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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD11
(E1773*)
Single nucleotide variant
(nonsense)
Hypertelorism
+9 more
GPathogenic
MLLT1
(R473Q)
Single nucleotide variant
(missense variant)
Hypertelorism
+6 more
GLikely pathogenic