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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI3
(E1109*)
Single nucleotide variant
(nonsense)
Pallister-Hall syndrome
GPathogenic
GLI3
(I867fs)
Deletion
(frameshift variant)
Pallister-Hall syndrome
GPathogenic
GLI3
(E456*)
Single nucleotide variant
(nonsense)
Pallister-Hall syndrome
GLikely pathogenic
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