Sugi Variant

Sugi Variant/GABRB2

GABRB2 — 605 ClinVar variants

All ClinVar germline GABRB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 221 flagged for review →

17 Pathogenic · 7 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 21 Conflicting · 65 Benign · 14 Benign/Likely benign · 233 Likely benign · 213 Uncertain significance

Full GABRB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 221

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 11

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

Predictors lean, ClinVar uncertain 149

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 61

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

All GABRB2 variants

Pathogenic 17

  • p.Ala304Val Multiple submitters intellectual disability
  • p.Asp125Asn Multiple submitters Inborn genetic diseases
  • p.Ala304Thr Single submitter developmental and epileptic encephalopathy 92
  • p.Arg293Pro Single submitter intellectual disability
  • p.Asn327Lys Single submitter intellectual disability
  • p.Ile246Thr Single submitter
  • p.Ile299Phe Single submitter intellectual disability
  • p.Leu277Ser Single submitter intellectual disability
  • p.Pro252Leu Single submitter intellectual disability
  • p.Pro300Leu Single submitter
  • p.Thr284Ile Single submitter intellectual disability
  • p.Tyr181Phe Single submitter developmental and epileptic encephalopathy 92
  • p.Val282Ala Single submitter
  • p.Lys303Arg No assertion criteria developmental and epileptic encephalopathy 92
  • p.Met79Thr No assertion criteria developmental and epileptic encephalopathy 92
  • p.Thr287Pro No assertion criteria developmental and epileptic encephalopathy 92
  • p.Tyr244His No assertion criteria developmental and epileptic encephalopathy 92

Pathogenic/Likely pathogenic 7

  • p.Arg293Trp Multiple submitters developmental and epileptic encephalopathy 92
  • p.Lys303Asn Multiple submitters developmental and epileptic encephalopathy 92
  • p.Phe245Leu Multiple submitters intellectual disability
  • p.Tyr301Cys Multiple submitters developmental and epileptic encephalopathy 92
  • p.Tyr301Phe Multiple submitters developmental and epileptic encephalopathy 92
  • p.Val302Met Multiple submitters developmental and epileptic encephalopathy 92
  • p.Val316Ile Multiple submitters developmental and epileptic encephalopathy 92

Likely pathogenic 35

  • p.Ile288Thr Multiple submitters intellectual disability
  • p.Arg240Ile Single submitter intellectual disability
  • p.Arg293Gln Single submitter intellectual disability
  • p.Asn289Lys Single submitter
  • p.Asp80His Single submitter Inborn genetic diseases
  • p.Gln209His Single submitter developmental and epileptic encephalopathy 92
  • p.Gln209Pro Single submitter Inborn genetic diseases
  • p.Gln248His Single submitter
  • p.Glu76Asp Single submitter intellectual disability
  • p.Glu76Lys Single submitter intellectual disability
  • p.Gly243Asp Single submitter
  • p.Ile288Asn Single submitter developmental and epileptic encephalopathy 92
  • p.Ile299Ser Single submitter
  • p.Ile299Val Single submitter developmental and epileptic encephalopathy 92 ⚠
  • p.Leu259Phe Single submitter intellectual disability
  • p.Leu51Val Single submitter intellectual disability
  • p.Lys303Glu Single submitter intellectual disability
  • p.Met162Ile Single submitter developmental and epileptic encephalopathy 92
  • p.Met307Arg Single submitter Seizure
  • p.Met310Thr Single submitter developmental and epileptic encephalopathy 92 ⚠
  • p.Met79Lys Single submitter
  • p.Phe224Leu Single submitter intellectual disability ⚠
  • p.Phe317Ser Single submitter
  • p.Pro252Ala Single submitter Cerebral visual impairment and intellectual disability
  • p.Pro252Ser Single submitter developmental and epileptic encephalopathy 92
  • p.Pro252Thr Single submitter developmental and epileptic encephalopathy 92
  • p.Pro297Arg Single submitter developmental and epileptic encephalopathy 92
  • p.Thr249Arg Single submitter
  • p.Thr280Ala Single submitter intellectual disability
  • p.Thr280Ile Single submitter Inborn genetic diseases
  • p.Thr286Ile Single submitter developmental and epileptic encephalopathy 92
  • p.Thr286Ser Single submitter intellectual disability
  • p.Tyr301His Single submitter intellectual disability
  • p.Tyr81Cys Single submitter developmental and epileptic encephalopathy 92
  • p.Ile329Asn No assertion criteria developmental and epileptic encephalopathy 92

Conflicting classifications of pathogenicity 21

Benign 65

Benign/Likely benign 14

  • c.1077+6T>C Multiple submitters intellectual disability
  • c.1078-9G>A Multiple submitters intellectual disability
  • c.238-14del Multiple submitters intellectual disability
  • c.238-14dup Multiple submitters intellectual disability
  • c.77+16G>T Multiple submitters intellectual disability
  • c.77+18T>C Multiple submitters intellectual disability
  • p.Arg373Gln Multiple submitters intellectual disability
  • p.Arg387Trp Multiple submitters intellectual disability ⚠
  • p.Arg3Ser Multiple submitters intellectual disability
  • p.Leu409= Multiple submitters intellectual disability
  • p.Ser450Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr249= Multiple submitters intellectual disability
  • p.Thr397= Multiple submitters intellectual disability
  • p.Thr408Pro Multiple submitters Inborn genetic diseases

Likely benign 233

Uncertain significance 213