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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
Deletion
(splice acceptor variant)
Intellectual disability
GPathogenic
NF1
(R1809C +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+10 more
GPathogenic