RHEB — 29 ClinVar variants
All ClinVar germline RHEB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
5 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 1 Benign · 1 Likely benign · 19 Uncertain significance
Full RHEB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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RHEB p.Ile24Thr
Conflicting
Single submitter
intellectual disability
Predictors lean, ClinVar uncertain 14
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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RHEB p.Ser16Phe
Uncertain significance
Multiple submitters
Seizure
- RHEB p.Gln154Glu Uncertain significance Single submitter
- RHEB p.Gly63Arg Uncertain significance Single submitter
- RHEB p.Ile163Val Uncertain significance Single submitter
- RHEB p.Leu46Trp Uncertain significance Single submitter
- RHEB p.Lys120Arg Uncertain significance Single submitter
- RHEB p.Met115Ile Uncertain significance Single submitter
- RHEB p.Met115Leu Uncertain significance Single submitter
- RHEB p.Pro2Leu Uncertain significance Single submitter
- RHEB p.Pro2Ser Uncertain significance Single submitter
- RHEB p.Pro71Leu Uncertain significance Single submitter
- RHEB p.Ser130Thr Uncertain significance Single submitter
- RHEB p.Ser34Pro Uncertain significance Single submitter
- RHEB p.Thr23Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All RHEB variants
Pathogenic 5
- p.Tyr35Leu Multiple submitters isolated focal cortical dysplasia type IIb
- p.Pro37Leu Single submitter
- p.Ser68Pro Single submitter
- p.Tyr35Cys Single submitter
- p.Tyr35Ser Single submitter
Likely pathogenic 2
- p.Glu40Val Single submitter hemimegalencephaly
- p.Tyr35Asp Single submitter RHEB-related disorder
Conflicting classifications of pathogenicity 1
- p.Ile24Thr Single submitter intellectual disability ⚠
Benign 1
- c.333-7C>T Multiple submitters
Likely benign 1
- p.Val49= Single submitter
Uncertain significance 19
- p.Ser16Phe Multiple submitters Seizure ⚠
- c.462+3A>G Single submitter
- p.Gln154Glu Single submitter ⚠
- p.Gly63Arg Single submitter ⚠
- p.Ile163Val Single submitter ⚠
- p.Ile69Thr Single submitter ⚠
- p.Leu104Ser Single submitter ⚠
- p.Leu137Val Single submitter ⚠
- p.Leu46Trp Single submitter ⚠
- p.Lys120Arg Single submitter ⚠
- p.Met115Ile Single submitter ⚠
- p.Met115Leu Single submitter ⚠
- p.Pro2Leu Single submitter ⚠
- p.Pro2Ser Single submitter ⚠
- p.Pro71Leu Single submitter ⚠
- p.Ser130Thr Single submitter ⚠
- p.Ser34Pro Single submitter ⚠
- p.Thr23Met Single submitter ⚠
- p.Val17fs Single submitter