KAT2A — 83 ClinVar variants
All ClinVar germline KAT2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
1 Likely pathogenic · 5 Benign · 3 Likely benign · 74 Uncertain significance
Full KAT2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KAT2A p.Ala274Val Uncertain significance Single submitter
- KAT2A p.Ala426Val Uncertain significance Single submitter
- KAT2A p.Ala53Ser Uncertain significance Single submitter
- KAT2A p.Ala53Val Uncertain significance Single submitter
- KAT2A p.Arg171Gly Uncertain significance Single submitter
- KAT2A p.Arg17Trp Uncertain significance Single submitter
- KAT2A p.Arg214Trp Uncertain significance Single submitter
- KAT2A p.Arg310His Uncertain significance Single submitter
- KAT2A p.Arg323Gln Uncertain significance Single submitter
- KAT2A p.Arg514Gln Uncertain significance Single submitter
- KAT2A p.Arg558Gln Uncertain significance Single submitter
- KAT2A p.Arg785His Uncertain significance Single submitter
- KAT2A p.Arg790Gln Uncertain significance Single submitter
- KAT2A p.Arg99His Uncertain significance Single submitter
- KAT2A p.Asn483Ser Uncertain significance Single submitter
- KAT2A p.Asp156His Uncertain significance Single submitter
- KAT2A p.Asp729Tyr Uncertain significance Single submitter
- KAT2A p.Asp796Tyr Uncertain significance Single submitter
- KAT2A p.Asp836Glu Uncertain significance Single submitter
- KAT2A p.Cys118Ser Uncertain significance Single submitter
- KAT2A p.Cys653Arg Uncertain significance Single submitter
- KAT2A p.Gln15Leu Uncertain significance Single submitter
- KAT2A p.Glu347Lys Uncertain significance Single submitter
- KAT2A p.Glu427Lys Uncertain significance Single submitter
- KAT2A p.Gly414Ser Uncertain significance Single submitter
- KAT2A p.Gly505Ser Uncertain significance Single submitter
- KAT2A p.Ile504Val Uncertain significance Single submitter
- KAT2A p.Ile675Leu Uncertain significance Single submitter
- KAT2A p.Leu265Pro Uncertain significance Single submitter
- KAT2A p.Leu594Pro Uncertain significance Single submitter
- KAT2A p.Lys127Gln Uncertain significance Single submitter
- KAT2A p.Lys828Arg Uncertain significance Single submitter
- KAT2A p.Pro10Ala Uncertain significance Single submitter
- KAT2A p.Pro215Ser Uncertain significance Single submitter
- KAT2A p.Pro46Ala Uncertain significance Single submitter
- KAT2A p.Pro4Arg Uncertain significance Single submitter
- KAT2A p.Pro691Ser Uncertain significance Single submitter
- KAT2A p.Pro98Ser Uncertain significance Single submitter
- KAT2A p.Ser410Ile Uncertain significance Single submitter
- KAT2A p.Ser636Asn Uncertain significance Single submitter
- KAT2A p.Thr117Asn Uncertain significance Single submitter
- KAT2A p.Thr27Ala Uncertain significance Single submitter
- KAT2A p.Thr29Asn Uncertain significance Single submitter
- KAT2A p.Thr404Ser Uncertain significance Single submitter
- KAT2A p.Thr435Met Uncertain significance Single submitter
- KAT2A p.Thr509Arg Uncertain significance Single submitter
- KAT2A p.Thr509Met Uncertain significance Single submitter
- KAT2A p.Thr570Ser Uncertain significance Single submitter
- KAT2A p.Thr735Ser Uncertain significance Single submitter
- KAT2A p.Thr777Ile Uncertain significance Single submitter
- KAT2A p.Val328Ile Uncertain significance Single submitter
- KAT2A p.Val400Ile Uncertain significance Single submitter
- KAT2A p.Val705Leu Uncertain significance Single submitter
- KAT2A p.Val708Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- KAT2A p.Arg251Trp Uncertain significance Single submitter
- KAT2A p.Arg338Gln Uncertain significance Single submitter
- KAT2A p.Arg447Trp Uncertain significance Single submitter
- KAT2A p.Arg449Cys Uncertain significance Single submitter
