ARID5B — 140 ClinVar variants
All ClinVar germline ARID5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →
5 Benign · 14 Likely benign · 121 Uncertain significance
Full ARID5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 112
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 100
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARID5B p.Ala1008Val Uncertain significance Single submitter
- ARID5B p.Ala1009Val Uncertain significance Single submitter
- ARID5B p.Ala1030Val Uncertain significance Single submitter
- ARID5B p.Ala1057Val Uncertain significance Single submitter
- ARID5B p.Ala290Thr Uncertain significance Single submitter
- ARID5B p.Ala569Val Uncertain significance Single submitter
- ARID5B p.Ala745Val Uncertain significance Single submitter
- ARID5B p.Ala899Asp Uncertain significance Single submitter
- ARID5B p.Arg1010Gln Uncertain significance Single submitter
- ARID5B p.Arg335Ser Uncertain significance Single submitter
- ARID5B p.Arg372His Uncertain significance Single submitter
- ARID5B p.Arg780Gln Uncertain significance Single submitter
- ARID5B p.Arg780Gly Uncertain significance Single submitter
- ARID5B p.Arg785His Uncertain significance Single submitter
- ARID5B p.Asn1160Asp Uncertain significance Single submitter
- ARID5B p.Asn274Ser Uncertain significance Single submitter
- ARID5B p.Asp227Ala Uncertain significance Single submitter
- ARID5B p.Asp521Glu Uncertain significance Single submitter
- ARID5B p.Asp552His Uncertain significance Single submitter
- ARID5B p.Asp613Asn Uncertain significance Single submitter
- ARID5B p.Asp637Tyr Uncertain significance Single submitter
- ARID5B p.Asp726Glu Uncertain significance Single submitter
- ARID5B p.Asp742Glu Uncertain significance Single submitter
- ARID5B p.Asp89Glu Uncertain significance Single submitter
- ARID5B p.Cys258Gly Uncertain significance Single submitter
- ARID5B p.Gln602Lys Uncertain significance Single submitter
- ARID5B p.Gln939His Uncertain significance Single submitter
- ARID5B p.Glu1052Lys Uncertain significance Single submitter
- ARID5B p.Glu163Gln Uncertain significance Single submitter
- ARID5B p.Glu519Lys Uncertain significance Single submitter
- ARID5B p.Gly1007Ala Uncertain significance Single submitter
- ARID5B p.Gly1068Val Uncertain significance Single submitter
- ARID5B p.Gly277Asp Uncertain significance Single submitter
- ARID5B p.Gly277Val Uncertain significance Single submitter
- ARID5B p.Gly440Ala Uncertain significance Single submitter
- ARID5B p.Gly499Glu Uncertain significance Single submitter
- ARID5B p.Gly537Arg Uncertain significance Single submitter
- ARID5B p.Gly664Glu Uncertain significance Single submitter
- ARID5B p.His1069Gln Uncertain significance Single submitter
- ARID5B p.His114Arg Uncertain significance Single submitter
- ARID5B p.His114Gln Uncertain significance Single submitter
- ARID5B p.His1159Arg Uncertain significance Single submitter
- ARID5B p.His775Gln Uncertain significance Single submitter
- ARID5B p.His821Asn Uncertain significance Single submitter
- ARID5B p.His821Asp Uncertain significance Single submitter
- ARID5B p.His873Tyr Uncertain significance Single submitter
- ARID5B p.His980Gln Uncertain significance Single submitter
- ARID5B p.Ile1006Val Uncertain significance Single submitter
- ARID5B p.Ile313Leu Uncertain significance Single submitter
- ARID5B p.Ile444Val Uncertain significance Single submitter
- ARID5B p.Ile448Thr Uncertain significance Single submitter
- ARID5B p.Ile484Phe Uncertain significance Single submitter
- ARID5B p.Ile497Thr Uncertain significance Single submitter
- ARID5B p.Leu1073Phe Uncertain significance Single submitter
- ARID5B p.Leu1091Phe Uncertain significance Single submitter
- ARID5B p.Leu161Ile Uncertain significance Single submitter
- ARID5B p.Leu542Ile Uncertain significance Single submitter
- ARID5B p.Leu542Pro Uncertain significance Single submitter
- ARID5B p.Leu555Phe Uncertain significance Single submitter
- ARID5B p.Leu796Phe Uncertain significance Single submitter
- ARID5B p.Leu879Phe Uncertain significance Single submitter
- ARID5B p.Lys145Arg Uncertain significance Single submitter
- ARID5B p.Lys551Ile Uncertain significance Single submitter
