U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(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
(L1431R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FLNB
(N1571del +1 more)
Deletion
(inframe_deletion)
Larsen syndrome
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
(P1603L +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
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
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+18 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination