| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Perry syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Perry syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene