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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXC1, LOC129995601
(S82R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
IDUA
(V172fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
GPathogenic