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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
Single nucleotide variant
(splice acceptor variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(R1512fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis-Noonan syndrome
GPathogenic