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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GPathogenic
B3GLCT
Single nucleotide variant
(splice donor variant)
B3GLCT-related condition
+2 more
GPathogenic
B3GLCT
(Y366*)
Single nucleotide variant
(nonsense)
Peters plus syndrome
Gnot provided
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