| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS9, ADAMTS9-AS1 +105 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ATXN7, LOC129936979 (P13S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ATXN7-related condition | |
| | ATXN7, LOC129936979 (A27T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN7, LOC108660406 +1 more | Microsatellite (inframe_insertion +1 more) | ATXN7-related condition | |
| | ATXN7, LOC108660406 +1 more | Microsatellite (inframe_insertion +1 more) | not provided | |
| | ATXN7, LOC108660406 +1 more | Microsatellite (inframe_insertion +1 more) | not provided | |
| | ATXN7, LOC108660406 +1 more | Microsatellite (inframe_insertion) | Spinocerebellar ataxia 7 | |
| | LOC108660406, ATXN7 +1 more | Microsatellite (inframe_insertion) | not specified | |
| | ATXN7, LOC108660406 +1 more (Q39del) | Microsatellite (inframe_deletion) | not specified | |
| | ATXN7, LOC108660406 +1 more | Microsatellite | Spinocerebellar ataxia 7 | |
| | ATXN7, LOC108660406 +1 more (Q34P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN7, LOC108660406 +1 more (Q35P) | Single nucleotide variant (missense variant) | ATXN7-related condition | |
| | ATXN7, LOC108660406 +1 more | Insertion (inframe_insertion) | Spinocerebellar ataxia 7 | |
| | ATXN7, LOC108660406 +1 more (Q37H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN7, LOC108660406 +1 more | Microsatellite (inframe_insertion +1 more) | not provided | |
| | ATXN7, LOC108660406 +1 more | Insertion (inframe_insertion +1 more) | not provided | |
| | ATXN7, LOC108660406 +1 more (Q39P) | Single nucleotide variant (missense variant) | not provided | |
| | ATXN7, LOC129936979 (P42S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN7, LOC129936979 (P43A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN7, LOC129936979 (Q48R) | Single nucleotide variant (missense variant) | not specified | |
| | ATXN7, LOC129936979 (P60R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN7, LOC129936979 (S71A) | Single nucleotide variant (missense variant) | not provided | |
| | ATXN7, LOC129936979 (T77R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ATXN7-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Abnormality of neuronal migration | |
| | | Single nucleotide variant (missense variant) | ATXN7-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ATXN7-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ATXN7-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Tip-toe gait | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia 7 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ATXN7-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (inframe_deletion) | Spinocerebellar ataxia 7 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |