BAIAP3 — 288 ClinVar variants

All ClinVar germline BAIAP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 267 flagged for review →

6 Benign · 21 Likely benign · 261 Uncertain significance

Full BAIAP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 267

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 156

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 156

Predictors split 111

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

All BAIAP3 variants

Benign 6

c.-11+965T>C Single submitter
p.Asp542Asn Single submitter
p.Asp674= Single submitter
p.Gly364Ala Single submitter ⚠
p.Thr41Met Single submitter
p.Thr796Met Single submitter ⚠

Likely benign 21

c.-11+923G>A Single submitter
c.-3G>A Single submitter
p.Ala676Thr Single submitter
p.Ala999= Single submitter
p.Arg380Gln Single submitter
p.Arg697Lys Single submitter
p.Asn774Asp Single submitter
p.Cys434Arg Single submitter
p.Gly216Ser Single submitter
p.Gly298Glu Single submitter ⚠
p.His497Tyr Single submitter
p.Leu422= Single submitter
p.Leu470Phe Single submitter ⚠
p.Lys1142Arg Single submitter
p.Lys548Arg Single submitter
p.Phe244= Single submitter
p.Val1090Ile Single submitter ⚠
p.Val318Ile Single submitter
p.Val738Met Single submitter ⚠
p.Ala855Pro No assertion criteria long QT syndrome
p.Asn297= No assertion criteria BAIAP3-related disorder

Uncertain significance 261

c.-11+926G>T Single submitter ⚠
c.-11+983T>A Single submitter ⚠
c.-11+985G>A Single submitter ⚠
c.-11+991G>A Single submitter ⚠
c.-11+996C>G Single submitter ⚠
c.-6C>T Single submitter ⚠
p.Ala1007Gly Single submitter ⚠
p.Ala1056Val Single submitter ⚠
p.Ala1061Val Single submitter ⚠
p.Ala1080Val Single submitter ⚠
p.Ala1083Val Single submitter ⚠
p.Ala108Thr Single submitter ⚠
p.Ala1094Thr Single submitter ⚠
p.Ala1122Val Single submitter ⚠
p.Ala116Thr Single submitter ⚠
p.Ala116Val Single submitter ⚠
p.Ala129Val Single submitter ⚠
p.Ala270Val Single submitter ⚠
p.Ala296Thr Single submitter ⚠
p.Ala338Val Single submitter ⚠
p.Ala34Thr Single submitter ⚠
p.Ala359Ser Single submitter ⚠
p.Ala402Asp Single submitter ⚠
p.Ala40Ser Single submitter ⚠
p.Ala472Thr Single submitter ⚠
p.Ala490Asp Single submitter ⚠
p.Ala495Thr Single submitter ⚠
p.Ala568Thr Single submitter ⚠
p.Ala608Val Single submitter ⚠
p.Ala655Thr Single submitter ⚠
p.Ala659Val Single submitter ⚠
p.Ala759Val Single submitter ⚠
p.Ala82Ser Single submitter ⚠
p.Ala872Val Single submitter ⚠
p.Ala885Val Single submitter ⚠
p.Ala897Gly Single submitter ⚠
p.Ala897Thr Single submitter ⚠
p.Ala897Val Single submitter ⚠
p.Ala925Thr Single submitter ⚠
p.Ala987Val Single submitter ⚠
p.Arg1029Cys Single submitter ⚠
p.Arg1032Gly Single submitter ⚠
p.Arg1038Gln Single submitter ⚠
p.Arg1038Trp Single submitter ⚠
p.Arg1058His Single submitter ⚠
p.Arg1059Cys Single submitter ⚠
p.Arg1059His Single submitter ⚠
p.Arg1060Cys Single submitter ⚠
p.Arg1095Gln Single submitter ⚠
p.Arg1095Trp Single submitter ⚠
p.Arg1114Gln Single submitter ⚠
p.Arg1114Trp Single submitter ⚠
p.Arg1129Cys Single submitter ⚠
p.Arg151Gln Single submitter ⚠
p.Arg168His Single submitter ⚠
p.Arg197Gln Single submitter ⚠
p.Arg200Cys Single submitter ⚠
p.Arg206Cys Single submitter ⚠
p.Arg206Gly Single submitter ⚠
p.Arg210Cys Single submitter ⚠
p.Arg215Cys Single submitter ⚠
p.Arg215His Single submitter ⚠
p.Arg22His Single submitter ⚠
p.Arg23Cys Single submitter ⚠
p.Arg285Ser Single submitter ⚠
p.Arg295Cys Single submitter ⚠
p.Arg295Gly Single submitter ⚠
p.Arg319Gln Single submitter ⚠
p.Arg429Ser Single submitter ⚠
p.Arg538His Single submitter ⚠
p.Arg551Gln Single submitter ⚠
p.Arg57Cys Single submitter ⚠
p.Arg57Gly Single submitter ⚠
p.Arg598Gln Single submitter ⚠
p.Arg598Trp Single submitter ⚠
p.Arg602His Single submitter ⚠
p.Arg639His Single submitter ⚠
p.Arg639Pro Single submitter ⚠
p.Arg647Trp Single submitter ⚠
p.Arg679Met Single submitter ⚠
p.Arg697Thr Single submitter ⚠
p.Arg750Gln Single submitter ⚠
p.Arg750Trp Single submitter ⚠
p.Arg77Cys Single submitter ⚠
p.Arg77His Single submitter ⚠
p.Arg804Cys Single submitter ⚠
p.Arg902His Single submitter ⚠
p.Arg955His Single submitter ⚠
p.Arg955Ser Single submitter ⚠
p.Arg975Gln Single submitter ⚠
p.Arg982Cys Single submitter ⚠
p.Arg982His Single submitter ⚠
p.Asn1077Asp Single submitter ⚠
p.Asn1077Lys Single submitter ⚠
p.Asn974Ser Single submitter ⚠
p.Asp1001Tyr Single submitter ⚠
p.Asp1006His Single submitter ⚠
p.Asp1078Asn Single submitter ⚠
p.Asp126Asn Single submitter ⚠
p.Asp308Asn Single submitter ⚠
p.Asp327Asn Single submitter ⚠
p.Asp357Gly Single submitter ⚠
p.Asp567Asn Single submitter ⚠
p.Asp572Asn Single submitter ⚠
p.Asp648Asn Single submitter ⚠
p.Asp685Gly Single submitter ⚠
p.Asp835Asn Single submitter ⚠
p.Asp853Asn Single submitter ⚠
p.Cys1057Ser Single submitter ⚠
p.Cys185Gly Single submitter ⚠
p.Cys223Ser Single submitter ⚠
p.Cys519Tyr Single submitter ⚠
p.Cys71Ser Single submitter ⚠
p.Cys739Gly Single submitter ⚠
p.Cys809Ser Single submitter ⚠
p.Gln1097His Single submitter ⚠
p.Gln1135Pro Single submitter ⚠
p.Gln123His Single submitter ⚠
p.Gln449Arg Single submitter ⚠
p.Gln851His Single submitter ⚠
p.Glu1046Lys Single submitter ⚠
p.Glu1055Lys Single submitter ⚠
p.Glu106Lys Single submitter ⚠
p.Glu1145Lys Single submitter ⚠
p.Glu204Asp Single submitter ⚠
p.Glu228Lys Single submitter ⚠
p.Glu245Asp Single submitter ⚠
p.Glu26Asp Single submitter ⚠
p.Glu382Asp Single submitter ⚠
p.Glu522Lys Single submitter ⚠
