Sugi Variant

Sugi Variant/KDM1A

KDM1A — 1157 ClinVar variants

All ClinVar germline KDM1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 587 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 20 Conflicting · 22 Benign · 13 Benign/Likely benign · 430 Likely benign · 656 Uncertain significance

Full KDM1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 587

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 16

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

Predictors lean, ClinVar uncertain 435

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 435

Predictors split 136

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

All KDM1A variants

Pathogenic 6

  • p.Glu403Lys Single submitter palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
  • p.Tyr785His Single submitter palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
  • c.352-1G>A No assertion criteria ACTH-independent macronodular adrenal hyperplasia 3
  • p.Arg271Ter No assertion criteria ACTH-independent macronodular adrenal hyperplasia 3
  • p.Gln662Ter No assertion criteria ACTH-independent macronodular adrenal hyperplasia 3
  • p.Val617fs No assertion criteria ACTH-independent macronodular adrenal hyperplasia 3

Pathogenic/Likely pathogenic 1

  • p.Asp580Gly Multiple submitters KDM1A-related disorder

Likely pathogenic 9

Conflicting classifications of pathogenicity 20

Benign 22

Benign/Likely benign 13

Likely benign 430

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

Uncertain significance 656

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