| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | |
Click to view in NCBI Gene