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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNOT1
(L1544fs)
Duplication
(frameshift variant +1 more)
See cases
GUncertain significance
CNOT1
(I203T)
Single nucleotide variant
(missense variant +1 more)
See cases
GLikely pathogenic