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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEMIP2
(W1048* +2 more)
Single nucleotide variant
(nonsense)
Hypertelorism
+5 more
GPathogenic
CEMIP2
(C453Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
Hypertelorism
+5 more
GPathogenic