ATAD3B — 215 ClinVar variants

All ClinVar germline ATAD3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 192 flagged for review →

2 Conflicting · 6 Benign · 1 Benign/Likely benign · 16 Likely benign · 190 Uncertain significance

Full ATAD3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 192

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 59

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

Predictors split 133

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

All ATAD3B variants

Conflicting classifications of pathogenicity 2

p.Cys557Trp Single submitter ⚠
p.Thr228Met Single submitter ⚠

Benign 6

c.445-11C>G Multiple submitters
p.Ala71Ser Multiple submitters
p.Cys641= Multiple submitters
p.Pro639Ser Multiple submitters
c.906+6G>A Single submitter
p.Arg638Gln Single submitter

Benign/Likely benign 1

p.Phe274Tyr Multiple submitters

Likely benign 16

p.Val259= Multiple submitters
p.Arg570Cys Single submitter ⚠
p.Asn491Lys Single submitter
p.Asp546= Single submitter
p.Cys606Arg Single submitter
p.Gln220Arg Single submitter
p.Gln589His Single submitter
p.Glu424Lys Single submitter
p.His347Asn Single submitter
p.Leu350Met Single submitter ⚠
p.Lys545Glu Single submitter
p.Lys92Arg Single submitter
p.Phe459= Single submitter
p.Pro20Leu Single submitter ⚠
p.Thr191Ala Single submitter
p.Val222Ile Single submitter

Uncertain significance 190

c.1090-3C>T Single submitter
c.325C>T Single submitter ⚠
c.623G>A Single submitter ⚠
c.907-2A>G Single submitter
p.Ala16Val Single submitter ⚠
p.Ala197Pro Single submitter ⚠
p.Ala199Pro Single submitter ⚠
p.Ala215Val Single submitter ⚠
p.Ala249Gly Single submitter ⚠
p.Ala29Ser Single submitter ⚠
p.Ala29Val Single submitter ⚠
p.Ala366Thr Single submitter ⚠
p.Ala413Val Single submitter ⚠
p.Ala421Val Single submitter ⚠
p.Ala452Pro Single submitter ⚠
p.Ala519Thr Single submitter ⚠
p.Ala531Thr Single submitter ⚠
p.Ala531Val Single submitter ⚠
p.Ala541Val Single submitter ⚠
p.Ala552Thr Single submitter ⚠
p.Ala59Pro Single submitter ⚠
p.Ala608Thr Single submitter ⚠
p.Ala78Val Single submitter ⚠
p.Ala99Asp Single submitter ⚠
p.Ala99Thr Single submitter ⚠
p.Ala99Val Single submitter ⚠
p.Arg115Ser Single submitter ⚠
p.Arg124Gln Single submitter ⚠
p.Arg138Trp Single submitter ⚠
p.Arg140Cys Single submitter ⚠
p.Arg140His Single submitter ⚠
p.Arg157Trp Single submitter ⚠
p.Arg170Gln Single submitter ⚠
p.Arg171Gln Single submitter ⚠
p.Arg194Gln Single submitter ⚠
p.Arg194Trp Single submitter ⚠
p.Arg196His Single submitter ⚠
p.Arg201Trp Single submitter ⚠
p.Arg208Cys Single submitter ⚠
p.Arg212Cys Single submitter ⚠
p.Arg219Cys Single submitter ⚠
p.Arg219His Single submitter ⚠
p.Arg273His Single submitter ⚠
p.Arg278Gln Single submitter ⚠
p.Arg278Trp Single submitter ⚠
p.Arg290Leu Single submitter ⚠
p.Arg298Trp Single submitter ⚠
p.Arg305Gly Single submitter ⚠
p.Arg305Leu Single submitter ⚠
p.Arg305Trp Single submitter ⚠
p.Arg306Gln Single submitter ⚠
p.Arg329Cys Single submitter ⚠
p.Arg329Gly Single submitter ⚠
p.Arg342Gln Single submitter ⚠
p.Arg342Trp Single submitter ⚠
p.Arg346Gly Single submitter ⚠
p.Arg35His Single submitter ⚠
p.Arg386Trp Single submitter ⚠
p.Arg403Trp Single submitter ⚠
p.Arg404His Single submitter ⚠
p.Arg420Pro Single submitter ⚠
p.Arg466Cys Single submitter ⚠
p.Arg466His Single submitter ⚠
p.Arg483Cys Single submitter ⚠
p.Arg502Trp Single submitter ⚠
p.Arg503Cys Single submitter ⚠
p.Arg513Thr Single submitter ⚠
p.Arg520Trp Single submitter ⚠
p.Arg528Gln Single submitter ⚠
p.Arg566Pro Single submitter ⚠
p.Arg579His Single submitter ⚠
p.Arg638Trp Single submitter ⚠
p.Arg63Leu Single submitter ⚠
p.Asn152Ser Single submitter ⚠
p.Asn337Asp Single submitter ⚠
p.Asp245Asn Single submitter ⚠
p.Asp372Asn Single submitter ⚠
p.Asp39Glu Single submitter ⚠
p.Asp460Asn Single submitter ⚠
p.Asp474Asn Single submitter ⚠
p.Asp474His Single submitter ⚠
p.Asp51Tyr Single submitter ⚠
p.Cys515Tyr Single submitter ⚠
p.Cys557Gly Single submitter ⚠
p.Gln144Ter Single submitter
p.Gln159Arg Single submitter ⚠
p.Gln532His Single submitter ⚠
p.Gln83His Single submitter ⚠
p.Glu121Lys Single submitter ⚠
p.Glu122Lys Single submitter ⚠
p.Glu161Gly Single submitter ⚠
p.Glu190Asp Single submitter ⚠
p.Glu457Lys Single submitter ⚠
p.Glu582Gln Single submitter ⚠
p.Glu582Lys Single submitter ⚠
p.Glu66Asp Single submitter ⚠
p.Glu66Gly Single submitter ⚠
p.Glu82Gly Single submitter ⚠
p.Glu88Lys Single submitter ⚠
p.Glu95Ala Single submitter ⚠
p.Gly13Ser Single submitter ⚠
p.Gly15Ser Single submitter ⚠
p.Gly272Val Single submitter ⚠
p.Gly28Arg Single submitter ⚠
p.Gly343Ala Single submitter ⚠
p.Gly357Arg Single submitter ⚠
p.Gly379Arg Single submitter ⚠
p.Gly405Ser Single submitter ⚠
p.Gly54Cys Single submitter ⚠
p.Gly576Glu Single submitter ⚠
p.Gly578Arg Single submitter ⚠
p.Gly622Trp Single submitter ⚠
p.Gly636Ala Single submitter ⚠
p.His182Gln Single submitter ⚠
p.His218Tyr Single submitter ⚠
p.His347Tyr Single submitter ⚠
p.His368Asp Single submitter ⚠
p.His368Gln Single submitter ⚠
p.His472Arg Single submitter ⚠
p.His67Arg Single submitter ⚠
p.Ile206Val Single submitter ⚠
p.Ile275Val Single submitter ⚠
p.Ile333Thr Single submitter ⚠
p.Ile425Arg Single submitter ⚠
p.Ile425Leu Single submitter ⚠
p.Ile467Thr Single submitter ⚠
p.Leu213Val Single submitter ⚠
p.Leu254Met Single submitter ⚠
p.Leu254Pro Single submitter ⚠
p.Leu294Pro Single submitter ⚠
p.Leu320Phe Single submitter ⚠
p.Leu407Met Single submitter ⚠
p.Leu451Pro Single submitter ⚠
p.Leu593Val Single submitter ⚠
p.Lys117Arg Single submitter ⚠
p.Lys165Glu Single submitter ⚠
p.Lys198Arg Single submitter ⚠
p.Lys364Thr Single submitter ⚠
p.Lys427Arg Single submitter ⚠
p.Lys60Met Single submitter ⚠
p.Met186Leu Single submitter ⚠
p.Met384Ile Single submitter ⚠
p.Met410Ile Single submitter ⚠
p.Met525Val Single submitter ⚠
p.Met553Val Single submitter ⚠
p.Met632Ile Single submitter ⚠
p.Phe509Ser Single submitter ⚠
p.Pro18Gln Single submitter ⚠
p.Pro21Leu Single submitter ⚠
p.Pro23Gln Single submitter ⚠
p.Pro300Ser Single submitter ⚠
p.Pro496Ala Single submitter ⚠
p.Pro496Leu Single submitter ⚠
p.Pro52Ser Single submitter ⚠
p.Pro643Leu Single submitter ⚠
p.Pro646Ser Single submitter ⚠
p.Ser162Phe Single submitter ⚠
p.Ser162Thr Single submitter ⚠
p.Ser304Arg Single submitter ⚠
p.Ser309Ile Single submitter ⚠
p.Ser402Thr Single submitter ⚠
p.Ser426Asn Single submitter ⚠
p.Ser444Arg Single submitter ⚠
p.Ser536Pro Single submitter ⚠
p.Ser597Arg Single submitter ⚠
p.Ser629Tyr Single submitter ⚠
p.Thr118Ile Single submitter ⚠
p.Thr123Asn Single submitter ⚠
p.Thr221Pro Single submitter ⚠
p.Thr248Ser Single submitter ⚠
p.Thr255Met Single submitter ⚠
p.Thr338Ile Single submitter ⚠
p.Thr338Ser Single submitter ⚠
p.Thr359Met Single submitter ⚠
p.Thr422Ile Single submitter ⚠
p.Thr600Met Single submitter ⚠
p.Thr84Met Single submitter ⚠
p.Tyr373Cys Single submitter ⚠
p.Tyr511Phe Single submitter ⚠
p.Val100Met Single submitter ⚠
p.Val174Met Single submitter ⚠
p.Val222Phe Single submitter ⚠
p.Val259Phe Single submitter ⚠
p.Val303Ile Single submitter ⚠
p.Val314Met Single submitter ⚠
p.Val389Met Single submitter ⚠
p.Val469Met Single submitter ⚠
p.Val535Leu Single submitter ⚠
p.Val535Met Single submitter ⚠
p.Val548Ile Single submitter ⚠