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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
(R1534* +1 more)
Single nucleotide variant
(nonsense)
Abnormality of the skin
+8 more
GPathogenic/Likely pathogenic
NF1
(R681*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
+8 more
GPathogenic