Sugi Variant

Sugi Variant/BCOR

BCOR — 740 ClinVar variants

All ClinVar germline BCOR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 361 flagged for review →

72 Pathogenic · 1 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 45 Conflicting · 71 Benign · 26 Benign/Likely benign · 147 Likely benign · 344 Uncertain significance

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

⚑ Evidence disagreements 361

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 21

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

Predicted LoF vs a conflicting call 1

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 235

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 235

Predictors split 104

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

All BCOR variants

Pathogenic 72

Pathogenic/Likely pathogenic 1

  • p.Val797fs Multiple submitters microphthalmia, syndromic 2

Likely pathogenic 34

Conflicting classifications of pathogenicity 45

Benign 71

Benign/Likely benign 26

  • c.3847+7G>C Multiple submitters microphthalmia, syndromic 2
  • p.Arg1164Gln Multiple submitters microphthalmia, syndromic 2 ⚠
  • p.Arg710His Multiple submitters microphthalmia, syndromic 2
  • p.Asn1461= Multiple submitters microphthalmia, syndromic 2
  • p.Asp1593= Multiple submitters microphthalmia, syndromic 2
  • p.Asp551Asn Multiple submitters microphthalmia, syndromic 2
  • p.Glu1076Lys Multiple submitters microphthalmia, syndromic 2
  • p.Glu1093Lys Multiple submitters Inborn genetic diseases
  • p.Gly81Glu Multiple submitters Inborn genetic diseases ⚠
  • p.His1126= Multiple submitters microphthalmia, syndromic 2
  • p.His866= Multiple submitters
  • p.Leu808His Multiple submitters microphthalmia, syndromic 2
  • p.Lys1137Arg Multiple submitters Inborn genetic diseases
  • p.Pro1608= Multiple submitters Inborn genetic diseases
  • p.Pro316Ser Multiple submitters microphthalmia, syndromic 2
  • p.Pro838Ser Multiple submitters microphthalmia, syndromic 2
  • p.Ser1667= Multiple submitters microphthalmia, syndromic 2
  • p.Thr1560= Multiple submitters microphthalmia, syndromic 1
  • p.Thr1644Ile Multiple submitters Inborn genetic diseases
  • p.Thr1730= Multiple submitters microphthalmia, syndromic 2
  • p.Thr550= Multiple submitters Inborn genetic diseases
  • p.Thr60Met Multiple submitters microphthalmia, syndromic 2 ⚠
  • p.Thr708= Multiple submitters Inborn genetic diseases
  • p.Thr936Asn Multiple submitters microphthalmia, syndromic 2
  • p.Val1102Gly Multiple submitters History of neurodevelopmental disorder
  • p.Val1138Ala Multiple submitters microphthalmia, syndromic 2

Likely benign 147

Uncertain significance 344

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