FLNB (filamin B) - Rat Genome Database

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Advanced Search (OLGA)
Gene: FLNB (filamin B) Homo sapiens
Analyze
Symbol: FLNB
Name: filamin B
RGD ID: 1323621
HGNC Page HGNC:3755
Description: Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within several processes, including cellular response to type II interferon; epithelial cell development; and skeletal muscle tissue development. Located in cytosol and plasma membrane. Implicated in Larsen syndrome; bone development disease (multiple); cleft palate; and spinal disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABP-278; ABP-280; ABP-280 homolog; actin binding protein 278; actin-binding-like protein; AOI; beta-filamin; DKFZp686A1668; DKFZp686O033; FH1; filamin 1 (actin-binding protein-280)-like; filamin B, beta; filamin homolog 1; filamin-3; filamin-B; FLN-B; FLN1L; Larsen syndrome 1 (autosomal dominant); LRS1; SCT; TABP; TAP; thyroid autoantigen; truncated ABP; truncated actin-binding protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38358,008,422 - 58,172,251 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl358,008,398 - 58,172,251 (+)EnsemblGRCh38hg38GRCh38
GRCh37357,994,149 - 58,157,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,969,167 - 58,133,018 (+)NCBINCBI36Build 36hg18NCBI36
Build 34357,969,200 - 58,133,015NCBI
Celera358,008,139 - 58,172,548 (+)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef358,091,507 - 58,255,398 (+)NCBIHuRef
CHM1_1357,944,271 - 58,108,169 (+)NCBICHM1_1
T2T-CHM13v2.0358,048,835 - 58,212,708 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
choline  (ISO)
ciglitazone  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (ISO)
dicrotophos  (EXP)
dimethylselenide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP)
ethylparaben  (EXP)
fenamidone  (ISO)
fenthion  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glycidyl methacrylate  (EXP)
glyphosate  (EXP)
hydrogen peroxide  (ISO)
hydroxyl  (EXP)
indometacin  (EXP)
inulin  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
menadione  (ISO)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
piroxicam  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
rofecoxib  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
Soman  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
11 pairs of ribs  (IAGP)
Abnormal bone ossification  (IAGP)
Abnormal cervical curvature  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal fibula morphology  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal morphology of the radius  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal ossification involving the femoral head and neck  (IAGP)
Abnormal pancreatic duct morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormal tibia morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the humerus  (IAGP)
Abnormality of the skeletal system  (IAGP)
Abnormally ossified vertebrae  (IAGP)
Absent humerus  (IAGP)
Absent or minimally ossified vertebral bodies  (IAGP)
Absent radius  (IAGP)
Accessory carpal bones  (IAGP)
Ankle dislocation  (IAGP)
Anteverted nares  (IAGP)
Aortic aneurysm  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Aplasia/Hypoplasia of the fibula  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Aplasia/Hypoplasia of the ulna  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Beaking of vertebral bodies  (IAGP)
Bell-shaped thorax  (IAGP)
Bipartite calcaneus  (IAGP)
Block vertebrae  (IAGP)
Bowed humerus  (IAGP)
Brachydactyly  (IAGP)
Broad distal phalanx of finger  (IAGP)
Broad face  (IAGP)
Broad finger  (IAGP)
Broad nasal tip  (IAGP)
Broad thumb  (IAGP)
Bronchomalacia  (IAGP)
C2-C3 subluxation  (IAGP)
Capitate-hamate fusion  (IAGP)
Carpal synostosis  (IAGP)
Cataract  (IAGP)
Cervical kyphosis  (IAGP)
Cervical segmentation defect  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Club-shaped distal femur  (IAGP)
Club-shaped proximal femur  (IAGP)
Clubbing  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Corneal opacity  (IAGP)
Coronal cleft vertebrae  (IAGP)
Coxa vara  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed toe phalanx ossification  (IAGP)
Depressed nasal bridge  (IAGP)
Dislocated wrist  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Distal tapering femur  (IAGP)
Elbow dislocation  (IAGP)
Enamel hypoplasia  (IAGP)
Encephalocele  (IAGP)
Enlarged cisterna magna  (IAGP)
Epiphyseal dysplasia  (IAGP)
Epiphyseal stippling of the humerus  (IAGP)
Failure of eruption of permanent teeth  (IAGP)
Fibular aplasia  (IAGP)
Finger syndactyly  (IAGP)
Flat acetabular roof  (IAGP)
Flat face  (IAGP)
Frontal bossing  (IAGP)
Fused cervical vertebrae  (IAGP)
Global developmental delay  (IAGP)
Hand clenching  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hitchhiker thumb  (IAGP)
Horizontal sacrum  (IAGP)
Hydrops fetalis  (IAGP)
Hyperlordosis  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypoplastic cervical vertebrae  (IAGP)
Hypoplastic iliac body  (IAGP)
Hypoplastic nasal septum  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Knee dislocation  (IAGP)
Large joint dislocations  (IAGP)
Laryngeal stenosis  (IAGP)
Laryngotracheal stenosis  (IAGP)
Laryngotracheomalacia  (IAGP)
Limb undergrowth  (IAGP)
Limited elbow extension  (IAGP)
Long clavicles  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Malrotation of colon  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Midface retrusion  (IAGP)
Mixed hearing impairment  (IAGP)
Multinucleated giant chondrocytes in epiphyseal cartilage  (IAGP)
Multiple carpal ossification centers  (IAGP)
Multiple renal cysts  (IAGP)
Narrow chest  (IAGP)
Neonatal death  (IAGP)
Neonatal short-trunk short stature  (IAGP)
Omphalocele  (IAGP)
Patellar dislocation  (IAGP)
Patellar hypoplasia  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Platybasia  (IAGP)
Platyspondyly  (IAGP)
Polyhydramnios  (IAGP)
Poorly ossified vertebrae  (IAGP)
Preauricular skin tag  (IAGP)
Premature birth  (IAGP)
Prominent forehead  (IAGP)
Prominent occiput  (IAGP)
Proptosis  (IAGP)
Protuberant abdomen  (IAGP)
Pulmonary hypoplasia  (IAGP)
Radial bowing  (IAGP)
Renal cyst  (IAGP)
Respiratory insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinal dysplasia  (IAGP)
Rhizomelia  (IAGP)
Sandal gap  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe postnatal growth retardation  (IAGP)
Severe short stature  (IAGP)
Severe short-limb dwarfism  (IAGP)
Shallow orbits  (IAGP)
Short distal phalanx of finger  (IAGP)
Short femur  (IAGP)
Short finger  (IAGP)
Short humerus  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short nail  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Short tibia  (IAGP)
Short tubular bones of the hand  (IAGP)
Small foramen magnum  (IAGP)
Spatulate thumbs  (IAGP)
Spina bifida occulta  (IAGP)
Spinal cord compression  (IAGP)
Spondylolysis  (IAGP)
Sporadic  (IAGP)
Stillbirth  (IAGP)
Talipes  (IAGP)
Talipes equinovalgus  (IAGP)
Talipes equinovarus  (IAGP)
Tapered humerus  (IAGP)
Tarsal synostosis  (IAGP)
Telecanthus  (IAGP)
Thoracic hypoplasia  (IAGP)
Thoracic platyspondyly  (IAGP)
Thoracolumbar kyphosis  (IAGP)
Tibial bowing  (IAGP)
Tombstone-shaped proximal phalanges  (IAGP)
Tracheal stenosis  (IAGP)
Tracheomalacia  (IAGP)
Ulnar deviation of the wrist  (IAGP)
Underdeveloped nasal alae  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral fusion  (IAGP)
Vertebral hypoplasia  (IAGP)
Vertebral segmentation defect  (IAGP)
Wide nasal bridge  (IAGP)
Widened distal phalanges  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutations in FLNB cause boomerang dysplasia. Bicknell LS, etal., J Med Genet. 2005 Jul;42(7):e43.
2. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Bicknell LS, etal., J Med Genet. 2007 Feb;44(2):89-98. Epub 2006 Jun 26.
3. Integrin inactivators: balancing cellular functions in vitro and in vivo. Bouvard D, etal., Nat Rev Mol Cell Biol. 2013 Jul;14(7):430-42. doi: 10.1038/nrm3599. Epub 2013 May 30.
4. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Farrington-Rock C, etal., Hum Mol Genet. 2008 Mar 1;17(5):631-41. Epub 2007 Jul 17.
5. Mutations in two regions of FLNB result in atelosteogenesis I and III. Farrington-Rock C, etal., Hum Mutat. 2006 Jul;27(7):705-10.
6. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. Girisha KM, etal., BMC Med Genet. 2016 Apr 6;17:27. doi: 10.1186/s12881-016-0290-6.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. Jugessur A, etal., PLoS One. 2010 Jul 9;5(7):e11493. doi: 10.1371/journal.pone.0011493.
9. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Krakow D, etal., Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. Yang H, etal., Hum Genet. 2016 Oct;135(10):1181-9. doi: 10.1007/s00439-016-1701-7. Epub 2016 Jul 9.
Additional References at PubMed
PMID:7485161   PMID:8327473   PMID:9437013   PMID:9651345   PMID:9694715   PMID:10449914   PMID:10644691   PMID:10676904   PMID:11153914   PMID:11252955   PMID:11336782   PMID:11739414  
PMID:11807098   PMID:12006559   PMID:12077712   PMID:12119179   PMID:12393796   PMID:12496242   PMID:12525170   PMID:12577067   PMID:14702039   PMID:14744259   PMID:15054484   PMID:15231748  
PMID:15592455   PMID:16009940   PMID:16076904   PMID:16106752   PMID:16791210   PMID:16964243   PMID:17474147   PMID:18029348   PMID:18157088   PMID:18257094   PMID:18487259   PMID:18624398  
PMID:18799729   PMID:18809679   PMID:18815275   PMID:19039035   PMID:19052145   PMID:19054571   PMID:19056867   PMID:19270716   PMID:19300455   PMID:19366992   PMID:19453265   PMID:19505475  
PMID:19615732   PMID:19727905   PMID:19738201   PMID:19805454   PMID:20301736   PMID:20379614   PMID:20706999   PMID:21182205   PMID:21319273   PMID:21423176   PMID:21653829   PMID:22145905  
PMID:22174152   PMID:22190451   PMID:22586326   PMID:22623428   PMID:22681889   PMID:22721673   PMID:22802962   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23036857   PMID:23182705  
PMID:23401428   PMID:23401860   PMID:23402259   PMID:23414517   PMID:23533145   PMID:23568457   PMID:23648065   PMID:23979707   PMID:24169447   PMID:24176111   PMID:24457600   PMID:24711643  
PMID:24981860   PMID:25277244   PMID:25281560   PMID:25468996   PMID:25496916   PMID:25631074   PMID:25659154   PMID:25925610   PMID:25963833   PMID:26209609   PMID:26344197   PMID:26491051  
PMID:26496610   PMID:26561776   PMID:26618866   PMID:26777405   PMID:26831064   PMID:27114546   PMID:27337956   PMID:27462432   PMID:27576135   PMID:27779699   PMID:28145000   PMID:28175289  
PMID:28378594   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28581483   PMID:28611215   PMID:28639312   PMID:28652603   PMID:28675297   PMID:28685749   PMID:29095481   PMID:29117863  
PMID:29162697   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29566257   PMID:29594956   PMID:29676528   PMID:29797497   PMID:29872149   PMID:30059005   PMID:30097533   PMID:30258100  
PMID:30413534   PMID:30425250   PMID:30575818   PMID:30745168   PMID:30756369   PMID:30833792   PMID:30884312   PMID:30890647   PMID:30948266   PMID:31091453   PMID:31180492   PMID:31300519  
PMID:31324722   PMID:31353912   PMID:31409639   PMID:31452512   PMID:31501420   PMID:31519766   PMID:31586073   PMID:31792442   PMID:31980649   PMID:31995728   PMID:32249768   PMID:32322062  
PMID:32381728   PMID:32457219   PMID:32665550   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32785098   PMID:32786267   PMID:33005030   PMID:33022573   PMID:33024031   PMID:33111431  
PMID:33194618   PMID:33239621   PMID:33277362   PMID:33306668   PMID:33397691   PMID:33403043   PMID:33536335   PMID:33545068   PMID:33644029   PMID:33649519   PMID:33762435   PMID:33916386  
PMID:33961781   PMID:34131310   PMID:34244482   PMID:34247365   PMID:34349018   PMID:34491919   PMID:34537242   PMID:34645483   PMID:34709266   PMID:34728620   PMID:35013218   PMID:35032548  
PMID:35235311   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35474131   PMID:35509820   PMID:35563538   PMID:35575683   PMID:35676659   PMID:35681168   PMID:35831314  
PMID:35832491   PMID:35850772   PMID:35914814   PMID:35944360   PMID:35973513   PMID:36042349   PMID:36055981   PMID:36114006   PMID:36215168   PMID:36217030   PMID:36243803   PMID:36357400  
PMID:36376293   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36579465   PMID:36634849   PMID:36652389   PMID:37071682   PMID:37220855   PMID:37223481   PMID:37433992  
PMID:37640791   PMID:37774976   PMID:37827155   PMID:38113892   PMID:38316082   PMID:38334954   PMID:38412044   PMID:38743867   PMID:38880187   PMID:39231216  


Genomics

Comparative Map Data
FLNB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38358,008,422 - 58,172,251 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl358,008,398 - 58,172,251 (+)EnsemblGRCh38hg38GRCh38
GRCh37357,994,149 - 58,157,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,969,167 - 58,133,018 (+)NCBINCBI36Build 36hg18NCBI36
Build 34357,969,200 - 58,133,015NCBI
Celera358,008,139 - 58,172,548 (+)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef358,091,507 - 58,255,398 (+)NCBIHuRef
CHM1_1357,944,271 - 58,108,169 (+)NCBICHM1_1
T2T-CHM13v2.0358,048,835 - 58,212,708 (+)NCBIT2T-CHM13v2.0
Flnb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391414,518,185 - 14,651,852 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1414,518,185 - 14,651,816 (-)EnsemblGRCm39 Ensembl
GRCm38147,817,921 - 7,951,588 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl147,817,957 - 7,951,588 (+)EnsemblGRCm38mm10GRCm38
MGSCv37148,650,471 - 8,784,102 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36146,608,366 - 6,743,464 (+)NCBIMGSCv36mm8
Celera143,438,528 - 3,574,962 (+)NCBICelera
Cytogenetic Map14A1NCBI
cM Map144.59NCBI
Flnb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81519,392,212 - 19,525,278 (-)NCBIGRCr8
mRatBN7.21516,961,999 - 17,095,059 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1516,962,003 - 17,095,006 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1519,136,669 - 19,269,742 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01520,095,144 - 20,228,215 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01518,350,059 - 18,483,132 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01518,750,152 - 18,883,019 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1518,750,118 - 18,883,005 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01522,716,606 - 22,849,401 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41518,949,027 - 19,082,504 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11518,950,017 - 19,108,490 (-)NCBI
Celera1516,918,384 - 17,051,016 (-)NCBICelera
Cytogenetic Map15p14NCBI
Flnb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554307,680,394 - 7,832,124 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554307,680,394 - 7,832,124 (+)NCBIChiLan1.0ChiLan1.0
FLNB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2257,978,724 - 58,142,635 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1357,983,508 - 58,147,409 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0357,943,263 - 58,107,115 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1359,359,234 - 59,521,989 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl359,359,234 - 59,521,989 (+)Ensemblpanpan1.1panPan2
FLNB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12032,394,755 - 32,533,440 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2032,396,165 - 32,533,275 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2032,324,259 - 32,462,636 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02032,668,416 - 32,806,815 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2032,668,423 - 32,806,776 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12032,123,648 - 32,261,938 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02032,480,340 - 32,618,596 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02032,652,257 - 32,790,526 (-)NCBIUU_Cfam_GSD_1.0
Flnb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118175,129,741 - 175,274,947 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364738,268,496 - 8,411,975 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364738,268,326 - 8,413,955 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FLNB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1339,789,739 - 39,938,746 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11339,789,259 - 39,938,751 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21343,752,537 - 43,820,891 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FLNB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12219,304,822 - 19,468,037 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2219,304,781 - 19,468,036 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041147,393,314 - 147,556,732 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Flnb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624821691,272 - 836,322 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624821691,291 - 835,244 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FLNB
2016 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001457.4(FLNB):c.1259C>T (p.Pro420Leu) single nucleotide variant not provided [RCV000518966]|not specified [RCV004526695] Chr3:58098822 [GRCh38]
Chr3:58084549 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val) single nucleotide variant Atelosteogenesis type III [RCV002476050]|not provided [RCV000520108] Chr3:58136037 [GRCh38]
Chr3:58121764 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) single nucleotide variant Connective tissue disorder [RCV002276538]|Larsen syndrome [RCV000030660] Chr3:58077235 [GRCh38]
Chr3:58062962 [GRCh37]
Chr3:3p14.3		 pathogenic|likely pathogenic
NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg) single nucleotide variant Larsen syndrome [RCV000030661] Chr3:58136063 [GRCh38]
Chr3:58121790 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.679G>A (p.Glu227Lys) single nucleotide variant FLNB-related disorder [RCV004734500]|Larsen syndrome [RCV000030662]|not provided [RCV001582470] Chr3:58081668 [GRCh38]
Chr3:58067395 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) single nucleotide variant Larsen syndrome [RCV000030663]|not provided [RCV001064985] Chr3:58138491 [GRCh38]
Chr3:58124218 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.1081G>A (p.Gly361Ser) single nucleotide variant Larsen syndrome [RCV000020441] Chr3:58097911 [GRCh38]
Chr3:58083638 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.1088G>A (p.Gly363Glu) single nucleotide variant Larsen syndrome [RCV000020442] Chr3:58097918 [GRCh38]
Chr3:58083645 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) single nucleotide variant FLNB-Related Spectrum Disorders [RCV002298447]|Spondylocarpotarsal synostosis syndrome [RCV000020443] Chr3:58108461 [GRCh38]
Chr3:58094188 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4292T>G (p.Leu1431Arg) single nucleotide variant Larsen syndrome [RCV000020444]|not provided [RCV001379117] Chr3:58130810 [GRCh38]
Chr3:58116537 [GRCh37]
Chr3:3p14.3		 pathogenic|likely pathogenic|not provided
NM_001457.4(FLNB):c.4713_4715del (p.Asn1571del) deletion Larsen syndrome [RCV000020446] Chr3:58136018..58136020 [GRCh38]
Chr3:58121745..58121747 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.4775T>A (p.Val1592Asp) single nucleotide variant Larsen syndrome [RCV000020448] Chr3:58136082 [GRCh38]
Chr3:58121809 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.4808C>T (p.Pro1603Leu) single nucleotide variant Larsen syndrome [RCV000020450] Chr3:58136115 [GRCh38]
Chr3:58121842 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg) single nucleotide variant Larsen syndrome [RCV000020455] Chr3:58145995 [GRCh38]
Chr3:58131722 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.700C>G (p.Leu234Val) single nucleotide variant Larsen syndrome [RCV000020459] Chr3:58081689 [GRCh38]
Chr3:58067416 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.7029T>G (p.Tyr2343Ter) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV000020460] Chr3:58163161 [GRCh38]
Chr3:58148888 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.4835G>A (p.Gly1612Asp) single nucleotide variant FLNB-related disorder [RCV004528148] Chr3:58136142 [GRCh38]
Chr3:58121869 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) single nucleotide variant FLNB-related disorder [RCV004528149]|Inborn genetic diseases [RCV004619190]|Larsen syndrome [RCV003152668]|See cases [RCV003156065]|not provided [RCV001596945] Chr3:58077255 [GRCh38]
Chr3:58062982 [GRCh37]
Chr3:3p14.3		 pathogenic|likely pathogenic|not provided
NM_001457.4(FLNB):c.6408del (p.Ser2137fs) deletion Spondylocarpotarsal synostosis syndrome [RCV000006767] Chr3:58153412 [GRCh38]
Chr3:58139139 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV000006768]|not provided [RCV003555947] Chr3:58110138 [GRCh38]
Chr3:58095865 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV000006769] Chr3:58136126 [GRCh38]
Chr3:58121853 [GRCh37]
Chr3:3p14.3		 pathogenic|likely pathogenic
NM_001457.4(FLNB):c.512T>G (p.Leu171Arg) single nucleotide variant Boomerang dysplasia [RCV000006774] Chr3:58077265 [GRCh38]
Chr3:58062992 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.703T>C (p.Ser235Pro) single nucleotide variant Boomerang dysplasia [RCV000006775] Chr3:58081692 [GRCh38]
Chr3:58067419 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV000006776] Chr3:58148771 [GRCh38]
Chr3:58134498 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV000006777] Chr3:58146043 [GRCh38]
Chr3:58131770 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6029G>A (p.Arg2010His) single nucleotide variant not provided [RCV001367554] Chr3:58148790 [GRCh38]
Chr3:58134517 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.7418-272G>C single nucleotide variant not provided [RCV001544776] Chr3:58169318 [GRCh38]
Chr3:58155045 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.576_577delinsAC (p.Lys193Gln) indel not provided [RCV000722985] Chr3:58078751..58078752 [GRCh38]
Chr3:58064478..58064479 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3967A>T (p.Thr1323Ser) single nucleotide variant not provided [RCV000729126] Chr3:58125649 [GRCh38]
Chr3:58111376 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) single nucleotide variant Connective tissue disorder [RCV002279314]|FLNB-Related Spectrum Disorders [RCV001150046]|FLNB-related disorder [RCV004527629]|Inborn genetic diseases [RCV002525132]|not provided [RCV000658964]|not specified [RCV001000487] Chr3:58098759 [GRCh38]
Chr3:58084486 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4222+19A>C single nucleotide variant not provided [RCV002064254]|not specified [RCV000603220] Chr3:58126781 [GRCh38]
Chr3:58112508 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1897A>G (p.Met633Val) single nucleotide variant not provided [RCV000520662]|not specified [RCV001000684] Chr3:58106829 [GRCh38]
Chr3:58092556 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.518C>T (p.Ala173Val) single nucleotide variant Atelosteogenesis type I [RCV000006770]|not provided [RCV003318540] Chr3:58077271 [GRCh38]
Chr3:58062998 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.604A>G (p.Met202Val) single nucleotide variant Atelosteogenesis type I [RCV000006771]|Atelosteogenesis type III [RCV000006772] Chr3:58078779 [GRCh38]
Chr3:58064506 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg) single nucleotide variant Atelosteogenesis type III [RCV000006773]|not specified [RCV000508566] Chr3:58109627 [GRCh38]
Chr3:58095354 [GRCh37]
Chr3:3p14.3		 pathogenic|likely pathogenic
NM_001457.4(FLNB):c.442T>A (p.Trp148Arg) single nucleotide variant Atelosteogenesis type I [RCV000020445] Chr3:58077195 [GRCh38]
Chr3:58062922 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.4747_4749del (p.Asp1583del) deletion Atelosteogenesis type I [RCV000020447] Chr3:58136053..58136055 [GRCh38]
Chr3:58121780..58121782 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.4804T>C (p.Ser1602Pro) single nucleotide variant Atelosteogenesis type III [RCV000020449] Chr3:58136111 [GRCh38]
Chr3:58121838 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.4927G>T (p.Ala1643Ser) single nucleotide variant Atelosteogenesis type III [RCV000020451] Chr3:58138347 [GRCh38]
Chr3:58124074 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.512T>A (p.Leu171Gln) single nucleotide variant Atelosteogenesis type I [RCV000020452] Chr3:58077265 [GRCh38]
Chr3:58062992 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.542G>T (p.Gly181Val) single nucleotide variant Atelosteogenesis type I [RCV000020453] Chr3:58078717 [GRCh38]
Chr3:58064444 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.549C>G (p.Cys183Trp) single nucleotide variant Atelosteogenesis type I [RCV000020454] Chr3:58078724 [GRCh38]
Chr3:58064451 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.602C>T (p.Ala201Val) single nucleotide variant Atelosteogenesis type III [RCV000020456] Chr3:58078777 [GRCh38]
Chr3:58064504 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.608A>C (p.Gln203Pro) single nucleotide variant Atelosteogenesis type I [RCV000020457] Chr3:58078783 [GRCh38]
Chr3:58064510 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.629G>T (p.Gly210Val) single nucleotide variant Atelosteogenesis type III [RCV000020458] Chr3:58078804 [GRCh38]
Chr3:58064531 [GRCh37]
Chr3:3p14.3		 pathogenic|not provided
NM_001457.4(FLNB):c.517G>A (p.Ala173Thr) single nucleotide variant Atelosteogenesis type I [RCV000114316] Chr3:58077270 [GRCh38]
Chr3:58062997 [GRCh37]
Chr3:3p14.3		 pathogenic
GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3 copy number gain See cases [RCV000051468] Chr3:57911290..58409928 [GRCh38]
Chr3:57897017..58395655 [GRCh37]
Chr3:57872057..58370695 [NCBI36]
Chr3:3p14.3		 uncertain significance
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1		 pathogenic
NM_001457.3(FLNB):c.2229G>A (p.Gln743=) single nucleotide variant Malignant melanoma [RCV000060851] Chr3:58109605 [GRCh38]
Chr3:58095332 [GRCh37]
Chr3:58070372 [NCBI36]
Chr3:3p14.3		 not provided
NM_001457.3(FLNB):c.5167G>A (p.Gly1723Arg) single nucleotide variant Malignant melanoma [RCV000060852] Chr3:58141915 [GRCh38]
Chr3:58127642 [GRCh37]
Chr3:58102682 [NCBI36]
Chr3:3p14.3		 not provided
NM_001457.4(FLNB):c.7455C>A (p.Thr2485=) single nucleotide variant not provided [RCV000087192] Chr3:58169627 [GRCh38]
Chr3:58155354 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144012]|not provided [RCV000766994]|not specified [RCV000175418] Chr3:58118899 [GRCh38]
Chr3:58104626 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4390+8T>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000387534]|FLNB-related disorder [RCV004537406]|not provided [RCV000905799]|not specified [RCV000176541] Chr3:58130916 [GRCh38]
Chr3:58116643 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.4769T>C (p.Ile1590Thr) single nucleotide variant not provided [RCV001303641] Chr3:58136076 [GRCh38]
Chr3:58121803 [GRCh37]
Chr3:3p14.3		 likely pathogenic|uncertain significance
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145919]|not provided [RCV000974988]|not specified [RCV000176051] Chr3:58121467 [GRCh38]
Chr3:58107194 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.4759C>T (p.Arg1587Cys) single nucleotide variant not provided [RCV000722183] Chr3:58136066 [GRCh38]
Chr3:58121793 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5618A>G (p.Asp1873Gly) single nucleotide variant not provided [RCV001303504] Chr3:58146883 [GRCh38]
Chr3:58132610 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5445C>T (p.Tyr1815=) single nucleotide variant FLNB-related disorder [RCV004539659]|not provided [RCV000894989]|not specified [RCV000177734] Chr3:58145940 [GRCh38]
Chr3:58131667 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000335137]|not provided [RCV000896703]|not specified [RCV000177837] Chr3:58148246 [GRCh38]
Chr3:58133973 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr) single nucleotide variant Connective tissue disorder [RCV002277401]|FLNB-related disorder [RCV004539666]|Inborn genetic diseases [RCV002517734]|not provided [RCV000905074]|not specified [RCV000178429] Chr3:58154839 [GRCh38]
Chr3:58140566 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3336C>T (p.Leu1112=) single nucleotide variant not provided [RCV003104272] Chr3:58123302 [GRCh38]
Chr3:58109029 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3616A>G (p.Met1206Val) single nucleotide variant Atelosteogenesis type I [RCV001332006]|not provided [RCV003770839] Chr3:58123582 [GRCh38]
Chr3:58109309 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2245G>A (p.Gly749Arg) single nucleotide variant not provided [RCV001348254] Chr3:58109621 [GRCh38]
Chr3:58095348 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145812]|FLNB-related disorder [RCV004539600]|not provided [RCV000434898]|not specified [RCV000173739] Chr3:58104034 [GRCh38]
Chr3:58089761 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4061+4G>A single nucleotide variant Connective tissue disorder [RCV002277559]|FLNB-Related Spectrum Disorders [RCV001146017]|Inborn genetic diseases [RCV002517345]|not provided [RCV000727095]|not specified [RCV000202688] Chr3:58125747 [GRCh38]
Chr3:58111474 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.5258T>G (p.Phe1753Cys) single nucleotide variant not provided [RCV002057042]|not specified [RCV000202806] Chr3:58142726 [GRCh38]
Chr3:58128453 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 copy number loss See cases [RCV000139570] Chr3:57430538..64884522 [GRCh38]
Chr3:57416265..64870197 [GRCh37]
Chr3:57391305..64845237 [NCBI36]
Chr3:3p14.3-14.1		 pathogenic
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
NM_001457.4(FLNB):c.1868A>T (p.Asp623Val) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000281180]|not provided [RCV000930680]|not specified [RCV000203066] Chr3:58106800 [GRCh38]
Chr3:58092527 [GRCh37]
Chr3:3p14.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=) single nucleotide variant FLNB-related disorder [RCV004537464]|not provided [RCV000178457] Chr3:58156030 [GRCh38]
Chr3:58141757 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000350016]|not provided [RCV000178549] Chr3:58168495 [GRCh38]
Chr3:58154222 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.7301C>T (p.Thr2434Ile) single nucleotide variant not provided [RCV000178550] Chr3:58168542 [GRCh38]
Chr3:58154269 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1082G>T (p.Gly361Val) single nucleotide variant not provided [RCV000179827] Chr3:58097912 [GRCh38]
Chr3:58083639 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=) single nucleotide variant not provided [RCV000177868] Chr3:58148761 [GRCh38]
Chr3:58134488 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.*507C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000262830] Chr3:58171269 [GRCh38]
Chr3:58156996 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2931G>A (p.Leu977=) single nucleotide variant Connective tissue disorder [RCV002278558]|FLNB-Related Spectrum Disorders [RCV000263089]|not provided [RCV000928889] Chr3:58121308 [GRCh38]
Chr3:58107035 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.3240G>A (p.Pro1080=) single nucleotide variant Connective tissue disorder [RCV002278559]|FLNB-Related Spectrum Disorders [RCV000259905]|FLNB-related disorder [RCV004544646]|not provided [RCV000886783]|not specified [RCV000608750] Chr3:58123206 [GRCh38]
Chr3:58108933 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.*1370G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000259985] Chr3:58172132 [GRCh38]
Chr3:58157859 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000302850]|not provided [RCV000284450] Chr3:58125722 [GRCh38]
Chr3:58111449 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) single nucleotide variant Connective tissue disorder [RCV002278284]|FLNB-Related Spectrum Disorders [RCV000289621]|not provided [RCV000950105]|not specified [RCV000367144] Chr3:58138292 [GRCh38]
Chr3:58124019 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His) single nucleotide variant Connective tissue disorder [RCV002279511]|Inborn genetic diseases [RCV002533120]|not provided [RCV000756188] Chr3:58153522 [GRCh38]
Chr3:58139249 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2968C>T (p.Pro990Ser) single nucleotide variant not provided [RCV000757316] Chr3:58121345 [GRCh38]
Chr3:58107072 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala) single nucleotide variant FLNB-related disorder [RCV004527772]|not provided [RCV000757317] Chr3:58108521 [GRCh38]
Chr3:58094248 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4449C>T (p.Tyr1483=) single nucleotide variant not provided [RCV000757318] Chr3:58132866 [GRCh38]
Chr3:58118593 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2356C>T (p.Arg786Trp) single nucleotide variant not provided [RCV000756189] Chr3:58110042 [GRCh38]
Chr3:58095769 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4391-787T>C single nucleotide variant not specified [RCV000238675] Chr3:58132021 [GRCh38]
Chr3:58117748 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.808A>G (p.Met270Val) single nucleotide variant Atelosteogenesis type III [RCV000765752]|Connective tissue disorder [RCV002277596]|FLNB-Related Spectrum Disorders [RCV001148468]|Inborn genetic diseases [RCV002518511]|not provided [RCV000726545]|not specified [RCV000238833] Chr3:58094856 [GRCh38]
Chr3:58080583 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_001457.4(FLNB):c.7359C>T (p.Ser2453=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000395617]|not provided [RCV001515320]|not specified [RCV000243570] Chr3:58168600 [GRCh38]
Chr3:58154327 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.3163G>A (p.Val1055Met) single nucleotide variant not provided [RCV000835392]|not specified [RCV000246057] Chr3:58123129 [GRCh38]
Chr3:58108856 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.*1450G>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000273609] Chr3:58172212 [GRCh38]
Chr3:58157939 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000278508]|not provided [RCV000756186]|not specified [RCV000602590] Chr3:58163231 [GRCh38]
Chr3:58148958 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.7003G>A (p.Val2335Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000284449]|Inborn genetic diseases [RCV003168525]|not provided [RCV003718216] Chr3:58159668 [GRCh38]
Chr3:58145395 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000284746]|FLNB-related disorder [RCV004735494]|Inborn genetic diseases [RCV003243104]|not provided [RCV001812882] Chr3:58105097 [GRCh38]
Chr3:58090824 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.776C>T (p.Ala259Val) single nucleotide variant Atelosteogenesis type I [RCV001253005]|Atelosteogenesis type III [RCV001197700]|FLNB-Related Spectrum Disorders [RCV000281636]|Inborn genetic diseases [RCV004619267]|not provided [RCV001309562] Chr3:58081765 [GRCh38]
Chr3:58067492 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5134G>A (p.Val1712Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000283313]|Inborn genetic diseases [RCV002520172]|not provided [RCV001454227] Chr3:58141882 [GRCh38]
Chr3:58127609 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr) single nucleotide variant Inborn genetic diseases [RCV002518613]|not provided [RCV000943325]|not specified [RCV000253730] Chr3:58111800 [GRCh38]
Chr3:58097527 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) single nucleotide variant Atelosteogenesis type III [RCV002500882]|Connective tissue disorder [RCV002277617]|FLNB-Related Spectrum Disorders [RCV000273545]|not provided [RCV000881988]|not specified [RCV000244144] Chr3:58148778 [GRCh38]
Chr3:58134505 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1869C>T (p.Asp623=) single nucleotide variant Connective tissue disorder [RCV002277613]|FLNB-Related Spectrum Disorders [RCV000334594]|not provided [RCV001521782]|not specified [RCV000248988] Chr3:58106801 [GRCh38]
Chr3:58092528 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1611-4G>A single nucleotide variant Connective tissue disorder [RCV002277612]|FLNB-Related Spectrum Disorders [RCV000378945]|not provided [RCV001521781]|not specified [RCV000244210] Chr3:58105076 [GRCh38]
Chr3:58090803 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1384C>T (p.Leu462=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000269323]|FLNB-related disorder [RCV004530393]|not provided [RCV002520165] Chr3:58102241 [GRCh38]
Chr3:58087968 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7209G>A (p.Ser2403=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000292846]|not provided [RCV001521783]|not specified [RCV000254214] Chr3:58168450 [GRCh38]
Chr3:58154177 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.3078C>T (p.Pro1026=) single nucleotide variant Connective tissue disorder [RCV002277615]|not provided [RCV000838621]|not specified [RCV000254237] Chr3:58121455 [GRCh38]
Chr3:58107182 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4377T>C (p.Val1459=) single nucleotide variant not provided [RCV000835394]|not specified [RCV000242047] Chr3:58130895 [GRCh38]
Chr3:58116622 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) single nucleotide variant Connective tissue disorder [RCV002277618]|FLNB-Related Spectrum Disorders [RCV000376595]|Larsen syndrome [RCV000987283]|not provided [RCV000971871]|not specified [RCV000249436] Chr3:58159621 [GRCh38]
Chr3:58145348 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.292+8C>A single nucleotide variant Atelosteogenesis type III [RCV002500881]|Connective tissue disorder [RCV002277614]|FLNB-Related Spectrum Disorders [RCV000286112]|not provided [RCV000956108]|not specified [RCV000249458] Chr3:58008864 [GRCh38]
Chr3:57994591 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4173A>G (p.Ala1391=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000296871]|not provided [RCV001515318]|not specified [RCV000242336] Chr3:58126713 [GRCh38]
Chr3:58112440 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.6889-18G>A single nucleotide variant not provided [RCV002058048]|not specified [RCV000244703] Chr3:58159536 [GRCh38]
Chr3:58145263 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.292+14C>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145703]|not provided [RCV001812706]|not specified [RCV000244732] Chr3:58008870 [GRCh38]
Chr3:57994597 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4221C>T (p.Pro1407=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000277932]|not provided [RCV001515319]|not specified [RCV000247133] Chr3:58126761 [GRCh38]
Chr3:58112488 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.6680C>G (p.Ser2227Cys) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000363293]|not provided [RCV000960837]|not specified [RCV000247300] Chr3:58154836 [GRCh38]
Chr3:58140563 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4062-5T>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000262755]|not provided [RCV000961127]|not specified [RCV000249760] Chr3:58126597 [GRCh38]
Chr3:58112324 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.3857C>T (p.Ala1286Val) single nucleotide variant Connective tissue disorder [RCV002277616]|FLNB-Related Spectrum Disorders [RCV000306022]|not provided [RCV000946746]|not specified [RCV000245004] Chr3:58124464 [GRCh38]
Chr3:58110191 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.3469G>A (p.Asp1157Asn) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000333788]|not provided [RCV001520203]|not specified [RCV000250004] Chr3:58123435 [GRCh38]
Chr3:58109162 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.5646G>A (p.Pro1882=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000301123]|not provided [RCV000974989]|not specified [RCV000252352] Chr3:58146911 [GRCh38]
Chr3:58132638 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.4411G>A (p.Val1471Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000271883]|not provided [RCV001520204]|not specified [RCV000247641] Chr3:58132828 [GRCh38]
Chr3:58118555 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4362G>A (p.Pro1454=) single nucleotide variant not provided [RCV000835393]|not specified [RCV000250273] Chr3:58130880 [GRCh38]
Chr3:58116607 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.669G>A (p.Pro223=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000397068]|not provided [RCV000973340]|not specified [RCV000252872] Chr3:58081658 [GRCh38]
Chr3:58067385 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.927T>C (p.Ser309=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000367630]|not provided [RCV001519701]|not specified [RCV000248165] Chr3:58096161 [GRCh38]
Chr3:58081888 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.6438G>A (p.Val2146=) single nucleotide variant Connective tissue disorder [RCV002278564]|FLNB-Related Spectrum Disorders [RCV000272303]|not provided [RCV000946747]|not specified [RCV000435080] Chr3:58153445 [GRCh38]
Chr3:58139172 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) single nucleotide variant not provided [RCV000444981]|not specified [RCV000253218] Chr3:58077115 [GRCh38]
Chr3:58062842 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.2575+12C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000266850]|not provided [RCV003766000] Chr3:58111893 [GRCh38]
Chr3:58097620 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1278C>T (p.His426=) single nucleotide variant Connective tissue disorder [RCV002278554]|FLNB-Related Spectrum Disorders [RCV000273153]|not provided [RCV000901810] Chr3:58098841 [GRCh38]
Chr3:58084568 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.5916C>T (p.Gly1972=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000313542]|not provided [RCV000921830] Chr3:58148677 [GRCh38]
Chr3:58134404 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.-103A>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000332536] Chr3:58008462 [GRCh38]
Chr3:57994189 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3138C>T (p.His1046=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000372962]|not provided [RCV002057892] Chr3:58123104 [GRCh38]
Chr3:58108831 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.825C>T (p.Ala275=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000397067]|not provided [RCV003765999] Chr3:58094873 [GRCh38]
Chr3:58080600 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.-131G>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000353683] Chr3:58008434 [GRCh38]
Chr3:57994161 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1748-5C>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000375587]|not provided [RCV001471536] Chr3:58106675 [GRCh38]
Chr3:58092402 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5816C>T (p.Thr1939Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000399022]|not provided [RCV000924030] Chr3:58148293 [GRCh38]
Chr3:58134020 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.*581C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000315734]|not provided [RCV004716092] Chr3:58171343 [GRCh38]
Chr3:58157070 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.7120C>T (p.Arg2374Cys) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000335866]|Inborn genetic diseases [RCV004619268]|not provided [RCV001753814] Chr3:58163252 [GRCh38]
Chr3:58148979 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000355302]|FLNB-related disorder [RCV004530395]|Inborn genetic diseases [RCV003168524]|not provided [RCV000726907] Chr3:58125740 [GRCh38]
Chr3:58111467 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.864C>T (p.Asp288=) single nucleotide variant Connective tissue disorder [RCV002278553]|FLNB-Related Spectrum Disorders [RCV000400147]|FLNB-related disorder [RCV004544645]|not provided [RCV002057890] Chr3:58094912 [GRCh38]
Chr3:58080639 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.792C>T (p.Ile264=) single nucleotide variant Connective tissue disorder [RCV002278552]|FLNB-Related Spectrum Disorders [RCV000336629]|not provided [RCV000961442]|not specified [RCV000441685] Chr3:58094840 [GRCh38]
Chr3:58080567 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.*479G>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000355345] Chr3:58171241 [GRCh38]
Chr3:58156968 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.7041C>A (p.Phe2347Leu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000318213]|not provided [RCV001501379] Chr3:58163173 [GRCh38]
Chr3:58148900 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2935G>A (p.Val979Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000318295]|FLNB-related disorder [RCV004530394]|not provided [RCV002057891]|not specified [RCV000608808] Chr3:58121312 [GRCh38]
Chr3:58107039 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.*1361G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000357178] Chr3:58172123 [GRCh38]
Chr3:58157850 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2908G>A (p.Gly970Arg) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000357825] Chr3:58121285 [GRCh38]
Chr3:58107012 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.249G>A (p.Ala83=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000380472]|not provided [RCV000756190]|not specified [RCV000599823] Chr3:58008813 [GRCh38]
Chr3:57994540 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.5091C>T (p.Asn1697=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000380200]|not provided [RCV000884706]|not specified [RCV000611464] Chr3:58138511 [GRCh38]
Chr3:58124238 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.5426-10G>A single nucleotide variant Atelosteogenesis type III [RCV002504158]|Connective tissue disorder [RCV002278563]|FLNB-Related Spectrum Disorders [RCV000402574]|not provided [RCV000884707]|not specified [RCV000599972] Chr3:58145911 [GRCh38]
Chr3:58131638 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4766T>A (p.Met1589Lys) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000381626]|not provided [RCV002520171] Chr3:58136073 [GRCh38]
Chr3:58121800 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7167C>T (p.Ala2389=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000404152]|not provided [RCV001499101] Chr3:58163299 [GRCh38]
Chr3:58149026 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.-4C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000289514] Chr3:58008561 [GRCh38]
Chr3:57994288 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*200C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000304766]|not provided [RCV001712133] Chr3:58170962 [GRCh38]
Chr3:58156689 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1688T>C (p.Ile563Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000321081]|not provided [RCV002523451]|not specified [RCV003987517] Chr3:58105157 [GRCh38]
Chr3:58090884 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.*1217G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000339645] Chr3:58171979 [GRCh38]
Chr3:58157706 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.-31C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000383749]|not provided [RCV000757313]|not specified [RCV000435017] Chr3:58008534 [GRCh38]
Chr3:57994261 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.*1030G>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000405717]|not provided [RCV004717486] Chr3:58171792 [GRCh38]
Chr3:58157519 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) single nucleotide variant Atelosteogenesis type III [RCV002502328]|Connective tissue disorder [RCV002278555]|FLNB-Related Spectrum Disorders [RCV000405532]|not provided [RCV000514173]|not specified [RCV000600234] Chr3:58106851 [GRCh38]
Chr3:58092578 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.3724+13_3724+15del deletion FLNB-Related Spectrum Disorders [RCV000290637]|not provided [RCV001555305] Chr3:58123703..58123705 [GRCh38]
Chr3:58109430..58109432 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.*1122T>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000305740]|not provided [RCV004716094] Chr3:58171884 [GRCh38]
Chr3:58157611 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.*395A>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000321616] Chr3:58171157 [GRCh38]
Chr3:58156884 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2907G>A (p.Arg969=) single nucleotide variant Connective tissue disorder [RCV002278557]|FLNB-Related Spectrum Disorders [RCV000321969]|not provided [RCV000946745]|not specified [RCV000606267] Chr3:58121284 [GRCh38]
Chr3:58107011 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.2529C>T (p.His843=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000361486]|not provided [RCV003105879] Chr3:58111835 [GRCh38]
Chr3:58097562 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.*255G>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000361819] Chr3:58171017 [GRCh38]
Chr3:58156744 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3608C>T (p.Thr1203Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000384958]|Inborn genetic diseases [RCV002520168] Chr3:58123574 [GRCh38]
Chr3:58109301 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2523T>G (p.Pro841=) single nucleotide variant Atelosteogenesis type III [RCV002502329]|Connective tissue disorder [RCV002278556]|FLNB-Related Spectrum Disorders [RCV000306771]|not provided [RCV000912005] Chr3:58111829 [GRCh38]
Chr3:58097556 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.5042C>G (p.Pro1681Arg) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000341940]|Inborn genetic diseases [RCV004021925]|not provided [RCV002523452] Chr3:58138462 [GRCh38]
Chr3:58124189 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.7534G>A (p.Ala2512Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000362857]|Inborn genetic diseases [RCV004021926]|not provided [RCV001753815] Chr3:58169706 [GRCh38]
Chr3:58155433 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.*657T>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000386315] Chr3:58171419 [GRCh38]
Chr3:58157146 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.6755A>T (p.Tyr2252Phe) single nucleotide variant Connective tissue disorder [RCV002278565]|FLNB-Related Spectrum Disorders [RCV000324232]|FLNB-related disorder [RCV004530398]|Inborn genetic diseases [RCV002520175]|not provided [RCV002057893] Chr3:58154911 [GRCh38]
Chr3:58140638 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1409G>A (p.Arg470Gln) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000324384]|not provided [RCV001850836] Chr3:58102266 [GRCh38]
Chr3:58087993 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2187C>T (p.His729=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000364489]|not provided [RCV002520166] Chr3:58109310 [GRCh38]
Chr3:58095037 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6244+4T>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000364531]|Inborn genetic diseases [RCV002520174]|not provided [RCV000972705] Chr3:58150006 [GRCh38]
Chr3:58135733 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.-95C>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000387265] Chr3:58008470 [GRCh38]
Chr3:57994197 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3535G>A (p.Glu1179Lys) single nucleotide variant Connective tissue disorder [RCV002278560]|FLNB-Related Spectrum Disorders [RCV000293937]|not provided [RCV000956109]|not specified [RCV000427861] Chr3:58123501 [GRCh38]
Chr3:58109228 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.6531C>T (p.Thr2177=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000324900]|FLNB-related disorder [RCV004530397]|not provided [RCV002061233] Chr3:58153538 [GRCh38]
Chr3:58139265 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.233A>G (p.Glu78Gly) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000325786]|not provided [RCV002520164] Chr3:58008797 [GRCh38]
Chr3:57994524 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3515C>T (p.Ser1172Leu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000388242]|not provided [RCV002520167] Chr3:58123481 [GRCh38]
Chr3:58109208 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*675G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000294395]|not provided [RCV004716093] Chr3:58171437 [GRCh38]
Chr3:58157164 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.*592C>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000294548] Chr3:58171354 [GRCh38]
Chr3:58157081 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.2136G>A (p.Lys712=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000309835]|not provided [RCV000939934] Chr3:58109259 [GRCh38]
Chr3:58094986 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3724+36del deletion FLNB-Related Spectrum Disorders [RCV000345584]|not provided [RCV002520169]|not specified [RCV000479002] Chr3:58123704 [GRCh38]
Chr3:58109431 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.2035C>T (p.Pro679Ser) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000294860]|not provided [RCV001850837] Chr3:58108551 [GRCh38]
Chr3:58094278 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_001457.4(FLNB):c.7487C>T (p.Ser2496Leu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000310517] Chr3:58169659 [GRCh38]
Chr3:58155386 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1290C>G (p.Ile430Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000328245]|not provided [RCV001764312] Chr3:58098853 [GRCh38]
Chr3:58084580 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.*719G>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000347056] Chr3:58171481 [GRCh38]
Chr3:58157208 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4590T>C (p.Tyr1530=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000329350]|FLNB-related disorder [RCV004544647]|not provided [RCV000973234] Chr3:58134691 [GRCh38]
Chr3:58120418 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met) single nucleotide variant Atelosteogenesis type III [RCV002502330]|Connective tissue disorder [RCV002278561]|FLNB-Related Spectrum Disorders [RCV000349068]|not provided [RCV000915285] Chr3:58123549 [GRCh38]
Chr3:58109276 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4185C>T (p.Tyr1395=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000370208]|not provided [RCV002520170] Chr3:58126725 [GRCh38]
Chr3:58112452 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6108C>T (p.Ser2036=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000312223]|FLNB-related disorder [RCV004530396]|not provided [RCV002520173] Chr3:58149866 [GRCh38]
Chr3:58135593 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4319T>C (p.Leu1440Pro) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000330717] Chr3:58130837 [GRCh38]
Chr3:58116564 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2055+4A>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000349845] Chr3:58108575 [GRCh38]
Chr3:58094302 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys) single nucleotide variant Atelosteogenesis type III [RCV002487523]|FLNB-Related Spectrum Disorders [RCV000370591]|not provided [RCV003546541] Chr3:58148678 [GRCh38]
Chr3:58134405 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3771G>A (p.Pro1257=) single nucleotide variant Connective tissue disorder [RCV002278562]|FLNB-Related Spectrum Disorders [RCV000394277]|not provided [RCV000882147]|not specified [RCV000441830] Chr3:58124378 [GRCh38]
Chr3:58110105 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4006C>T (p.Pro1336Ser) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000394426] Chr3:58125688 [GRCh38]
Chr3:58111415 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*1233T>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000394752] Chr3:58171995 [GRCh38]
Chr3:58157722 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000395165]|not provided [RCV000883117]|not specified [RCV000591638] Chr3:58110068 [GRCh38]
Chr3:58095795 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.852C>T (p.Ala284=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000298007]|FLNB-related disorder [RCV004544644]|not provided [RCV001502029] Chr3:58094900 [GRCh38]
Chr3:58080627 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.865G>A (p.Val289Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000312999] Chr3:58094913 [GRCh38]
Chr3:58080640 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7749G>A (p.Leu2583=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000395674]|FLNB-related disorder [RCV004530399]|not provided [RCV002057894] Chr3:58170702 [GRCh38]
Chr3:58156429 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.2654A>G (p.Asn885Ser) single nucleotide variant not provided [RCV000301979] Chr3:58112227 [GRCh38]
Chr3:58097954 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6497C>T (p.Thr2166Met) single nucleotide variant not provided [RCV000337485] Chr3:58153504 [GRCh38]
Chr3:58139231 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150459]|FLNB-related disorder [RCV004542993]|Inborn genetic diseases [RCV004021089]|not provided [RCV000305357] Chr3:58148808 [GRCh38]
Chr3:58134535 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150457]|not provided [RCV000724897] Chr3:58148764 [GRCh38]
Chr3:58134491 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148704]|FLNB-related disorder [RCV004535351]|not provided [RCV000274707] Chr3:58123254 [GRCh38]
Chr3:58108981 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.720C>T (p.Ala240=) single nucleotide variant not provided [RCV000757314]|not specified [RCV000309159] Chr3:58081709 [GRCh38]
Chr3:58067436 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala) single nucleotide variant Atelosteogenesis type III [RCV000764513]|FLNB-Related Spectrum Disorders [RCV001150331]|not provided [RCV000309759] Chr3:58132808 [GRCh38]
Chr3:58118535 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2965G>A (p.Val989Met) single nucleotide variant not provided [RCV000278814] Chr3:58121342 [GRCh38]
Chr3:58107069 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146264]|not provided [RCV000904560]|not specified [RCV000312160] Chr3:58154798 [GRCh38]
Chr3:58140525 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1472T>C (p.Met491Thr) single nucleotide variant FLNB-related disorder [RCV004543108]|Inborn genetic diseases [RCV002518004]|not provided [RCV000757315]|not specified [RCV000383534] Chr3:58102329 [GRCh38]
Chr3:58088056 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.492C>G (p.Asn164Lys) single nucleotide variant not provided [RCV000314947] Chr3:58077245 [GRCh38]
Chr3:58062972 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.871G>A (p.Val291Met) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV001028026]|not provided [RCV000388042] Chr3:58094919 [GRCh38]
Chr3:58080646 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.-81G>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000274178] Chr3:58008484 [GRCh38]
Chr3:57994211 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148579]|Inborn genetic diseases [RCV002519308]|not provided [RCV000353068] Chr3:58108462 [GRCh38]
Chr3:58094189 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6154C>T (p.Leu2052=) single nucleotide variant not provided [RCV000287465] Chr3:58149912 [GRCh38]
Chr3:58135639 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1212G>A (p.Leu404=) single nucleotide variant not provided [RCV000355162] Chr3:58098775 [GRCh38]
Chr3:58084502 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*262C>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000264147] Chr3:58171024 [GRCh38]
Chr3:58156751 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) single nucleotide variant Connective tissue disorder [RCV002278316]|FLNB-Related Spectrum Disorders [RCV001144362]|FLNB-related disorder [RCV004535417]|not provided [RCV000962980]|not specified [RCV000322568] Chr3:58149989 [GRCh38]
Chr3:58135716 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146266]|not provided [RCV000904561]|not specified [RCV000357772] Chr3:58154840 [GRCh38]
Chr3:58140567 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3144C>T (p.Pro1048=) single nucleotide variant not provided [RCV000292104] Chr3:58123110 [GRCh38]
Chr3:58108837 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln) single nucleotide variant FLNB-related disorder [RCV004543044]|not provided [RCV000292618] Chr3:58130825 [GRCh38]
Chr3:58116552 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.-107T>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000277475] Chr3:58008458 [GRCh38]
Chr3:57994185 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6689T>C (p.Val2230Ala) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000266786] Chr3:58154845 [GRCh38]
Chr3:58140572 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6367+7G>C single nucleotide variant not provided [RCV000299943]|not specified [RCV003401253] Chr3:58150234 [GRCh38]
Chr3:58135961 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.5043G>A (p.Pro1681=) single nucleotide variant FLNB-related disorder [RCV004542987]|not provided [RCV000404455] Chr3:58138463 [GRCh38]
Chr3:58124190 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6616G>T (p.Gly2206Ter) single nucleotide variant not provided [RCV000261356] Chr3:58153623 [GRCh38]
Chr3:58139350 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) single nucleotide variant Connective tissue disorder [RCV002278285]|FLNB-Related Spectrum Disorders [RCV001144008]|not provided [RCV000897347]|not specified [RCV000370279] Chr3:58111799 [GRCh38]
Chr3:58097526 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.2474T>C (p.Phe825Ser) single nucleotide variant not provided [RCV000722585] Chr3:58110160 [GRCh38]
Chr3:58095887 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3898+172C>T single nucleotide variant not provided [RCV001545028] Chr3:58124677 [GRCh38]
Chr3:58110404 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7640T>C (p.Ile2547Thr) single nucleotide variant not provided [RCV000722290] Chr3:58170593 [GRCh38]
Chr3:58156320 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2297C>T (p.Thr766Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001270838]|not provided [RCV002537742] Chr3:58109673 [GRCh38]
Chr3:58095400 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2501C>T (p.Pro834Leu) single nucleotide variant not provided [RCV003239191] Chr3:58111807 [GRCh38]
Chr3:58097534 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*1003A>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000345826] Chr3:58171765 [GRCh38]
Chr3:58157492 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1373G>A (p.Ser458Asn) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000363991] Chr3:58102230 [GRCh38]
Chr3:58087957 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*653G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000334202] Chr3:58171415 [GRCh38]
Chr3:58157142 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*990T>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000404877] Chr3:58171752 [GRCh38]
Chr3:58157479 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*1427G>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000369954] Chr3:58172189 [GRCh38]
Chr3:58157916 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.853G>A (p.Gly285Arg) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000371256] Chr3:58094901 [GRCh38]
Chr3:58080628 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*582G>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000372578] Chr3:58171344 [GRCh38]
Chr3:58157071 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*1393G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000298821] Chr3:58172155 [GRCh38]
Chr3:58157882 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*990T>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV000288539] Chr3:58171752 [GRCh38]
Chr3:58157479 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*1278A>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV000299873] Chr3:58172040 [GRCh38]
Chr3:58157767 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5303C>T (p.Ser1768Phe) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000340694] Chr3:58143491 [GRCh38]
Chr3:58129218 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.544C>T (p.Leu182=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000341076] Chr3:58078719 [GRCh38]
Chr3:58064446 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7065C>T (p.His2355=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000375202]|not provided [RCV002520176] Chr3:58163197 [GRCh38]
Chr3:58148924 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5887+8A>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148938]|not provided [RCV000923738]|not specified [RCV000600144] Chr3:58148372 [GRCh38]
Chr3:58134099 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.3881A>G (p.Tyr1294Cys) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000342207] Chr3:58124488 [GRCh38]
Chr3:58110215 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2097G>C (p.Arg699=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000395168] Chr3:58109220 [GRCh38]
Chr3:58094947 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.-76C>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV000329113] Chr3:58008489 [GRCh38]
Chr3:57994216 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7198+20C>G single nucleotide variant not provided [RCV002065409]|not specified [RCV000600505] Chr3:58163350 [GRCh38]
Chr3:58149077 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.5967C>T (p.Pro1989=) single nucleotide variant not provided [RCV000592164] Chr3:58148728 [GRCh38]
Chr3:58134455 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3163G>T (p.Val1055Leu) single nucleotide variant not provided [RCV000598522] Chr3:58123129 [GRCh38]
Chr3:58108856 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144130]|FLNB-related disorder [RCV004530691]|not provided [RCV000593544]|not specified [RCV001000061] Chr3:58123560 [GRCh38]
Chr3:58109287 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4172_4173inv (p.Ala1391Val) inversion FLNB-related disorder [RCV004535802]|not provided [RCV000722583] Chr3:58126712..58126713 [GRCh38]
Chr3:58112439..58112440 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2586T>G (p.Asn862Lys) single nucleotide variant not provided [RCV000731963] Chr3:58112159 [GRCh38]
Chr3:58097886 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1346C>T (p.Ala449Val) single nucleotide variant not provided [RCV000733138] Chr3:58102203 [GRCh38]
Chr3:58087930 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) single nucleotide variant Connective tissue disorder [RCV002279502]|FLNB-Related Spectrum Disorders [RCV001148702]|not provided [RCV000756182]|not specified [RCV000728897] Chr3:58123230 [GRCh38]
Chr3:58108957 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1303G>A (p.Asp435Asn) single nucleotide variant Inborn genetic diseases [RCV002533096]|not provided [RCV000729045] Chr3:58098866 [GRCh38]
Chr3:58084593 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp) single nucleotide variant Atelosteogenesis type III [RCV002480263]|Inborn genetic diseases [RCV002523908]|not provided [RCV000412741] Chr3:58104063 [GRCh38]
Chr3:58089790 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3826G>T (p.Ala1276Ser) single nucleotide variant not provided [RCV000731905] Chr3:58124433 [GRCh38]
Chr3:58110160 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.572C>T (p.Pro191Leu) single nucleotide variant Atelosteogenesis type III [RCV001196906]|not provided [RCV000413979] Chr3:58078747 [GRCh38]
Chr3:58064474 [GRCh37]
Chr3:3p14.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.282C>T (p.Leu94=) single nucleotide variant Connective tissue disorder [RCV002279191]|FLNB-related disorder [RCV004533059]|not provided [RCV002059647]|not specified [RCV000434212] Chr3:58008846 [GRCh38]
Chr3:57994573 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4222+8A>G single nucleotide variant Connective tissue disorder [RCV002278672]|FLNB-Related Spectrum Disorders [RCV001150328]|not provided [RCV000880525]|not specified [RCV000441333] Chr3:58126770 [GRCh38]
Chr3:58112497 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1101A>G (p.Val367=) single nucleotide variant not provided [RCV001704318] Chr3:58097931 [GRCh38]
Chr3:58083658 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4672-11A>G single nucleotide variant not provided [RCV002522498]|not specified [RCV000419106] Chr3:58135968 [GRCh38]
Chr3:58121695 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.3169A>C (p.Lys1057Gln) single nucleotide variant Connective tissue disorder [RCV002279196]|FLNB-Related Spectrum Disorders [RCV001148701]|FLNB-related disorder [RCV004533071]|Inborn genetic diseases [RCV004619289]|not provided [RCV000756183] Chr3:58123135 [GRCh38]
Chr3:58108862 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1679A>G (p.His560Arg) single nucleotide variant Inborn genetic diseases [RCV002522689]|Spondylocarpotarsal synostosis syndrome [RCV004720256]|not provided [RCV000443161] Chr3:58105148 [GRCh38]
Chr3:58090875 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.982A>G (p.Lys328Glu) single nucleotide variant not provided [RCV000419435] Chr3:58096216 [GRCh38]
Chr3:58081943 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4066G>A (p.Ala1356Thr) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV004720257]|not provided [RCV000425923] Chr3:58126606 [GRCh38]
Chr3:58112333 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4281C>T (p.Ala1427=) single nucleotide variant not provided [RCV001422606]|not specified [RCV000429833] Chr3:58130799 [GRCh38]
Chr3:58116526 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.292+12G>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145702]|not provided [RCV002061651]|not specified [RCV000436702] Chr3:58008868 [GRCh38]
Chr3:57994595 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150152]|FLNB-related disorder [RCV004533087]|not provided [RCV000443937] Chr3:58110139 [GRCh38]
Chr3:58095866 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1781T>C (p.Ile594Thr) single nucleotide variant FLNB-related disorder [RCV004529575]|not provided [RCV000433239] Chr3:58106713 [GRCh38]
Chr3:58092440 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1534G>A (p.Ala512Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001143920]|not provided [RCV000937432]|not specified [RCV000433320] Chr3:58104009 [GRCh38]
Chr3:58089736 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.7255G>A (p.Val2419Ile) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144475]|FLNB-related disorder [RCV004533049]|not provided [RCV000973023] Chr3:58168496 [GRCh38]
Chr3:58154223 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150329]|FLNB-related disorder [RCV004735506]|not provided [RCV001530064] Chr3:58130751 [GRCh38]
Chr3:58116478 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6315C>T (p.Ala2105=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144364]|not provided [RCV000923324] Chr3:58150175 [GRCh38]
