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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
(R1000fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(M1035V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
NF1
(R1748* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
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