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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, ACBD4
+633 more
Copy number gain
See cases
GPathogenic
ADAM11, ASB16
+104 more
Copy number loss
See cases
GPathogenic
SOST
Single nucleotide variant
(3 prime UTR variant)
Sclerosteosis 1
+1 more
GBenign
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