FLNB Chromosome 3

Filamin B

360 variants 360 Health Risk

Upload your DNA to see your personal genotypes for variants in FLNB.

What This Gene Does

This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

Gene Info

Gene Group

Filamin family

Locus Type

gene with protein product

Location

3p14.3

Ensembl

ENSG00000136068

Associated Conditions (26)

Inborn genetic diseases

FLNB-Related Spectrum Disorders

Connective tissue disorder

FLNB-related disorder

Larsen syndrome

Spondylocarpotarsal synostosis syndrome

Skeletal dysplasia

Atelosteogenesis type III

Atelosteogenesis type I

Boomerang dysplasia

Ovarian serous cystadenocarcinoma

Thyroid cancer

nonmedullary

Lung cancer

Colon adenocarcinoma

Sarcoma

Familial cancer of breast

Gastric cancer

Malignant tumor of esophagus

+6 more conditions

Key Variants

RS1021647942

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1032256376

Conflicting classifications of pathogenicity

Health Risk

RS1042412076

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS112942586

Conflicting classifications of pathogenicity

Health Risk

RS113513946

Conflicting classifications of pathogenicity

Health Risk

RS114804033

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS116142791

Conflicting classifications of pathogenicity

Health Risk

RS13321615

Conflicting classifications of pathogenicity

Health Risk

RS1341441238

Conflicting classifications of pathogenicity

Health Risk

RS1343990349

Conflicting classifications of pathogenicity

Health Risk

RS1350216610

Conflicting classifications of pathogenicity

Health Risk

RS1356745912

Conflicting classifications of pathogenicity

Larsen syndrome, Larsen syndrome

Health Risk

All Variants (360)

RSID	Category	Clinical Significance	Conditions
RS80356511	Health Risk	Likely pathogenic	Larsen syndrome, Larsen syndrome
RS80356520	Health Risk	Likely pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS1000098671	Health Risk	Pathogenic	See cases, See cases
RS121908894	Health Risk	Pathogenic	Atelosteogenesis type I, Atelosteogenesis type I
RS121908895	Health Risk	Pathogenic	Atelosteogenesis type I, Atelosteogenesis type III, Atelosteogenesis type I
RS121908896	Health Risk	Pathogenic	Boomerang dysplasia, Boomerang dysplasia
RS121908897	Health Risk	Pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS121908898	Health Risk	Pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS1352510294	Health Risk	Pathogenic	—
RS1428092166	Health Risk	Pathogenic	—
RS1575457582	Health Risk	Pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS200335307	Health Risk	Pathogenic	—
RS2097238148	Health Risk	Pathogenic	—
RS2097315347	Health Risk	Pathogenic	—
RS2106654966	Health Risk	Pathogenic	—
RS2106952084	Health Risk	Pathogenic	—
RS2107062364	Health Risk	Pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS2107082636	Health Risk	Pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS2107092260	Health Risk	Pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS2107212252	Health Risk	Pathogenic	—
RS2107212379	Health Risk	Pathogenic	—
RS2107224894	Health Risk	Pathogenic	Atelosteogenesis type I, Atelosteogenesis type I
RS2107344308	Health Risk	Pathogenic	—
RS2470990473	Health Risk	Pathogenic	—
RS2470996526	Health Risk	Pathogenic	—
RS2471050696	Health Risk	Pathogenic	—
RS2471064085	Health Risk	Pathogenic	—
RS2471064241	Health Risk	Pathogenic	—
RS2471072801	Health Risk	Pathogenic	—
RS2471093119	Health Risk	Pathogenic	—
RS2471116702	Health Risk	Pathogenic	—
RS2471124965	Health Risk	Pathogenic	—
RS2471131635	Health Risk	Pathogenic	—
RS2471165001	Health Risk	Pathogenic	—
RS2471190127	Health Risk	Pathogenic	—
RS2471190188	Health Risk	Pathogenic	—
RS2471197087	Health Risk	Pathogenic	—
RS2471210683	Health Risk	Pathogenic	—
RS2477192770	Health Risk	Pathogenic	—
RS375699133	Health Risk	Pathogenic	—
RS541513836	Health Risk	Pathogenic	—
RS587777259	Health Risk	Pathogenic	Atelosteogenesis type I, Atelosteogenesis type I
RS746105983	Health Risk	Pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS746892435	Health Risk	Pathogenic	Larsen syndrome, Larsen syndrome
RS775301566	Health Risk	Pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS775714153	Health Risk	Pathogenic	Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS794727854	Health Risk	Pathogenic	Larsen syndrome, Larsen syndrome
RS80356494	Health Risk	Pathogenic	Boomerang dysplasia, Boomerang dysplasia
RS80356503	Health Risk	Pathogenic	Larsen syndrome, Boomerang dysplasia, Spondylocarpotarsal synostosis syndrome
RS80356508	Health Risk	Pathogenic	Larsen syndrome, FLNB-related disorder, Larsen syndrome

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