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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CKAP2L
(I225fs +1 more)
Deletion
(frameshift variant)
Filippi syndrome
GPathogenic
CKAP2L, NT5DC4
(R524H +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance