Sugi Variant

Sugi Variant/DLL1

DLL1 — 669 ClinVar variants

All ClinVar germline DLL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 328 flagged for review →

37 Pathogenic · 4 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 32 Conflicting · 35 Benign · 13 Benign/Likely benign · 217 Likely benign · 310 Uncertain significance

Full DLL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 328

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 21

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 165

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 165

Predictors split 141

The independent predictors disagree with each other — read with care.

All DLL1 variants

Pathogenic 37

  • p.Arg509Ter Multiple submitters Inborn genetic diseases
  • c.1033-22_1033-8del Single submitter
  • c.1249+1del Single submitter
  • c.1250-1G>A Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • c.2048+2T>C Single submitter
  • p.Ala418fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Ala494fs Single submitter
  • p.Arg193fs Single submitter
  • p.Arg61fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Asn592fs Single submitter
  • p.Cys212Ter Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Cys381Ter Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Cys549Ter Single submitter
  • p.Cys54Ter Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Cys56Ter Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Gln539fs Single submitter
  • p.Gln539Ter Single submitter
  • p.Gln574Ter Single submitter
  • p.Glu588Ter Single submitter
  • p.Gly235fs Single submitter
  • p.His201fs Single submitter Inborn genetic diseases
  • p.His295fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Phe191fs Single submitter
  • p.Pro514fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Pro51fs Single submitter
  • p.Pro52fs Single submitter
  • p.Ser13Ter Single submitter
  • p.Thr129fs Single submitter Neurodevelopmental delay
  • p.Thr154fs Single submitter
  • p.Tyr184Ter Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Tyr359Ter Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Tyr79Ter Single submitter
  • c.351+1G>T No assertion criteria neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • c.54+1G>A No assertion criteria neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Cys77Ter No assertion criteria neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Glu498Ter No assertion criteria neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Ile329fs No assertion criteria neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

Pathogenic/Likely pathogenic 4

  • p.Arg682fs Multiple submitters neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Glu673fs Multiple submitters neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Gly282fs Multiple submitters neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Val604fs Multiple submitters neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

Likely pathogenic 21

  • p.Ala528fs Multiple submitters neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • c.1250-8_1250-1del Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • c.327_351+36del Single submitter
  • c.732-2del Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Arg598fs Single submitter
  • p.Arg635fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Asn41fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Cys204Tyr Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Cys496fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Glu209fs Single submitter
  • p.Glu26Lys Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Glu26Ter Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.His152fs Single submitter DLL1-related disorder
  • p.Lys338fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Met1Val Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Trp116Ter Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Trp280fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Trp280Ter Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Tyr79Asp Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Val482fs Single submitter neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
  • p.Cys325Ter No assertion criteria DLL1-related disorder

Conflicting classifications of pathogenicity 32

Benign 35

Benign/Likely benign 13

Likely benign 217

Uncertain significance 310

Showing the top 300 by review status; the full set is in the sitemap.