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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPM
(Y1712*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
ASPM
(A1406T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance