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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LHX4-AS1, ACBD6
+1 more
(L190P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(N207K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance