KAT2B — 148 ClinVar variants
All ClinVar germline KAT2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
43 Benign · 17 Likely benign · 88 Uncertain significance
Full KAT2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KAT2B p.Ile198Val Uncertain significance Multiple submitters
- KAT2B p.Ala14Val Uncertain significance Single submitter
- KAT2B p.Ala20Val Uncertain significance Single submitter
- KAT2B p.Ala262Ser Uncertain significance Single submitter
- KAT2B p.Ala35Val Uncertain significance Single submitter
- KAT2B p.Ala466Thr Uncertain significance Single submitter
- KAT2B p.Ala73Val Uncertain significance Single submitter
- KAT2B p.Ala76Val Uncertain significance Single submitter
- KAT2B p.Ala88Thr Uncertain significance Single submitter
- KAT2B p.Arg254Cys Uncertain significance Single submitter
- KAT2B p.Arg254His Uncertain significance Single submitter
- KAT2B p.Arg266Gln Uncertain significance Single submitter
- KAT2B p.Arg561His Uncertain significance Single submitter
- KAT2B p.Arg682Gln Uncertain significance Single submitter
- KAT2B p.Asn272Asp Uncertain significance Single submitter
- KAT2B p.Asn397His Uncertain significance Single submitter
- KAT2B p.Asn455Ser Uncertain significance Single submitter
- KAT2B p.Asn779Ser Uncertain significance Single submitter
- KAT2B p.Asp274Tyr Uncertain significance Single submitter
- KAT2B p.Asp366Glu Uncertain significance Single submitter
- KAT2B p.Asp366His Uncertain significance Single submitter
- KAT2B p.Cys52Gly Uncertain significance Single submitter
- KAT2B p.Gln38Leu Uncertain significance Single submitter
- KAT2B p.Glu246Lys Uncertain significance Single submitter
- KAT2B p.Gly21Arg Uncertain significance Single submitter
- KAT2B p.Gly47Arg Uncertain significance Single submitter
- KAT2B p.Gly48Val Uncertain significance Single submitter
- KAT2B p.Gly5Ala Uncertain significance Single submitter
- KAT2B p.Gly687Ala Uncertain significance Single submitter
- KAT2B p.Gly71Ser Uncertain significance Single submitter
- KAT2B p.His435Tyr Uncertain significance Single submitter
- KAT2B p.His588Tyr Uncertain significance Single submitter
- KAT2B p.Ile255Leu Uncertain significance Single submitter
- KAT2B p.Leu673Arg Uncertain significance Single submitter
- KAT2B p.Lys416Asn Uncertain significance Single submitter
- KAT2B p.Lys718Arg Uncertain significance Single submitter
- KAT2B p.Met431Thr Uncertain significance Single submitter
- KAT2B p.Phe563Leu Uncertain significance Single submitter
- KAT2B p.Pro120Ser Uncertain significance Single submitter
- KAT2B p.Pro121Arg Uncertain significance Single submitter
- KAT2B p.Pro22Leu Uncertain significance Single submitter
- KAT2B p.Pro22Ser Uncertain significance Single submitter
- KAT2B p.Pro27Arg Uncertain significance Single submitter
- KAT2B p.Pro299Thr Uncertain significance Single submitter
- KAT2B p.Pro425Ser Uncertain significance Single submitter
- KAT2B p.Pro450Leu Uncertain significance Single submitter
- KAT2B p.Pro507Ser Uncertain significance Single submitter
- KAT2B p.Pro655Leu Uncertain significance Single submitter
- KAT2B p.Pro67Leu Uncertain significance Single submitter
- KAT2B p.Ser395Pro Uncertain significance Single submitter
- KAT2B p.Ser410Gly Uncertain significance Single submitter
- KAT2B p.Ser689Ala Uncertain significance Single submitter
- KAT2B p.Ser689Thr Uncertain significance Single submitter
- KAT2B p.Ser822Asn Uncertain significance Single submitter
- KAT2B p.Ser84Cys Uncertain significance Single submitter
- KAT2B p.Thr243Ala Uncertain significance Single submitter
- KAT2B p.Thr731Met Uncertain significance Single submitter
- KAT2B p.Trp711Arg Uncertain significance Single submitter
- KAT2B p.Val186Ile Uncertain significance Single submitter
- KAT2B p.Val445Leu Uncertain significance Single submitter
- KAT2B p.Val499Gly Uncertain significance Single submitter
- KAT2B p.Val538Ile Uncertain significance Single submitter
-
KAT2B p.Ala466Val
Uncertain significance
No assertion criteria
KAT2B-related disorder
-
KAT2B p.Gly208Ala
Uncertain significance
No assertion criteria
KAT2B-related disorder
-
KAT2B p.Ser434Cys
Uncertain significance
No assertion criteria
KAT2B-related disorder
Predictors split 19
The independent predictors disagree with each other — read with care.
- KAT2B p.Pro713Thr Benign Multiple submitters
- KAT2B p.Arg321Gln Uncertain significance Single submitter
- KAT2B p.Arg444Gln Uncertain significance Single submitter
- KAT2B p.Asn508Asp Uncertain significance Single submitter
- KAT2B p.Asp124His Uncertain significance Single submitter
- KAT2B p.Gln242Arg Uncertain significance Single submitter
- KAT2B p.Glu103Lys Uncertain significance Single submitter
- KAT2B p.Glu302Lys Uncertain significance Single submitter
-
KAT2B p.Ile764Val
Uncertain significance
Single submitter
KAT2B-related disorder
- KAT2B p.Leu816Val Uncertain significance Single submitter
- KAT2B p.Lys441Asn Uncertain significance Single submitter
- KAT2B p.Lys785Glu Uncertain significance Single submitter
- KAT2B p.Lys89Gln Uncertain significance Single submitter
- KAT2B p.Met467Ile Uncertain significance Single submitter
- KAT2B p.Met773Ile Uncertain significance Single submitter
- KAT2B p.Ser479Leu Uncertain significance Single submitter
- KAT2B p.Val695Ile Uncertain significance Single submitter
-
KAT2B p.Arg653Trp
Benign
No assertion criteria
KAT2B-related disorder
-
KAT2B p.Gly62Asp
Likely benign
No assertion criteria
KAT2B-related disorder
All KAT2B variants
Benign 43
- c.1043+115G>A Multiple submitters
- c.1044-72T>C Multiple submitters
- c.1151-47G>T Multiple submitters
- c.1623-40C>G Multiple submitters
- c.1861-37T>C Multiple submitters
- c.1861-98G>T Multiple submitters
- c.2004+48C>T Multiple submitters
- c.2119+152C>T Multiple submitters
- c.2119+86C>T Multiple submitters
- c.2120-6G>A Multiple submitters
- c.2156+87G>A Multiple submitters
- c.303+82T>G Multiple submitters
- c.304-205G>A Multiple submitters
- c.430+38C>A Multiple submitters
- c.430+93T>C Multiple submitters
- c.430+97G>A Multiple submitters
- c.431-110A>T Multiple submitters
- c.431-144C>T Multiple submitters
- c.431-72T>G Multiple submitters
- c.576+59A>G Multiple submitters
- c.577-46A>G Multiple submitters
- c.577-53T>C Multiple submitters
- c.577-53T>G Multiple submitters
- c.577-89G>C Multiple submitters
- c.669+76A>G Multiple submitters
- c.670-113T>C Multiple submitters
- c.670-173G>A Multiple submitters
- c.670-70G>T Multiple submitters
- c.851+60G>C Multiple submitters
- p.Asn290= Multiple submitters
- p.Asn386Ser Multiple submitters
- p.Glu103= Multiple submitters
- p.Leu193= Multiple submitters
- p.Pro713Thr Multiple submitters ⚠
- c.1044-189A>G Single submitter
- c.1044-217A>T Single submitter
- c.1413+185G>A Single submitter
- c.1413+40T>G Single submitter
- c.1414-132G>A Single submitter
- c.1623-127A>G Single submitter
- c.1861-229A>T Single submitter
- c.2306-10dup No assertion criteria KAT2B-related disorder
- p.Arg653Trp No assertion criteria KAT2B-related disorder ⚠
Likely benign 17
- p.Pro406Ser Single submitter
- p.Tyr189= Single submitter
- p.Tyr810= Single submitter
- c.2157-5T>C No assertion criteria KAT2B-related disorder
- c.670-3A>C No assertion criteria KAT2B-related disorder
- c.852-5C>T No assertion criteria KAT2B-related disorder
- c.*8dup No assertion criteria KAT2B-related disorder
- p.Ala14_Gly53del No assertion criteria KAT2B-related disorder
- p.Ala144= No assertion criteria KAT2B-related disorder
- p.Ala477= No assertion criteria KAT2B-related disorder
- p.Asn109= No assertion criteria KAT2B-related disorder
- p.Gly62Asp No assertion criteria KAT2B-related disorder ⚠
- p.Gly694= No assertion criteria KAT2B-related disorder
- p.Lys599= No assertion criteria KAT2B-related disorder
- p.Pro121= No assertion criteria KAT2B-related disorder
- p.Pro725= No assertion criteria KAT2B-related disorder
- p.Ser154= No assertion criteria KAT2B-related disorder
Uncertain significance 88
- p.Ile198Val Multiple submitters ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala20Val Single submitter ⚠
- p.Ala262Ser Single submitter ⚠
- p.Ala35Val Single submitter ⚠
- p.Ala466Thr Single submitter ⚠
- p.Ala73Val Single submitter ⚠
- p.Ala76Val Single submitter ⚠
- p.Ala88fs Single submitter
- p.Ala88Thr Single submitter ⚠
- p.Arg254Cys Single submitter ⚠
- p.Arg254His Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Arg321Gln Single submitter ⚠
- p.Arg339Gln Single submitter
- p.Arg444Gln Single submitter ⚠
- p.Arg561His Single submitter ⚠
- p.Arg682Gln Single submitter ⚠
- p.Arg682Ter Single submitter
- p.Asn272Asp Single submitter ⚠
- p.Asn361fs Single submitter
- p.Asn397His Single submitter ⚠
- p.Asn455Ser Single submitter ⚠
- p.Asn508Asp Single submitter ⚠
- p.Asn779Ser Single submitter ⚠
- p.Asp124His Single submitter ⚠
- p.Asp274Tyr Single submitter ⚠
- p.Asp366Glu Single submitter ⚠
- p.Asp366His Single submitter ⚠
- p.Cys52Gly Single submitter ⚠
- p.Gln242Arg Single submitter ⚠
- p.Gln38Leu Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Glu302Lys Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly47Arg Single submitter ⚠
- p.Gly48Val Single submitter ⚠
- p.Gly5Ala Single submitter ⚠
- p.Gly687Ala Single submitter ⚠
- p.Gly71Ser Single submitter ⚠
- p.His435Tyr Single submitter ⚠
- p.His588Tyr Single submitter ⚠
- p.Ile255Leu Single submitter ⚠
- p.Ile764Val Single submitter KAT2B-related disorder ⚠
- p.Leu673Arg Single submitter ⚠
- p.Leu816Val Single submitter ⚠
- p.Lys416Asn Single submitter ⚠
- p.Lys441Asn Single submitter ⚠
- p.Lys718Arg Single submitter ⚠
- p.Lys785Glu Single submitter ⚠
- p.Lys89Gln Single submitter ⚠
- p.Met1Lys Single submitter
- p.Met431Thr Single submitter ⚠
- p.Met467Ile Single submitter ⚠
- p.Met773Ile Single submitter ⚠
- p.Phe563Leu Single submitter ⚠
- p.Pro120Ser Single submitter ⚠
- p.Pro121Arg Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro22Ser Single submitter ⚠
- p.Pro27Arg Single submitter ⚠
- p.Pro299Thr Single submitter ⚠
- p.Pro425Ser Single submitter ⚠
- p.Pro450Leu Single submitter ⚠
- p.Pro507Ser Single submitter ⚠
- p.Pro655Leu Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Pro725fs Single submitter
- p.Ser395Pro Single submitter ⚠
- p.Ser410Gly Single submitter ⚠
- p.Ser479Leu Single submitter ⚠
- p.Ser689Ala Single submitter ⚠
- p.Ser689Thr Single submitter ⚠
- p.Ser822Asn Single submitter ⚠
- p.Ser84Cys Single submitter ⚠
- p.Thr243Ala Single submitter ⚠
- p.Thr731Met Single submitter ⚠
- p.Trp711Arg Single submitter ⚠
- p.Tyr585fs Single submitter
- p.Val186Ile Single submitter ⚠
- p.Val445Leu Single submitter ⚠
- p.Val499Gly Single submitter ⚠
- p.Val538Ile Single submitter ⚠
- p.Val695Ile Single submitter ⚠
- p.Ala466Val No assertion criteria KAT2B-related disorder ⚠
- p.Gly208Ala No assertion criteria KAT2B-related disorder ⚠
- p.Ser434Cys No assertion criteria KAT2B-related disorder ⚠