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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
(M992del)
Deletion
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
NF1
(R1809G +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+1 more
GPathogenic/Likely pathogenic
NF1
(R1809S +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(R1809C +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+11 more
GConflicting classifications of pathogenicity
NF1
(R1809P +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(R1809L +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+7 more
GPathogenic/Likely pathogenic
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