HDAC3 — 34 ClinVar variants
All ClinVar germline HDAC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Likely pathogenic · 1 Conflicting · 2 Benign · 5 Likely benign · 25 Uncertain significance
Full HDAC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HDAC3 p.Arg406Lys Uncertain significance Single submitter
- HDAC3 p.Asp93Gly Uncertain significance Single submitter
- HDAC3 p.Glu64Gly Uncertain significance Single submitter
- HDAC3 p.Gly80Ala Uncertain significance Single submitter
-
HDAC3 p.Gly99Arg
Uncertain significance
Single submitter
HDAC3-related disorder
- HDAC3 p.Ile127Val Uncertain significance Single submitter
- HDAC3 p.Ile346Leu Uncertain significance Single submitter
- HDAC3 p.Ile362Val Uncertain significance Single submitter
- HDAC3 p.Ile428Val Uncertain significance Single submitter
- HDAC3 p.Ile67Val Uncertain significance Single submitter
- HDAC3 p.Leu70Pro Uncertain significance Single submitter
- HDAC3 p.Pro400Ser Uncertain significance Single submitter
- HDAC3 p.Thr184Ala Uncertain significance Single submitter
- HDAC3 p.Thr390Ser Uncertain significance Single submitter
- HDAC3 p.Val209Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- HDAC3 p.Arg301Gln Likely pathogenic Single submitter
- HDAC3 p.Arg345His Uncertain significance Single submitter
- HDAC3 p.Arg352Gly Uncertain significance Single submitter
- HDAC3 p.Asn287Ser Uncertain significance Single submitter
- HDAC3 p.His371Arg Uncertain significance Single submitter
- HDAC3 p.Lys3Asn Uncertain significance Single submitter
- HDAC3 p.Phe16Leu Uncertain significance Single submitter
All HDAC3 variants
Likely pathogenic 1
- p.Arg301Gln Single submitter ⚠
Conflicting classifications of pathogenicity 1
- p.Tyr298Cys Single submitter ⚠
Benign 2
- p.Asn411Ser Single submitter
- p.Glu322= Single submitter
Likely benign 5
- c.765+8T>C Single submitter
- c.-6G>T Single submitter
- p.Asn128= Single submitter
- p.Leu291= Single submitter
- p.Met1fs Single submitter
Uncertain significance 25
- p.Arg345His Single submitter ⚠
- p.Arg352Gly Single submitter ⚠
- p.Arg406Lys Single submitter ⚠
- p.Asn287Ser Single submitter ⚠
- p.Asp93Gly Single submitter ⚠
- p.Glu317Gly Single submitter
- p.Glu64Gly Single submitter ⚠
- p.Gly80Ala Single submitter ⚠
- p.Gly99Arg Single submitter HDAC3-related disorder ⚠
- p.His371Arg Single submitter ⚠
- p.Ile127Val Single submitter ⚠
- p.Ile346Leu Single submitter ⚠
- p.Ile362Val Single submitter ⚠
- p.Ile428Val Single submitter ⚠
- p.Ile67Val Single submitter ⚠
- p.Leu266_Gly267delinsPheCys Single submitter
- p.Leu70Pro Single submitter ⚠
- p.Lys3Asn Single submitter ⚠
- p.Met188Leu Single submitter
- p.Phe16Leu Single submitter ⚠
- p.Pro400Ser Single submitter ⚠
- p.Thr184Ala Single submitter ⚠
- p.Thr390Ser Single submitter ⚠
- p.Val209Ile Single submitter ⚠
- c.50_55+5del No assertion criteria ependymoma