BAIAP2 — 97 ClinVar variants
All ClinVar germline BAIAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
6 Pathogenic · 8 Benign · 10 Likely benign · 73 Uncertain significance
Full BAIAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BAIAP2 c.*423G>A Uncertain significance Single submitter
- BAIAP2 c.*431G>A Uncertain significance Single submitter
- BAIAP2 c.*432G>A Uncertain significance Single submitter
- BAIAP2 c.*434G>C Uncertain significance Single submitter
- BAIAP2 c.*437G>C Uncertain significance Single submitter
- BAIAP2 c.*443G>A Uncertain significance Single submitter
- BAIAP2 c.*456C>A Uncertain significance Single submitter
- BAIAP2 c.*458G>A Uncertain significance Single submitter
- BAIAP2 p.Ala203Thr Uncertain significance Single submitter
- BAIAP2 p.Ala252Thr Uncertain significance Single submitter
- BAIAP2 p.Ala292Val Uncertain significance Single submitter
- BAIAP2 p.Ala477Ser Uncertain significance Single submitter
- BAIAP2 p.Ala48Val Uncertain significance Single submitter
- BAIAP2 p.Ala507Val Uncertain significance Single submitter
- BAIAP2 p.Arg378Trp Uncertain significance Single submitter
- BAIAP2 p.Arg410His Uncertain significance Single submitter
- BAIAP2 p.Arg476Gln Uncertain significance Single submitter
- BAIAP2 p.Asp441Asn Uncertain significance Single submitter
- BAIAP2 p.Asp527Asn Uncertain significance Single submitter
- BAIAP2 p.Gln448Arg Uncertain significance Single submitter
- BAIAP2 p.Glu110Asp Uncertain significance Single submitter
- BAIAP2 p.Glu71Asp Uncertain significance Single submitter
- BAIAP2 p.Gly251Ser Uncertain significance Single submitter
- BAIAP2 p.Gly301Asp Uncertain significance Single submitter
- BAIAP2 p.Gly472Ser Uncertain significance Single submitter
- BAIAP2 p.Gly485Ser Uncertain significance Single submitter
- BAIAP2 p.Leu443Val Uncertain significance Single submitter
- BAIAP2 p.Leu464Met Uncertain significance Single submitter
- BAIAP2 p.Lys130Arg Uncertain significance Single submitter
- BAIAP2 p.Lys359Arg Uncertain significance Single submitter
- BAIAP2 p.Met299Ile Uncertain significance Single submitter
- BAIAP2 p.Met445Val Uncertain significance Single submitter
- BAIAP2 p.Pro305Leu Uncertain significance Single submitter
- BAIAP2 p.Pro312Ser Uncertain significance Single submitter
- BAIAP2 p.Pro327Leu Uncertain significance Single submitter
- BAIAP2 p.Pro479Leu Uncertain significance Single submitter
- BAIAP2 p.Pro514Ser Uncertain significance Single submitter
- BAIAP2 p.Ser331Asn Uncertain significance Single submitter
- BAIAP2 p.Tyr211Cys Uncertain significance Single submitter
- BAIAP2 p.Val302Ile Uncertain significance Single submitter
- BAIAP2 p.Val347Met Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- BAIAP2 c.*440A>T Uncertain significance Single submitter
- BAIAP2 c.*441G>A Uncertain significance Single submitter
- BAIAP2 p.Ala240Val Uncertain significance Single submitter
- BAIAP2 p.Arg11Trp Uncertain significance Single submitter
- BAIAP2 p.Arg289Trp Uncertain significance Single submitter
- BAIAP2 p.Arg373Cys Uncertain significance Single submitter
- BAIAP2 p.Arg376Cys Uncertain significance Single submitter
- BAIAP2 p.Arg378Gln Uncertain significance Single submitter
- BAIAP2 p.Asn513Thr Uncertain significance Single submitter
- BAIAP2 p.Asp159Asn Uncertain significance Single submitter
- BAIAP2 p.Gln87Arg Uncertain significance Single submitter
- BAIAP2 p.Leu12Phe Uncertain significance Single submitter
- BAIAP2 p.Leu333Phe Uncertain significance Single submitter
- BAIAP2 p.Met79Val Uncertain significance Single submitter
- BAIAP2 p.Met9Thr Uncertain significance Single submitter
- BAIAP2 p.Pro224Leu Uncertain significance Single submitter
- BAIAP2 p.Pro297Thr Uncertain significance Single submitter
- BAIAP2 p.Ser325Cys Uncertain significance Single submitter
- BAIAP2 p.Ser329Phe Uncertain significance Single submitter
- BAIAP2 p.Thr403Ala Uncertain significance Single submitter
- BAIAP2 p.Thr46Ala Uncertain significance Single submitter
- BAIAP2 p.Tyr310Cys Uncertain significance Single submitter
- BAIAP2 p.Tyr353Cys Uncertain significance Single submitter
- BAIAP2 p.Tyr471Cys Uncertain significance Single submitter
- BAIAP2 p.Val16Asp Uncertain significance Single submitter
- BAIAP2 p.Val179Leu Uncertain significance Single submitter
- BAIAP2 p.Val179Met Uncertain significance Single submitter
- BAIAP2 p.Val518Ile Uncertain significance Single submitter
-
BAIAP2 p.Pro342Ala
Pathogenic
No assertion criteria
developmental and epileptic encephalopathy 120
-
BAIAP2 p.Thr340Ala
Pathogenic
No assertion criteria
developmental and epileptic encephalopathy 120
-
BAIAP2 p.Thr340Ile
Pathogenic
No assertion criteria
developmental and epileptic encephalopathy 120
-
BAIAP2 p.Thr340Lys
Pathogenic
No assertion criteria
developmental and epileptic encephalopathy 120
All BAIAP2 variants
Pathogenic 6
- p.Arg363His No assertion criteria developmental and epileptic encephalopathy 120
- p.Glu189Val No assertion criteria developmental and epileptic encephalopathy 120
- p.Pro342Ala No assertion criteria developmental and epileptic encephalopathy 120 ⚠
- p.Thr340Ala No assertion criteria developmental and epileptic encephalopathy 120 ⚠
- p.Thr340Ile No assertion criteria developmental and epileptic encephalopathy 120 ⚠
- p.Thr340Lys No assertion criteria developmental and epileptic encephalopathy 120 ⚠
Benign 8
Likely benign 10
- c.1269-7C>T Multiple submitters
- c.1337+10G>A Single submitter
- c.*446C>T Single submitter
- c.*450C>T Single submitter
- p.Ala119= Single submitter
- p.Ala480Thr Single submitter
- p.Asn300= Single submitter
- p.Asp462Glu Single submitter
- p.Gly173= Single submitter
- p.Leu401= Single submitter
Uncertain significance 73
- c.1535+1763T>G Single submitter attention deficit-hyperactivity disorder
- c.1535+553G>A Single submitter attention deficit-hyperactivity disorder
- c.490-1717A>G Single submitter attention deficit-hyperactivity disorder
- c.54+45T>C Single submitter attention deficit-hyperactivity disorder
- c.*423G>A Single submitter ⚠
- c.*431G>A Single submitter ⚠
- c.*432G>A Single submitter ⚠
- c.*434G>C Single submitter ⚠
- c.*437G>C Single submitter ⚠
- c.*440A>T Single submitter ⚠
- c.*441G>A Single submitter ⚠
- c.*443G>A Single submitter ⚠
- c.*456C>A Single submitter ⚠
- c.*458G>A Single submitter ⚠
- p.Ala203Thr Single submitter ⚠
- p.Ala240Val Single submitter ⚠
- p.Ala252Thr Single submitter ⚠
- p.Ala292Val Single submitter ⚠
- p.Ala477Ser Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg289Trp Single submitter ⚠
- p.Arg373Cys Single submitter ⚠
- p.Arg376Cys Single submitter ⚠
- p.Arg378Gln Single submitter ⚠
- p.Arg378Trp Single submitter ⚠
- p.Arg410His Single submitter ⚠
- p.Arg476Gln Single submitter ⚠
- p.Asn513Thr Single submitter ⚠
- p.Asp159Asn Single submitter ⚠
- p.Asp441Asn Single submitter ⚠
- p.Asp527Asn Single submitter ⚠
- p.Gln448Arg Single submitter ⚠
- p.Gln87Arg Single submitter ⚠
- p.Glu110Asp Single submitter ⚠
- p.Glu71Asp Single submitter ⚠
- p.Gly251Ser Single submitter ⚠
- p.Gly301Asp Single submitter ⚠
- p.Gly472Ser Single submitter ⚠
- p.Gly485Ser Single submitter ⚠
- p.Leu12Phe Single submitter ⚠
- p.Leu333Phe Single submitter ⚠
- p.Leu443Val Single submitter ⚠
- p.Leu464Met Single submitter ⚠
- p.Lys130Arg Single submitter ⚠
- p.Lys359Arg Single submitter ⚠
- p.Met299Ile Single submitter ⚠
- p.Met445Val Single submitter ⚠
- p.Met79Val Single submitter ⚠
- p.Met9Thr Single submitter ⚠
- p.Pro224Leu Single submitter ⚠
- p.Pro297Thr Single submitter ⚠
- p.Pro305Leu Single submitter ⚠
- p.Pro312Ser Single submitter ⚠
- p.Pro327Leu Single submitter ⚠
- p.Pro479Leu Single submitter ⚠
- p.Pro514Ser Single submitter ⚠
- p.Ser325Cys Single submitter ⚠
- p.Ser329Phe Single submitter ⚠
- p.Ser331Asn Single submitter ⚠
- p.Thr403Ala Single submitter ⚠
- p.Thr46Ala Single submitter ⚠
- p.Tyr211Cys Single submitter ⚠
- p.Tyr310Cys Single submitter ⚠
- p.Tyr353Cys Single submitter ⚠
- p.Tyr471Cys Single submitter ⚠
- p.Val16Asp Single submitter ⚠
- p.Val179Leu Single submitter ⚠
- p.Val179Met Single submitter ⚠
- p.Val302Ile Single submitter ⚠
- p.Val347Met Single submitter ⚠
- p.Val518Ile Single submitter ⚠