| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | 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 | |
| | | Single nucleotide variant (missense variant) | Pituitary hormone deficiency, combined, 1 +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene