| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | |
| | | Deletion (intron variant) | Normal pregnancy | |
| | | Deletion (intron variant) | Normal pregnancy | |
Click to view in NCBI Gene