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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRDL1
(C211Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Isolated congenital megalocornea
GLikely pathogenic
CHRDL1
Single nucleotide variant
(splice donor variant)
Isolated congenital megalocornea
GPathogenic