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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNB
(R649*)
Single nucleotide variant
(nonsense)
FLNB-Related Spectrum Disorders
+1 more
GPathogenic
FLNB
(R818*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLNB
(R1607* +1 more)
Single nucleotide variant
(nonsense)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
(S2113fs +3 more)
Deletion
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GPathogenic
FLNB, FLNB-AS1
(Y2343* +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Spondylocarpotarsal synostosis syndrome
Gnot provided
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