ADRA2B — 77 ClinVar variants
All ClinVar germline ADRA2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Likely pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 18 Likely benign · 52 Uncertain significance
Full ADRA2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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ADRA2B p.Glu217Lys
Uncertain significance
Multiple submitters
epilepsy, familial adult myoclonic, 2
- ADRA2B p.Lys210Glu Uncertain significance Multiple submitters
- ADRA2B p.Phe68Ile Uncertain significance Multiple submitters
- ADRA2B p.Ala14Ser Uncertain significance Single submitter
- ADRA2B p.Ala232Gly Uncertain significance Single submitter
- ADRA2B p.Arg127Ser Uncertain significance Single submitter
- ADRA2B p.Arg128Ser Uncertain significance Single submitter
- ADRA2B p.Arg244Ile Uncertain significance Single submitter
- ADRA2B p.Arg360Gln Uncertain significance Single submitter
- ADRA2B p.Arg365Trp Uncertain significance Single submitter
- ADRA2B p.Arg368Cys Uncertain significance Single submitter
- ADRA2B p.Arg81Gln Uncertain significance Single submitter
- ADRA2B p.Arg81Pro Uncertain significance Single submitter
- ADRA2B p.Asn279Ser Uncertain significance Single submitter
- ADRA2B p.Asp153Tyr Uncertain significance Single submitter
- ADRA2B p.Asp2Asn Uncertain significance Single submitter
-
ADRA2B p.Asp92Asn
Uncertain significance
Single submitter
epilepsy, familial adult myoclonic, 2
- ADRA2B p.Asp92Glu Uncertain significance Single submitter
- ADRA2B p.Cys164Arg Uncertain significance Single submitter
- ADRA2B p.Gly212Ala Uncertain significance Single submitter
- ADRA2B p.Gly212Val Uncertain significance Single submitter
- ADRA2B p.Gly226Val Uncertain significance Single submitter
- ADRA2B p.Gly353Asp Uncertain significance Single submitter
- ADRA2B p.Ile187Phe Uncertain significance Single submitter
- ADRA2B p.Ile27Val Uncertain significance Single submitter
- ADRA2B p.Leu145Pro Uncertain significance Single submitter
- ADRA2B p.Leu190Phe Uncertain significance Single submitter
- ADRA2B p.Leu193Arg Uncertain significance Single submitter
- ADRA2B p.Leu94Val Uncertain significance Single submitter
- ADRA2B p.Lys210Met Uncertain significance Single submitter
- ADRA2B p.Lys219Glu Uncertain significance Single submitter
- ADRA2B p.Pro221Ser Uncertain significance Single submitter
- ADRA2B p.Pro6Thr Uncertain significance Single submitter
- ADRA2B p.Ser292Pro Uncertain significance Single submitter
- ADRA2B p.Ser53Leu Uncertain significance Single submitter
- ADRA2B p.Trp112Arg Uncertain significance Single submitter
- ADRA2B p.Trp171Cys Uncertain significance Single submitter
- ADRA2B p.Val240Met Uncertain significance Single submitter
- ADRA2B p.Val315Leu Uncertain significance Single submitter
- ADRA2B p.Val376Gly Uncertain significance Single submitter
- ADRA2B p.Ile396Val Uncertain significance No assertion criteria
Predictors split 1
The independent predictors disagree with each other — read with care.
All ADRA2B variants
Likely pathogenic 1
- p.Thr39Ile No assertion criteria
Conflicting classifications of pathogenicity 1
- p.Arg222Ter Single submitter epilepsy, familial adult myoclonic, 2
Benign 4
- p.Glu309_Cys310insGluGluGlu Single submitter ADRA2B-related disorder
- p.Ile189= Single submitter
- p.Ser40= Single submitter
- p.Thr12= No assertion criteria ADRA2B-related disorder
Benign/Likely benign 1
- p.Glu307_Glu309del Multiple submitters
Likely benign 18
- p.Asn422= Multiple submitters
- p.Val315Met Multiple submitters
- p.Val379Ile Multiple submitters
- p.Arg81Trp Single submitter
- p.Gln431= Single submitter
- p.Glu308_Glu309dup Single submitter
- p.Glu309_Cys310insGluGlu Single submitter
- p.Ile19= Single submitter
- p.Ile414= Single submitter
- p.Leu49= Single submitter
- p.Phe411= Single submitter ADRA2B-related disorder
- p.Pro444= Single submitter
- p.Ser250= Single submitter
- p.Val376Ile Single submitter ADRA2B-related disorder
- c.*2C>A No assertion criteria ADRA2B-related disorder
- p.Arg161= No assertion criteria ADRA2B-related disorder
- p.Thr261= No assertion criteria ADRA2B-related disorder
- p.Tyr7= No assertion criteria ADRA2B-related disorder
Uncertain significance 52
- p.Glu217Lys Multiple submitters epilepsy, familial adult myoclonic, 2 ⚠
- p.Lys210Glu Multiple submitters ⚠
- p.Phe68Ile Multiple submitters ⚠
- p.Ala105Val Single submitter
- p.Ala14Ser Single submitter ⚠
- p.Ala232Gly Single submitter ⚠
- p.Arg127Ser Single submitter ⚠
- p.Arg128Cys Single submitter
- p.Arg128Ser Single submitter ⚠
- p.Arg208fs Single submitter
- p.Arg244Ile Single submitter ⚠
- p.Arg360Gln Single submitter ⚠
- p.Arg365Trp Single submitter ⚠
- p.Arg368Cys Single submitter ⚠
- p.Arg81Gln Single submitter ⚠
- p.Arg81Pro Single submitter ⚠
- p.Asn279Ser Single submitter ⚠
- p.Asn72Tyr Single submitter
- p.Asp153Tyr Single submitter ⚠
- p.Asp2Asn Single submitter ⚠
- p.Asp92Asn Single submitter epilepsy, familial adult myoclonic, 2 ⚠
- p.Asp92Glu Single submitter ⚠
- p.Cys164Arg Single submitter ⚠
- p.Glu299_Glu300insGlyGluGlu Single submitter epilepsy, familial adult myoclonic, 2
- p.Gly212Ala Single submitter ⚠
- p.Gly212Val Single submitter ⚠
- p.Gly226Val Single submitter ⚠
- p.Gly353Asp Single submitter ⚠
- p.Ile187Phe Single submitter ⚠
- p.Ile27Val Single submitter ⚠
- p.Leu145Pro Single submitter ⚠
- p.Leu190Phe Single submitter ⚠
- p.Leu193Arg Single submitter ⚠
- p.Leu94Val Single submitter ⚠
- p.Lys210Met Single submitter ⚠
- p.Lys219Glu Single submitter ⚠
- p.Met1Arg Single submitter
- p.Pro213fs Single submitter
- p.Pro221Ser Single submitter ⚠
- p.Pro6Thr Single submitter ⚠
- p.Ser292Pro Single submitter ⚠
- p.Ser53Leu Single submitter ⚠
- p.Ser8Phe Single submitter
- p.Ser98Ter Single submitter
- p.Trp112Arg Single submitter ⚠
- p.Trp171Cys Single submitter ⚠
- p.Val240Met Single submitter ⚠
- p.Val315Leu Single submitter ⚠
- p.Val376Gly Single submitter ⚠
- p.Val37Leu Single submitter ⚠
- p.His225_Leu229delinsGlnPheGlyArg No assertion criteria epilepsy, familial adult myoclonic, 2
- p.Ile396Val No assertion criteria ⚠