- DEGS2 p.Arg42Cys Uncertain significance Single submitter
- DEGS2 p.Arg62His Uncertain significance Single submitter
- DEGS2 p.Asp285Asn Uncertain significance Single submitter
- DEGS2 p.Asp321Tyr Uncertain significance Single submitter
- DEGS2 p.Pro288Leu Uncertain significance Single submitter
- DEGS2 p.Thr146Met Uncertain significance Single submitter
- DEGS2 p.Thr85Met Uncertain significance Single submitter
- DEGS2 p.Tyr170Phe Uncertain significance Single submitter
- DEGS2 p.Tyr258Phe Uncertain significance Single submitter
All DEGS2 variants
Likely benign 4
- p.Ala95Thr Single submitter
- p.Arg101Cys Single submitter
- p.Arg104His Single submitter
- p.Val260Met Single submitter
Uncertain significance 47
- p.Ala157Thr Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala280Thr Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Ala96Asp Single submitter ⚠
- p.Arg101His Single submitter ⚠
- p.Arg104Cys Single submitter ⚠
- p.Arg104Pro Single submitter ⚠
- p.Arg106His Single submitter
- p.Arg184Cys Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg317Thr Single submitter ⚠
- p.Arg38Trp Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg62His Single submitter ⚠
- p.Asn272Lys Single submitter ⚠
- p.Asp285Asn Single submitter ⚠
- p.Asp299Gly Single submitter ⚠
- p.Asp321Tyr Single submitter ⚠
- p.Cys154Arg Single submitter ⚠
- p.Cys58Gly Single submitter ⚠
- p.Gly100Ser Single submitter ⚠
- p.Gly139Arg Single submitter ⚠
- p.Gly205Val Single submitter ⚠
- p.Gly227Ser Single submitter
- p.His178Tyr Single submitter ⚠
- p.His240Gln Single submitter ⚠
- p.Leu163Pro Single submitter ⚠
- p.Leu175His Single submitter ⚠
- p.Leu287Pro Single submitter ⚠
- p.Leu297His Single submitter ⚠
- p.Leu70Val Single submitter ⚠
- p.Pro156Thr Single submitter ⚠
- p.Pro288Leu Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Thr146Met Single submitter ⚠
- p.Thr190Met Single submitter ⚠
- p.Thr85Met Single submitter ⚠
- p.Tyr170Phe Single submitter ⚠
- p.Tyr258Phe Single submitter ⚠
- p.Val116Met Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val13Phe Single submitter
- p.Val142Met Single submitter
- p.Val177Ile Single submitter ⚠
- p.Val187Met Single submitter ⚠
- p.Val53Leu Single submitter ⚠