Sugi Variant

Sugi Variant/BCL11B

BCL11B — 919 ClinVar variants

All ClinVar germline BCL11B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 422 flagged for review →

33 Pathogenic · 3 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 38 Conflicting · 27 Benign · 17 Benign/Likely benign · 338 Likely benign · 431 Uncertain significance

Full BCL11B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 422

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 2

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 283

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 283

Predictors split 114

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

All BCL11B variants

Pathogenic 33

  • p.Glu821fs Multiple submitters immunodeficiency 49
  • p.Gly630fs Multiple submitters BCL11B-related disorder
  • p.Ala28fs Single submitter
  • p.Arg262fs Single submitter autism spectrum disorder
  • p.Arg487fs Single submitter
  • p.Arg815fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Cys460Ter Single submitter
  • p.Cys826Arg Single submitter
  • p.Gln228Ter Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Gln241Ter Single submitter Inborn genetic diseases
  • p.Gln618Ter Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Gln80Ter Single submitter Inborn genetic diseases
  • p.Gly501fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Gly582fs Single submitter
  • p.Gly640fs Single submitter
  • p.His743fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Leu71fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Leu869fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Lys400fs Single submitter Inborn genetic diseases
  • p.Lys425fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Lys591fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Pro407fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Ser220fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Ser555fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Ser683fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Val813fs Single submitter BCL11B-related disorder
  • c.427+1G>A No assertion criteria intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Ala891fs No assertion criteria intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Asn441Lys No assertion criteria combined immunodeficiency ⚠
  • p.Cys81fs No assertion criteria intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Glu499Ter No assertion criteria intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Gly253fs No assertion criteria BCL11B-related disorder
  • p.Gly820fs No assertion criteria intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

Pathogenic/Likely pathogenic 3

  • p.Asn807Lys Multiple submitters intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities ⚠
  • p.Gly649fs Multiple submitters BCL11B-related disorder
  • p.Gly783fs Multiple submitters Inborn genetic diseases

Likely pathogenic 32

  • p.Cys808Arg Multiple submitters intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Tyr824Ter Multiple submitters intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Ala512fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Ala647fs Single submitter microcephaly
  • p.Arg366fs Single submitter
  • p.Arg733Ter Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Arg841His Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Asn386Lys Single submitter BCL11B-related disorder ⚠
  • p.Asp122fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Asp632fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Cys801Ter Single submitter
  • p.Cys826fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Cys859Trp Single submitter Inborn genetic diseases
  • p.Glu333Lys Single submitter BCL11B-related disorder ⚠
  • p.Glu539fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Gly570fs Single submitter immunodeficiency 49
  • p.Gly581fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.His528fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.His846Asp Single submitter
  • p.Lys672fs Single submitter
  • p.Lys838Arg Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities ⚠
  • p.Met1Thr Single submitter Inborn genetic diseases
  • p.Met873fs Single submitter
  • p.Phe403fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Phe517fs Single submitter BCL11B-related disorder
  • p.Pro303fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Ser428Ter Single submitter
  • p.Ser488fs Single submitter
  • p.Ser493Ter Single submitter
  • p.Ser817fs Single submitter intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
  • p.Thr840fs Single submitter Inborn genetic diseases
  • p.Tyr866fs Single submitter BCL11B-related disorder

Conflicting classifications of pathogenicity 38

Benign 27

Benign/Likely benign 17

Likely benign 338

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

Uncertain significance 431

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