- KAT2A p.Arg496His Uncertain significance Single submitter
- KAT2A p.Arg637His Uncertain significance Single submitter
- KAT2A p.Arg658Cys Uncertain significance Single submitter
- KAT2A p.Arg681Gly Uncertain significance Single submitter
- KAT2A p.Arg785Leu Uncertain significance Single submitter
- KAT2A p.Glu376Lys Uncertain significance Single submitter
- KAT2A p.Gly68Trp Uncertain significance Single submitter
- KAT2A p.Ile703Val Uncertain significance Single submitter
- KAT2A p.Lys623Arg Uncertain significance Single submitter
- KAT2A p.Met472Ile Uncertain significance Single submitter
- KAT2A p.Pro40Arg Uncertain significance Single submitter
- KAT2A p.Pro810Leu Uncertain significance Single submitter
- KAT2A p.Ser707Asn Uncertain significance Single submitter
- KAT2A p.Ser812Asn Uncertain significance Single submitter
- KAT2A p.Val450Ala Uncertain significance Single submitter
All KAT2A variants
Likely pathogenic 1
- p.Leu678_Gln685del Single submitter
Benign 5
- c.464-18C>G Multiple submitters
- p.Leu664= Multiple submitters
- p.Leu719= Multiple submitters
- c.1181-33_1186del Single submitter
- p.Ser760= Single submitter
Likely benign 3
- p.Glu780= Single submitter
- p.Gly724= Single submitter
- p.Pro153Leu Single submitter
Uncertain significance 74
- p.Ala274Val Single submitter ⚠
- p.Ala426Val Single submitter ⚠
- p.Ala53Ser Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Arg171Gly Single submitter ⚠
- p.Arg17Trp Single submitter ⚠
- p.Arg214Trp Single submitter ⚠
- p.Arg251Trp Single submitter ⚠
- p.Arg310His Single submitter ⚠
- p.Arg323Gln Single submitter ⚠
- p.Arg338Gln Single submitter ⚠
- p.Arg447Trp Single submitter ⚠
- p.Arg449Cys Single submitter ⚠
- p.Arg496His Single submitter ⚠
- p.Arg514Gln Single submitter ⚠
- p.Arg558Gln Single submitter ⚠
- p.Arg637His Single submitter ⚠
- p.Arg658Cys Single submitter ⚠
- p.Arg681Gly Single submitter ⚠
- p.Arg785Cys Single submitter
- p.Arg785His Single submitter ⚠
- p.Arg785Leu Single submitter ⚠
- p.Arg790Gln Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Asn483Ser Single submitter ⚠
- p.Asp156His Single submitter ⚠
- p.Asp729Tyr Single submitter ⚠
- p.Asp796Tyr Single submitter ⚠
- p.Asp836Glu Single submitter ⚠
- p.Cys118Ser Single submitter ⚠
- p.Cys653Arg Single submitter ⚠
- p.Gln15Leu Single submitter ⚠
- p.Glu347Lys Single submitter ⚠
- p.Glu376Lys Single submitter ⚠
- p.Glu427Lys Single submitter ⚠
- p.Gly414Ser Single submitter ⚠
- p.Gly505Ser Single submitter ⚠
- p.Gly68Trp Single submitter ⚠
- p.Ile504Val Single submitter ⚠
- p.Ile675Leu Single submitter ⚠
- p.Ile703Val Single submitter ⚠
- p.Leu265Pro Single submitter ⚠
- p.Leu594Pro Single submitter ⚠
- p.Lys127Gln Single submitter ⚠
- p.Lys623Arg Single submitter ⚠
- p.Lys828Arg Single submitter ⚠
- p.Met472Ile Single submitter ⚠
- p.Pro10Ala Single submitter ⚠
- p.Pro215Ser Single submitter ⚠
- p.Pro40Arg Single submitter ⚠
- p.Pro46Ala Single submitter ⚠
- p.Pro4Arg Single submitter ⚠
- p.Pro691Ser Single submitter ⚠
- p.Pro810Leu Single submitter ⚠
- p.Pro98Ser Single submitter ⚠
- p.Ser410Ile Single submitter ⚠
- p.Ser636Asn Single submitter ⚠
- p.Ser707Asn Single submitter ⚠
- p.Ser812Asn Single submitter ⚠
- p.Thr117Asn Single submitter ⚠
- p.Thr27Ala Single submitter ⚠
- p.Thr29Asn Single submitter ⚠
- p.Thr404Ser Single submitter ⚠
- p.Thr435Met Single submitter ⚠
- p.Thr509Arg Single submitter ⚠
- p.Thr509Met Single submitter ⚠
- p.Thr570Ser Single submitter ⚠
- p.Thr735Ser Single submitter ⚠
- p.Thr777Ile Single submitter ⚠
- p.Val328Ile Single submitter ⚠
- p.Val400Ile Single submitter ⚠
- p.Val450Ala Single submitter ⚠
- p.Val705Leu Single submitter ⚠
- p.Val708Ile Single submitter ⚠