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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI2
(H1137Y +2 more)
Single nucleotide variant
(missense variant)
Hypertelorism
+9 more
GUncertain significance
SMARCE1
(W104R)
Single nucleotide variant
(missense variant)
Tessier cleft
GPathogenic