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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF2
(N36S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NF2
Single nucleotide variant
(splice donor variant)
Neurofibromatosis, type 2
GPathogenic
NF2
(V72A)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
NF2
(P135S +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
NF2
(R142W +3 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
+1 more
GUncertain significance
NF2
(K284R +3 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
+1 more
GUncertain significance
NF2
(R420C +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
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