RAB7A — 179 ClinVar variants
All ClinVar germline RAB7A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
3 Pathogenic · 7 Conflicting · 24 Benign · 5 Benign/Likely benign · 71 Likely benign · 69 Uncertain significance
Full RAB7A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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RAB7A p.Ala156Thr
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Asn161Asp
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Asn161Thr
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Lys157Asn
Conflicting
No assertion criteria
Charcot-Marie-Tooth disease type 2B
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RAB7A p.Arg69Gln
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Ile169Thr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Leu56Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAB7A p.Ser155Asn
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Ala135Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Ala139Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB7A p.Ala141Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Ala156Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Ala156Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Ala170Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Arg138Trp
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
- RAB7A p.Asn131Asp Uncertain significance Single submitter
-
RAB7A p.Asn30Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Asp104Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
- RAB7A p.Cys83Ser Uncertain significance Single submitter
-
RAB7A p.Gln60Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Glu163Asp
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Leu174Phe
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Leu182Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Leu86Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB7A p.Lys126Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Met25Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Met51Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Met51Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Phe152Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Pro150Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Pro93Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Val50Met
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
Predictors split 4
The independent predictors disagree with each other — read with care.
-
RAB7A p.Asn161Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Ser111Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease
-
RAB7A p.Ser145Asn
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 2B
-
RAB7A p.Thr168Met
Conflicting
Single submitter
Inborn genetic diseases
All RAB7A variants
Pathogenic 3
- p.Asn161Ile Multiple submitters RAB7A-related disorder
- p.Leu129Phe Multiple submitters Charcot-Marie-Tooth disease type 2B
- p.Val162Met Multiple submitters Charcot-Marie-Tooth disease type 2B
Conflicting classifications of pathogenicity 7
- c.-18A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*183A>G Single submitter Charcot-Marie-Tooth disease type 2B
- p.Ala156Thr Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Asn161Asp Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Asn161Thr Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Thr168Met Single submitter Inborn genetic diseases ⚠
- p.Lys157Asn No assertion criteria Charcot-Marie-Tooth disease type 2B ⚠
Benign 24
- c.400-179A>G Multiple submitters
- c.-29G>T Multiple submitters Charcot-Marie-Tooth disease type 2B
- c.-8-142T>G Multiple submitters
- c.*163T>G Multiple submitters Charcot-Marie-Tooth disease type 2B
- c.*189A>G Multiple submitters Charcot-Marie-Tooth disease type 2B
- c.*206G>A Multiple submitters Charcot-Marie-Tooth disease type 2B
- c.*863C>G Multiple submitters Charcot-Marie-Tooth disease type 2B
- c.*997T>C Multiple submitters Charcot-Marie-Tooth disease type 2B
- p.Leu73= Multiple submitters Charcot-Marie-Tooth disease
- c.181-12del Single submitter Charcot-Marie-Tooth disease type 2B
- c.181-270C>T Single submitter
- c.399+276C>T Single submitter
- c.529-2154C>G Single submitter
- c.54-334A>G Single submitter
- c.-115C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.-209_-204dup Single submitter
- c.-215C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.-70CTC[2] Single submitter
- c.-8-280A>G Single submitter
- c.*1374G>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.*181_*194del Single submitter
- c.*229C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.*625T>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.*846A>G Single submitter Charcot-Marie-Tooth disease type 2B
Benign/Likely benign 5
- c.-97C>G Multiple submitters Charcot-Marie-Tooth disease type 2B
- p.Ala141= Multiple submitters Inborn genetic diseases
- p.Ala165= Multiple submitters Charcot-Marie-Tooth disease type 2B
- p.Gln71= Multiple submitters Charcot-Marie-Tooth disease type 2B
- p.Val29= Multiple submitters Inborn genetic diseases
Likely benign 71
- c.180+242A>C Multiple submitters
- c.180+9A>G Multiple submitters Charcot-Marie-Tooth disease type 2B
- c.400-17C>G Multiple submitters Charcot-Marie-Tooth disease type 2B
- c.529-11T>G Multiple submitters Charcot-Marie-Tooth disease type 2B
- c.53+75G>A Multiple submitters
- c.54-17T>C Multiple submitters Charcot-Marie-Tooth disease type 2B
- p.Arg138= Multiple submitters Inborn genetic diseases
- p.Ile61= Multiple submitters Inborn genetic diseases
- p.Leu107= Multiple submitters Inborn genetic diseases
- p.Phe33= Multiple submitters Charcot-Marie-Tooth disease type 2B
- p.Val7= Multiple submitters Inborn genetic diseases
- c.180+7A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.181-4A>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.181-9C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.399+11A>T Single submitter
- c.399+12C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.399+14A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.399+16G>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.399+17A>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.399+19A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.400-10C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.400-11T>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.400-13CTT[2] Single submitter Charcot-Marie-Tooth disease type 2B
- c.400-15T>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.400-15T>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.400-16C>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.400-48C>G Single submitter
- c.400-49G>T Single submitter
- c.400-6T>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.528+20C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.528+9C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.529-187T>A Single submitter
- c.529-2097A>G Single submitter
- c.529-249T>C Single submitter
- c.53+12A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.53+14G>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.53+233T>C Single submitter
- c.53+7T>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.53+9C>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.53+9dup Single submitter Charcot-Marie-Tooth disease type 2B
- c.54-207C>T Single submitter
- c.54-20T>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.54-9C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.-6T>C Single submitter
- c.-8-12T>C Single submitter
- c.-9+220G>T Single submitter
- c.-9+28G>T Single submitter
- c.*1026G>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.*1141C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.*165AC[7] Single submitter
- c.*165AC[9] Single submitter
- c.*182CA[9] Single submitter
- p.Ala76= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Arg69= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Asn125= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Asp100= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Cys83= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Cys84= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Leu46= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Lys6= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Pro119= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Thr168= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Thr2= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Thr40= Single submitter
- p.Thr58= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Thr98= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Tyr28= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Val122= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Val19= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Val50= Single submitter Charcot-Marie-Tooth disease type 2B
- p.Val57= Single submitter
Uncertain significance 69
- c.*181G>A Multiple submitters Charcot-Marie-Tooth disease type 2B
- p.Arg69Gln Multiple submitters Charcot-Marie-Tooth disease type 2B ⚠
- p.Ile169Thr Multiple submitters Charcot-Marie-Tooth disease type 2B ⚠
- p.Leu56Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser155Asn Multiple submitters Charcot-Marie-Tooth disease type 2B ⚠
- c.180+4A>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.180+5G>A Single submitter
- c.181-3C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.528+2dup Single submitter Charcot-Marie-Tooth disease type 2B
- c.54-15T>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.-146G>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.-154G>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.-204G>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.-61G>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.*1029A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*1079C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.*1142G>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.*1161C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.*1219C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.*1301A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*1343C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.*1344G>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.*165A>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.*274G>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.*317A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*402T>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.*473G>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.*700C>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.*702T>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*819C>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.*831A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*85A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*908A>C Single submitter Charcot-Marie-Tooth disease type 2B
- c.*922A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*929A>T Single submitter Charcot-Marie-Tooth disease type 2B
- c.*956G>A Single submitter Charcot-Marie-Tooth disease type 2B
- c.*974A>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*989C>G Single submitter Charcot-Marie-Tooth disease type 2B
- c.*997T>G Single submitter Charcot-Marie-Tooth disease type 2B
- p.Ala135Thr Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Ala139Thr Single submitter Inborn genetic diseases ⚠
- p.Ala141Thr Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Ala156Gly Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Ala156Val Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Ala170Thr Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Arg138Trp Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Asn117Lys Single submitter Charcot-Marie-Tooth disease type 2B
- p.Asn131Asp Single submitter ⚠
- p.Asn161Ser Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Asn30Ser Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Asp104Gly Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Cys83Ser Single submitter ⚠
- p.Gln60Arg Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Glu163Asp Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Leu174Phe Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Leu182Val Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Leu86Pro Single submitter Inborn genetic diseases ⚠
- p.Lys126Arg Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Met25Thr Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Met51Thr Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Met51Val Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Phe152Leu Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Pro150Thr Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Pro93Ser Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Ser111Gly Single submitter Charcot-Marie-Tooth disease ⚠
- p.Ser145Asn Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Val50Met Single submitter Charcot-Marie-Tooth disease type 2B ⚠
- p.Gln27fs No assertion criteria Hereditary sodium channelopathy-related small fibers neuropathy
- p.Ser111fs No assertion criteria Charcot-Marie-Tooth disease