Sugi Variant

Sugi Variant/ARID1A

ARID1A — 1871 ClinVar variants

All ClinVar germline ARID1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 812 flagged for review →

90 Pathogenic · 4 Pathogenic/Likely pathogenic · 60 Likely pathogenic · 115 Conflicting · 167 Benign · 92 Benign/Likely benign · 554 Likely benign · 789 Uncertain significance

Full ARID1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 812

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 6

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

Predictors agree, ClinVar conflicts 77

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 464

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 464

Predictors split 263

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 263

All ARID1A variants

Pathogenic 90

  • p.Ala339fs Multiple submitters intellectual disability, autosomal dominant 14
  • p.Gln450Ter Multiple submitters intellectual disability, autosomal dominant 14
  • p.Gln548Ter Multiple submitters intellectual disability, autosomal dominant 14
  • p.Gln56Ter Multiple submitters ARID1A-related BAFopathy
  • p.Lys2045fs Multiple submitters intellectual disability, autosomal dominant 14
  • p.Ser11fs Multiple submitters intellectual disability, autosomal dominant 14
  • c.2879-1G>A Single submitter intellectual disability, autosomal dominant 14
  • c.2988+1G>A Single submitter
  • p.Ala1522fs Single submitter
  • p.Ala160fs Single submitter intellectual disability, autosomal dominant 14
  • p.Ala718fs Single submitter ARID1A-related disorder
  • p.Arg1020Trp Single submitter intellectual disability, autosomal dominant 14
  • p.Arg1276Ter Single submitter Inborn genetic diseases
  • p.Arg1335Ter Single submitter Coffin-Siris syndrome 1
  • p.Arg1528Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Arg1722Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Arg1989Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Asn1571fs Single submitter
  • p.Asn1784fs Single submitter
  • p.Asp972fs Single submitter ARID1A-related BAFopathy
  • p.Gln1066Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Gln1363Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Gln1856Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Gln2070fs Single submitter
  • p.Gln2209Ter Single submitter septooptic dysplasia
  • p.Gln321Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Gln403Ter Single submitter
  • p.Gln464Ter Single submitter
  • p.Gln503Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Gln594fs Single submitter ARID1A-related disorder
  • p.Gln708Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Gln766Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Gln775Ter Single submitter urinary bladder cancer
  • p.Gln802fs Single submitter intellectual disability, autosomal dominant 14
  • p.Glu1726Ter Single submitter ARID1A-related disorder
  • p.Glu1777Ter Single submitter Inborn genetic diseases
  • p.Glu1864fs Single submitter Inborn genetic diseases
  • p.Glu59Ter Single submitter non-immune hydrops fetalis
  • p.Gly1062Val Single submitter
  • p.Gly1317Ter Single submitter
  • p.Gly95fs Single submitter intellectual disability, autosomal dominant 14
  • p.His137fs Single submitter ARID1A-related disorder
  • p.Leu1744fs Single submitter intellectual disability, autosomal dominant 14
  • p.Leu657fs Single submitter intellectual disability, autosomal dominant 14
  • p.Met50Ter Single submitter
  • p.Pro1898fs Single submitter intellectual disability, autosomal dominant 14
  • p.Pro570fs Single submitter ARID1A-related BAFopathy
  • p.Ser1755delinsValTer Single submitter intellectual disability, autosomal dominant 14
  • p.Ser1755fs Single submitter
  • p.Ser258fs Single submitter intellectual disability, autosomal dominant 14
  • p.Ser617Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Ser715Ter Single submitter ARID1A-related disorder
  • p.Thr1031fs Single submitter intellectual disability, autosomal dominant 14
  • p.Trp1844Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Tyr222Ter Single submitter
  • p.Tyr308fs Single submitter intellectual disability, autosomal dominant 14
  • p.Tyr417Ter Single submitter Inborn genetic diseases
  • p.Tyr485fs Single submitter
  • p.Tyr534Ter Single submitter intellectual disability, autosomal dominant 14
  • p.Val132fs Single submitter intellectual disability, autosomal dominant 14
  • p.Val1526fs Single submitter
  • p.Val1982fs Single submitter intellectual disability, autosomal dominant 14
  • p.Arg1287Ter No assertion criteria ARID1A-related disorder
  • p.Gln1330Ter No assertion criteria urinary bladder cancer
  • p.Gln1358Ter No assertion criteria urinary bladder cancer
  • p.Gln1420Ter No assertion criteria urinary bladder cancer
  • p.Gln1458Ter No assertion criteria urinary bladder cancer
  • p.Gln1479Ter No assertion criteria urinary bladder cancer
  • p.Gln1631Ter No assertion criteria urinary bladder cancer
  • p.Gln171Ter No assertion criteria urinary bladder cancer
  • p.Gln372fs No assertion criteria intellectual disability, autosomal dominant 14
  • p.Gln404Ter No assertion criteria urinary bladder cancer
  • p.Gln529Ter No assertion criteria urinary bladder cancer
  • p.Gln605Ter No assertion criteria urinary bladder cancer
  • p.Gln670Ter No assertion criteria urinary bladder cancer
  • p.Gln758Ter No assertion criteria urinary bladder cancer
  • p.Gln812Ter No assertion criteria urinary bladder cancer
  • p.Gln878Ter No assertion criteria urinary bladder cancer
  • p.Gln895Ter No assertion criteria urinary bladder cancer
  • p.Gln920Ter No assertion criteria intellectual disability, autosomal dominant 14
  • p.Glu1227Ter No assertion criteria intellectual disability, autosomal dominant 14
  • p.Gly466fs No assertion criteria
  • p.Lys1021Glu No assertion criteria Coffin-Siris syndrome
  • p.Lys1905fs No assertion criteria colorectal cancer
  • p.Pro1563_Met1564insTer No assertion criteria colorectal cancer
  • p.Pro1876fs No assertion criteria ARID1A-related disorder
  • p.Trp1686Ter No assertion criteria urinary bladder cancer
  • p.Trp1973Ter No assertion criteria urinary bladder cancer
  • p.Trp2048Ter No assertion criteria urinary bladder cancer
  • p.Val1067fs No assertion criteria Coffin-Siris syndrome

Pathogenic/Likely pathogenic 4

  • p.Ala1077Glu Multiple submitters intellectual disability, autosomal dominant 14
  • p.Leu1011Phe Multiple submitters intellectual disability, autosomal dominant 14
  • p.Trp1023Arg Multiple submitters intellectual disability, autosomal dominant 14
  • p.Tyr1096Cys Multiple submitters intellectual disability, autosomal dominant 14

Likely pathogenic 60

Conflicting classifications of pathogenicity 115

Benign 167

Benign/Likely benign 92

Likely benign 554

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

Uncertain significance 789

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