KAT5 — 111 ClinVar variants
All ClinVar germline KAT5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 1 Benign · 1 Benign/Likely benign · 15 Likely benign · 87 Uncertain significance
Full KAT5 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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KAT5 p.Cys379Tyr
Conflicting
Single submitter
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- KAT5 p.Gly160Arg Conflicting Single submitter
Predictors lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KAT5 p.Gln310His
Uncertain significance
Multiple submitters
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
-
KAT5 p.Ser223Leu
Uncertain significance
Multiple submitters
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
-
KAT5 p.Thr180Met
Uncertain significance
Multiple submitters
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- KAT5 p.Ala130Val Uncertain significance Single submitter
- KAT5 p.Ala200Asp Uncertain significance Single submitter
- KAT5 p.Ala209Pro Uncertain significance Single submitter
- KAT5 p.Ala209Thr Uncertain significance Single submitter
-
KAT5 p.Ala401Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
-
KAT5 p.Arg304Cys
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- KAT5 p.Arg319Gln Uncertain significance Single submitter
- KAT5 p.Arg328Gly Uncertain significance Single submitter
- KAT5 p.Asn150Thr Uncertain significance Single submitter
- KAT5 p.Asp69Asn Uncertain significance Single submitter
- KAT5 p.Gln53Glu Uncertain significance Single submitter
- KAT5 p.Glu196Lys Uncertain significance Single submitter
- KAT5 p.Glu39Lys Uncertain significance Single submitter
-
KAT5 p.Glu3Asp
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- KAT5 p.Glu511Asp Uncertain significance Single submitter
- KAT5 p.Gly136Arg Uncertain significance Single submitter
- KAT5 p.Gly160Ser Uncertain significance Single submitter
- KAT5 p.Gly43Ala Uncertain significance Single submitter
- KAT5 p.Gly467Ala Uncertain significance Single submitter
- KAT5 p.Gly516Ser Uncertain significance Single submitter
- KAT5 p.His93Arg Uncertain significance Single submitter
- KAT5 p.His93Leu Uncertain significance Single submitter
- KAT5 p.Ile419Met Uncertain significance Single submitter
- KAT5 p.Ile70Phe Uncertain significance Single submitter
- KAT5 p.Leu173Pro Uncertain significance Single submitter
- KAT5 p.Leu295Val Uncertain significance Single submitter
- KAT5 p.Leu439Phe Uncertain significance Single submitter
- KAT5 p.Leu522Ile Uncertain significance Single submitter
-
KAT5 p.Leu525His
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- KAT5 p.Lys431Arg Uncertain significance Single submitter
- KAT5 p.Lys523Arg Uncertain significance Single submitter
- KAT5 p.Lys531Arg Uncertain significance Single submitter
- KAT5 p.Lys545Arg Uncertain significance Single submitter
- KAT5 p.Pro142Leu Uncertain significance Single submitter
- KAT5 p.Pro159Leu Uncertain significance Single submitter
- KAT5 p.Pro189Leu Uncertain significance Single submitter
- KAT5 p.Pro192Leu Uncertain significance Single submitter
- KAT5 p.Pro217Thr Uncertain significance Single submitter
- KAT5 p.Pro240Leu Uncertain significance Single submitter
- KAT5 p.Pro277Leu Uncertain significance Single submitter
- KAT5 p.Ser131Leu Uncertain significance Single submitter
- KAT5 p.Ser135Ile Uncertain significance Single submitter
- KAT5 p.Ser169Cys Uncertain significance Single submitter
- KAT5 p.Ser71Thr Uncertain significance Single submitter
- KAT5 p.Thr112Pro Uncertain significance Single submitter
- KAT5 p.Thr138Ile Uncertain significance Single submitter
- KAT5 p.Thr180Ala Uncertain significance Single submitter
- KAT5 p.Thr395Met Uncertain significance Single submitter
- KAT5 p.Val186Leu Uncertain significance Single submitter
- KAT5 p.Val193Met Uncertain significance Single submitter
- KAT5 p.Val259Ile Uncertain significance Single submitter
- KAT5 p.Val514Met Uncertain significance Single submitter
-
KAT5 p.Thr395Ala
Uncertain significance
No assertion criteria
KAT5-related disorder
Predictors split 15
The independent predictors disagree with each other — read with care.
-
KAT5 p.Arg120Leu
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- KAT5 p.Arg126Gly Uncertain significance Single submitter
-
KAT5 p.Arg219Gln
Uncertain significance
Single submitter
KAT5-related disorder
- KAT5 p.Arg45His Uncertain significance Single submitter
- KAT5 p.Asp512Asn Uncertain significance Single submitter
- KAT5 p.Asp54Gly Uncertain significance Single submitter
-
KAT5 p.Cys355Tyr
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
-
KAT5 p.Glu457Lys
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- KAT5 p.Ile81Thr Uncertain significance Single submitter
-
KAT5 p.Met460Ile
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- KAT5 p.Met521Thr Conflicting Single submitter
- KAT5 p.Pro104Ala Uncertain significance Single submitter
- KAT5 p.Pro243Leu Uncertain significance Single submitter
- KAT5 p.Ser464Leu Uncertain significance Single submitter
- KAT5 p.Val78Ile Uncertain significance Single submitter
All KAT5 variants
Pathogenic 3
- p.Arg86His No assertion criteria neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- p.Cys402Ser No assertion criteria neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- p.Ser446Ala No assertion criteria neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Likely pathogenic 1
- p.Arg86Cys Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Conflicting classifications of pathogenicity 3
- p.Cys379Tyr Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Gly160Arg Single submitter ⚠
- p.Met521Thr Single submitter ⚠
Benign 1
- p.Ser66= Multiple submitters
Benign/Likely benign 1
- p.Gly43= Multiple submitters
Likely benign 15
- p.Thr432= Multiple submitters
- c.1029+10T>C Single submitter
- c.1424+26G>T Single submitter
- c.179-7C>T Single submitter
- c.940-11C>T Single submitter
- p.Cys172Ter Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- p.Glu162Lys Single submitter
- p.Ile513= Single submitter
- p.Leu49= Single submitter
- p.Pro159= Single submitter
- p.Pro204= Single submitter
- p.Pro47= Single submitter
- p.Ser201= Single submitter
- p.Ser236= Single submitter
- c.615+7T>A No assertion criteria KAT5-related disorder
Uncertain significance 87
- p.Cys308Ser Multiple submitters neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- p.Gln310His Multiple submitters neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Ser223Leu Multiple submitters neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Thr180Met Multiple submitters neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Val32Asp Multiple submitters KAT5-related disorder
- c.1264+3_1264+6del Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- c.690+7C>T Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- p.Ala130Val Single submitter ⚠
- p.Ala200Asp Single submitter ⚠
- p.Ala209Pro Single submitter ⚠
- p.Ala209Thr Single submitter ⚠
- p.Ala401Thr Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Arg120Leu Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Arg126Gly Single submitter ⚠
- p.Arg219Gln Single submitter KAT5-related disorder ⚠
- p.Arg304Cys Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg328Gly Single submitter ⚠
- p.Arg448Ter Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- p.Arg45His Single submitter ⚠
- p.Asn150Thr Single submitter ⚠
- p.Asp29Glu Single submitter
- p.Asp512Asn Single submitter ⚠
- p.Asp54Gly Single submitter ⚠
- p.Asp69Asn Single submitter ⚠
- p.Cys355Tyr Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Gln53Glu Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Glu391fs Single submitter
- p.Glu39Lys Single submitter ⚠
- p.Glu3Asp Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Glu457Lys Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Glu511Asp Single submitter ⚠
- p.Gly136Arg Single submitter ⚠
- p.Gly160Ser Single submitter ⚠
- p.Gly17Trp Single submitter
- p.Gly323= Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- p.Gly43Ala Single submitter ⚠
- p.Gly467Ala Single submitter ⚠
- p.Gly516Ser Single submitter ⚠
- p.His93Arg Single submitter ⚠
- p.His93Leu Single submitter ⚠
- p.Ile419Met Single submitter ⚠
- p.Ile70Phe Single submitter ⚠
- p.Ile81Thr Single submitter ⚠
- p.Leu173Pro Single submitter ⚠
- p.Leu295Val Single submitter ⚠
- p.Leu439Phe Single submitter ⚠
- p.Leu522Ile Single submitter ⚠
- p.Leu525His Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Lys431Arg Single submitter ⚠
- p.Lys523Arg Single submitter ⚠
- p.Lys531Arg Single submitter ⚠
- p.Lys545Arg Single submitter ⚠
- p.Lys68_Asp69insGlu Single submitter
- p.Met460Ile Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ⚠
- p.Pro104Ala Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro175fs Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- p.Pro189Leu Single submitter ⚠
- p.Pro192Leu Single submitter ⚠
- p.Pro217Thr Single submitter ⚠
- p.Pro240Leu Single submitter ⚠
- p.Pro243Leu Single submitter ⚠
- p.Pro277Leu Single submitter ⚠
- p.Pro7Ala Single submitter
- p.Pro7Leu Single submitter
- p.Pro7Ser Single submitter
- p.Ser131Leu Single submitter ⚠
- p.Ser135Ile Single submitter ⚠
- p.Ser169Cys Single submitter ⚠
- p.Ser464Leu Single submitter ⚠
- p.Ser541Thr Single submitter neurodevelopmental disorder
- p.Ser71Thr Single submitter ⚠
- p.Thr112Pro Single submitter ⚠
- p.Thr138Ile Single submitter ⚠
- p.Thr180= Single submitter neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- p.Thr180Ala Single submitter ⚠
- p.Thr395Met Single submitter ⚠
- p.Val186Leu Single submitter ⚠
- p.Val193Met Single submitter ⚠
- p.Val259Ile Single submitter ⚠
- p.Val27Ile Single submitter
- p.Val514Met Single submitter ⚠
- p.Val78Ile Single submitter ⚠
- p.Thr395Ala No assertion criteria KAT5-related disorder ⚠