ABTB2 — 171 ClinVar variants
All ClinVar germline ABTB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →
2 Likely benign · 169 Uncertain significance
Full ABTB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 169
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 106
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABTB2 p.Ala122Pro Uncertain significance Single submitter
- ABTB2 p.Ala129Val Uncertain significance Single submitter
- ABTB2 p.Ala181Val Uncertain significance Single submitter
- ABTB2 p.Ala293Thr Uncertain significance Single submitter
- ABTB2 p.Ala301Pro Uncertain significance Single submitter
- ABTB2 p.Ala301Thr Uncertain significance Single submitter
- ABTB2 p.Ala321Ser Uncertain significance Single submitter
- ABTB2 p.Ala370Val Uncertain significance Single submitter
- ABTB2 p.Ala607Val Uncertain significance Single submitter
- ABTB2 p.Ala631Thr Uncertain significance Single submitter
- ABTB2 p.Ala678Val Uncertain significance Single submitter
- ABTB2 p.Ala696Val Uncertain significance Single submitter
- ABTB2 p.Ala738Gly Uncertain significance Single submitter
- ABTB2 p.Ala738Ser Uncertain significance Single submitter
- ABTB2 p.Arg194Leu Uncertain significance Single submitter
- ABTB2 p.Arg212Leu Uncertain significance Single submitter
- ABTB2 p.Arg243Leu Uncertain significance Single submitter
- ABTB2 p.Arg28Pro Uncertain significance Single submitter
- ABTB2 p.Arg316Gln Uncertain significance Single submitter
- ABTB2 p.Arg326Gln Uncertain significance Single submitter
- ABTB2 p.Arg357Cys Uncertain significance Single submitter
- ABTB2 p.Arg368His Uncertain significance Single submitter
- ABTB2 p.Arg368Leu Uncertain significance Single submitter
- ABTB2 p.Arg371His Uncertain significance Single submitter
- ABTB2 p.Arg415Trp Uncertain significance Single submitter
- ABTB2 p.Arg437Cys Uncertain significance Single submitter
- ABTB2 p.Arg438His Uncertain significance Single submitter
- ABTB2 p.Arg452Gln Uncertain significance Single submitter
- ABTB2 p.Arg463Gln Uncertain significance Single submitter
- ABTB2 p.Arg476Ser Uncertain significance Single submitter
- ABTB2 p.Arg493Cys Uncertain significance Single submitter
- ABTB2 p.Arg708Gly Uncertain significance Single submitter
- ABTB2 p.Arg713His Uncertain significance Single submitter
- ABTB2 p.Arg769Gln Uncertain significance Single submitter
- ABTB2 p.Arg827Gln Uncertain significance Single submitter
- ABTB2 p.Arg989Gln Uncertain significance Single submitter
- ABTB2 p.Arg995His Uncertain significance Single submitter
- ABTB2 p.Asn840Ser Uncertain significance Single submitter
- ABTB2 p.Asp443Tyr Uncertain significance Single submitter
- ABTB2 p.Asp519Glu Uncertain significance Single submitter
- ABTB2 p.Cys174Trp Uncertain significance Single submitter
- ABTB2 p.Cys460Arg Uncertain significance Single submitter
- ABTB2 p.Cys943Arg Uncertain significance Single submitter
- ABTB2 p.Gln372Arg Uncertain significance Single submitter
- ABTB2 p.Gln521Arg Uncertain significance Single submitter
- ABTB2 p.Glu157Gly Uncertain significance Single submitter
- ABTB2 p.Glu315Lys Uncertain significance Single submitter
- ABTB2 p.Glu595Lys Uncertain significance Single submitter
- ABTB2 p.Glu750Lys Uncertain significance Single submitter
- ABTB2 p.Glu786Lys Uncertain significance Single submitter
- ABTB2 p.Glu80Asp Uncertain significance Single submitter
- ABTB2 p.Glu972Asp Uncertain significance Single submitter
- ABTB2 p.Gly130Trp Uncertain significance Single submitter
- ABTB2 p.Gly24Glu Uncertain significance Single submitter
- ABTB2 p.Gly309Arg Uncertain significance Single submitter
- ABTB2 p.Gly3Glu Uncertain significance Single submitter
- ABTB2 p.Gly445Ser Uncertain significance Single submitter
- ABTB2 p.Gly51Glu Uncertain significance Single submitter
- ABTB2 p.Gly596Asp Uncertain significance Single submitter
- ABTB2 p.Gly602Ser Uncertain significance Single submitter
- ABTB2 p.Gly642Ser Uncertain significance Single submitter
- ABTB2 p.His250Tyr Uncertain significance Single submitter
- ABTB2 p.Ile431Thr Uncertain significance Single submitter
- ABTB2 p.Ile992Leu Uncertain significance Single submitter
- ABTB2 p.Leu128Val Uncertain significance Single submitter
- ABTB2 p.Leu132Phe Uncertain significance Single submitter
- ABTB2 p.Leu176Gln Uncertain significance Single submitter
- ABTB2 p.Leu32Phe Uncertain significance Single submitter
- ABTB2 p.Leu465Pro Uncertain significance Single submitter
- ABTB2 p.Leu587Val Uncertain significance Single submitter
- ABTB2 p.Leu681Met Uncertain significance Single submitter
- ABTB2 p.Lys110Arg Uncertain significance Single submitter
- ABTB2 p.Lys980Glu Uncertain significance Single submitter
- ABTB2 p.Met235Val Uncertain significance Single submitter
- ABTB2 p.Met523Thr Uncertain significance Single submitter
- ABTB2 p.Met791Leu Uncertain significance Single submitter
- ABTB2 p.Met874Leu Uncertain significance Single submitter
- ABTB2 p.Met893Leu Uncertain significance Single submitter
- ABTB2 p.Met949Ile Uncertain significance Single submitter
- ABTB2 p.Phe849Leu Uncertain significance Single submitter
- ABTB2 p.Phe974Cys Uncertain significance Single submitter
- ABTB2 p.Pro359Leu Uncertain significance Single submitter
- ABTB2 p.Pro373Leu Uncertain significance Single submitter
- ABTB2 p.Pro381Ala Uncertain significance Single submitter
- ABTB2 p.Pro406Thr Uncertain significance Single submitter
- ABTB2 p.Pro525Thr Uncertain significance Single submitter
- ABTB2 p.Pro633Thr Uncertain significance Single submitter
- ABTB2 p.Ser160Arg Uncertain significance Single submitter
- ABTB2 p.Ser230Tyr Uncertain significance Single submitter
- ABTB2 p.Ser645Phe Uncertain significance Single submitter
- ABTB2 p.Ser817Thr Uncertain significance Single submitter
- ABTB2 p.Thr797Asn Uncertain significance Single submitter
- ABTB2 p.Tyr389Phe Uncertain significance Single submitter
- ABTB2 p.Tyr433Phe Uncertain significance Single submitter
- ABTB2 p.Tyr57His Uncertain significance Single submitter
- ABTB2 p.Tyr5Ser Uncertain significance Single submitter
- ABTB2 p.Tyr723Phe Uncertain significance Single submitter
- ABTB2 p.Val1016Met Uncertain significance Single submitter
- ABTB2 p.Val165Leu Uncertain significance Single submitter
- ABTB2 p.Val179Ile Uncertain significance Single submitter
- ABTB2 p.Val442Met Uncertain significance Single submitter
- ABTB2 p.Val665Ile Uncertain significance Single submitter
- ABTB2 p.Val680Met Uncertain significance Single submitter
- ABTB2 p.Val707Leu Uncertain significance Single submitter
- ABTB2 p.Val784Leu Uncertain significance Single submitter
- ABTB2 p.Val803Ile Uncertain significance Single submitter
Predictors split 63
The independent predictors disagree with each other — read with care.
- ABTB2 p.Ala248Thr Uncertain significance Single submitter
- ABTB2 p.Ala257Thr Uncertain significance Single submitter
- ABTB2 p.Ala529Ser Uncertain significance Single submitter
- ABTB2 p.Ala531Thr Uncertain significance Single submitter
- ABTB2 p.Arg116Trp Uncertain significance Single submitter
- ABTB2 p.Arg155Gly Uncertain significance Single submitter
- ABTB2 p.Arg209His Uncertain significance Single submitter
- ABTB2 p.Arg368Cys Uncertain significance Single submitter
- ABTB2 p.Arg392Trp Uncertain significance Single submitter
- ABTB2 p.Arg475Trp Uncertain significance Single submitter
- ABTB2 p.Arg567Trp Uncertain significance Single submitter
- ABTB2 p.Arg64Cys Uncertain significance Single submitter
- ABTB2 p.Arg708Trp Uncertain significance Single submitter
- ABTB2 p.Arg760Trp Uncertain significance Single submitter
- ABTB2 p.Arg827Trp Uncertain significance Single submitter
- ABTB2 p.Arg989Trp Uncertain significance Single submitter
- ABTB2 p.Arg995Cys Uncertain significance Single submitter
- ABTB2 p.Asp801Gly Uncertain significance Single submitter
- ABTB2 p.Asp986Asn Uncertain significance Single submitter
- ABTB2 p.Cys393Tyr Uncertain significance Single submitter
- ABTB2 p.Gln488Glu Uncertain significance Single submitter
- ABTB2 p.Gln990Pro Uncertain significance Single submitter
- ABTB2 p.Glu704Lys Uncertain significance Single submitter
- ABTB2 p.Glu889Asp Uncertain significance Single submitter
- ABTB2 p.Glu889Lys Uncertain significance Single submitter
- ABTB2 p.Gly192Arg Uncertain significance Single submitter
- ABTB2 p.Gly22Glu Uncertain significance Single submitter
- ABTB2 p.Gly255Glu Uncertain significance Single submitter
- ABTB2 p.Gly728Ser Uncertain significance Single submitter
- ABTB2 p.His656Asp Uncertain significance Single submitter
- ABTB2 p.Ile747Met Uncertain significance Single submitter
- ABTB2 p.Leu1008Val Uncertain significance Single submitter
- ABTB2 p.Leu924Met Uncertain significance Single submitter
- ABTB2 p.Lys796Gln Uncertain significance Single submitter
- ABTB2 p.Lys860Glu Uncertain significance Single submitter
- ABTB2 p.Met721Thr Uncertain significance Single submitter
- ABTB2 p.Met734Ile Uncertain significance Single submitter
- ABTB2 p.Met902Ile Uncertain significance Single submitter
- ABTB2 p.Met949Arg Uncertain significance Single submitter
- ABTB2 p.Pro1004Gln Uncertain significance Single submitter
- ABTB2 p.Pro402Ser Uncertain significance Single submitter
- ABTB2 p.Pro553Ser Uncertain significance Single submitter
- ABTB2 p.Pro564Ser Uncertain significance Single submitter
- ABTB2 p.Pro821Arg Uncertain significance Single submitter
- ABTB2 p.Pro831Leu Uncertain significance Single submitter
- ABTB2 p.Ser251Asn Uncertain significance Single submitter
- ABTB2 p.Ser341Leu Uncertain significance Single submitter
- ABTB2 p.Ser37Tyr Uncertain significance Single submitter
- ABTB2 p.Ser380Phe Uncertain significance Single submitter
- ABTB2 p.Ser439Gly Uncertain significance Single submitter
- ABTB2 p.Ser885Ile Uncertain significance Single submitter
- ABTB2 p.Ser928Gly Uncertain significance Single submitter
- ABTB2 p.Thr217Ile Uncertain significance Single submitter
- ABTB2 p.Thr73Met Uncertain significance Single submitter
- ABTB2 p.Trp68Ser Uncertain significance Single submitter
- ABTB2 p.Tyr389Asp Uncertain significance Single submitter
- ABTB2 p.Tyr389Cys Uncertain significance Single submitter
- ABTB2 p.Tyr722His Uncertain significance Single submitter
- ABTB2 p.Val707Met Uncertain significance Single submitter
- ABTB2 p.Val730Met Uncertain significance Single submitter
- ABTB2 p.Val741Ala Uncertain significance Single submitter
- ABTB2 p.Val864Met Uncertain significance Single submitter
- ABTB2 p.Val953Met Uncertain significance Single submitter
All ABTB2 variants
Likely benign 2
- p.Ile1021Val Single submitter
- p.Ile562Val Single submitter
Uncertain significance 169
- p.Ala122Pro Single submitter ⚠
- p.Ala129Val Single submitter ⚠
- p.Ala181Val Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala257Thr Single submitter ⚠
- p.Ala293Thr Single submitter ⚠
- p.Ala301Pro Single submitter ⚠
- p.Ala301Thr Single submitter ⚠
- p.Ala321Ser Single submitter ⚠
- p.Ala370Val Single submitter ⚠
- p.Ala529Ser Single submitter ⚠
- p.Ala531Thr Single submitter ⚠
- p.Ala607Val Single submitter ⚠
- p.Ala631Thr Single submitter ⚠
- p.Ala678Val Single submitter ⚠
- p.Ala696Val Single submitter ⚠
- p.Ala738Gly Single submitter ⚠
- p.Ala738Ser Single submitter ⚠
- p.Arg116Trp Single submitter ⚠
- p.Arg155Gly Single submitter ⚠
- p.Arg194Leu Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg212Leu Single submitter ⚠
- p.Arg243Leu Single submitter ⚠
- p.Arg28Pro Single submitter ⚠
- p.Arg316Gln Single submitter ⚠
- p.Arg326Gln Single submitter ⚠
- p.Arg357Cys Single submitter ⚠
- p.Arg368Cys Single submitter ⚠
- p.Arg368His Single submitter ⚠
- p.Arg368Leu Single submitter ⚠
- p.Arg371His Single submitter ⚠
- p.Arg392Trp Single submitter ⚠
- p.Arg415Trp Single submitter ⚠
- p.Arg437Cys Single submitter ⚠
- p.Arg438His Single submitter ⚠
- p.Arg452Gln Single submitter ⚠
- p.Arg463Gln Single submitter ⚠
- p.Arg475Trp Single submitter ⚠
- p.Arg476Ser Single submitter ⚠
- p.Arg493Cys Single submitter ⚠
- p.Arg567Trp Single submitter ⚠
- p.Arg64Cys Single submitter ⚠
- p.Arg708Gly Single submitter ⚠
- p.Arg708Trp Single submitter ⚠
- p.Arg713His Single submitter ⚠
- p.Arg760Trp Single submitter ⚠
- p.Arg769Gln Single submitter ⚠
- p.Arg827Gln Single submitter ⚠
- p.Arg827Trp Single submitter ⚠
- p.Arg989Gln Single submitter ⚠
- p.Arg989Trp Single submitter ⚠
- p.Arg995Cys Single submitter ⚠
- p.Arg995His Single submitter ⚠
- p.Asn840Ser Single submitter ⚠
- p.Asp443Tyr Single submitter ⚠
- p.Asp519Glu Single submitter ⚠
- p.Asp801Gly Single submitter ⚠
- p.Asp986Asn Single submitter ⚠
- p.Cys174Trp Single submitter ⚠
- p.Cys393Tyr Single submitter ⚠
- p.Cys460Arg Single submitter ⚠
- p.Cys943Arg Single submitter ⚠
- p.Gln372Arg Single submitter ⚠
- p.Gln488Glu Single submitter ⚠
- p.Gln521Arg Single submitter ⚠
- p.Gln990Pro Single submitter ⚠
- p.Glu157Gly Single submitter ⚠
- p.Glu315Lys Single submitter ⚠
- p.Glu595Lys Single submitter ⚠
- p.Glu704Lys Single submitter ⚠
- p.Glu750Lys Single submitter ⚠
- p.Glu786Lys Single submitter ⚠
- p.Glu80Asp Single submitter ⚠
- p.Glu889Asp Single submitter ⚠
- p.Glu889Lys Single submitter ⚠
- p.Glu972Asp Single submitter ⚠
- p.Gly130Trp Single submitter ⚠
- p.Gly192Arg Single submitter ⚠
- p.Gly22Glu Single submitter ⚠
- p.Gly24Glu Single submitter ⚠
- p.Gly255Glu Single submitter ⚠
- p.Gly309Arg Single submitter ⚠
- p.Gly3Glu Single submitter ⚠
- p.Gly445Ser Single submitter ⚠
- p.Gly51Glu Single submitter ⚠
- p.Gly596Asp Single submitter ⚠
- p.Gly602Ser Single submitter ⚠
- p.Gly642Ser Single submitter ⚠
- p.Gly728Ser Single submitter ⚠
- p.His250Tyr Single submitter ⚠
- p.His656Asp Single submitter ⚠
- p.Ile431Thr Single submitter ⚠
- p.Ile747Met Single submitter ⚠
- p.Ile992Leu Single submitter ⚠
- p.Leu1008Val Single submitter ⚠
- p.Leu128Val Single submitter ⚠
- p.Leu132Phe Single submitter ⚠
- p.Leu176Gln Single submitter ⚠
- p.Leu32Phe Single submitter ⚠
- p.Leu465Pro Single submitter ⚠
- p.Leu587Val Single submitter ⚠
- p.Leu681Met Single submitter ⚠
- p.Leu924Met Single submitter ⚠
- p.Lys110Arg Single submitter ⚠
- p.Lys796Gln Single submitter ⚠
- p.Lys860Glu Single submitter ⚠
- p.Lys980Glu Single submitter ⚠
- p.Met235Val Single submitter ⚠
- p.Met523Thr Single submitter ⚠
- p.Met721Thr Single submitter ⚠
- p.Met734Ile Single submitter ⚠
- p.Met791Leu Single submitter ⚠
- p.Met874Leu Single submitter ⚠
- p.Met893Leu Single submitter ⚠
- p.Met902Ile Single submitter ⚠
- p.Met949Arg Single submitter ⚠
- p.Met949Ile Single submitter ⚠
- p.Phe849Leu Single submitter ⚠
- p.Phe974Cys Single submitter ⚠
- p.Pro1004Gln Single submitter ⚠
- p.Pro359Leu Single submitter ⚠
- p.Pro373Leu Single submitter ⚠
- p.Pro381Ala Single submitter ⚠
- p.Pro402Ser Single submitter ⚠
- p.Pro406Thr Single submitter ⚠
- p.Pro525Thr Single submitter ⚠
- p.Pro553Ser Single submitter ⚠
- p.Pro564Ser Single submitter ⚠
- p.Pro633Thr Single submitter ⚠
- p.Pro821Arg Single submitter ⚠
- p.Pro831Leu Single submitter ⚠
- p.Ser160Arg Single submitter ⚠
- p.Ser230Tyr Single submitter ⚠
- p.Ser251Asn Single submitter ⚠
- p.Ser341Leu Single submitter ⚠
- p.Ser37Tyr Single submitter ⚠
- p.Ser380Phe Single submitter ⚠
- p.Ser439Gly Single submitter ⚠
- p.Ser645Phe Single submitter ⚠
- p.Ser817Thr Single submitter ⚠
- p.Ser885Ile Single submitter ⚠
- p.Ser928Gly Single submitter ⚠
- p.Thr217Ile Single submitter ⚠
- p.Thr73Met Single submitter ⚠
- p.Thr797Asn Single submitter ⚠
- p.Trp68Ser Single submitter ⚠
- p.Tyr389Asp Single submitter ⚠
- p.Tyr389Cys Single submitter ⚠
- p.Tyr389Phe Single submitter ⚠
- p.Tyr433Phe Single submitter ⚠
- p.Tyr57His Single submitter ⚠
- p.Tyr5Ser Single submitter ⚠
- p.Tyr722His Single submitter ⚠
- p.Tyr723Phe Single submitter ⚠
- p.Val1016Met Single submitter ⚠
- p.Val165Leu Single submitter ⚠
- p.Val179Ile Single submitter ⚠
- p.Val442Met Single submitter ⚠
- p.Val665Ile Single submitter ⚠
- p.Val680Met Single submitter ⚠
- p.Val707Leu Single submitter ⚠
- p.Val707Met Single submitter ⚠
- p.Val730Met Single submitter ⚠
- p.Val741Ala Single submitter ⚠
- p.Val784Leu Single submitter ⚠
- p.Val803Ile Single submitter ⚠
- p.Val864Met Single submitter ⚠
- p.Val953Met Single submitter ⚠