| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC126860792, PMPCA (R268Q +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 2 | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 2 | |
Click to view in NCBI Gene