| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Brown-Vialetto-van Laere syndrome 2 +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene