HDAC2 — 37 ClinVar variants
All ClinVar germline HDAC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
3 Benign · 5 Likely benign · 29 Uncertain significance
Full HDAC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HDAC2 p.Arg78Gln Uncertain significance Single submitter
- HDAC2 p.Asp182Gly Uncertain significance Single submitter
- HDAC2 p.Asp234Tyr Uncertain significance Single submitter
- HDAC2 p.Asp423Asn Uncertain significance Single submitter
- HDAC2 p.Asp465Glu Uncertain significance Single submitter
- HDAC2 p.Cys262Tyr Uncertain significance Single submitter
- HDAC2 p.Gln240His Uncertain significance Single submitter
- HDAC2 p.Glu387Gly Uncertain significance Single submitter
- HDAC2 p.Glu449Asp Uncertain significance Single submitter
- HDAC2 p.Gly269Val Uncertain significance Single submitter
- HDAC2 p.Gly472Ser Uncertain significance Single submitter
- HDAC2 p.His391Arg Uncertain significance Single submitter
- HDAC2 p.His58Tyr Uncertain significance Single submitter
- HDAC2 p.Lys10Arg Uncertain significance Single submitter
- HDAC2 p.Lys458Arg Uncertain significance Single submitter
-
HDAC2 p.Met31Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- HDAC2 p.Phe108Ser Uncertain significance Single submitter
- HDAC2 p.Pro378Ser Uncertain significance Single submitter
- HDAC2 p.Ser471Thr Uncertain significance Single submitter
- HDAC2 p.Thr196Met Uncertain significance Single submitter
- HDAC2 p.Tyr315Cys Uncertain significance Single submitter
- HDAC2 p.Val134Ile Uncertain significance Single submitter
- HDAC2 p.Val461Ile Uncertain significance Single submitter
-
HDAC2 p.Glu186Ala
Uncertain significance
No assertion criteria
HDAC2-related disorder
- HDAC2 p.Val97Ala Uncertain significance No assertion criteria
Predictors split 1
The independent predictors disagree with each other — read with care.
All HDAC2 variants
Benign 3
- c.284-9C>A Single submitter
- c.53-7A>G Single submitter
- p.Val289= Single submitter
Likely benign 5
- p.Leu277= Single submitter
- c.1222+7T>C No assertion criteria HDAC2-related disorder
- c.359-9A>G No assertion criteria HDAC2-related disorder
- c.497+8A>C No assertion criteria HDAC2-related disorder
- p.Phe206= No assertion criteria HDAC2-related disorder
Uncertain significance 29
- p.Ala320Gly Single submitter ⚠
- p.Ala445fs Single submitter HDAC-related disorder
- p.Arg78Gln Single submitter ⚠
- p.Asp182Gly Single submitter ⚠
- p.Asp234Tyr Single submitter ⚠
- p.Asp423Asn Single submitter ⚠
- p.Asp465Glu Single submitter ⚠
- p.Cys262Tyr Single submitter ⚠
- p.Gln240His Single submitter ⚠
- p.Glu387Gly Single submitter ⚠
- p.Glu449Asp Single submitter ⚠
- p.Glu455fs Single submitter neurodevelopmental disorder
- p.Gly269Val Single submitter ⚠
- p.Gly472Ser Single submitter ⚠
- p.His391Arg Single submitter ⚠
- p.His58Tyr Single submitter ⚠
- p.Lys10Arg Single submitter ⚠
- p.Lys458Arg Single submitter ⚠
- p.Met31Ile Single submitter Inborn genetic diseases ⚠
- p.Phe108Ser Single submitter ⚠
- p.Pro378Ser Single submitter ⚠
- p.Ser471Thr Single submitter ⚠
- p.Thr196Met Single submitter ⚠
- p.Tyr315Cys Single submitter ⚠
- p.Val134Ile Single submitter ⚠
- p.Val461Ile Single submitter ⚠
- p.Glu186Ala No assertion criteria HDAC2-related disorder ⚠
- p.Lys440fs No assertion criteria HDAC2-related disorder
- p.Val97Ala No assertion criteria ⚠