| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Brown-Vialetto-van Laere syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Brown-Vialetto-van Laere syndrome 1 +1 more | |
Click to view in NCBI Gene