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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXW7
(R689Q +2 more)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, and impaired language
GPathogenic
FBXW7
(R674W +2 more)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, and impaired language
+1 more
GPathogenic
FBXW7
(N454fs +2 more)
Deletion
(frameshift variant)
Developmental delay, hypotonia, and impaired language
GPathogenic
FBXW7
(D480G +2 more)
Single nucleotide variant
(missense variant)
Pervasive developmental disorder
GLikely pathogenic
FBXW7
(G423R +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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