Sugi Variant

Sugi Variant/KMT2A

KMT2A — 3772 ClinVar variants

All ClinVar germline KMT2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 958 flagged for review →

359 Pathogenic · 23 Pathogenic/Likely pathogenic · 169 Likely pathogenic · 165 Conflicting · 83 Benign · 80 Benign/Likely benign · 1060 Likely benign · 1833 Uncertain significance

Full KMT2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 958

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 3

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

Predictors agree, ClinVar conflicts 85

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

Predicted LoF vs a conflicting call 2

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 820

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 820

Predictors split 48

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

All KMT2A variants

Pathogenic 359

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

Pathogenic/Likely pathogenic 23

  • p.Ala1024fs Multiple submitters Wiedemann-Steiner syndrome
  • p.Arg1101Ter Multiple submitters Inborn genetic diseases
  • p.Arg1154Gln Multiple submitters KMT2A-related disorder
  • p.Arg1154Trp Multiple submitters Wiedemann-Steiner syndrome
  • p.Arg1478del Multiple submitters Wiedemann-Steiner syndrome
  • p.Arg160Ter Multiple submitters KMT2A-related disorder
  • p.Arg1636Ter Multiple submitters Wiedemann-Steiner syndrome
  • p.Arg1811Ter Multiple submitters Wiedemann-Steiner syndrome
  • p.Arg1963Ter Multiple submitters Inborn genetic diseases
  • p.Arg2149Ter Multiple submitters Wiedemann-Steiner syndrome
  • p.Arg2191Ter Multiple submitters Wiedemann-Steiner syndrome
  • p.Arg3283Ter Multiple submitters neurodevelopmental disorder
  • p.Arg3744Ter Multiple submitters KMT2A-related disorder
  • p.Arg608Ter Multiple submitters Wiedemann-Steiner syndrome
  • p.Arg862Ter Multiple submitters Wiedemann-Steiner syndrome
  • p.Cys1155Tyr Multiple submitters Wiedemann-Steiner syndrome
  • p.Cys1158Tyr Multiple submitters Wiedemann-Steiner syndrome
  • p.Gln1391Ter Multiple submitters Wiedemann-Steiner syndrome
  • p.Gln554Ter Multiple submitters Wiedemann-Steiner syndrome
  • p.Glu2554fs Multiple submitters Wiedemann-Steiner syndrome
  • p.Leu3304fs Multiple submitters Wiedemann-Steiner syndrome
  • p.Lys870Ter Multiple submitters Wiedemann-Steiner syndrome
  • p.Val2523fs Multiple submitters Wiedemann-Steiner syndrome

Likely pathogenic 169

Conflicting classifications of pathogenicity 165

Benign 83

Benign/Likely benign 80

Likely benign 1060

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

Uncertain significance 1833

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