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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
KBTBD3, KDM4D
+528 more
Copy number loss
See cases
GPathogenic
LOC101929174, LOC102723838
+378 more
Copy number loss
See cases
GPathogenic
LOC101929174, CTSC
Single nucleotide variant
not provided
GBenign
CTSC, LOC101929174
Deletion
not provided
GBenign
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