HDAC7 — 161 ClinVar variants

All ClinVar germline HDAC7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

1 Conflicting · 2 Benign · 2 Benign/Likely benign · 9 Likely benign · 147 Uncertain significance

Full HDAC7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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.

HDAC7 p.Thr161Met Conflicting Single submitter

Predictors lean, ClinVar uncertain 82

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 57

The independent predictors disagree with each other — read with care.

All HDAC7 variants

Conflicting classifications of pathogenicity 1

p.Thr161Met Single submitter ⚠

Benign 2

p.Thr243= Multiple submitters
c.1934-5C>T Single submitter

Benign/Likely benign 2

p.Arg201= Multiple submitters
p.Leu233= Multiple submitters

Likely benign 9

p.Ala23Thr Single submitter
p.Ala513Gly Single submitter
p.Arg63His Single submitter
p.Asp773= Single submitter
p.Gly150Ser Single submitter
p.Met413Leu Single submitter
p.Pro409Leu Single submitter
p.Pro410Leu Single submitter
p.Thr714= Single submitter

Uncertain significance 147

p.Ala138Val Single submitter ⚠
p.Ala266Val Single submitter ⚠
p.Ala337Gly Single submitter ⚠
p.Ala337Thr Single submitter ⚠
p.Ala431Gly Single submitter ⚠
p.Ala529Thr Single submitter ⚠
p.Ala529Val Single submitter ⚠
p.Ala648Gly Single submitter ⚠
p.Arg106Gly Single submitter ⚠
p.Arg106Trp Single submitter ⚠
p.Arg116Gln Single submitter ⚠
p.Arg226Gln Single submitter ⚠
p.Arg226Pro Single submitter ⚠
p.Arg227Trp Single submitter ⚠
p.Arg228Trp Single submitter ⚠
p.Arg307Cys Single submitter ⚠
p.Arg316Trp Single submitter ⚠
p.Arg344His Single submitter ⚠
p.Arg416Pro Single submitter ⚠
p.Arg438Trp Single submitter ⚠
p.Arg43Gln Single submitter ⚠
p.Arg440Gln Single submitter ⚠
p.Arg494Gln Single submitter ⚠
p.Arg498Trp Single submitter ⚠
p.Arg543Gly Single submitter ⚠
p.Arg597Gln Single submitter ⚠
p.Arg600Trp Single submitter ⚠
p.Arg623Trp Single submitter ⚠
p.Arg635Cys Single submitter ⚠
p.Arg635His Single submitter ⚠
p.Arg650Gln Single submitter ⚠
p.Arg650Trp Single submitter ⚠
p.Arg66Cys Single submitter ⚠
p.Arg678His Single submitter ⚠
p.Arg729Gln Single submitter ⚠
p.Arg826Gln Single submitter ⚠
p.Arg939Cys Single submitter ⚠
p.Arg939His Single submitter ⚠
p.Asn252Ser Single submitter ⚠
p.Asn259Lys Single submitter ⚠
p.Asn259Ser Single submitter ⚠
p.Asn669Lys Single submitter ⚠
p.Asn675Ser Single submitter ⚠
p.Asn868Thr Single submitter ⚠
p.Asp253Glu Single submitter ⚠
p.Asp253Gly Single submitter ⚠
p.Asp564Glu Single submitter ⚠
p.Asp686Asn Single submitter ⚠
p.Asp773Asn Single submitter ⚠
p.Gln10His Single submitter
p.Gln472Pro Single submitter ⚠
p.Gln617His Single submitter ⚠
p.Gln733Lys Single submitter ⚠
p.Glu195Ala Single submitter ⚠
p.Glu336Lys Single submitter ⚠
p.Glu51Gln Single submitter ⚠
p.Glu614Gly Single submitter ⚠
p.Glu909Asp Single submitter ⚠
p.Glu960Val Single submitter ⚠
p.Gly314Arg Single submitter ⚠
p.Gly365Arg Single submitter ⚠
p.Gly505Arg Single submitter ⚠
p.Gly516Val Single submitter ⚠
p.Gly575Ser Single submitter ⚠
p.Gly5Arg Single submitter
p.Gly5Ser Single submitter
p.Gly629Ser Single submitter ⚠
p.Gly641Arg Single submitter ⚠
p.His256Gln Single submitter ⚠
p.His771Arg Single submitter ⚠
p.Ile740Val Single submitter ⚠
p.Ile887Asn Single submitter ⚠
p.Leu233Phe Single submitter ⚠
p.Leu267Ile Single submitter ⚠
p.Leu489Phe Single submitter ⚠
p.Leu512Val Single submitter ⚠
p.Leu643Val Single submitter ⚠
p.Leu741Pro Single submitter ⚠
p.Leu814Val Single submitter ⚠
p.Leu906Phe Single submitter ⚠
p.Leu973Val Single submitter ⚠
p.Leu991His Single submitter ⚠
p.Lys212Asn Single submitter ⚠
p.Met168Val Single submitter ⚠
p.Met85Leu Single submitter ⚠
p.Met862Ile Single submitter ⚠
p.Met89Thr Single submitter ⚠
p.Pro13Leu Single submitter
p.Pro183Leu Single submitter ⚠
p.Pro285Leu Single submitter ⚠
p.Pro311Arg Single submitter ⚠
p.Pro311Leu Single submitter ⚠
p.Pro315Ser Single submitter ⚠
p.Pro33Ala Single submitter
p.Pro347His Single submitter ⚠
p.Pro364Thr Single submitter ⚠
p.Pro37Leu Single submitter
p.Pro407Arg Single submitter ⚠
p.Pro433Arg Single submitter ⚠
p.Pro433Leu Single submitter ⚠
p.Pro437Ala Single submitter ⚠
p.Pro455Leu Single submitter ⚠
p.Pro478Ser Single submitter ⚠
p.Pro480Leu Single submitter ⚠
p.Pro54Leu Single submitter ⚠
p.Pro761Ala Single submitter ⚠
p.Pro778Leu Single submitter ⚠
p.Pro807Ala Single submitter ⚠
p.Pro807Arg Single submitter ⚠
p.Pro807His Single submitter ⚠
p.Pro807Ser Single submitter ⚠
p.Pro807Thr Single submitter ⚠
p.Pro84His Single submitter ⚠
p.Pro905Ser Single submitter ⚠
p.Pro988Ser Single submitter ⚠
p.Ser12Gly Single submitter
p.Ser386Leu Single submitter ⚠
p.Ser521Thr Single submitter ⚠
p.Ser540Asn Single submitter ⚠
p.Ser565Leu Single submitter ⚠
p.Ser565Trp Single submitter ⚠
p.Ser634Gly Single submitter ⚠
p.Ser713Leu Single submitter ⚠
p.Ser738Arg Single submitter ⚠
p.Ser738Thr Single submitter ⚠
p.Ser979Leu Single submitter ⚠
p.Thr155Ile Single submitter ⚠
p.Thr21Ile Single submitter
p.Thr232Ala Single submitter ⚠
p.Thr243Met Single submitter ⚠
p.Thr277Ala Single submitter ⚠
p.Thr309Asn Single submitter ⚠
p.Thr309Ile Single submitter ⚠
p.Thr325Ser Single submitter ⚠
p.Thr340Ile Single submitter ⚠
p.Thr379Ala Single submitter ⚠
p.Thr504Ala Single submitter ⚠
p.Thr504Pro Single submitter ⚠
p.Thr559Lys Single submitter ⚠
p.Thr714Ile Single submitter ⚠
p.Thr91Met Single submitter ⚠
p.Trp679Cys Single submitter ⚠
p.Val119Ile Single submitter ⚠
p.Val123Met Single submitter ⚠
p.Val131Met Single submitter ⚠
p.Val625Ala Single submitter ⚠
p.Val625Met Single submitter ⚠