Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 2 | |
| | | Microsatellite | Spinocerebellar ataxia type 2 | |
| | LOC130008791, ATXN2 +1 more | Microsatellite | Parkinson disease, late-onset +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Spinocerebellar ataxia type 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Spinocerebellar ataxia type 2 +1 more | |
| | ATXN2, LOC130008791 (Q28del) | Microsatellite (inframe_deletion +2 more) | Spinocerebellar ataxia type 2 | |
| | | Deletion (intron variant) | not specified +1 more | |
| | | Duplication (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +1 more | |
Click to view in NCBI Gene