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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OFD1, TRAPPC2
(Q125fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
BMX, CXorf38
+821 more
Copy number gain
Klinefelter syndrome
GPathogenic