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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC30, PPCS
(R133W)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CCDC30, PPCS
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity