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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR4733HG, LOC111811965
+1 more
(E19*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic
NF1
(R192*)
Single nucleotide variant
(nonsense)
Axillary freckling
+8 more
GPathogenic
NF1
(Q282*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
NF1
(M707fs)
Deletion
(frameshift variant)
See cases
GLikely pathogenic
NF1
Single nucleotide variant
(splice donor variant)
Neurofibromatosis, type 1
+4 more
GPathogenic
NF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NF1
Deletion
(frameshift variant)
Increased nuchal translucency
+7 more
GPathogenic
NF1
(N1154I)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+1 more
GPathogenic/Likely pathogenic
NF1
(R1276Q)
Single nucleotide variant
(missense variant)
Neurofibromatosis-Noonan syndrome
+7 more
GPathogenic
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