KAT8 — 150 ClinVar variants
All ClinVar germline KAT8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
7 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 3 Benign · 14 Likely benign · 121 Uncertain significance
Full KAT8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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KAT8 p.Arg144His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KAT8 p.Ala47Glu
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
-
KAT8 p.Ala8Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Arg233Trp
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
-
KAT8 p.Arg242Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Arg242Pro
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
-
KAT8 p.Arg326His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Arg362Cys
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
- KAT8 p.Arg362His Uncertain significance Single submitter
- KAT8 p.Arg374Leu Uncertain significance Single submitter
-
KAT8 p.Arg374Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Arg377Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Arg64Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Asp105Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Asp190Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Asp252Glu Uncertain significance Single submitter
-
KAT8 p.Asp310Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Asp67His
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
-
KAT8 p.Cys63Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Gln4His
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Glu124Asp Uncertain significance Single submitter
- KAT8 p.Glu124Gly Uncertain significance Single submitter
-
KAT8 p.Glu129Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Glu20Gln Uncertain significance Single submitter
-
KAT8 p.Glu239Gly
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
- KAT8 p.Glu239Lys Uncertain significance Single submitter
-
KAT8 p.Glu423Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Gly185Glu Uncertain significance Single submitter
-
KAT8 p.Gly24Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Gly26Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Gly33Ala Uncertain significance Single submitter
- KAT8 p.Gly33Arg Uncertain significance Single submitter
-
KAT8 p.Gly378Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Gly49Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.His146Arg Uncertain significance Single submitter
- KAT8 p.His226Pro Uncertain significance Single submitter
-
KAT8 p.His256Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Ile240Phe Uncertain significance Single submitter
-
KAT8 p.Ile396Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Ile57Val
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
- KAT8 p.Leu276Gln Uncertain significance Single submitter
- KAT8 p.Lys181Glu Uncertain significance Single submitter
- KAT8 p.Lys206Arg Uncertain significance Single submitter
- KAT8 p.Lys221Asn Uncertain significance Single submitter
- KAT8 p.Lys257Glu Uncertain significance Single submitter
- KAT8 p.Lys351Asn Uncertain significance Single submitter
- KAT8 p.Pro235Arg Uncertain significance Single submitter
-
KAT8 p.Pro282Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Pro321Ala Uncertain significance Single submitter
-
KAT8 p.Pro321His
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Pro322Leu Uncertain significance Single submitter
-
KAT8 p.Pro349Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Pro43Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Pro44Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Pro66Leu Uncertain significance Single submitter
- KAT8 p.Ser354Cys Uncertain significance Single submitter
-
KAT8 p.Ser428Arg
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
-
KAT8 p.Thr418Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Thr45Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Trp70Gly Uncertain significance Single submitter
- KAT8 p.Tyr241Ser Uncertain significance Single submitter
-
KAT8 p.Val115Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Val251Ile
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
- KAT8 p.Val251Leu Uncertain significance Single submitter
-
KAT8 p.Val284Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Val299Phe
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
- KAT8 p.Val94Leu Uncertain significance Single submitter
-
KAT8 p.Ile189Thr
Uncertain significance
No assertion criteria
KAT8-related disorder
-
KAT8 p.Pro322Ala
Uncertain significance
No assertion criteria
Li-Ghorbani-Weisz-Hubshman syndrome
Predictors split 23
The independent predictors disagree with each other — read with care.
