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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1QTNF5, MFRP
Single nucleotide variant
(splice acceptor variant)
Isolated microphthalmia 5
GLikely pathogenic
MFRP, C1QTNF5
(P36fs)
Duplication
(5 prime UTR variant +1 more)
Isolated microphthalmia 5
GLikely pathogenic