Sugi Variant

Sugi Variant/KMT2E

KMT2E — 1434 ClinVar variants

All ClinVar germline KMT2E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 667 flagged for review →

71 Pathogenic · 10 Pathogenic/Likely pathogenic · 62 Likely pathogenic · 62 Conflicting · 67 Benign · 40 Benign/Likely benign · 387 Likely benign · 735 Uncertain significance

Full KMT2E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 667

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 38

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

Predicted LoF vs a conflicting call 9

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 436

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 436

Predictors split 182

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 182

All KMT2E variants

Pathogenic 71

Pathogenic/Likely pathogenic 10

  • p.Arg405Ter Multiple submitters O'Donnell-Luria-Rodan syndrome
  • p.Arg818Ter Multiple submitters O'Donnell-Luria-Rodan syndrome
  • p.Arg874Ter Multiple submitters Inborn genetic diseases
  • p.Leu1610fs Multiple submitters O'Donnell-Luria-Rodan syndrome
  • p.Lys1164Ter Multiple submitters O'Donnell-Luria-Rodan syndrome
  • p.Lys593fs Multiple submitters Inborn genetic diseases
  • p.Lys961fs Multiple submitters O'Donnell-Luria-Rodan syndrome
  • p.Phe1582fs Multiple submitters O'Donnell-Luria-Rodan syndrome
  • p.Pro1686fs Multiple submitters O'Donnell-Luria-Rodan syndrome
  • p.Tyr1224_Asn1225delinsTer Multiple submitters O'Donnell-Luria-Rodan syndrome

Likely pathogenic 62

Conflicting classifications of pathogenicity 62

Benign 67

Benign/Likely benign 40

Likely benign 387

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

Uncertain significance 735

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