| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (frameshift variant +1 more) | ATXN3-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe insertion +2 more) | ATXN3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ATXN3-related disorder | |
| | | Duplication (inframe insertion +2 more) | ATXN3-related disorder | |
| | ATXN3, LOC108663987 (Q119fs +11 more) | Insertion (frameshift variant +1 more) | ATXN3-related disorder | |
| | ATXN3, LOC108663987 (T70A +4 more) | Single nucleotide variant (synonymous variant +2 more) | not specified +2 more | |
| | LOC108663987, ATXN3 (K295Q +11 more) | Single nucleotide variant (missense variant +1 more) | ATXN3-related disorder +1 more | |
| | ATXN3, LOC108663987 (K67E +4 more) | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | ATXN3-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | ATXN3-related disorder | |
| | | Single nucleotide variant (synonymous variant +3 more) | ATXN3-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | ATXN3-related disorder | |
Click to view in NCBI Gene