| | LINC02522, LINC02525 +823 more | Copy number gain | See cases | |
| | LOC129995714, LOC129995715 +777 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129389446, LOC129389447 +617 more | Copy number loss | See cases | |
| | LOC129995913, LOC129995914 +1340 more | Copy number gain | See cases | |
| | ATXN1, ATXN1-AS1 +135 more | Copy number loss | See cases | |
| | ATXN1, ATXN1-AS1 +162 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | ATXN1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ATXN1-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ATXN1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ATXN1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tip-toe gait | |
| | | Single nucleotide variant (synonymous variant +1 more) | ATXN1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | ATXN1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | ATXN1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Microsatellite (inframe_insertion +1 more) | not specified +1 more | |
| | | Microsatellite (inframe_insertion +1 more) | ATXN1-related condition +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | ATXN1-related condition | |
| | ATXN1, LOC108663993 (Q225H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Insertion (inframe insertion +2 more) | ATXN1-related condition | |
| | | Insertion (inframe_indel +2 more) | ATXN1-related condition | |
| | ATXN1, LOC108663993 (Q215H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Insertion (inframe_insertion +1 more) | Spinocerebellar ataxia type 1 | |
| | | Microsatellite (inframe_indel +2 more) | ATXN1-related condition | |
| | | Insertion (inframe_insertion +1 more) | ATXN1-related condition | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | ATXN1, LOC108663993 (Q213H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Microsatellite (inframe_indel +2 more) | ATXN1-related condition | |
| | ATXN1, LOC108663993 (Q212H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ATXN1, LOC108663993 (H211del) | Deletion (inframe_deletion +1 more) | not specified | |
| | | Duplication (inframe_indel +2 more) | ATXN1-related condition | |
| | ATXN1, LOC108663993 (H211Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ATXN1, LOC108663993 (Q210H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Microsatellite (inframe_indel +2 more) | ATXN1-related condition | |
| | | Microsatellite (inframe_indel +2 more) | ATXN1-related condition | |
| | | Microsatellite (inframe_indel +2 more) | ATXN1-related condition | |
| | ATXN1, LOC108663993 (H209Q) | Single nucleotide variant (missense variant +1 more) | ATXN1-related condition | |
| | | Microsatellite (inframe_insertion +1 more) | ATXN1-related condition +2 more | |
| | ATXN1, LOC108663993 (Q208del) | Microsatellite (inframe_deletion +1 more) | ATXN1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (inframe_insertion +1 more) | not provided | |
| | LOC108663993, ATXN1 (Q208H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Microsatellite | Spinocerebellar ataxia type 1 | |
| | LOC108663993, ATXN1 (Q207H) | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 1 +1 more | GConflicting classifications of pathogenicity |
| | ATXN1, LOC108663993 (Q206H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ATXN1, LOC108663993 (Q204H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ATXN1, LOC108663993 (Q203H) | Single nucleotide variant (missense variant +1 more) | ATXN1-related condition +2 more | GConflicting classifications of pathogenicity |
| | ATXN1, LOC108663993 (Q202H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ATXN1, LOC108663993 (Q201H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | ATXN1-related condition | |
| | | Single nucleotide variant (missense variant) | ATXN1-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | ATXN1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | ATXN1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ATXN1-related condition | |