Sugi Variant

Sugi Variant/MPDZ

MPDZ — 1956 ClinVar variants

All ClinVar germline MPDZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 900 flagged for review →

70 Pathogenic · 18 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 44 Conflicting · 37 Benign · 35 Benign/Likely benign · 701 Likely benign · 1002 Uncertain significance

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

⚑ Evidence disagreements 900

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 34

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

Predictors lean, ClinVar uncertain 737

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 737

Predictors split 129

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

All MPDZ variants

Pathogenic 70

Pathogenic/Likely pathogenic 18

  • c.1087-1G>A Multiple submitters
  • c.3360-2A>G Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • c.4003+1G>A Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Arg1034Ter Multiple submitters MPDZ-related disorder
  • p.Arg1391Ter Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Arg1602Ter Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Arg1636Ter Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Arg449Ter Multiple submitters Inborn genetic diseases
  • p.Arg633Ter Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Gln1490fs Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Gly1682fs Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Leu1274fs Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Leu400fs Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Leu448fs Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Leu482Ter Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Lys1335Ter Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Ser1966fs Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2
  • p.Ser963fs Multiple submitters MPDZ-related disorder

Likely pathogenic 49

Conflicting classifications of pathogenicity 44

Benign 37

Benign/Likely benign 35

Likely benign 701

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

Uncertain significance 1002

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