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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNB
(W148R)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(F161C)
Single nucleotide variant
(missense variant)
Connective tissue disorder
GLikely pathogenic
FLNB
(G168S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FLNB
(L171Q)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(G181V)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(C183W)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(A201V)
Single nucleotide variant
(missense variant)
Atelosteogenesis type III
Gnot provided
FLNB
(Q203P)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(G210V)
Single nucleotide variant
(missense variant)
Atelosteogenesis type III
Gnot provided
FLNB
(E227K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
FLNB
(L234V)
Single nucleotide variant
(missense variant)
Larsen syndrome
Gnot provided
FLNB
(G361S)
Single nucleotide variant
(missense variant)
Larsen syndrome
Gnot provided
FLNB
(G363E)
Single nucleotide variant
(missense variant)
Larsen syndrome
Gnot provided
FLNB
(R649*)
Single nucleotide variant
(nonsense)
FLNB-Related Spectrum Disorders
+1 more
GPathogenic
FLNB
(R818*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLNB
(L1431R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FLNB
(N1571del +1 more)
Deletion
(inframe_deletion)
Larsen syndrome
Gnot provided
FLNB
(D1583del +1 more)
Deletion
(inframe_deletion)
Atelosteogenesis type I
Gnot provided
FLNB
(G1586R +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GPathogenic
FLNB
(V1592D +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
Gnot provided
FLNB
(S1602P +1 more)
Single nucleotide variant
(missense variant)
Atelosteogenesis type III
Gnot provided
FLNB
(P1603L +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
Gnot provided
FLNB
(R1607* +1 more)
Single nucleotide variant
(nonsense)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
(G1612D +1 more)
Single nucleotide variant
(missense variant)
FLNB-Related Disorders
Gnot provided
FLNB
(A1643S +1 more)
Single nucleotide variant
(missense variant)
Atelosteogenesis type III
Gnot provided
FLNB
(G1691S +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
FLNB
(G1834R +3 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GPathogenic
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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