| | LOC126861920, LOC126861921 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Insertion (inframe_insertion +2 more) | not provided | |
| | | Insertion (inframe_indel +2 more) | not provided | |
| | | Insertion (frameshift variant +1 more) | not provided | |
| | | Insertion (frameshift variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe insertion +2 more) | ATXN3-related condition | |
| | | Microsatellite (inframe_insertion +2 more) | not provided | |
| | | Microsatellite (inframe_insertion +2 more) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | | Indel (inframe_indel +1 more) | not provided | |
| | ATXN3, LOC108663987 (G127fs +11 more) | Insertion (frameshift variant +1 more) | not specified | |
| | ATXN3, LOC108663987 (G127fs +11 more) | Insertion (frameshift variant +1 more) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | ATXN3, LOC108663987 (G127fs +11 more) | Insertion (frameshift variant +1 more) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | Azorean disease | |
| | | Microsatellite (inframe_insertion +1 more) | not specified | |
| | | Microsatellite (inframe_insertion +1 more) | not specified | |
| | | Indel | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | ATXN3-related condition | |
| | | Microsatellite | Parkinson disease, late-onset +1 more | |
| | | Duplication (inframe insertion +2 more) | ATXN3-related condition | |
| | ATXN3, LOC108663987 (Q119fs +11 more) | Insertion (frameshift variant +1 more) | ATXN3-related condition | |
| | ATXN3, LOC108663987 (Q126fs +11 more) | Insertion (frameshift variant +1 more) | not provided | |
| | ATXN3, LOC108663987 (T70A +4 more) | Single nucleotide variant (synonymous variant +2 more) | ATXN3-related condition +2 more | |
| | | Microsatellite | Azorean disease | |
| | | Microsatellite | Azorean disease | |
| | LOC108663987, ATXN3 (K295del +11 more) | Deletion (inframe_deletion +1 more) | not specified | |
| | LOC108663987, ATXN3 (K295Q +11 more) | Single nucleotide variant (missense variant +1 more) | ATXN3-related condition +1 more | |
| | ATXN3, LOC108663987 (K67E +4 more) | Single nucleotide variant (synonymous variant +2 more) | ATXN3-related condition +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Tip-toe gait +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | ATXN3-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +3 more) | ATXN3-related condition | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | ATXN3-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Achondrogenesis, type IA | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | SERPINA10, SERPINA11 +74 more | Copy number loss | Deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |