| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
| | ACBD6, LHX4
+1 more (E247V) | Single nucleotide variant (non-coding transcript variant +1 more) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome +1 more | |
| | ACBD6, LHX4
+1 more (I341T) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ACBD6, LHX4
+1 more (G357E) | Single nucleotide variant (missense variant) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
| | ACBD6, LHX4
+1 more (I363F) | Single nucleotide variant (missense variant) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
Click to view in NCBI Gene