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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGBP1, LOC130068396
(P13A)
Single nucleotide variant
(missense variant)
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
GUncertain significance
IGBP1
(Y332C +1 more)
Single nucleotide variant
(missense variant)
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
GUncertain significance