ATXN3 — 67 ClinVar variants
All ClinVar germline ATXN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
11 Benign · 11 Likely benign · 45 Uncertain significance
Full ATXN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ATXN3 p.Ala215Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Ala215Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Arg262Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Arg282Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Arg282Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Cys316Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Cys316Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Cys316Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Gln129Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Glu158Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Glu224Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Glu358Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ATXN3 p.His119Gln Uncertain significance Single submitter
-
ATXN3 p.His6Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Ile107Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Ile192Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Leu177Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Met242Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Met69Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Phe289Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Ser66Phe
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 16
The independent predictors disagree with each other — read with care.
-
ATXN3 p.Arg237His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Arg250Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Arg285Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Arg59Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Asp267Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Asp354Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Gln185His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Gln305Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Glu195Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Glu224Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Leu93Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Met334Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Pro97Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Ser261Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Ser261Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN3 p.Thr138Met
Uncertain significance
Single submitter
Inborn genetic diseases
All ATXN3 variants
Benign 11
- p.Gln294= Multiple submitters
- p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGln Multiple submitters
- p.Lys295Gln Multiple submitters
- p.Gln302_Gln305dup Single submitter Machado-Joseph disease
- p.Gln305_Gly306insGlnGlnGlnGlnGln Single submitter
- p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Single submitter
- p.Gly306Arg Single submitter Machado-Joseph disease
- p.Val164= Single submitter
- p.Val212Met Single submitter
- p.Gln298fs No assertion criteria ATXN3-related disorder
- p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln No assertion criteria Machado-Joseph disease
Likely benign 11
- p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Multiple submitters
- c.991+86T>C Single submitter
- p.Gln302fs Single submitter
- p.Gln304fs Single submitter
- p.Gln305_Gly306insGln Single submitter
- p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGln Single submitter
- p.Gln305_Gly306insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Single submitter
- p.Gln305fs Single submitter
- p.Gly306= Single submitter Inborn genetic diseases
- p.Glu214= No assertion criteria ATXN3-related disorder
- p.Thr60Met No assertion criteria ATXN3-related disorder
Uncertain significance 45
- p.Gly306delinsGluGlnArg Multiple submitters
- p.Lys295del Multiple submitters
- c.776-3C>T Single submitter Tip-toe gait
- p.? Single submitter
- p.Ala215Pro Single submitter Inborn genetic diseases ⚠
- p.Ala215Val Single submitter Inborn genetic diseases ⚠
- p.Arg237His Single submitter Inborn genetic diseases ⚠
- p.Arg250Cys Single submitter Inborn genetic diseases ⚠
- p.Arg262Ser Single submitter Inborn genetic diseases ⚠
- p.Arg282Gln Single submitter Inborn genetic diseases ⚠
- p.Arg282Trp Single submitter Inborn genetic diseases ⚠
- p.Arg285Gln Single submitter Inborn genetic diseases ⚠
- p.Arg59Cys Single submitter Inborn genetic diseases ⚠
- p.Asp267Val Single submitter Inborn genetic diseases ⚠
- p.Asp354Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys316Arg Single submitter Inborn genetic diseases ⚠
- p.Cys316Trp Single submitter Inborn genetic diseases ⚠
- p.Cys316Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln129Lys Single submitter Inborn genetic diseases ⚠
- p.Gln185His Single submitter Inborn genetic diseases ⚠
- p.Gln292fs Single submitter Machado-Joseph disease
- p.Gln303_Gln305dup Single submitter
- p.Gln305Pro Single submitter Inborn genetic diseases ⚠
- p.Glu158Lys Single submitter Inborn genetic diseases ⚠
- p.Glu195Lys Single submitter Inborn genetic diseases ⚠
- p.Glu224Asp Single submitter Inborn genetic diseases ⚠
- p.Glu224Lys Single submitter Inborn genetic diseases ⚠
- p.Glu358Gly Single submitter Inborn genetic diseases ⚠
- p.Gly306delinsGlnGlnGlnGlnGlnGlnArg Single submitter
- p.His119Gln Single submitter ⚠
- p.His6Pro Single submitter Inborn genetic diseases ⚠
- p.Ile107Val Single submitter Inborn genetic diseases ⚠
- p.Ile192Val Single submitter Inborn genetic diseases ⚠
- p.Leu177Ile Single submitter Inborn genetic diseases ⚠
- p.Leu93Met Single submitter Inborn genetic diseases ⚠
- p.Met242Val Single submitter Inborn genetic diseases ⚠
- p.Met334Val Single submitter Inborn genetic diseases ⚠
- p.Met69Thr Single submitter Inborn genetic diseases ⚠
- p.Phe289Ser Single submitter Inborn genetic diseases ⚠
- p.Pro97Arg Single submitter Inborn genetic diseases ⚠
- p.Ser261Cys Single submitter Inborn genetic diseases ⚠
- p.Ser261Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser66Phe Single submitter Inborn genetic diseases ⚠
- p.Thr138Met Single submitter Inborn genetic diseases ⚠
- p.Gly306fs No assertion criteria