RAB39B — 102 ClinVar variants
All ClinVar germline RAB39B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
7 Pathogenic · 4 Likely pathogenic · 4 Conflicting · 10 Benign · 4 Benign/Likely benign · 14 Likely benign · 59 Uncertain significance
Full RAB39B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 31
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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RAB39B p.Gly178Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAB39B p.Ser96Phe
Uncertain significance
Multiple submitters
intellectual disability, X-linked 72
-
RAB39B p.Thr129Ile
Uncertain significance
Multiple submitters
intellectual disability, X-linked 72
-
RAB39B p.Ala143Gly
Uncertain significance
Single submitter
Parkinson disease, X-linked dominant
- RAB39B p.Arg10Trp Uncertain significance Single submitter
- RAB39B p.Arg155Gln Uncertain significance Single submitter
- RAB39B p.Arg177Lys Uncertain significance Single submitter
- RAB39B p.Asp156Gly Uncertain significance Single submitter
- RAB39B p.Asp16Asn Uncertain significance Single submitter
- RAB39B p.Glu102Lys Uncertain significance Single submitter
- RAB39B p.Glu105Lys Uncertain significance Single submitter
- RAB39B p.Glu30Asp Uncertain significance Single submitter
-
RAB39B p.Gly15Arg
Uncertain significance
Single submitter
intellectual disability, X-linked 72
-
RAB39B p.Gly67Cys
Uncertain significance
Single submitter
intellectual disability, X-linked 72
- RAB39B p.His136Asp Uncertain significance Single submitter
-
RAB39B p.Ile171Val
Uncertain significance
Single submitter
intellectual disability, X-linked 72
- RAB39B p.Ile58Met Uncertain significance Single submitter
- RAB39B p.Ile58Phe Uncertain significance Single submitter
- RAB39B p.Leu141Val Uncertain significance Single submitter
- RAB39B p.Lys21Met Uncertain significance Single submitter
- RAB39B p.Lys59Asn Uncertain significance Single submitter
- RAB39B p.Phe89Cys Uncertain significance Single submitter
-
RAB39B p.Ser153Pro
Uncertain significance
Single submitter
early-onset parkinsonism-intellectual disability syndrome
- RAB39B p.Ser191Gly Uncertain significance Single submitter
-
RAB39B p.Ser22Ala
Uncertain significance
Single submitter
intellectual disability, X-linked 72
-
RAB39B p.Thr134Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RAB39B p.Thr152Met Uncertain significance Single submitter
- RAB39B p.Tyr172Asp Uncertain significance Single submitter
-
RAB39B p.Tyr79His
Uncertain significance
Single submitter
Inborn genetic diseases
- RAB39B p.Val119Leu Uncertain significance Single submitter
- RAB39B p.Val121Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- RAB39B p.Arg94Cys Uncertain significance Single submitter
- RAB39B p.Arg94His Uncertain significance Single submitter
-
RAB39B p.Glu105Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB39B p.Glu184Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- RAB39B p.Gly146Ser Uncertain significance Single submitter
-
RAB39B p.Gly192Arg
Pathogenic
Single submitter
Parkinson disease, X-linked dominant
- RAB39B p.Phe9Leu Uncertain significance Single submitter
- RAB39B p.Ser47Thr Uncertain significance Single submitter
All RAB39B variants
Pathogenic 7
- p.Glu187Ter Single submitter intellectual disability, X-linked 72
- p.Gly192Arg Single submitter Parkinson disease, X-linked dominant ⚠
- p.Ser47fs Single submitter intellectual disability, X-linked 72
- p.Thr168Lys Single submitter early-onset parkinsonism-intellectual disability syndrome
- p.Trp63Ter Single submitter
- c.215+1G>A No assertion criteria intellectual disability, X-linked 72
- p.Tyr7Ter No assertion criteria intellectual disability, X-linked 72
Likely pathogenic 4
- p.Ala144del Single submitter intellectual disability, X-linked 72
- p.Glu187fs Single submitter Developmental disorder
- p.Gly188_Val189insTer Single submitter
- p.Trp63Cys Single submitter neurodevelopmental disorder
Conflicting classifications of pathogenicity 4
- c.215+3G>A Single submitter Inborn genetic diseases
- c.*1452T>C Single submitter intellectual disability, X-linked 72
- c.*339T>C Single submitter intellectual disability, X-linked 72
- p.Val117Ala Single submitter
Benign 10
- c.*1347C>T Multiple submitters intellectual disability, X-linked 72
- c.*1656= Multiple submitters intellectual disability, X-linked 72
- c.215+253= Single submitter
- c.*1006A>G Single submitter intellectual disability, X-linked 72
- c.*1040C>T Single submitter intellectual disability, X-linked 72
- c.*1079A>C Single submitter intellectual disability, X-linked 72
- c.*1580C>G Single submitter intellectual disability, X-linked 72
- c.*1813C>A Single submitter intellectual disability, X-linked 72
- c.*1945A>T Single submitter intellectual disability, X-linked 72
- c.*282G>T Single submitter intellectual disability, X-linked 72
Benign/Likely benign 4
Likely benign 14
- c.215+10C>G Single submitter
- c.215+13T>A Single submitter
- c.215+19C>T Single submitter
- c.215+9G>T Single submitter
- c.216-128dup Single submitter
- p.Ala138= Single submitter
- p.Arg177Ser Single submitter
- p.Arg32= Single submitter Inborn genetic diseases
- p.Asn159= Single submitter
- p.Asp90= Single submitter
- p.Leu86= Single submitter
- p.Pro195= Single submitter
- p.Val41= Single submitter
- p.Val83= Single submitter
Uncertain significance 59
- p.Gly178Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser96Phe Multiple submitters intellectual disability, X-linked 72 ⚠
- p.Thr129Ile Multiple submitters intellectual disability, X-linked 72 ⚠
- c.-62C>A Single submitter intellectual disability, X-linked 72
- c.*1428T>G Single submitter intellectual disability, X-linked 72
- c.*1728A>G Single submitter intellectual disability, X-linked 72
- c.*1935G>A Single submitter intellectual disability, X-linked 72
- c.*2100C>T Single submitter intellectual disability, X-linked 72
- c.*2366G>A Single submitter intellectual disability, X-linked 72
- c.*2551T>C Single submitter intellectual disability, X-linked 72
- c.*428C>T Single submitter intellectual disability, X-linked 72
- c.*485T>G Single submitter intellectual disability, X-linked 72
- c.*588A>G Single submitter intellectual disability, X-linked 72
- c.*65A>G Single submitter intellectual disability, X-linked 72
- p.Ala143Gly Single submitter Parkinson disease, X-linked dominant ⚠
- p.Arg10Trp Single submitter ⚠
- p.Arg135fs Single submitter early-onset parkinsonism-intellectual disability syndrome
- p.Arg155Gln Single submitter ⚠
- p.Arg177Lys Single submitter ⚠
- p.Arg210del Single submitter Parkinson disease, X-linked dominant
- p.Arg94Cys Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asp156Gly Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Gln183Pro Single submitter
- p.Glu102Lys Single submitter ⚠
- p.Glu105Gly Single submitter Inborn genetic diseases ⚠
- p.Glu105Lys Single submitter ⚠
- p.Glu179fs Single submitter
- p.Glu184Gly Single submitter Inborn genetic diseases ⚠
- p.Glu30Asp Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly15Arg Single submitter intellectual disability, X-linked 72 ⚠
- p.Gly67Cys Single submitter intellectual disability, X-linked 72 ⚠
- p.His136Asp Single submitter ⚠
- p.Ile171Val Single submitter intellectual disability, X-linked 72 ⚠
- p.Ile58_Lys59delinsMet Single submitter
- p.Ile58Met Single submitter ⚠
- p.Ile58Phe Single submitter ⚠
- p.Ile91= Single submitter intellectual disability, X-linked 72
- p.Leu141Val Single submitter ⚠
- p.Lys21Met Single submitter ⚠
- p.Lys59Asn Single submitter ⚠
- p.Met147Val Single submitter Inborn genetic diseases
- p.Phe164= Single submitter
- p.Phe89Cys Single submitter ⚠
- p.Phe9Leu Single submitter ⚠
- p.Ser153Pro Single submitter early-onset parkinsonism-intellectual disability syndrome ⚠
- p.Ser191Gly Single submitter ⚠
- p.Ser201Leu Single submitter
- p.Ser22Ala Single submitter intellectual disability, X-linked 72 ⚠
- p.Ser47Thr Single submitter ⚠
- p.Thr134Ile Single submitter Inborn genetic diseases ⚠
- p.Thr152Met Single submitter ⚠
- p.Tyr172Asp Single submitter ⚠
- p.Tyr79His Single submitter Inborn genetic diseases ⚠
- p.Val117Leu Single submitter intellectual disability, X-linked 72
- p.Val119Leu Single submitter ⚠
- p.Val121Met Single submitter ⚠