| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair | |
| | | Deletion (frameshift variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair | |
Click to view in NCBI Gene