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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CABP4
(R52*)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GPathogenic
CABP4
(R98*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
CABP4
(R225* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
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