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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TFAP2A
(K340fs +2 more)
Deletion
(frameshift variant)
Hypertelorism
+13 more
GPathogenic
TFAP2A
(C341R +2 more)
Single nucleotide variant
(missense variant)
Branchiooculofacial syndrome
GLikely pathogenic