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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXC2
(P309fs)
Duplication
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(Y313*)
Single nucleotide variant
(nonsense)
Distichiasis-lymphedema syndrome
GLikely pathogenic