NM_001457.4(FLNB):c.679G>A (p.Glu227Lys)Pathogenic
Larsen syndrome|not provided|FLNB-related disorder
β
β
ββ2026β Residue 227
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)Pathogenic
not provided|Larsen syndrome|See cases|FLNB-related disorder|Inborn genetic diseases|Atelosteogenesis type III;Atelosteogenesis type I;Boomerang dysplasia;Spondylocarpotarsal synostosis syndrome;Larsen syndrome
β
β
ββ2026β Residue 168
NM_001457.4(FLNB):c.4387C>T (p.Arg1463Ter)Pathogenic
not provided
β
β
ββ2026β Residue 1463
NM_001457.4(FLNB):c.4185C>A (p.Tyr1395Ter)Pathogenic
FLNB-related disorder|not provided
β
β
ββ2025β Residue 1395
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser)Pathogenic
Larsen syndrome|not provided|Atelosteogenesis type III;Larsen syndrome;Spondylocarpotarsal synostosis syndrome;Atelosteogenesis type I;Boomerang dysplasia
β
β
ββ2025β Residue 1691
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter)Pathogenic
Spondylocarpotarsal synostosis syndrome|FLNB-Related Spectrum Disorders|not provided
β
β
ββ2025β Residue 649
NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del)Likely pathogenic
Patellar hypoplasia;Knee dislocation;Limited knee flexion/extension|not provided
β
β
ββ2025β Residue 1792
NM_001457.4(FLNB):c.1740dup (p.Ser581fs)Pathogenic
See cases|not provided
β
β
ββ2025β Residue 581
NM_001457.4(FLNB):c.5110-1G>ALikely pathogenic
not provided
β
β
ββ2025
NM_001457.4(FLNB):c.4112C>A (p.Ser1371Ter)Pathogenic
not provided
β
β
ββ2025β Residue 1371
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)Likely pathogenic
Larsen syndrome|Connective tissue disorder|not provided
β
β
ββ2025β Residue 161
NM_001457.4(FLNB):c.500A>G (p.Asp167Gly)Likely pathogenic
not provided
β
β
ββ2024β Residue 167
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)Pathogenic
Larsen syndrome|Abnormality of the skeletal system|not provided
β
β
ββ2024β Residue 1691
NM_001457.4(FLNB):c.1592dup (p.His532fs)Pathogenic
Spondylocarpotarsal synostosis syndrome
β
β
ββ2023β Residue 532
NM_001457.4(FLNB):c.6616G>T (p.Gly2206Ter)Pathogenic
not provided
β
β
ββ2022β Residue 2206
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter)Pathogenic
not provided|Spondylocarpotarsal synostosis syndrome
β
β
ββ2022β Residue 1948
NM_001457.4(FLNB):c.1082G>A (p.Gly361Asp)Pathogenic
not provided|Larsen syndrome
β
β
ββ2020β Residue 361
NM_001457.4(FLNB):c.4713_4715del (p.Asn1571del)Likely pathogenic
Larsen syndrome
β
βββ2026β Residue 1571
NM_001457.4(FLNB):c.950_951del (p.Val317fs)Likely pathogenic
Spondylocarpotarsal synostosis syndrome
β
βββ2026β Residue 317
NM_001457.4(FLNB):c.2998del (p.Glu1000fs)Likely pathogenic
Short stature
β
βββ2026β Residue 1000