ATAD2 — 149 ClinVar variants

All ClinVar germline ATAD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

1 Benign · 8 Likely benign · 140 Uncertain significance

Full ATAD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 82

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

Predictors split 60

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

All ATAD2 variants

Benign 1

c.2855-8A>G Single submitter

Likely benign 8

p.Arg1365Gln Single submitter
p.Arg913His Single submitter
p.Asp264Glu Single submitter
p.Asp266Glu Single submitter ⚠
p.Asp270Asn Single submitter ⚠
p.Asp277_Glu278insAspAspAsp Single submitter
p.Asp279Glu Single submitter
p.Ile1194Thr Single submitter

Uncertain significance 140

p.Ala1155Val Single submitter ⚠
p.Ala329Thr Single submitter ⚠
p.Ala338Ser Single submitter ⚠
p.Ala499Gly Single submitter ⚠
p.Ala644Gly Single submitter ⚠
p.Ala771Pro Single submitter ⚠
p.Ala81Val Single submitter ⚠
p.Ala902Thr Single submitter ⚠
p.Ala972Thr Single submitter ⚠
p.Arg1167His Single submitter ⚠
p.Arg1180Gln Single submitter ⚠
p.Arg1301His Single submitter ⚠
p.Arg131Gln Single submitter ⚠
p.Arg1367Cys Single submitter ⚠
p.Arg136Thr Single submitter ⚠
p.Arg163His Single submitter ⚠
p.Arg198Gln Single submitter ⚠
p.Arg200Ile Single submitter ⚠
p.Arg313His Single submitter ⚠
p.Arg347Gln Single submitter ⚠
p.Arg380His Single submitter ⚠
p.Arg380Leu Single submitter ⚠
p.Arg38Trp Single submitter ⚠
p.Arg393Pro Single submitter ⚠
p.Arg514Gln Single submitter ⚠
p.Arg652Gln Single submitter ⚠
p.Arg654Cys Single submitter ⚠
p.Arg929Gln Single submitter ⚠
p.Asn101Asp Single submitter ⚠
p.Asn1213Tyr Single submitter ⚠
p.Asn1244His Single submitter ⚠
p.Asn1244Lys Single submitter ⚠
p.Asn12Asp Single submitter ⚠
p.Asn385Ser Single submitter ⚠
p.Asn774Ser Single submitter ⚠
p.Asn776Tyr Single submitter ⚠
p.Asn92Asp Single submitter ⚠
p.Asp1136Gly Single submitter ⚠
p.Asp1188Gly Single submitter ⚠
p.Asp1195Val Single submitter ⚠
p.Asp1207Glu Single submitter ⚠
p.Asp1254Asn Single submitter ⚠
p.Asp151Ala Single submitter ⚠
p.Asp231Gly Single submitter ⚠
p.Asp256Asn Single submitter ⚠
p.Asp259Val Single submitter ⚠
p.Asp264Gly Single submitter ⚠
p.Asp267Glu Single submitter ⚠
p.Asp273Glu Single submitter ⚠
p.Asp274Val Single submitter ⚠
p.Asp275Asn Single submitter ⚠
p.Asp277Tyr Single submitter ⚠
p.Asp426Gly Single submitter ⚠
p.Asp426Val Single submitter ⚠
p.Asp58Asn Single submitter ⚠
p.Asp738Ala Single submitter ⚠
p.Asp738Gly Single submitter ⚠
p.Asp738Val Single submitter ⚠
p.Cys643Phe Single submitter ⚠
p.Gln1099Lys Single submitter ⚠
p.Gln1161His Single submitter ⚠
p.Gln1230Glu Single submitter ⚠
p.Gln1303Arg Single submitter ⚠
p.Gln1303His Single submitter ⚠
p.Gln1345His Single submitter ⚠
p.Gln1361His Single submitter ⚠
p.Gln1377Lys Single submitter ⚠
p.Gln169Arg Single submitter ⚠
p.Gln228Arg Single submitter ⚠
p.Gln370Glu Single submitter ⚠
p.Gln486Arg Single submitter ⚠
p.Glu1253Gly Single submitter ⚠
p.Glu260Lys Single submitter ⚠
p.Glu278Asp Single submitter ⚠
p.Glu283Gly Single submitter ⚠
p.Glu32Gly Single submitter ⚠
p.Glu934Gly Single submitter ⚠
p.Gly1216Arg Single submitter ⚠
p.Gly1219Val Single submitter ⚠
p.Gly206Glu Single submitter ⚠
p.Gly240Asp Single submitter ⚠
p.Gly324Asp Single submitter ⚠
p.Gly487Ala Single submitter ⚠
p.Gly762Val Single submitter ⚠
p.Gly870Glu Single submitter ⚠
p.His1330Pro Single submitter ⚠
p.His1366Leu Single submitter ⚠
p.His146Asp Single submitter ⚠
p.His548Tyr Single submitter ⚠
p.His779Arg Single submitter ⚠
p.His998Arg Single submitter ⚠
p.Ile1104Met Single submitter ⚠
p.Ile1198Thr Single submitter ⚠
p.Ile1248Leu Single submitter ⚠
p.Ile1279Leu Single submitter ⚠
p.Ile1279Met Single submitter ⚠
p.Ile127Val Single submitter ⚠
p.Ile355Val Single submitter ⚠
p.Ile400Asn Single submitter ⚠
p.Ile551Val Single submitter ⚠
p.Ile580Leu Single submitter ⚠
p.Leu109Val Single submitter ⚠
p.Leu1336Ile Single submitter ⚠
p.Leu216Ile Single submitter ⚠
p.Leu24Val Single submitter ⚠
p.Leu595Ile Single submitter ⚠
p.Leu608Val Single submitter ⚠
p.Leu893Pro Single submitter ⚠
p.Leu953Phe Single submitter ⚠
p.Leu956Phe Single submitter ⚠
p.Lys1117Arg Single submitter ⚠
p.Lys1137Glu Single submitter ⚠
p.Met1379Val Single submitter ⚠
p.Met171Thr Single submitter ⚠
p.Met686Lys Single submitter ⚠
p.Phe1386Leu Single submitter ⚠
p.Phe775Leu Single submitter ⚠
p.Phe933Tyr Single submitter ⚠
p.Pro1150Leu Single submitter ⚠
p.Pro1159Ser Single submitter ⚠
p.Pro1324Arg Single submitter ⚠
p.Pro49Ala Single submitter ⚠
p.Pro756Thr Single submitter ⚠
p.Pro945Arg Single submitter ⚠
p.Ser336Pro Single submitter ⚠
p.Ser740Tyr Single submitter ⚠
p.Ser764Pro Single submitter ⚠
p.Ser768Cys Single submitter ⚠
p.Ser87Thr Single submitter ⚠
p.Thr1084Ala Single submitter ⚠
p.Thr661Ile Single submitter ⚠
p.Thr835Ile Single submitter ⚠
p.Thr852Ala Single submitter ⚠
p.Tyr295Cys Single submitter ⚠
p.Tyr634His Single submitter ⚠
p.Val1134Leu Single submitter ⚠
p.Val1340Ala Single submitter ⚠
p.Val798Ala Single submitter ⚠
p.Val907Leu Single submitter ⚠
p.Val975Met Single submitter ⚠