| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LHX4-AS1, ACBD6 +1 more (L190R) | Single nucleotide variant (missense variant +1 more) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
| | ACBD6, LHX4-AS1 +1 more (A210P) | Single nucleotide variant (missense variant +1 more) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
| | ACBD6, LHX4 +1 more (P388T) | Single nucleotide variant (missense variant) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
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