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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS1
(T451K +1 more)
Single nucleotide variant
(missense variant)
Cafe au lait spots, multiple
+1 more
GUncertain significance
NF1
(R816*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
+13 more
GPathogenic