BAZ2A — 264 ClinVar variants

All ClinVar germline BAZ2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 251 flagged for review →

12 Likely benign · 252 Uncertain significance

Full BAZ2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 251

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 165

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 165

Predictors split 86

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

All BAZ2A variants

Likely benign 12

p.Arg1490Ser Single submitter
p.Asn1468Ser Single submitter
p.Asn1871= Single submitter
p.Gln118= Single submitter
p.Ile1639Val Single submitter
p.Ile708Met Single submitter
p.Leu1352Pro Single submitter
p.Met1169Val Single submitter
p.Pro101Ser Single submitter
p.Pro1336= Single submitter
p.Thr575= Single submitter
p.Val474Ala Single submitter

Uncertain significance 252

p.Ala1061Pro Single submitter ⚠
p.Ala1111Ser Single submitter ⚠
p.Ala1160Val Single submitter ⚠
p.Ala1223Val Single submitter ⚠
p.Ala1229Val Single submitter ⚠
p.Ala142Thr Single submitter ⚠
p.Ala1770Val Single submitter ⚠
p.Ala17Val Single submitter ⚠
p.Ala1901Gly Single submitter ⚠
p.Ala1901Thr Single submitter ⚠
p.Ala348Gly Single submitter ⚠
p.Ala353Ser Single submitter ⚠
p.Ala353Val Single submitter ⚠
p.Ala390Val Single submitter ⚠
p.Ala454Thr Single submitter ⚠
p.Ala500Glu Single submitter ⚠
p.Ala506Gly Single submitter ⚠
p.Ala871Thr Single submitter ⚠
p.Ala951Val Single submitter ⚠
p.Ala963Thr Single submitter ⚠
p.Arg1012Trp Single submitter ⚠
p.Arg1021Gln Single submitter ⚠
p.Arg1038Trp Single submitter ⚠
p.Arg1066His Single submitter ⚠
p.Arg1086His Single submitter ⚠
p.Arg1110Trp Single submitter ⚠
p.Arg1122Cys Single submitter ⚠
p.Arg1122His Single submitter ⚠
p.Arg1360Ser Single submitter ⚠
p.Arg1384Ser Single submitter ⚠
p.Arg1385Leu Single submitter ⚠
p.Arg1419His Single submitter ⚠
p.Arg1441Pro Single submitter ⚠
p.Arg1456Gln Single submitter ⚠
p.Arg1534Trp Single submitter ⚠
p.Arg1566Trp Single submitter ⚠
p.Arg1575His Single submitter ⚠
p.Arg1601Gln Single submitter ⚠
p.Arg1601Trp Single submitter ⚠
p.Arg1638Cys Single submitter ⚠
p.Arg1640His Single submitter ⚠
p.Arg1681fs Single submitter
p.Arg1681Gln Single submitter ⚠
p.Arg1739His Single submitter ⚠
p.Arg1757Cys Single submitter ⚠
p.Arg1757His Single submitter ⚠
p.Arg1759Cys Single submitter ⚠
p.Arg1760Gly Single submitter ⚠
p.Arg1760Trp Single submitter ⚠
p.Arg1774Trp Single submitter ⚠
p.Arg1785Trp Single submitter ⚠
p.Arg1787Gln Single submitter ⚠
p.Arg1885His Single submitter ⚠
p.Arg1891Cys Single submitter ⚠
p.Arg563His Single submitter ⚠
p.Arg604Cys Single submitter ⚠
p.Arg654Gln Single submitter ⚠
p.Arg669Trp Single submitter ⚠
p.Arg689Cys Single submitter ⚠
p.Arg736Gly Single submitter ⚠
p.Arg736Trp Single submitter ⚠
p.Arg808Trp Single submitter ⚠
p.Asn1331Ser Single submitter ⚠
p.Asn1365Lys Single submitter ⚠
p.Asn1673Lys Single submitter ⚠
p.Asn1685Ser Single submitter ⚠
p.Asn1902Ser Single submitter ⚠
p.Asn251Asp Single submitter ⚠
p.Asn48His Single submitter ⚠
p.Asn54Ser Single submitter ⚠
p.Asn688Ser Single submitter ⚠
p.Asn701Ser Single submitter ⚠
p.Asn734Tyr Single submitter ⚠
p.Asp1071Asn Single submitter ⚠
p.Asp1442Val Single submitter ⚠
p.Asp1556Asn Single submitter ⚠
p.Asp1560Glu Single submitter ⚠
p.Asp355Glu Single submitter ⚠
p.Asp401Gly Single submitter ⚠
p.Asp5Asn Single submitter ⚠
p.Asp618Glu Single submitter ⚠
p.Asp908Val Single submitter ⚠
p.Asp933Glu Single submitter ⚠
p.Cys1367Phe Single submitter ⚠
p.Cys1551Ser Single submitter ⚠
p.Cys89Tyr Single submitter ⚠
p.Cys953Arg Single submitter ⚠
p.Cys953Tyr Single submitter ⚠
p.Gln1371Leu Single submitter ⚠
p.Gln1524Lys Single submitter ⚠
p.Gln413Glu Single submitter ⚠
p.Gln633Pro Single submitter ⚠
p.Gln968Lys Single submitter ⚠
p.Glu1073Lys Single submitter ⚠
p.Glu1307Asp Single submitter ⚠
p.Glu1521Lys Single submitter ⚠
p.Glu1521Val Single submitter ⚠
p.Glu1647Lys Single submitter ⚠
p.Glu1663Lys Single submitter ⚠
p.Glu1778Asp Single submitter ⚠
p.Glu1778Lys Single submitter ⚠
p.Glu1818Gln Single submitter ⚠
p.Glu1872Lys Single submitter ⚠
p.Glu1889Ala Single submitter ⚠
p.Glu374Gln Single submitter ⚠
p.Glu606Val Single submitter ⚠
p.Glu695Gln Single submitter ⚠
p.Glu782Gly Single submitter ⚠
p.Glu785Asp Single submitter ⚠
p.Glu882Gln Single submitter ⚠
p.Glu949Asp Single submitter ⚠
p.Gly1031Ala Single submitter ⚠
p.Gly1050Ala Single submitter ⚠
p.Gly1065Val Single submitter ⚠
p.Gly1209Asp Single submitter ⚠
p.Gly1250Val Single submitter ⚠
p.Gly1256Ser Single submitter ⚠
p.Gly126Arg Single submitter ⚠
p.Gly1498Trp Single submitter ⚠
p.Gly1746Asp Single submitter ⚠
p.Gly1827Arg Single submitter ⚠
p.Gly229Val Single submitter ⚠
p.Gly537Asp Single submitter ⚠
p.Gly567Ser Single submitter ⚠
p.Gly863Asp Single submitter ⚠
p.His1277Arg Single submitter ⚠
p.His1466Gln Single submitter ⚠
p.His212Arg Single submitter ⚠
p.His261Asp Single submitter ⚠
p.Ile1486Met Single submitter ⚠
p.Ile1831Val Single submitter ⚠
p.Ile1832Leu Single submitter ⚠
p.Ile291Val Single submitter ⚠
p.Ile526Asn Single submitter ⚠
p.Ile855Thr Single submitter ⚠
p.Ile986Met Single submitter ⚠
p.Leu1096Val Single submitter ⚠
p.Leu1219Pro Single submitter ⚠
p.Leu1246Pro Single submitter ⚠
p.Leu140Phe Single submitter ⚠
p.Leu1659Val Single submitter ⚠
p.Leu1678Val Single submitter ⚠
p.Leu1861Phe Single submitter ⚠
p.Leu276Ser Single submitter ⚠
p.Leu312Pro Single submitter ⚠
p.Leu31Pro Single submitter ⚠
p.Leu47Val Single submitter ⚠
p.Leu683Ser Single submitter ⚠
p.Leu743Ser Single submitter ⚠
p.Leu866Val Single submitter ⚠
p.Lys1004Arg Single submitter ⚠
p.Lys1383Arg Single submitter ⚠
p.Lys1414Asn Single submitter ⚠
p.Lys565Arg Single submitter ⚠
p.Lys666Arg Single submitter ⚠
p.Lys692Gln Single submitter ⚠
p.Lys741Arg Single submitter ⚠
p.Lys749Arg Single submitter ⚠
p.Lys767Asn Single submitter ⚠
p.Lys919Arg Single submitter ⚠
p.Met1045Thr Single submitter ⚠
p.Met1051Thr Single submitter ⚠
p.Met1171Thr Single submitter ⚠
p.Met1171Val Single submitter ⚠
p.Met1416Ile Single submitter ⚠
p.Met1528Ile Single submitter ⚠
p.Met177Lys Single submitter ⚠
p.Met177Val Single submitter ⚠
p.Met321Leu Single submitter ⚠
p.Met997Thr Single submitter ⚠
p.Phe174Ser Single submitter ⚠
p.Phe1895Leu Single submitter ⚠
p.Phe40Tyr Single submitter ⚠
p.Phe836Leu Single submitter ⚠
p.Phe975Cys Single submitter ⚠
p.Pro1206Leu Single submitter ⚠
p.Pro1252Ala Single submitter ⚠
p.Pro1292Leu Single submitter ⚠
p.Pro1317Ala Single submitter ⚠
p.Pro1349Ser Single submitter ⚠
p.Pro1382Ser Single submitter ⚠
p.Pro1393Leu Single submitter ⚠
p.Pro13Leu Single submitter ⚠
p.Pro1428Leu Single submitter ⚠
p.Pro1485Ala Single submitter ⚠
p.Pro1734Ser Single submitter ⚠
p.Pro1737Arg Single submitter ⚠
p.Pro182Leu Single submitter ⚠
p.Pro403Leu Single submitter ⚠
p.Pro409Leu Single submitter ⚠
p.Pro449Ser Single submitter ⚠
p.Pro469Ala Single submitter ⚠
p.Pro476Leu Single submitter ⚠
p.Pro483Leu Single submitter ⚠
p.Pro626Leu Single submitter ⚠
p.Pro690Ser Single submitter ⚠
p.Pro832Leu Single submitter ⚠
p.Ser1049Gly Single submitter ⚠
p.Ser1168Phe Single submitter ⚠
p.Ser1241Pro Single submitter ⚠
p.Ser132Ala Single submitter ⚠
p.Ser1362Arg Single submitter ⚠
p.Ser1410Thr Single submitter ⚠
p.Ser1618Asn Single submitter ⚠
p.Ser1776Leu Single submitter ⚠
p.Ser1789Phe Single submitter ⚠
p.Ser1809Phe Single submitter ⚠
p.Ser1852Thr Single submitter ⚠
p.Ser1890Arg Single submitter ⚠
p.Ser259Leu Single submitter ⚠
p.Ser274Asn Single submitter ⚠
p.Ser479Pro Single submitter ⚠
p.Ser534Ala Single submitter ⚠
p.Ser78Pro Single submitter ⚠
p.Ser876Gly Single submitter ⚠
p.Ser996Gly Single submitter ⚠
p.Thr1077Ile Single submitter ⚠
p.Thr138Ala Single submitter ⚠
p.Thr1607Pro Single submitter ⚠
p.Thr186Asn Single submitter ⚠
p.Thr186Ser Single submitter ⚠
p.Thr289Ala Single submitter ⚠
p.Thr367Ser Single submitter ⚠
p.Thr457Ser Single submitter ⚠
p.Thr485Met Single submitter ⚠
p.Thr519Ile Single submitter ⚠
p.Thr520Pro Single submitter ⚠
p.Thr532Ile Single submitter ⚠
p.Thr532Ser Single submitter ⚠
p.Thr62Ala Single submitter ⚠
p.Thr801Ala Single submitter ⚠
p.Thr828Ser Single submitter ⚠
p.Tyr1128Cys Single submitter ⚠
p.Tyr1633Asn Single submitter ⚠
p.Tyr1633Cys Single submitter ⚠
p.Tyr250His Single submitter ⚠
p.Tyr32Cys Single submitter ⚠
p.Val1156Met Single submitter ⚠
p.Val1515Leu Single submitter ⚠
p.Val1672Ile Single submitter ⚠
p.Val1679Ile Single submitter ⚠
p.Val224Ala Single submitter ⚠
p.Val273Met Single submitter ⚠
p.Val308Ala Single submitter ⚠
p.Val308Leu Single submitter ⚠
p.Val467Leu Single submitter ⚠
p.Val599Leu Single submitter ⚠
p.Val599Met Single submitter ⚠
p.Val632Ala Single submitter ⚠
p.Val664Asp Single submitter ⚠
p.Val85Leu Single submitter ⚠
p.Val977Leu Single submitter ⚠