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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D2A
(E842Q +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
GUncertain significance
CC2D2A
(R1019Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance