| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Cardiovascular phenotype +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Ocular albinism +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant +1 more) | Cerebral palsy +2 more | |
| | | Deletion | Congenital cerebellar hypoplasia +4 more | |
Click to view in NCBI Gene