DLK2 — 56 ClinVar variants
All ClinVar germline DLK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
1 Conflicting · 5 Likely benign · 50 Uncertain significance
Full DLK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DLK2 p.Ala155Val Uncertain significance Single submitter
- DLK2 p.Ala19Thr Uncertain significance Single submitter
- DLK2 p.Ala19Val Uncertain significance Single submitter
- DLK2 p.Ala284Asp Uncertain significance Single submitter
- DLK2 p.Ala346Ser Uncertain significance Single submitter
- DLK2 p.Arg130His Uncertain significance Single submitter
- DLK2 p.Arg143Cys Uncertain significance Single submitter
- DLK2 p.Arg170Pro Uncertain significance Single submitter
- DLK2 p.Arg181Gln Uncertain significance Single submitter
- DLK2 p.Arg195Ser Uncertain significance Single submitter
- DLK2 p.Arg207Cys Uncertain significance Single submitter
- DLK2 p.Arg219Cys Uncertain significance Single submitter
- DLK2 p.Arg296Gln Uncertain significance Single submitter
- DLK2 p.Asp43Glu Uncertain significance Single submitter
- DLK2 p.Cys117Tyr Uncertain significance Single submitter
- DLK2 p.Cys142Trp Uncertain significance Single submitter
- DLK2 p.Gln222Arg Uncertain significance Single submitter
- DLK2 p.Glu114Gly Uncertain significance Single submitter
- DLK2 p.Glu293Lys Uncertain significance Single submitter
- DLK2 p.Gly112Ser Uncertain significance Single submitter
- DLK2 p.Gly243Ala Uncertain significance Single submitter
- DLK2 p.Gly285Val Uncertain significance Single submitter
- DLK2 p.Leu179Gln Uncertain significance Single submitter
- DLK2 p.Leu190Arg Uncertain significance Single submitter
- DLK2 p.Leu199Val Uncertain significance Single submitter
- DLK2 p.Pro23Arg Uncertain significance Single submitter
- DLK2 p.Pro263Ser Uncertain significance Single submitter
- DLK2 p.Pro347Ala Uncertain significance Single submitter
- DLK2 p.Pro50Leu Uncertain significance Single submitter
- DLK2 p.Ser240Arg Uncertain significance Single submitter
- DLK2 p.Thr97Met Uncertain significance Single submitter
- DLK2 p.Tyr349His Uncertain significance Single submitter
- DLK2 p.Val167Ala Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- DLK2 p.Arg126His Likely benign Single submitter
- DLK2 p.Arg230His Uncertain significance Single submitter
- DLK2 p.Arg296Trp Uncertain significance Single submitter
- DLK2 p.Arg59His Uncertain significance Single submitter
- DLK2 p.Asp27Asn Uncertain significance Single submitter
- DLK2 p.Cys358Tyr Uncertain significance Single submitter
- DLK2 p.Glu53Lys Uncertain significance Single submitter
- DLK2 p.His232Tyr Uncertain significance Single submitter
- DLK2 p.His348Asn Uncertain significance Single submitter
- DLK2 p.Leu14Phe Uncertain significance Single submitter
- DLK2 p.Leu369Met Uncertain significance Single submitter
- DLK2 p.Phe87Leu Uncertain significance Single submitter
- DLK2 p.Pro100Thr Uncertain significance Single submitter
- DLK2 p.Pro364Gln Uncertain significance Single submitter
- DLK2 p.Pro377Ser Uncertain significance Single submitter
- DLK2 p.Thr159Met Uncertain significance Single submitter
- DLK2 p.Thr275Met Uncertain significance Single submitter
- DLK2 p.Val270Ile Uncertain significance Single submitter
All DLK2 variants
Conflicting classifications of pathogenicity 1
- p.Asp261Val Single submitter ⚠
Likely benign 5
- p.Arg126His Single submitter ⚠
- p.Arg170His Single submitter
- p.Gly276= Single submitter
- p.Ser31= Single submitter
- p.Val175= Single submitter
Uncertain significance 50
- p.Ala155Val Single submitter ⚠
- p.Ala19Thr Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala284Asp Single submitter ⚠
- p.Ala346Ser Single submitter ⚠
- p.Arg130His Single submitter ⚠
- p.Arg143Cys Single submitter ⚠
- p.Arg170Pro Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg195Ser Single submitter ⚠
- p.Arg207Cys Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg230His Single submitter ⚠
- p.Arg296Gln Single submitter ⚠
- p.Arg296Trp Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Asp27Asn Single submitter ⚠
- p.Asp43Glu Single submitter ⚠
- p.Cys117Tyr Single submitter ⚠
- p.Cys142Trp Single submitter ⚠
- p.Cys358Tyr Single submitter ⚠
- p.Gln222Arg Single submitter ⚠
- p.Glu114Gly Single submitter ⚠
- p.Glu293Lys Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Gly112Ser Single submitter ⚠
- p.Gly243Ala Single submitter ⚠
- p.Gly285Val Single submitter ⚠
- p.His232Tyr Single submitter ⚠
- p.His348Asn Single submitter ⚠
- p.Leu14Phe Single submitter ⚠
- p.Leu179Gln Single submitter ⚠
- p.Leu190Arg Single submitter ⚠
- p.Leu199Val Single submitter ⚠
- p.Leu369Met Single submitter ⚠
- p.Phe87Leu Single submitter ⚠
- p.Pro100Thr Single submitter ⚠
- p.Pro23Arg Single submitter ⚠
- p.Pro263Ser Single submitter ⚠
- p.Pro347Ala Single submitter ⚠
- p.Pro364Gln Single submitter ⚠
- p.Pro377Ser Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Ser240Arg Single submitter ⚠
- p.Thr159Met Single submitter ⚠
- p.Thr275Met Single submitter ⚠
- p.Thr97Met Single submitter ⚠
- p.Tyr349His Single submitter ⚠
- p.Val167Ala Single submitter ⚠
- p.Val270Ile Single submitter ⚠