- ARID5B p.Lys578Ile Uncertain significance Single submitter
- ARID5B p.Lys855Glu Uncertain significance Single submitter
- ARID5B p.Lys966Glu Uncertain significance Single submitter
- ARID5B p.Met332Ile Uncertain significance Single submitter
- ARID5B p.Met619Ile Uncertain significance Single submitter
- ARID5B p.Met619Thr Uncertain significance Single submitter
- ARID5B p.Met744Thr Uncertain significance Single submitter
- ARID5B p.Met824Thr Uncertain significance Single submitter
- ARID5B p.Met861Val Uncertain significance Single submitter
- ARID5B p.Phe788Ile Uncertain significance Single submitter
- ARID5B p.Pro1134Leu Uncertain significance Single submitter
- ARID5B p.Pro12Gln Uncertain significance Single submitter
- ARID5B p.Pro220Ser Uncertain significance Single submitter
- ARID5B p.Pro590Ser Uncertain significance Single submitter
- ARID5B p.Pro604Leu Uncertain significance Single submitter
- ARID5B p.Pro715Ala Uncertain significance Single submitter
- ARID5B p.Ser1085Asn Uncertain significance Single submitter
- ARID5B p.Ser1093Phe Uncertain significance Single submitter
- ARID5B p.Ser1137Cys Uncertain significance Single submitter
- ARID5B p.Ser266Gly Uncertain significance Single submitter
- ARID5B p.Ser428Arg Uncertain significance Single submitter
- ARID5B p.Ser451Asn Uncertain significance Single submitter
- ARID5B p.Ser588Arg Uncertain significance Single submitter
- ARID5B p.Ser703Gly Uncertain significance Single submitter
- ARID5B p.Thr47Lys Uncertain significance Single submitter
- ARID5B p.Thr583Ile Uncertain significance Single submitter
- ARID5B p.Thr645Ser Uncertain significance Single submitter
- ARID5B p.Thr675Met Uncertain significance Single submitter
- ARID5B p.Thr901Ala Uncertain significance Single submitter
- ARID5B p.Val1040Ile Uncertain significance Single submitter
- ARID5B p.Val113Leu Uncertain significance Single submitter
- ARID5B p.Val176Leu Uncertain significance Single submitter
- ARID5B p.Val215Met Uncertain significance Single submitter
- ARID5B p.Val755Ile Uncertain significance Single submitter
-
ARID5B p.Arg335Thr
Uncertain significance
No assertion criteria
ARID5B-related disorder
-
ARID5B p.Leu1095His
Uncertain significance
No assertion criteria
ARID5B-related disorder
-
ARID5B p.Thr441Asn
Uncertain significance
No assertion criteria
ARID5B-related disorder
Predictors split 12
The independent predictors disagree with each other — read with care.
- ARID5B p.Ala97Val Uncertain significance Single submitter
- ARID5B p.Arg262Gly Uncertain significance Single submitter
- ARID5B p.Cys317Arg Uncertain significance Single submitter
-
ARID5B p.Cys46Tyr
Uncertain significance
Single submitter
ARID5B-related disorder
- ARID5B p.Gln1109His Uncertain significance Single submitter
- ARID5B p.Glu243Gly Uncertain significance Single submitter
- ARID5B p.Gly154Arg Uncertain significance Single submitter
- ARID5B p.Leu78His Uncertain significance Single submitter
- ARID5B p.Lys1026Glu Uncertain significance Single submitter
- ARID5B p.Lys629Thr Uncertain significance Single submitter
- ARID5B p.Met1126Ile Uncertain significance Single submitter
- ARID5B p.Pro715Thr Uncertain significance Single submitter
All ARID5B variants
Benign 5
- p.Ser971= Multiple submitters
- p.Lys912= Single submitter
- p.Ala618Thr No assertion criteria ARID5B-related disorder
- p.Pro604= No assertion criteria ARID5B-related disorder
- p.Val801Ala No assertion criteria ARID5B-related disorder
Likely benign 14
- p.Leu210= Single submitter
- c.1102-4dup No assertion criteria ARID5B-related disorder
- c.22-6dup No assertion criteria ARID5B-related disorder
- p.Ala1028= No assertion criteria ARID5B-related disorder
- p.Ala533= No assertion criteria ARID5B-related disorder
- p.Ala745= No assertion criteria ARID5B-related disorder
- p.Asp636= No assertion criteria ARID5B-related disorder
- p.Glu612del No assertion criteria ARID5B-related disorder
- p.Gly499= No assertion criteria ARID5B-related disorder
- p.His125= No assertion criteria ARID5B-related disorder
- p.Lys816= No assertion criteria ARID5B-related disorder
- p.Pro257= No assertion criteria ARID5B-related disorder
- p.Ser854= No assertion criteria ARID5B-related disorder
- p.Thr885= No assertion criteria ARID5B-related disorder
Uncertain significance 121
- p.Ala1008Val Single submitter ⚠
- p.Ala1009Val Single submitter ⚠
- p.Ala1030Val Single submitter ⚠
- p.Ala1057Val Single submitter ⚠
- p.Ala290Thr Single submitter ⚠
- p.Ala569Val Single submitter ⚠
- p.Ala745Val Single submitter ⚠
- p.Ala899Asp Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg1010Gln Single submitter ⚠
- p.Arg262Gly Single submitter ⚠
- p.Arg335Ser Single submitter ⚠
- p.Arg372His Single submitter ⚠
- p.Arg780Gln Single submitter ⚠
- p.Arg780Gly Single submitter ⚠
- p.Arg785His Single submitter ⚠
- p.Asn1160Asp Single submitter ⚠
- p.Asn274Ser Single submitter ⚠
- p.Asn434fs Single submitter Global developmental delay
- p.Asp227Ala Single submitter ⚠
- p.Asp521Glu Single submitter ⚠
- p.Asp552His Single submitter ⚠
- p.Asp613Asn Single submitter ⚠
- p.Asp637Tyr Single submitter ⚠
- p.Asp726Glu Single submitter ⚠
- p.Asp742Glu Single submitter ⚠
- p.Asp89Glu Single submitter ⚠
- p.Cys258Gly Single submitter ⚠
- p.Cys317Arg Single submitter ⚠
- p.Cys46fs Single submitter
- p.Cys46Tyr Single submitter ARID5B-related disorder ⚠
- p.Gln1109His Single submitter ⚠
- p.Gln602Lys Single submitter ⚠
- p.Gln939His Single submitter ⚠
- p.Glu1052Lys Single submitter ⚠
- p.Glu163Gln Single submitter ⚠
- p.Glu243Gly Single submitter ⚠
- p.Glu426fs Single submitter
- p.Glu519Lys Single submitter ⚠
- p.Gly1007Ala Single submitter ⚠
- p.Gly1068Val Single submitter ⚠
- p.Gly1129fs Single submitter
- p.Gly154Arg Single submitter ⚠
- p.Gly212Ser Single submitter
- p.Gly277Asp Single submitter ⚠
- p.Gly277Val Single submitter ⚠
- p.Gly440Ala Single submitter ⚠
- p.Gly499Glu Single submitter ⚠
- p.Gly537Arg Single submitter ⚠
- p.Gly664Glu Single submitter ⚠
- p.His1069Gln Single submitter ⚠
- p.His114Arg Single submitter ⚠
- p.His114Gln Single submitter ⚠
- p.His1159Arg Single submitter ⚠
- p.His775Gln Single submitter ⚠
- p.His821Asn Single submitter ⚠
- p.His821Asp Single submitter ⚠
- p.His873Tyr Single submitter ⚠
- p.His980Gln Single submitter ⚠
- p.Ile1006Val Single submitter ⚠
- p.Ile313Leu Single submitter ⚠
- p.Ile444Val Single submitter ⚠
- p.Ile448Thr Single submitter ⚠
- p.Ile484Phe Single submitter ⚠
- p.Ile497Thr Single submitter ⚠
- p.Leu1073Phe Single submitter ⚠
- p.Leu1091Phe Single submitter ⚠
- p.Leu161Ile Single submitter ⚠
- p.Leu542Ile Single submitter ⚠
- p.Leu542Pro Single submitter ⚠
- p.Leu555Phe Single submitter ⚠
- p.Leu78His Single submitter ⚠
- p.Leu796Phe Single submitter ⚠
- p.Leu879Phe Single submitter ⚠
- p.Lys1026Glu Single submitter ⚠
- p.Lys145Arg Single submitter ⚠
- p.Lys453fs Single submitter
- p.Lys551Ile Single submitter ⚠
- p.Lys578Ile Single submitter ⚠
- p.Lys629Thr Single submitter ⚠
- p.Lys855Glu Single submitter ⚠
- p.Lys966Glu Single submitter ⚠
- p.Met1126Ile Single submitter ⚠
- p.Met332Ile Single submitter ⚠
- p.Met619Ile Single submitter ⚠
- p.Met619Thr Single submitter ⚠
- p.Met744Thr Single submitter ⚠
- p.Met824Thr Single submitter ⚠
- p.Met861Val Single submitter ⚠
- p.Phe788Ile Single submitter ⚠
- p.Pro1134Leu Single submitter ⚠
- p.Pro1170Thr Single submitter
- p.Pro12Gln Single submitter ⚠
- p.Pro220Ser Single submitter ⚠
- p.Pro232Leu Single submitter
- p.Pro590Ser Single submitter ⚠
- p.Pro604Leu Single submitter ⚠
- p.Pro715Ala Single submitter ⚠
- p.Pro715Thr Single submitter ⚠
- p.Ser1085Asn Single submitter ⚠
- p.Ser1093Phe Single submitter ⚠
- p.Ser1137Cys Single submitter ⚠
- p.Ser266Gly Single submitter ⚠
- p.Ser428Arg Single submitter ⚠
- p.Ser451Asn Single submitter ⚠
- p.Ser588Arg Single submitter ⚠
- p.Ser703Gly Single submitter ⚠
- p.Thr47Lys Single submitter ⚠
- p.Thr583Ile Single submitter ⚠
- p.Thr645Ser Single submitter ⚠
- p.Thr675Met Single submitter ⚠
- p.Thr901Ala Single submitter ⚠
- p.Tyr832His Single submitter
- p.Val1040Ile Single submitter ⚠
- p.Val113Leu Single submitter ⚠
- p.Val176Leu Single submitter ⚠
- p.Val215Met Single submitter ⚠
- p.Val755Ile Single submitter ⚠
- p.Arg335Thr No assertion criteria ARID5B-related disorder ⚠
- p.Leu1095His No assertion criteria ARID5B-related disorder ⚠
- p.Thr441Asn No assertion criteria ARID5B-related disorder ⚠