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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932021, LOC129932022
+478 more
Copy number loss
See cases
GPathogenic
B3GALT2, CDC73
+21 more
Copy number loss
See cases
GPathogenic
RGS2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
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