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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
Deletion
(splice donor variant)
Cafe au lait spots, multiple
+3 more
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
+7 more
GPathogenic/Likely pathogenic
NF1
(R816*)
Single nucleotide variant
(nonsense)
Juvenile myelomonocytic leukemia
+13 more
GPathogenic
NF1
(W2473* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+9 more
GPathogenic
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