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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FIBP
(H250fs +1 more)
Deletion
(frameshift variant)
Tall stature-intellectual disability-renal anomalies syndrome
GLikely pathogenic
FIBP
(G187fs)
Deletion
(frameshift variant)
Tall stature-intellectual disability-renal anomalies syndrome
GLikely pathogenic