BAZ1A — 163 ClinVar variants
All ClinVar germline BAZ1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →
1 Pathogenic · 2 Benign · 10 Likely benign · 150 Uncertain significance
Full BAZ1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 153
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
BAZ1A p.Arg1093Gln
Pathogenic
No assertion criteria
VATER/VACTERL association with CNS malformations
Predictors lean, ClinVar uncertain 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BAZ1A p.Ala1551Val Uncertain significance Single submitter
- BAZ1A p.Ala272Val Uncertain significance Single submitter
- BAZ1A p.Ala298Gly Uncertain significance Single submitter
- BAZ1A p.Ala304Thr Uncertain significance Single submitter
- BAZ1A p.Ala772Val Uncertain significance Single submitter
- BAZ1A p.Arg100Cys Uncertain significance Single submitter
- BAZ1A p.Arg1115His Uncertain significance Single submitter
- BAZ1A p.Arg1330Ser Uncertain significance Single submitter
- BAZ1A p.Arg1355His Uncertain significance Single submitter
- BAZ1A p.Arg1555Gln Uncertain significance Single submitter
- BAZ1A p.Arg221Cys Uncertain significance Single submitter
- BAZ1A p.Arg369Lys Uncertain significance Single submitter
- BAZ1A p.Arg378Lys Uncertain significance Single submitter
- BAZ1A p.Arg590His Uncertain significance Single submitter
- BAZ1A p.Arg657Gly Uncertain significance Single submitter
- BAZ1A p.Arg748Lys Uncertain significance Single submitter
- BAZ1A p.Arg767Thr Uncertain significance Single submitter
- BAZ1A p.Arg784Gln Uncertain significance Single submitter
- BAZ1A p.Arg784Leu Uncertain significance Single submitter
- BAZ1A p.Arg928Lys Uncertain significance Single submitter
- BAZ1A p.Arg935Cys Uncertain significance Single submitter
- BAZ1A p.Asn127Ser Uncertain significance Single submitter
- BAZ1A p.Asn273Lys Uncertain significance Single submitter
- BAZ1A p.Asn290Thr Uncertain significance Single submitter
- BAZ1A p.Asn31Lys Uncertain significance Single submitter
- BAZ1A p.Asn464Ser Uncertain significance Single submitter
- BAZ1A p.Asn763Ser Uncertain significance Single submitter
- BAZ1A p.Asn870Lys Uncertain significance Single submitter
- BAZ1A p.Asn962Ile Uncertain significance Single submitter
- BAZ1A p.Asp1034Gly Uncertain significance Single submitter
- BAZ1A p.Asp1170Glu Uncertain significance Single submitter
- BAZ1A p.Asp1232Val Uncertain significance Single submitter
- BAZ1A p.Asp1543His Uncertain significance Single submitter
- BAZ1A p.Asp632Gly Uncertain significance Single submitter
- BAZ1A p.Cys1169Tyr Uncertain significance Single submitter
- BAZ1A p.Cys27Arg Uncertain significance Single submitter
- BAZ1A p.Cys898Ser Uncertain significance Single submitter
- BAZ1A p.Cys930Tyr Uncertain significance Single submitter
- BAZ1A p.Gln1208Glu Uncertain significance Single submitter
- BAZ1A p.Gln1237Lys Uncertain significance Single submitter
- BAZ1A p.Gln1247Arg Uncertain significance Single submitter
- BAZ1A p.Gln133His Uncertain significance Single submitter
- BAZ1A p.Gln1387Pro Uncertain significance Single submitter
- BAZ1A p.Gln761His Uncertain significance Single submitter
- BAZ1A p.Gln794Arg Uncertain significance Single submitter
- BAZ1A p.Gln849Arg Uncertain significance Single submitter
- BAZ1A p.Gln932His Uncertain significance Single submitter
- BAZ1A p.Glu662Ala Uncertain significance Single submitter
- BAZ1A p.Gly1264Arg Uncertain significance Single submitter
- BAZ1A p.Gly1422Asp Uncertain significance Single submitter
- BAZ1A p.His152Gln Uncertain significance Single submitter
- BAZ1A p.His284Gln Uncertain significance Single submitter
- BAZ1A p.His284Tyr Uncertain significance Single submitter
- BAZ1A p.His36Tyr Uncertain significance Single submitter
- BAZ1A p.Ile1047Thr Uncertain significance Single submitter
- BAZ1A p.Ile125Val Uncertain significance Single submitter
- BAZ1A p.Ile1331Thr Uncertain significance Single submitter
- BAZ1A p.Ile33Val Uncertain significance Single submitter
- BAZ1A p.Ile640Thr Uncertain significance Single submitter
- BAZ1A p.Ile701Leu Uncertain significance Single submitter
- BAZ1A p.Ile820Val Uncertain significance Single submitter
- BAZ1A p.Leu1053Phe Uncertain significance Single submitter
- BAZ1A p.Leu1351Met Uncertain significance Single submitter
- BAZ1A p.Leu226His Uncertain significance Single submitter
- BAZ1A p.Leu473Phe Uncertain significance Single submitter
-
BAZ1A p.Lys13Thr
Uncertain significance
Single submitter
BAZ1A-related disorder
- BAZ1A p.Lys180Arg Uncertain significance Single submitter
- BAZ1A p.Lys180Asn Uncertain significance Single submitter
- BAZ1A p.Lys540Arg Uncertain significance Single submitter
- BAZ1A p.Lys570Arg Uncertain significance Single submitter
- BAZ1A p.Met587Val Uncertain significance Single submitter
- BAZ1A p.Met729Arg Uncertain significance Single submitter
- BAZ1A p.Pro1266Arg Uncertain significance Single submitter
- BAZ1A p.Pro1322Thr Uncertain significance Single submitter
- BAZ1A p.Pro261Ser Uncertain significance Single submitter
- BAZ1A p.Pro398Leu Uncertain significance Single submitter
- BAZ1A p.Pro515Ala Uncertain significance Single submitter
- BAZ1A p.Pro737Leu Uncertain significance Single submitter
- BAZ1A p.Pro947Ser Uncertain significance Single submitter
- BAZ1A p.Pro949Ser Uncertain significance Single submitter
- BAZ1A p.Ser1398Thr Uncertain significance Single submitter
- BAZ1A p.Ser396Asn Uncertain significance Single submitter
- BAZ1A p.Thr1324Ala Uncertain significance Single submitter
- BAZ1A p.Thr1336Ala Uncertain significance Single submitter
- BAZ1A p.Thr248Lys Uncertain significance Single submitter
- BAZ1A p.Thr868Ala Uncertain significance Single submitter
- BAZ1A p.Tyr258Cys Uncertain significance Single submitter
- BAZ1A p.Tyr37His Uncertain significance Single submitter
- BAZ1A p.Tyr64His Uncertain significance Single submitter
- BAZ1A p.Val1035Ala Uncertain significance Single submitter
- BAZ1A p.Val1046Ile Uncertain significance Single submitter
- BAZ1A p.Val1164Ile Uncertain significance Single submitter
- BAZ1A p.Val118Ile Uncertain significance Single submitter
-
BAZ1A p.Val765Gly
Uncertain significance
Single submitter
BAZ1A-related disorder
- BAZ1A p.Val855Glu Uncertain significance Single submitter
-
BAZ1A p.Ser1436Phe
Uncertain significance
No assertion criteria
BAZ1A-related disorder
Predictors split 56
The independent predictors disagree with each other — read with care.
- BAZ1A p.Ala337Val Uncertain significance Single submitter
- BAZ1A p.Ala619Thr Uncertain significance Single submitter
- BAZ1A p.Ala777Val Uncertain significance Single submitter
- BAZ1A p.Arg1014Trp Uncertain significance Single submitter
- BAZ1A p.Arg1107Cys Uncertain significance Single submitter
- BAZ1A p.Arg1285His Uncertain significance Single submitter
- BAZ1A p.Arg1337Cys Uncertain significance Single submitter
- BAZ1A p.Arg1358His Uncertain significance Single submitter
- BAZ1A p.Arg1358Leu Uncertain significance Single submitter
- BAZ1A p.Arg1423Gln Uncertain significance Single submitter
- BAZ1A p.Arg1428Gln Uncertain significance Single submitter
- BAZ1A p.Arg1511Gly Uncertain significance Single submitter
- BAZ1A p.Arg221His Uncertain significance Single submitter
- BAZ1A p.Arg275Gln Uncertain significance Single submitter
- BAZ1A p.Arg282Gln Uncertain significance Single submitter
- BAZ1A p.Arg959Ile Uncertain significance Single submitter
- BAZ1A p.Asn31Ser Uncertain significance Single submitter
- BAZ1A p.Asp1215Tyr Uncertain significance Single submitter
- BAZ1A p.Asp289His Uncertain significance Single submitter
- BAZ1A p.Gln314Pro Uncertain significance Single submitter
- BAZ1A p.Gln932Arg Uncertain significance Single submitter
- BAZ1A p.Glu159Lys Uncertain significance Single submitter
- BAZ1A p.Glu170Gly Uncertain significance Single submitter
- BAZ1A p.Glu233Gly Uncertain significance Single submitter
- BAZ1A p.Glu23Gln Uncertain significance Single submitter
- BAZ1A p.Glu677Val Uncertain significance Single submitter
- BAZ1A p.Glu721Gln Uncertain significance Single submitter
- BAZ1A p.Gly1026Arg Uncertain significance Single submitter
- BAZ1A p.His534Gln Uncertain significance Single submitter
- BAZ1A p.Ile929Val Uncertain significance Single submitter
- BAZ1A p.Leu335Val Uncertain significance Single submitter
- BAZ1A p.Lys250Gln Uncertain significance Single submitter
- BAZ1A p.Lys331Asn Uncertain significance Single submitter
- BAZ1A p.Phe803Leu Uncertain significance Single submitter
- BAZ1A p.Pro280Ser Uncertain significance Single submitter
- BAZ1A p.Pro769Ser Uncertain significance Single submitter
- BAZ1A p.Pro885Ala Uncertain significance Single submitter
- BAZ1A p.Ser1335Cys Uncertain significance Single submitter
- BAZ1A p.Ser1371Gly Uncertain significance Single submitter
- BAZ1A p.Ser1514Gly Uncertain significance Single submitter
- BAZ1A p.Ser244Leu Uncertain significance Single submitter
- BAZ1A p.Ser94Arg Uncertain significance Single submitter
- BAZ1A p.Ser94Gly Uncertain significance Single submitter
- BAZ1A p.Ser99Leu Uncertain significance Single submitter
- BAZ1A p.Ser99Trp Uncertain significance Single submitter
- BAZ1A p.Thr1057Ile Uncertain significance Single submitter
- BAZ1A p.Thr1062Ile Uncertain significance Single submitter
- BAZ1A p.Thr1175Ala Uncertain significance Single submitter
- BAZ1A p.Thr1175Asn Uncertain significance Single submitter
- BAZ1A p.Thr248Met Uncertain significance Single submitter
- BAZ1A p.Thr418Ser Uncertain significance Single submitter
- BAZ1A p.Thr698Met Uncertain significance Single submitter
- BAZ1A p.Tyr829Phe Uncertain significance Single submitter
- BAZ1A p.Val124Ile Uncertain significance Single submitter
-
BAZ1A p.Asp1232Asn
Likely benign
No assertion criteria
BAZ1A-related disorder
-
BAZ1A p.Glu906Gly
Likely benign
No assertion criteria
BAZ1A-related disorder
All BAZ1A variants
Pathogenic 1
- p.Arg1093Gln No assertion criteria VATER/VACTERL association with CNS malformations ⚠
Benign 2
- p.Arg876Cys Multiple submitters
- p.Leu1017= Multiple submitters
Likely benign 10
- p.Asn290Ser Single submitter
- p.Asn31= Single submitter
- p.Asn962Ser Single submitter
- p.Ile185Val Single submitter
- p.Ile703Val Single submitter
- p.Tyr991= Single submitter
- p.Asn1366del No assertion criteria BAZ1A-related disorder
- p.Asp1232Asn No assertion criteria BAZ1A-related disorder ⚠
- p.Glu906Gly No assertion criteria BAZ1A-related disorder ⚠
- p.Thr698= No assertion criteria BAZ1A-related disorder
Uncertain significance 150
- p.Ala1551Val Single submitter ⚠
- p.Ala272Val Single submitter ⚠
- p.Ala298Gly Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala337Val Single submitter ⚠
- p.Ala619Thr Single submitter ⚠
- p.Ala772Val Single submitter ⚠
- p.Ala777Val Single submitter ⚠
- p.Arg100Cys Single submitter ⚠
- p.Arg1014Trp Single submitter ⚠
- p.Arg1107Cys Single submitter ⚠
- p.Arg1115His Single submitter ⚠
- p.Arg1285His Single submitter ⚠
- p.Arg1330Ser Single submitter ⚠
- p.Arg1337Cys Single submitter ⚠
- p.Arg1355His Single submitter ⚠
- p.Arg1358His Single submitter ⚠
- p.Arg1358Leu Single submitter ⚠
- p.Arg1423Gln Single submitter ⚠
- p.Arg1428Gln Single submitter ⚠
- p.Arg1511Gly Single submitter ⚠
- p.Arg1555Gln Single submitter ⚠
- p.Arg221Cys Single submitter ⚠
- p.Arg221His Single submitter ⚠
- p.Arg275Gln Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg369Lys Single submitter ⚠
- p.Arg378Lys Single submitter ⚠
- p.Arg590His Single submitter ⚠
- p.Arg657Gly Single submitter ⚠
- p.Arg748Lys Single submitter ⚠
- p.Arg767Thr Single submitter ⚠
- p.Arg784Gln Single submitter ⚠
- p.Arg784Leu Single submitter ⚠
- p.Arg928Lys Single submitter ⚠
- p.Arg935Cys Single submitter ⚠
- p.Arg959Ile Single submitter ⚠
- p.Asn127Ser Single submitter ⚠
- p.Asn273Lys Single submitter ⚠
- p.Asn290Thr Single submitter ⚠
- p.Asn31Lys Single submitter ⚠
- p.Asn31Ser Single submitter ⚠
- p.Asn464Ser Single submitter ⚠
- p.Asn763Ser Single submitter ⚠
- p.Asn870Lys Single submitter ⚠
- p.Asn962Ile Single submitter ⚠
- p.Asp1034Gly Single submitter ⚠
- p.Asp1170Glu Single submitter ⚠
- p.Asp1215Tyr Single submitter ⚠
- p.Asp1232Val Single submitter ⚠
- p.Asp1543His Single submitter ⚠
- p.Asp289His Single submitter ⚠
- p.Asp632Gly Single submitter ⚠
- p.Cys1169Tyr Single submitter ⚠
- p.Cys27Arg Single submitter ⚠
- p.Cys898Ser Single submitter ⚠
- p.Cys930Tyr Single submitter ⚠
- p.Gln1208Glu Single submitter ⚠
- p.Gln1237Lys Single submitter ⚠
- p.Gln1247Arg Single submitter ⚠
- p.Gln133His Single submitter ⚠
- p.Gln1387Pro Single submitter ⚠
- p.Gln314Pro Single submitter ⚠
- p.Gln761His Single submitter ⚠
- p.Gln794Arg Single submitter ⚠
- p.Gln849Arg Single submitter ⚠
- p.Gln932Arg Single submitter ⚠
- p.Gln932His Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu170Gly Single submitter ⚠
- p.Glu233Gly Single submitter ⚠
- p.Glu23Gln Single submitter ⚠
- p.Glu662Ala Single submitter ⚠
- p.Glu677Val Single submitter ⚠
- p.Glu721Gln Single submitter ⚠
- p.Gly1026Arg Single submitter ⚠
- p.Gly1264Arg Single submitter ⚠
- p.Gly1422Asp Single submitter ⚠
- p.His152Gln Single submitter ⚠
- p.His284Gln Single submitter ⚠
- p.His284Tyr Single submitter ⚠
- p.His36Tyr Single submitter ⚠
- p.His534Gln Single submitter ⚠
- p.Ile1047Thr Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Ile1331Thr Single submitter ⚠
- p.Ile33Val Single submitter ⚠
- p.Ile640Thr Single submitter ⚠
- p.Ile701Leu Single submitter ⚠
- p.Ile820Val Single submitter ⚠
- p.Ile929Val Single submitter ⚠
- p.Leu1053Phe Single submitter ⚠
- p.Leu1351Met Single submitter ⚠
- p.Leu226His Single submitter ⚠
- p.Leu335Val Single submitter ⚠
- p.Leu473Phe Single submitter ⚠
- p.Lys13Thr Single submitter BAZ1A-related disorder ⚠
- p.Lys180Arg Single submitter ⚠
- p.Lys180Asn Single submitter ⚠
- p.Lys250Gln Single submitter ⚠
- p.Lys331Asn Single submitter ⚠
- p.Lys540Arg Single submitter ⚠
- p.Lys570Arg Single submitter ⚠
- p.Met587Val Single submitter ⚠
- p.Met729Arg Single submitter ⚠
- p.Phe803Leu Single submitter ⚠
- p.Pro1266Arg Single submitter ⚠
- p.Pro1322Thr Single submitter ⚠
- p.Pro261Ser Single submitter ⚠
- p.Pro280Ser Single submitter ⚠
- p.Pro398Leu Single submitter ⚠
- p.Pro515Ala Single submitter ⚠
- p.Pro737Leu Single submitter ⚠
- p.Pro769Ser Single submitter ⚠
- p.Pro885Ala Single submitter ⚠
- p.Pro947Ser Single submitter ⚠
- p.Pro949Ser Single submitter ⚠
- p.Ser1335Cys Single submitter ⚠
- p.Ser1371Gly Single submitter ⚠
- p.Ser1398Thr Single submitter ⚠
- p.Ser1514Gly Single submitter ⚠
- p.Ser244Leu Single submitter ⚠
- p.Ser396Asn Single submitter ⚠
- p.Ser94Arg Single submitter ⚠
- p.Ser94Gly Single submitter ⚠
- p.Ser99Leu Single submitter ⚠
- p.Ser99Trp Single submitter ⚠
- p.Thr1057Ile Single submitter ⚠
- p.Thr1062Ile Single submitter ⚠
- p.Thr1175Ala Single submitter ⚠
- p.Thr1175Asn Single submitter ⚠
- p.Thr1324Ala Single submitter ⚠
- p.Thr1336Ala Single submitter ⚠
- p.Thr248Lys Single submitter ⚠
- p.Thr248Met Single submitter ⚠
- p.Thr418Ser Single submitter ⚠
- p.Thr698Met Single submitter ⚠
- p.Thr868Ala Single submitter ⚠
- p.Tyr258Cys Single submitter ⚠
- p.Tyr37His Single submitter ⚠
- p.Tyr64His Single submitter ⚠
- p.Tyr829Phe Single submitter ⚠
- p.Val1035Ala Single submitter ⚠
- p.Val1046Ile Single submitter ⚠
- p.Val1164Ile Single submitter ⚠
- p.Val118Ile Single submitter ⚠
- p.Val124Ile Single submitter ⚠
- p.Val765Gly Single submitter BAZ1A-related disorder ⚠
- p.Val855Glu Single submitter ⚠
- p.Ser1436Phe No assertion criteria BAZ1A-related disorder ⚠