-
KAT8 p.Gly19Arg
Uncertain significance
Multiple submitters
Li-Ghorbani-Weisz-Hubshman syndrome
- KAT8 p.Ala11Val Uncertain significance Single submitter
- KAT8 p.Ala165Thr Uncertain significance Single submitter
-
KAT8 p.Arg224Cys
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
-
KAT8 p.Arg233Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KAT8 p.Arg293Trp
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
- KAT8 p.Arg377Gln Uncertain significance Single submitter
-
KAT8 p.Arg40His
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Arg64Trp Uncertain significance Single submitter
- KAT8 p.Asp82Gly Uncertain significance Single submitter
- KAT8 p.Glu307Lys Uncertain significance Single submitter
- KAT8 p.Glu32Lys Uncertain significance Single submitter
-
KAT8 p.Gly16Val
Uncertain significance
Single submitter
Li-Ghorbani-Weisz-Hubshman syndrome
- KAT8 p.Gly5Arg Uncertain significance Single submitter
-
KAT8 p.Ile184Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Leu166Met Uncertain significance Single submitter
- KAT8 p.Lys143Arg Uncertain significance Single submitter
- KAT8 p.Phe331Leu Uncertain significance Single submitter
-
KAT8 p.Pro309Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KAT8 p.Pro309Ser Uncertain significance Single submitter
- KAT8 p.Ser37Cys Uncertain significance Single submitter
- KAT8 p.Thr60Ala Uncertain significance Single submitter
- KAT8 p.Val91Ile Uncertain significance Single submitter
All KAT8 variants
Pathogenic 7
- p.Arg140Cys Single submitter Inborn genetic diseases
- p.Arg99Trp Single submitter
- p.His92Arg Single submitter Li-Ghorbani-Weisz-Hubshman syndrome
- p.Arg98Gln No assertion criteria Li-Ghorbani-Weisz-Hubshman syndrome
- p.Arg99Gln No assertion criteria
- p.Lys175Glu No assertion criteria Li-Ghorbani-Weisz-Hubshman syndrome
- p.Lys181Asn No assertion criteria Li-Ghorbani-Weisz-Hubshman syndrome
Likely pathogenic 4
- p.Tyr90Cys Multiple submitters Li-Ghorbani-Weisz-Hubshman syndrome
- p.Arg108Trp Single submitter
- p.Lys175Thr Single submitter Li-Ghorbani-Weisz-Hubshman syndrome
- p.Met217Leu No assertion criteria Li-Ghorbani-Weisz-Hubshman syndrome
Conflicting classifications of pathogenicity 1
- c.1312+24C>G Single submitter Li-Ghorbani-Weisz-Hubshman syndrome
Benign 3
- p.Leu370= Multiple submitters
- p.Pro352= Multiple submitters
- c.1312+50A>G No assertion criteria KAT8-related disorder
Likely benign 14
- c.1312+17T>G Single submitter
- c.1312+25G>A Single submitter
- c.1312+35G>C Single submitter Inborn genetic diseases
- c.1312+48A>G Single submitter Inborn genetic diseases
- c.1312+54A>T Single submitter Inborn genetic diseases
- c.463-4C>G Single submitter Inborn genetic diseases
- p.Ala172= Single submitter Inborn genetic diseases
- p.Arg326= Single submitter
- p.Glu56= Single submitter
- p.Gly39Ser Single submitter Inborn genetic diseases
- p.Met405Thr Single submitter Li-Ghorbani-Weisz-Hubshman syndrome
- p.Pro235= Single submitter
- p.Tyr241Cys Single submitter Inborn genetic diseases
- c.1312+10G>T No assertion criteria
Uncertain significance 121
- p.Ala18_Gly19insAlaGlyThrSerGlyValAla Multiple submitters Inborn genetic diseases
- p.Arg144His Multiple submitters Inborn genetic diseases ⚠
- p.Gly19Arg Multiple submitters Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Lys203Ter Multiple submitters
- c.1006+5G>C Single submitter KAT8-related disorder
- c.1157+6G>A Single submitter
- c.1311_1312+2del Single submitter
- c.1312+12dup Single submitter
- c.1312+12G>A Single submitter Inborn genetic diseases
- c.1312+16C>G Single submitter Inborn genetic diseases
- c.1312+25G>C Single submitter Inborn genetic diseases
- c.1312+31G>A Single submitter Inborn genetic diseases
- c.1312+34G>C Single submitter
- c.1312+58G>A Single submitter Inborn genetic diseases
- c.1312+82C>G Single submitter Inborn genetic diseases
- c.212-2A>G Single submitter Paediatric disorders
- c.287-3C>A Single submitter
- c.463-1G>A Single submitter
- c.517-1G>T Single submitter
- c.771+1G>T Single submitter
- p.Ala11Val Single submitter ⚠
- p.Ala165Thr Single submitter ⚠
- p.Ala47Glu Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Ala8Gly Single submitter Inborn genetic diseases ⚠
- p.Arg224Cys Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Arg233Gln Single submitter Inborn genetic diseases ⚠
- p.Arg233Trp Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Arg242Cys Single submitter Inborn genetic diseases ⚠
- p.Arg242Pro Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Arg293Trp Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Arg326His Single submitter Inborn genetic diseases ⚠
- p.Arg362Cys Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Arg362His Single submitter ⚠
- p.Arg374Leu Single submitter ⚠
- p.Arg374Trp Single submitter Inborn genetic diseases ⚠
- p.Arg377Gln Single submitter ⚠
- p.Arg377Trp Single submitter Inborn genetic diseases ⚠
- p.Arg40His Single submitter Inborn genetic diseases ⚠
- p.Arg64Gln Single submitter Inborn genetic diseases ⚠
- p.Arg64Trp Single submitter ⚠
- p.Asp105Glu Single submitter Inborn genetic diseases ⚠
- p.Asp190Gly Single submitter Inborn genetic diseases ⚠
- p.Asp252Glu Single submitter ⚠
- p.Asp310Asn Single submitter Inborn genetic diseases ⚠
- p.Asp67His Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Asp82Gly Single submitter ⚠
- p.Cys210_Glu211delinsTer Single submitter
- p.Cys63Ser Single submitter Inborn genetic diseases ⚠
- p.Gln4His Single submitter Inborn genetic diseases ⚠
- p.Glu124Asp Single submitter ⚠
- p.Glu124Gly Single submitter ⚠
- p.Glu129Lys Single submitter Inborn genetic diseases ⚠
- p.Glu20Gln Single submitter ⚠
- p.Glu239Gly Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Glu239Lys Single submitter ⚠
- p.Glu27_Asn28delinsGlyAsp Single submitter
- p.Glu307Lys Single submitter ⚠
- p.Glu32Lys Single submitter ⚠
- p.Glu423Gln Single submitter Inborn genetic diseases ⚠
- p.Gly16Val Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Gly185Glu Single submitter ⚠
- p.Gly24Arg Single submitter Inborn genetic diseases ⚠
- p.Gly26Arg Single submitter Inborn genetic diseases ⚠
- p.Gly33Ala Single submitter ⚠
- p.Gly33Arg Single submitter ⚠
- p.Gly357fs Single submitter
- p.Gly378Ser Single submitter Inborn genetic diseases ⚠
- p.Gly49Asp Single submitter Inborn genetic diseases ⚠
- p.Gly5Arg Single submitter ⚠
- p.His146Arg Single submitter ⚠
- p.His226Pro Single submitter ⚠
- p.His256Arg Single submitter Inborn genetic diseases ⚠
- p.Ile184Val Single submitter Inborn genetic diseases ⚠
- p.Ile240Phe Single submitter ⚠
- p.Ile396Thr Single submitter Inborn genetic diseases ⚠
- p.Ile57Val Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Leu166Met Single submitter ⚠
- p.Leu276Gln Single submitter ⚠
- p.Lys125fs Single submitter
- p.Lys143Arg Single submitter ⚠
- p.Lys181Glu Single submitter ⚠
- p.Lys206Arg Single submitter ⚠
- p.Lys221Asn Single submitter ⚠
- p.Lys257Glu Single submitter ⚠
- p.Lys351_Lys358delinsHisSerArg Single submitter
- p.Lys351Asn Single submitter ⚠
- p.Phe331Leu Single submitter ⚠
- p.Pro235Arg Single submitter ⚠
- p.Pro23fs Single submitter
- p.Pro282Leu Single submitter Inborn genetic diseases ⚠
- p.Pro309Leu Single submitter Inborn genetic diseases ⚠
- p.Pro309Ser Single submitter ⚠
- p.Pro321Ala Single submitter ⚠
- p.Pro321His Single submitter Inborn genetic diseases ⚠
- p.Pro322Leu Single submitter ⚠
- p.Pro349Leu Single submitter Inborn genetic diseases ⚠
- p.Pro43Ser Single submitter Inborn genetic diseases ⚠
- p.Pro44Leu Single submitter Inborn genetic diseases ⚠
- p.Pro66Leu Single submitter ⚠
- p.Ser354Cys Single submitter ⚠
- p.Ser37Cys Single submitter ⚠
- p.Ser428Arg Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Thr418Ile Single submitter Inborn genetic diseases ⚠
- p.Thr45Ala Single submitter Inborn genetic diseases ⚠
- p.Thr60= Single submitter
- p.Thr60Ala Single submitter ⚠
- p.Trp70Gly Single submitter ⚠
- p.Tyr241Ser Single submitter ⚠
- p.Val115Ala Single submitter Inborn genetic diseases ⚠
- p.Val251Ile Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Val251Leu Single submitter ⚠
- p.Val284Ile Single submitter Inborn genetic diseases ⚠
- p.Val299Phe Single submitter Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Val417fs Single submitter
- p.Val55fs Single submitter
- p.Val91Ile Single submitter ⚠
- p.Val94Leu Single submitter ⚠
- p.Gly311Leu No assertion criteria KAT8-related disorder
- p.Ile189Thr No assertion criteria KAT8-related disorder ⚠
- p.Pro322Ala No assertion criteria Li-Ghorbani-Weisz-Hubshman syndrome ⚠
- p.Tyr212Ter No assertion criteria KAT8-related disorder