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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C17orf47, CCDC182
+168 more
Copy number loss
See cases
GPathogenic
LOC130061266, SRSF1
(R97*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance