BAZ1B — 188 ClinVar variants
All ClinVar germline BAZ1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →
5 Benign · 4 Benign/Likely benign · 34 Likely benign · 145 Uncertain significance
Full BAZ1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 141
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 92
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BAZ1B p.Glu720Asp Uncertain significance Multiple submitters
- BAZ1B p.Ala1082Ser Uncertain significance Single submitter
- BAZ1B p.Ala1148Ser Uncertain significance Single submitter
- BAZ1B p.Ala1182Thr Uncertain significance Single submitter
- BAZ1B p.Ala1319Thr Uncertain significance Single submitter
-
BAZ1B p.Ala194Gly
Uncertain significance
Single submitter
syndromic intellectual disability
- BAZ1B p.Ala391Thr Uncertain significance Single submitter
- BAZ1B p.Ala592Val Uncertain significance Single submitter
- BAZ1B p.Ala965Gly Uncertain significance Single submitter
- BAZ1B p.Ala974Val Uncertain significance Single submitter
- BAZ1B p.Arg1120Lys Uncertain significance Single submitter
- BAZ1B p.Arg1241Cys Uncertain significance Single submitter
- BAZ1B p.Arg1243Gly Uncertain significance Single submitter
- BAZ1B p.Arg452Gln Uncertain significance Single submitter
- BAZ1B p.Arg452Gly Uncertain significance Single submitter
- BAZ1B p.Arg936Gly Uncertain significance Single submitter
- BAZ1B p.Asn325Asp Uncertain significance Single submitter
- BAZ1B p.Asn333Lys Uncertain significance Single submitter
- BAZ1B p.Asn604Ser Uncertain significance Single submitter
- BAZ1B p.Asn713Asp Uncertain significance Single submitter
- BAZ1B p.Asn938Ser Uncertain significance Single submitter
- BAZ1B p.Asn964Lys Uncertain significance Single submitter
- BAZ1B p.Asn968Lys Uncertain significance Single submitter
- BAZ1B p.Asn968Ser Uncertain significance Single submitter
- BAZ1B p.Asp314Ala Uncertain significance Single submitter
- BAZ1B p.Asp324Glu Uncertain significance Single submitter
- BAZ1B p.Asp712Asn Uncertain significance Single submitter
- BAZ1B p.Asp726Glu Uncertain significance Single submitter
- BAZ1B p.Asp832Asn Uncertain significance Single submitter
- BAZ1B p.Asp943Glu Uncertain significance Single submitter
- BAZ1B p.Gln1346Arg Uncertain significance Single submitter
- BAZ1B p.Gln415Arg Uncertain significance Single submitter
- BAZ1B p.Gln448Arg Uncertain significance Single submitter
- BAZ1B p.Gln830Arg Uncertain significance Single submitter
- BAZ1B p.Glu1022Lys Uncertain significance Single submitter
- BAZ1B p.Glu141Lys Uncertain significance Single submitter
- BAZ1B p.Glu368Lys Uncertain significance Single submitter
- BAZ1B p.Glu564Lys Uncertain significance Single submitter
- BAZ1B p.Glu812Lys Uncertain significance Single submitter
- BAZ1B p.Gly1224Ser Uncertain significance Single submitter
- BAZ1B p.Gly1302Arg Uncertain significance Single submitter
- BAZ1B p.Gly1466Glu Uncertain significance Single submitter
- BAZ1B p.Gly1478Arg Uncertain significance Single submitter
- BAZ1B p.Gly18Glu Uncertain significance Single submitter
- BAZ1B p.Gly208Glu Uncertain significance Single submitter
- BAZ1B p.Gly587Asp Uncertain significance Single submitter
- BAZ1B p.Gly948Val Uncertain significance Single submitter
- BAZ1B p.His1310Gln Uncertain significance Single submitter
- BAZ1B p.His397Leu Uncertain significance Single submitter
- BAZ1B p.Ile1028Val Uncertain significance Single submitter
- BAZ1B p.Ile190Phe Uncertain significance Single submitter
- BAZ1B p.Ile632Val Uncertain significance Single submitter
- BAZ1B p.Ile824Asn Uncertain significance Single submitter
- BAZ1B p.Ile891Thr Uncertain significance Single submitter
- BAZ1B p.Leu241Phe Uncertain significance Single submitter
- BAZ1B p.Leu332Val Uncertain significance Single submitter
- BAZ1B p.Lys1121Arg Uncertain significance Single submitter
- BAZ1B p.Lys1198Arg Uncertain significance Single submitter
- BAZ1B p.Lys335Gln Uncertain significance Single submitter
- BAZ1B p.Lys53Arg Uncertain significance Single submitter
- BAZ1B p.Lys578Arg Uncertain significance Single submitter
- BAZ1B p.Lys77Arg Uncertain significance Single submitter
- BAZ1B p.Met801Val Uncertain significance Single submitter
- BAZ1B p.Pro1296Ser Uncertain significance Single submitter
- BAZ1B p.Pro1320Ser Uncertain significance Single submitter
- BAZ1B p.Pro26Leu Uncertain significance Single submitter
- BAZ1B p.Pro313Ser Uncertain significance Single submitter
- BAZ1B p.Pro334Leu Uncertain significance Single submitter
- BAZ1B p.Pro424Ser Uncertain significance Single submitter
- BAZ1B p.Pro454Leu Uncertain significance Single submitter
- BAZ1B p.Pro467Leu Uncertain significance Single submitter
- BAZ1B p.Ser1127Ala Uncertain significance Single submitter
- BAZ1B p.Ser1468Gly Uncertain significance Single submitter
- BAZ1B p.Ser1476Ala Uncertain significance Single submitter
- BAZ1B p.Ser58Gly Uncertain significance Single submitter
- BAZ1B p.Ser956Arg Uncertain significance Single submitter
- BAZ1B p.Ser956Asn Uncertain significance Single submitter
- BAZ1B p.Thr105Asn Uncertain significance Single submitter
- BAZ1B p.Thr1130Ser Uncertain significance Single submitter
- BAZ1B p.Thr451Ser Uncertain significance Single submitter
- BAZ1B p.Thr833Arg Uncertain significance Single submitter
- BAZ1B p.Thr901Ser Uncertain significance Single submitter
- BAZ1B p.Thr983Ala Uncertain significance Single submitter
- BAZ1B p.Tyr526Cys Uncertain significance Single submitter
- BAZ1B p.Tyr580Cys Uncertain significance Single submitter
- BAZ1B p.Val1133Ala Uncertain significance Single submitter
- BAZ1B p.Val1140Ile Uncertain significance Single submitter
- BAZ1B p.Val1189Ala Uncertain significance Single submitter
- BAZ1B p.Val1417Ile Uncertain significance Single submitter
- BAZ1B p.Val654Ala Uncertain significance Single submitter
- BAZ1B p.Val654Met Uncertain significance Single submitter
-
BAZ1B p.His27Gln
Uncertain significance
No assertion criteria
BAZ1B-related disorder
Predictors split 49
The independent predictors disagree with each other — read with care.
- BAZ1B p.Arg1020Gly Uncertain significance Single submitter
- BAZ1B p.Arg1238His Uncertain significance Single submitter
- BAZ1B p.Arg1303Gln Uncertain significance Single submitter
- BAZ1B p.Arg1304Cys Uncertain significance Single submitter
- BAZ1B p.Arg1370Thr Uncertain significance Single submitter
- BAZ1B p.Arg48His Uncertain significance Single submitter
- BAZ1B p.Arg513Cys Uncertain significance Single submitter
- BAZ1B p.Arg565Gln Uncertain significance Single submitter
- BAZ1B p.Arg697Cys Uncertain significance Single submitter
- BAZ1B p.Arg798Trp Uncertain significance Single submitter
- BAZ1B p.Arg955Cys Uncertain significance Single submitter
- BAZ1B p.Asp162Glu Uncertain significance Single submitter
- BAZ1B p.Asp192Asn Uncertain significance Single submitter
- BAZ1B p.Asp917Gly Uncertain significance Single submitter
- BAZ1B p.Asp943Tyr Uncertain significance Single submitter
- BAZ1B p.Gln851Arg Uncertain significance Single submitter
- BAZ1B p.Glu1247Lys Uncertain significance Single submitter
- BAZ1B p.Glu141Val Uncertain significance Single submitter
- BAZ1B p.Glu828Gly Uncertain significance Single submitter
- BAZ1B p.Gly1302Cys Uncertain significance Single submitter
-
BAZ1B p.His1382Tyr
Uncertain significance
Single submitter
BAZ1B-related disorder
- BAZ1B p.His173Tyr Uncertain significance Single submitter
- BAZ1B p.Leu1003Phe Uncertain significance Single submitter
- BAZ1B p.Leu16Phe Uncertain significance Single submitter
- BAZ1B p.Lys206Glu Uncertain significance Single submitter
- BAZ1B p.Lys360Arg Uncertain significance Single submitter
- BAZ1B p.Lys386Glu Uncertain significance Single submitter
- BAZ1B p.Lys396Arg Uncertain significance Single submitter
- BAZ1B p.Lys422Arg Uncertain significance Single submitter
- BAZ1B p.Lys425Arg Likely benign Single submitter
- BAZ1B p.Met438Ile Uncertain significance Single submitter
- BAZ1B p.Met438Leu Uncertain significance Single submitter
- BAZ1B p.Pro1009Leu Uncertain significance Single submitter
- BAZ1B p.Pro17Ala Uncertain significance Single submitter
- BAZ1B p.Ser1251Cys Uncertain significance Single submitter
- BAZ1B p.Ser1337Asn Uncertain significance Single submitter
- BAZ1B p.Ser1394Phe Uncertain significance Single submitter
- BAZ1B p.Ser1394Tyr Uncertain significance Single submitter
- BAZ1B p.Ser374Leu Uncertain significance Single submitter
- BAZ1B p.Thr1381Met Uncertain significance Single submitter
- BAZ1B p.Thr741Met Uncertain significance Single submitter
- BAZ1B p.Thr975Ile Uncertain significance Single submitter
- BAZ1B p.Tyr298Cys Uncertain significance Single submitter
- BAZ1B p.Tyr935Cys Uncertain significance Single submitter
- BAZ1B p.Val1074Ala Uncertain significance Single submitter
- BAZ1B p.Val1221Ile Uncertain significance Single submitter
- BAZ1B p.Val1322Met Uncertain significance Single submitter
- BAZ1B p.Val143Met Uncertain significance Single submitter
- BAZ1B p.Val1473Ile Uncertain significance Single submitter
All BAZ1B variants
Benign 5
- p.Gln1434= Multiple submitters
- p.His939Tyr Multiple submitters
- p.Ser679= Multiple submitters
- p.Arg455= Single submitter
- p.Gln664= Single submitter
Benign/Likely benign 4
- p.Glu1142= Multiple submitters
- p.Pro1448= Multiple submitters
- p.Thr734= Multiple submitters
- p.Thr741= Multiple submitters
Likely benign 34
- c.3581-6C>T Multiple submitters
- p.Arg1340Lys Multiple submitters
- c.3071+8G>A Single submitter
- c.3991-9T>G Single submitter
- c.4094+7G>C Single submitter
- p.Arg693= Single submitter
- p.Gln1010= Single submitter
- p.His341= Single submitter
- p.Ile1355= Single submitter
- p.Ile169Thr Single submitter
- p.Leu1109= Single submitter
- p.Leu1345= Single submitter
- p.Leu4= Single submitter
- p.Leu518= Single submitter
- p.Lys142= Single submitter
- p.Lys1431= Single submitter
- p.Lys425Arg Single submitter ⚠
- p.Met369Val Single submitter
- p.Phe616= Single submitter
- p.Phe648= Single submitter
- p.Pro26Ala Single submitter
- p.Pro295= Single submitter
- p.Pro9= Single submitter
- p.Pro920= Single submitter
- p.Ser1293= Single submitter
- p.Ser1476= Single submitter
- p.Ser636= Single submitter
- p.Thr1312= Single submitter
- p.Thr605= Single submitter
- p.Thr983Ile Single submitter
- p.Tyr1025= Single submitter
- p.Val1331= Single submitter
- p.Val762= Single submitter
- p.Val124Ile No assertion criteria BAZ1B-related disorder
Uncertain significance 145
- p.Glu720Asp Multiple submitters ⚠
- p.Ala1082Ser Single submitter ⚠
- p.Ala1148Ser Single submitter ⚠
- p.Ala1182Thr Single submitter ⚠
- p.Ala1319Thr Single submitter ⚠
- p.Ala194Gly Single submitter syndromic intellectual disability ⚠
- p.Ala391Thr Single submitter ⚠
- p.Ala592Val Single submitter ⚠
- p.Ala965Gly Single submitter ⚠
- p.Ala974Val Single submitter ⚠
- p.Arg1020Gly Single submitter ⚠
- p.Arg1120Lys Single submitter ⚠
- p.Arg1238His Single submitter ⚠
- p.Arg1241Cys Single submitter ⚠
- p.Arg1243Gly Single submitter ⚠
- p.Arg1303Gln Single submitter ⚠
- p.Arg1304Cys Single submitter ⚠
- p.Arg1370Thr Single submitter ⚠
- p.Arg452Gln Single submitter ⚠
- p.Arg452Gly Single submitter ⚠
- p.Arg48His Single submitter ⚠
- p.Arg513Cys Single submitter ⚠
- p.Arg565Gln Single submitter ⚠
- p.Arg697Cys Single submitter ⚠
- p.Arg798Trp Single submitter ⚠
- p.Arg936Gly Single submitter ⚠
- p.Arg955Cys Single submitter ⚠
- p.Asn325Asp Single submitter ⚠
- p.Asn333Lys Single submitter ⚠
- p.Asn604Ser Single submitter ⚠
- p.Asn713Asp Single submitter ⚠
- p.Asn938Ser Single submitter ⚠
- p.Asn964Lys Single submitter ⚠
- p.Asn968Lys Single submitter ⚠
- p.Asn968Ser Single submitter ⚠
- p.Asp162Glu Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Asp314Ala Single submitter ⚠
- p.Asp324Glu Single submitter ⚠
- p.Asp712Asn Single submitter ⚠
- p.Asp726Glu Single submitter ⚠
- p.Asp832Asn Single submitter ⚠
- p.Asp917Gly Single submitter ⚠
- p.Asp943Glu Single submitter ⚠
- p.Asp943Tyr Single submitter ⚠
- p.Cys1190Ter Single submitter BAZ1B-related disorder
- p.Gln1346Arg Single submitter ⚠
- p.Gln415Arg Single submitter ⚠
- p.Gln448Arg Single submitter ⚠
- p.Gln830Arg Single submitter ⚠
- p.Gln851Arg Single submitter ⚠
- p.Glu1022Lys Single submitter ⚠
- p.Glu1247Lys Single submitter ⚠
- p.Glu141Lys Single submitter ⚠
- p.Glu141Val Single submitter ⚠
- p.Glu368Lys Single submitter ⚠
- p.Glu564Lys Single submitter ⚠
- p.Glu812Lys Single submitter ⚠
- p.Glu828Gly Single submitter ⚠
- p.Gly1224Ser Single submitter ⚠
- p.Gly1302Arg Single submitter ⚠
- p.Gly1302Cys Single submitter ⚠
- p.Gly1466Glu Single submitter ⚠
- p.Gly1478Arg Single submitter ⚠
- p.Gly18Glu Single submitter ⚠
- p.Gly208Glu Single submitter ⚠
- p.Gly587Asp Single submitter ⚠
- p.Gly948Val Single submitter ⚠
- p.His1310Gln Single submitter ⚠
- p.His1382Tyr Single submitter BAZ1B-related disorder ⚠
- p.His173Tyr Single submitter ⚠
- p.His397Leu Single submitter ⚠
- p.Ile1028Val Single submitter ⚠
- p.Ile190Phe Single submitter ⚠
- p.Ile632Val Single submitter ⚠
- p.Ile824Asn Single submitter ⚠
- p.Ile891Thr Single submitter ⚠
- p.Leu1003Phe Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Leu241Phe Single submitter ⚠
- p.Leu332Val Single submitter ⚠
- p.Lys1121Arg Single submitter ⚠
- p.Lys1198Arg Single submitter ⚠
- p.Lys206Glu Single submitter ⚠
- p.Lys335Gln Single submitter ⚠
- p.Lys360Arg Single submitter ⚠
- p.Lys386Glu Single submitter ⚠
- p.Lys396Arg Single submitter ⚠
- p.Lys422Arg Single submitter ⚠
- p.Lys53Arg Single submitter ⚠
- p.Lys578Arg Single submitter ⚠
- p.Lys77Arg Single submitter ⚠
- p.Met438Ile Single submitter ⚠
- p.Met438Leu Single submitter ⚠
- p.Met801Val Single submitter ⚠
- p.Pro1009Leu Single submitter ⚠
- p.Pro1296Ser Single submitter ⚠
- p.Pro1320Ser Single submitter ⚠
- p.Pro17Ala Single submitter ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro313Ser Single submitter ⚠
- p.Pro334Leu Single submitter ⚠
- p.Pro424Ser Single submitter ⚠
- p.Pro454Leu Single submitter ⚠
- p.Pro467Leu Single submitter ⚠
- p.Ser1127Ala Single submitter ⚠
- p.Ser1251Cys Single submitter ⚠
- p.Ser1337Asn Single submitter ⚠
- p.Ser1394Phe Single submitter ⚠
- p.Ser1394Tyr Single submitter ⚠
- p.Ser1468Gly Single submitter ⚠
- p.Ser1476Ala Single submitter ⚠
- p.Ser374Leu Single submitter ⚠
- p.Ser58Gly Single submitter ⚠
- p.Ser956Arg Single submitter ⚠
- p.Ser956Asn Single submitter ⚠
- p.Thr105Asn Single submitter ⚠
- p.Thr1130Ser Single submitter ⚠
- p.Thr1381Met Single submitter ⚠
- p.Thr451Ser Single submitter ⚠
- p.Thr741Met Single submitter ⚠
- p.Thr833Arg Single submitter ⚠
- p.Thr901Ser Single submitter ⚠
- p.Thr975Ile Single submitter ⚠
- p.Thr983Ala Single submitter ⚠
- p.Tyr298Cys Single submitter ⚠
- p.Tyr526Cys Single submitter ⚠
- p.Tyr580Cys Single submitter ⚠
- p.Tyr935Cys Single submitter ⚠
- p.Val1074Ala Single submitter ⚠
- p.Val1133Ala Single submitter ⚠
- p.Val1140Ile Single submitter ⚠
- p.Val1189Ala Single submitter ⚠
- p.Val1221Ile Single submitter ⚠
- p.Val1322Met Single submitter ⚠
- p.Val1417Ile Single submitter ⚠
- p.Val143Met Single submitter ⚠
- p.Val1473Ile Single submitter ⚠
- p.Val654Ala Single submitter ⚠
- p.Val654Met Single submitter ⚠
- p.Arg1191Ter No assertion criteria BAZ1B-related disorder
- p.Arg254Ter No assertion criteria Williams syndrome
- p.Gly1072= No assertion criteria BAZ1B-related disorder
- p.His27Gln No assertion criteria BAZ1B-related disorder ⚠
- p.Thr439fs No assertion criteria BAZ1B-related disorder