| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | RASopathy | |
| | | Duplication | Cornelia de Lange syndrome 3 | |
| | | Duplication | Dilated cardiomyopathy 1DD +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Dilated cardiomyopathy 1DD | |
Click to view in NCBI Gene