p.Glu539Asp Single submitter ⚠
p.Glu629Gln Single submitter ⚠
p.Glu690Asp Single submitter ⚠
p.Glu73Lys Single submitter ⚠
p.Glu766Lys Single submitter ⚠
p.Glu776Asp Single submitter ⚠
p.Glu820Asp Single submitter ⚠
p.Glu820Gln Single submitter ⚠
p.Glu926Asp Single submitter ⚠
p.Glu933Gly Single submitter ⚠
p.Glu972Gln Single submitter ⚠
p.Gly1081Arg Single submitter ⚠
p.Gly1081Glu Single submitter ⚠
p.Gly1092Asp Single submitter ⚠
p.Gly188Val Single submitter ⚠
p.Gly212Asp Single submitter ⚠
p.Gly282Val Single submitter ⚠
p.Gly364Arg Single submitter ⚠
p.Gly47Arg Single submitter ⚠
p.Gly536Ser Single submitter ⚠
p.Gly555Glu Single submitter ⚠
p.Gly63Glu Single submitter ⚠
p.Gly682Glu Single submitter ⚠
p.Gly68Ser Single submitter ⚠
p.Gly758Arg Single submitter ⚠
p.Gly788Ala Single submitter ⚠
p.Gly800Trp Single submitter ⚠
p.Gly800Val Single submitter ⚠
p.Gly929Ser Single submitter ⚠
p.Gly92Ser Single submitter ⚠
p.Gly938Ala Single submitter ⚠
p.His55Tyr Single submitter ⚠
p.His698Arg Single submitter ⚠
p.His950Tyr Single submitter ⚠
p.Ile958Val Single submitter ⚠
p.Leu104Phe Single submitter ⚠
p.Leu104Val Single submitter ⚠
p.Leu1065Phe Single submitter ⚠
p.Leu109Val Single submitter ⚠
p.Leu187Met Single submitter ⚠
p.Leu243Val Single submitter ⚠
p.Leu314Phe Single submitter ⚠
p.Leu414Val Single submitter ⚠
p.Leu470Pro Single submitter ⚠
p.Leu484Phe Single submitter ⚠
p.Leu499Pro Single submitter ⚠
p.Leu501Met Single submitter ⚠
p.Leu5Pro Single submitter ⚠
p.Leu69Ser Single submitter ⚠
p.Leu749Phe Single submitter ⚠
p.Leu806Val Single submitter ⚠
p.Leu859Phe Single submitter ⚠
p.Leu863Pro Single submitter ⚠
p.Leu889Gln Single submitter ⚠
p.Leu891Pro Single submitter ⚠
p.Leu971Arg Single submitter ⚠
p.Leu971Val Single submitter ⚠
p.Lys1142Gln Single submitter ⚠
p.Lys203Asn Single submitter ⚠
p.Lys504Gln Single submitter ⚠
p.Lys618Arg Single submitter ⚠
p.Lys831Glu Single submitter ⚠
p.Lys967Thr Single submitter ⚠
p.Met103Ile Single submitter ⚠
p.Met1069Val Single submitter ⚠
p.Met283Arg Single submitter ⚠
p.Met283Ile Single submitter ⚠
p.Met360Ile Single submitter ⚠
p.Met527Thr Single submitter ⚠
p.Met59Val Single submitter ⚠
p.Phe1137Leu Single submitter ⚠
p.Phe244Leu Single submitter ⚠
p.Phe476Leu Single submitter ⚠
p.Phe628Tyr Single submitter ⚠
p.Phe640Leu Single submitter ⚠
p.Phe976Leu Single submitter ⚠
p.Pro1022Leu Single submitter ⚠
p.Pro1096Thr Single submitter ⚠
p.Pro121Ala Single submitter ⚠
p.Pro46Ala Single submitter ⚠
p.Pro550Ser Single submitter ⚠
p.Pro663Leu Single submitter ⚠
p.Pro805Arg Single submitter ⚠
p.Pro805Leu Single submitter ⚠
p.Pro847His Single submitter ⚠
p.Pro89Thr Single submitter ⚠
p.Ser1030Gly Single submitter ⚠
p.Ser231Asn Single submitter ⚠
p.Ser2Leu Single submitter ⚠
p.Ser337Thr Single submitter ⚠
p.Ser361Asn Single submitter ⚠
p.Ser391Arg Single submitter ⚠
p.Ser398Asn Single submitter ⚠
p.Ser412Asn Single submitter ⚠
p.Ser465Asn Single submitter ⚠
p.Ser578Asn Single submitter ⚠
p.Ser695Phe Single submitter ⚠
p.Ser695Pro Single submitter ⚠
p.Ser701Cys Single submitter ⚠
p.Ser765Gly Single submitter ⚠
p.Ser80Leu Single submitter ⚠
p.Ser873Leu Single submitter ⚠
p.Ser9Asn Single submitter ⚠
p.Ser9Thr Single submitter ⚠
p.Thr140Ile Single submitter ⚠
p.Thr435Met Single submitter ⚠
p.Thr491Ile Single submitter ⚠
p.Thr688Met Single submitter ⚠
p.Trp678Arg Single submitter ⚠
p.Trp791Cys Single submitter ⚠
p.Tyr438Asp Single submitter ⚠
p.Tyr570Cys Single submitter ⚠
p.Val1017Met Single submitter ⚠
p.Val1090Ala Single submitter ⚠
p.Val1138Met Single submitter ⚠
p.Val11Met Single submitter ⚠
p.Val137Met Single submitter ⚠
p.Val166Asp Single submitter ⚠
p.Val237Ile Single submitter ⚠
p.Val50Met Single submitter ⚠
p.Val590Ala Single submitter ⚠
p.Val592Ile Single submitter ⚠
p.Val623Met Single submitter ⚠
p.Val684Met Single submitter ⚠
p.Val692Gly Single submitter ⚠
p.Val692Leu Single submitter ⚠
p.Val738Ala Single submitter ⚠
p.Val74Leu Single submitter ⚠
p.Val778Met Single submitter ⚠
p.Val904Ile Single submitter ⚠
p.Val994Met Single submitter ⚠