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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI2
(H1137Y +2 more)
Single nucleotide variant
(missense variant)
Hypertelorism
+9 more
GUncertain significance
PCSK7
(R560G)
Single nucleotide variant
(missense variant)
Midline facial cleft
+2 more
GUncertain significance
PCSK7
(K545T)
Single nucleotide variant
(missense variant)
Pericallosal lipoma
+2 more
GUncertain significance
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