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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D2A
(W464* +1 more)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(P1160fs +1 more)
Deletion
(frameshift variant)
Meckel-Gruber syndrome
GPathogenic