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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAM3
Single nucleotide variant
(splice donor variant)
Porencephaly-microcephaly-bilateral congenital cataract syndrome
GPathogenic
AASDHPPT, ABCG4
+259 more
Duplication
Distal trisomy 11q
GPathogenic