Sugi Variant

Sugi Variant/PCDH12

PCDH12 — 504 ClinVar variants

All ClinVar germline PCDH12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 262 flagged for review →

13 Pathogenic · 6 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 28 Conflicting · 37 Benign · 8 Benign/Likely benign · 140 Likely benign · 258 Uncertain significance

Full PCDH12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 262

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 25

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

Predictors lean, ClinVar uncertain 207

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 207

Predictors split 30

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

All PCDH12 variants

Pathogenic 13

  • p.Arg151Ter Multiple submitters diencephalic-mesencephalic junction dysplasia
  • p.Arg839Ter Multiple submitters diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Ala65fs Single submitter
  • p.Arg688Ter Single submitter
  • p.Cys811Ter Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Gln140Ter Single submitter
  • p.Gln767Ter Single submitter
  • p.Gln855Ter Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Glu840fs Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Leu11fs Single submitter
  • p.Trp808Ter Single submitter
  • p.Val354fs Single submitter PCDH12-related disorder
  • p.Ser838fs No assertion criteria diencephalic-mesencephalic junction dysplasia syndrome 1

Pathogenic/Likely pathogenic 6

  • p.Arg308Ter Multiple submitters diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Cys104fs Multiple submitters
  • p.Lys224fs Multiple submitters diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Ser1003fs Multiple submitters
  • p.Ser383Ter Multiple submitters diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Tyr318Ter Multiple submitters disorder of development or morphogenesis

Likely pathogenic 14

  • p.Lys224fs Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Cys104Tyr Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Gln70fs Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Glu39Ter Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Glu670Ter Single submitter cerebellar ataxia
  • p.Glu861Ter Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Gly892fs Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Leu412Ser Single submitter
  • p.Leu690_Leu691insTer Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Pro14fs Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Ser361Ter Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Thr215Pro Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1
  • p.Val724fs Single submitter disorder of development or morphogenesis
  • p.Val954fs Single submitter diencephalic-mesencephalic junction dysplasia syndrome 1

Conflicting classifications of pathogenicity 28

Benign 37

Benign/Likely benign 8

Likely benign 140

Uncertain significance 258