Sugi Variant

Sugi Variant/MBD4

MBD4 — 1314 ClinVar variants

All ClinVar germline MBD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 698 flagged for review →

97 Pathogenic · 8 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 66 Conflicting · 24 Benign · 75 Benign/Likely benign · 266 Likely benign · 762 Uncertain significance

Full MBD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 698

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 43

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

Predictors lean, ClinVar uncertain 591

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 591

Predictors split 64

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

All MBD4 variants

Pathogenic 97

Pathogenic/Likely pathogenic 8

  • c.1394-1_1394insA Multiple submitters Inborn genetic diseases
  • c.1544-1G>T Multiple submitters Inborn genetic diseases
  • p.Arg540Ter Multiple submitters Inborn genetic diseases
  • p.Glu314fs Multiple submitters tumor predisposition syndrome 2
  • p.Leu557Ter Multiple submitters Inborn genetic diseases
  • p.Ser205fs Multiple submitters Inborn genetic diseases
  • p.Ser260fs Multiple submitters Inborn genetic diseases
  • p.Ser321Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 16

Conflicting classifications of pathogenicity 66

Benign 24

Benign/Likely benign 75

  • p.Ala295= Multiple submitters Inborn genetic diseases
  • p.Ala40= Multiple submitters tumor predisposition syndrome 2
  • p.Ala428= Multiple submitters tumor predisposition syndrome 2
  • p.Arg506= Multiple submitters Inborn genetic diseases
  • p.Asn224= Multiple submitters tumor predisposition syndrome 2
  • p.Asn345= Multiple submitters Inborn genetic diseases
  • p.Asp217= Multiple submitters tumor predisposition syndrome 2
  • p.Asp261= Multiple submitters Inborn genetic diseases
  • p.Asp33= Multiple submitters Inborn genetic diseases
  • p.Asp49= Multiple submitters Inborn genetic diseases
  • p.Asp562= Multiple submitters Inborn genetic diseases
  • p.Cys61Arg Multiple submitters Inborn genetic diseases
  • p.Gln280= Multiple submitters Inborn genetic diseases
  • p.Gln283= Multiple submitters Inborn genetic diseases
  • p.Gln402= Multiple submitters Inborn genetic diseases
  • p.Glu298= Multiple submitters tumor predisposition syndrome 2
  • p.Glu305= Multiple submitters tumor predisposition syndrome 2
  • p.Glu346= Multiple submitters Inborn genetic diseases
  • p.Glu369= Multiple submitters tumor predisposition syndrome 2
  • p.Glu60= Multiple submitters tumor predisposition syndrome 2
  • p.Glu67= Multiple submitters tumor predisposition syndrome 2
  • p.Gly249= Multiple submitters Inborn genetic diseases
  • p.Gly297= Multiple submitters Inborn genetic diseases
  • p.His561= Multiple submitters tumor predisposition syndrome 2
  • p.Ile358= Multiple submitters Inborn genetic diseases
  • p.Ile358Thr Multiple submitters tumor predisposition syndrome 2
  • p.Ile510= Multiple submitters tumor predisposition syndrome 2
  • p.Ile69= Multiple submitters tumor predisposition syndrome 2
  • p.Leu146= Multiple submitters Inborn genetic diseases
  • p.Leu167= Multiple submitters tumor predisposition syndrome 2
  • p.Leu178= Multiple submitters Inborn genetic diseases
  • p.Leu410= Multiple submitters tumor predisposition syndrome 2
  • p.Leu505= Multiple submitters tumor predisposition syndrome 2
  • p.Leu518= Multiple submitters Inborn genetic diseases
  • p.Leu564= Multiple submitters Inborn genetic diseases
  • p.Leu573= Multiple submitters Inborn genetic diseases
  • p.Lys183= Multiple submitters tumor predisposition syndrome 2
  • p.Lys227= Multiple submitters tumor predisposition syndrome 2
  • p.Lys347= Multiple submitters Inborn genetic diseases
  • p.Lys498= Multiple submitters Inborn genetic diseases
  • p.Lys559= Multiple submitters Inborn genetic diseases
  • p.Pro113= Multiple submitters tumor predisposition syndrome 2
  • p.Pro191= Multiple submitters Inborn genetic diseases
  • p.Pro277= Multiple submitters tumor predisposition syndrome 2
  • p.Pro424= Multiple submitters Inborn genetic diseases
  • p.Pro450= Multiple submitters Inborn genetic diseases
  • p.Pro552= Multiple submitters tumor predisposition syndrome 2
  • p.Pro63= Multiple submitters Inborn genetic diseases
  • p.Pro68= Multiple submitters tumor predisposition syndrome 2
  • p.Ser147= Multiple submitters tumor predisposition syndrome 2
  • p.Ser22= Multiple submitters Inborn genetic diseases
  • p.Ser316= Multiple submitters Inborn genetic diseases
  • p.Ser422= Multiple submitters Inborn genetic diseases
  • p.Thr144= Multiple submitters Inborn genetic diseases
  • p.Thr287= Multiple submitters tumor predisposition syndrome 2
  • p.Thr299= Multiple submitters Inborn genetic diseases
  • p.Thr351= Multiple submitters tumor predisposition syndrome 2
  • p.Thr457= Multiple submitters Inborn genetic diseases
  • p.Thr463= Multiple submitters tumor predisposition syndrome 2
  • p.Thr487= Multiple submitters Inborn genetic diseases
  • p.Tyr155= Multiple submitters tumor predisposition syndrome 2
  • p.Tyr348= Multiple submitters Inborn genetic diseases
  • p.Tyr503= Multiple submitters Inborn genetic diseases
  • p.Tyr534= Multiple submitters Inborn genetic diseases
  • p.Tyr539= Multiple submitters Inborn genetic diseases
  • p.Tyr560= Multiple submitters tumor predisposition syndrome 2
  • p.Val145= Multiple submitters Inborn genetic diseases
  • p.Val258= Multiple submitters tumor predisposition syndrome 2
  • p.Val27= Multiple submitters Inborn genetic diseases
  • p.Val288= Multiple submitters tumor predisposition syndrome 2
  • p.Val310= Multiple submitters tumor predisposition syndrome 2
  • p.Val365= Multiple submitters tumor predisposition syndrome 2
  • p.Val471= Multiple submitters Inborn genetic diseases
  • p.Val493= Multiple submitters Inborn genetic diseases
  • p.Val511= Multiple submitters Inborn genetic diseases

Likely benign 266

Uncertain significance 762

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