Chr3:58135902 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg) single nucleotide variant Connective tissue disorder [RCV002279237]|not provided [RCV000731237] Chr3:58149931 [GRCh38]
Chr3:58135658 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3661A>G (p.Lys1221Glu) single nucleotide variant not provided [RCV000484723] Chr3:58123627 [GRCh38]
Chr3:58109354 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.5454C>A (p.Tyr1818Ter) single nucleotide variant not provided [RCV000486409] Chr3:58145949 [GRCh38]
Chr3:58131676 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn) single nucleotide variant Connective tissue disorder [RCV002279238]|FLNB-Related Spectrum Disorders [RCV001144241]|FLNB-related disorder [RCV004535502]|Inborn genetic diseases [RCV002525789]|not provided [RCV000898628] Chr3:58132912 [GRCh38]
Chr3:58118639 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.3(FLNB):c.3724+14delA deletion not specified [RCV000479002] Chr3:58123704 [GRCh38]
Chr3:58109431 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4859C>A (p.Thr1620Lys) single nucleotide variant FLNB-related disorder [RCV000509290] Chr3:58136166 [GRCh38]
Chr3:58121893 [GRCh37]
Chr3:3p14.3		 not provided
NM_001457.4(FLNB):c.1082G>A (p.Gly361Asp) single nucleotide variant Larsen syndrome [RCV002468583]|not provided [RCV000497355] Chr3:58097912 [GRCh38]
Chr3:58083639 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.107G>A (p.Arg36His) single nucleotide variant Connective tissue disorder [RCV002279289]|FLNB-related disorder [RCV004541582]|not provided [RCV000888529]|not specified [RCV000508479] Chr3:58008671 [GRCh38]
Chr3:57994398 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.1216G>A (p.Val406Met) single nucleotide variant not specified [RCV000506277] Chr3:58098779 [GRCh38]
Chr3:58084506 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144011]|not provided [RCV001350518]|not specified [RCV000506355] Chr3:58112217 [GRCh38]
Chr3:58097944 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4717G>A (p.Asp1573Asn) single nucleotide variant not provided [RCV002527354]|not specified [RCV000507279] Chr3:58136024 [GRCh38]
Chr3:58121751 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln) single nucleotide variant not provided [RCV000507555] Chr3:58109219 [GRCh38]
Chr3:58094946 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) single nucleotide variant Abnormality of the skeletal system [RCV001814201]|Larsen syndrome [RCV000625945]|not provided [RCV001860468] Chr3:58138492 [GRCh38]
Chr3:58124219 [GRCh37]
Chr3:3p14.3		 pathogenic|likely pathogenic|uncertain significance
NM_001457.4(FLNB):c.6072C>T (p.Ile2024=) single nucleotide variant FLNB-related disorder [RCV004530758]|not provided [RCV000941792] Chr3:58148833 [GRCh38]
Chr3:58134560 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.762G>A (p.Pro254=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145706]|not provided [RCV002063139]|not specified [RCV000604566] Chr3:58081751 [GRCh38]
Chr3:58067478 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7360G>A (p.Val2454Ile) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144477]|not provided [RCV000913861] Chr3:58168601 [GRCh38]
Chr3:58154328 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1128C>T (p.Tyr376=) single nucleotide variant not provided [RCV003312582] Chr3:58097958 [GRCh38]
Chr3:58083685 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.274A>G (p.Ile92Val) single nucleotide variant FLNB-related disorder [RCV004543411]|not provided [RCV000897835] Chr3:58008838 [GRCh38]
Chr3:57994565 [GRCh37]
Chr3:3p14.3		 benign|likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001457.4(FLNB):c.5037C>T (p.Ala1679=) single nucleotide variant not provided [RCV002528636]|not specified [RCV000601748] Chr3:58138457 [GRCh38]
Chr3:58124184 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4594G>A (p.Val1532Met) single nucleotide variant Inborn genetic diseases [RCV003261758] Chr3:58134695 [GRCh38]
Chr3:58120422 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001457.4(FLNB):c.3981G>A (p.Gln1327=) single nucleotide variant not provided [RCV002063911]|not specified [RCV000609560] Chr3:58125663 [GRCh38]
Chr3:58111390 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3753T>C (p.Phe1251=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144132]|not provided [RCV002063179]|not specified [RCV000612341] Chr3:58124360 [GRCh38]
Chr3:58110087 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6666C>T (p.Gly2222=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146265]|not provided [RCV001503190]|not specified [RCV000615242] Chr3:58154822 [GRCh38]
Chr3:58140549 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5181+17T>C single nucleotide variant not provided [RCV003767640]|not specified [RCV000615786] Chr3:58141946 [GRCh38]
Chr3:58127673 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7530G>A (p.Ser2510=) single nucleotide variant not provided [RCV002064311]|not specified [RCV000610221] Chr3:58169702 [GRCh38]
Chr3:58155429 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7164C>T (p.Ser2388=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150563]|FLNB-related disorder [RCV004544737]|not provided [RCV002063152]|not specified [RCV000616078] Chr3:58163296 [GRCh38]
Chr3:58149023 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4515-24GT[4] microsatellite FLNB-related disorder [RCV004543339]|not provided [RCV000838627]|not specified [RCV000596384] Chr3:58134592..58134599 [GRCh38]
Chr3:58120327..58120334 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1044C>T (p.Asp348=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150043]|not provided [RCV000903729]|not specified [RCV000596553] Chr3:58097874 [GRCh38]
Chr3:58083601 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.541+15C>T single nucleotide variant not provided [RCV002064343]|not specified [RCV000610264] Chr3:58077309 [GRCh38]
Chr3:58063036 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.787+14C>T single nucleotide variant not specified [RCV000610381] Chr3:58081790 [GRCh38]
Chr3:58067517 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1704G>A (p.Ala568=) single nucleotide variant not provided [RCV000907159]|not specified [RCV000602247] Chr3:58105173 [GRCh38]
Chr3:58090900 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4671+5C>G single nucleotide variant not provided [RCV002528697]|not specified [RCV000613533] Chr3:58134777 [GRCh38]
Chr3:58120504 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5696T>A (p.Ile1899Asn) single nucleotide variant Atelosteogenesis type III [RCV003314401] Chr3:58146961 [GRCh38]
Chr3:58132688 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.9A>G (p.Val3=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145588]|FLNB-related disorder [RCV004544785]|not provided [RCV002066658]|not specified [RCV000613950] Chr3:58008573 [GRCh38]
Chr3:57994300 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6741G>A (p.Ser2247=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146268]|not provided [RCV000974444] Chr3:58154897 [GRCh38]
Chr3:58140624 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4287C>T (p.Pro1429=) single nucleotide variant not provided [RCV002531651]|not specified [RCV000604502] Chr3:58130805 [GRCh38]
Chr3:58116532 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=) single nucleotide variant Connective tissue disorder [RCV002279373]|FLNB-Related Spectrum Disorders [RCV001144245]|FLNB-related disorder [RCV004735644]|not provided [RCV000756184]|not specified [RCV000595755] Chr3:58138349 [GRCh38]
Chr3:58124076 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2919C>T (p.Gly973=) single nucleotide variant not provided [RCV000512741] Chr3:58121296 [GRCh38]
Chr3:58107023 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5220C>T (p.Asn1740=) single nucleotide variant not provided [RCV000513087] Chr3:58142688 [GRCh38]
Chr3:58128415 [GRCh37]
Chr3:3p14.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2332A>G (p.Ser778Gly) single nucleotide variant Severe postnatal growth retardation [RCV000627040] Chr3:58110018 [GRCh38]
Chr3:58095745 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3767G>A (p.Arg1256Gln) single nucleotide variant Inborn genetic diseases [RCV002534306]|not provided [RCV000658965] Chr3:58124374 [GRCh38]
Chr3:58110101 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3446_3455del (p.Gly1149fs) deletion Spondylocarpotarsal synostosis syndrome [RCV000677697] Chr3:58123409..58123418 [GRCh38]
Chr3:58109136..58109145 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs) deletion Spondylocarpotarsal synostosis syndrome [RCV000677698] Chr3:58136073..58136076 [GRCh38]
Chr3:58121800..58121803 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.199C>T (p.His67Tyr) single nucleotide variant Boomerang dysplasia [RCV000714844]|Larsen syndrome [RCV000714843] Chr3:58008763 [GRCh38]
Chr3:57994490 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del) deletion Patellar hypoplasia [RCV000735862]|not provided [RCV001869012] Chr3:58143562..58143564 [GRCh38]
Chr3:58129289..58129291 [GRCh37]
Chr3:3p14.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1321C>T (p.Pro441Ser) single nucleotide variant not provided [RCV000723262] Chr3:58098884 [GRCh38]
Chr3:58084611 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4391-645C>T single nucleotide variant not provided [RCV001548546] Chr3:58132163 [GRCh38]
Chr3:58117890 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2642A>G (p.Asn881Ser) single nucleotide variant not specified [RCV001002117] Chr3:58112215 [GRCh38]
Chr3:58097942 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001457.4(FLNB):c.4390+113A>T single nucleotide variant not provided [RCV001571231] Chr3:58131021 [GRCh38]
Chr3:58116748 [GRCh37]
Chr3:3p14.3		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p14.3-14.2(chr3:58089516-58799748)x3 copy number gain not provided [RCV000742425] Chr3:58089516..58799748 [GRCh37]
Chr3:3p14.3-14.2		 benign
NM_001457.4(FLNB):c.1433A>G (p.Asp478Gly) single nucleotide variant not provided [RCV001531575] Chr3:58102290 [GRCh38]
Chr3:58088017 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5285-168del deletion not provided [RCV001612227] Chr3:58143294 [GRCh38]
Chr3:58129021 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5426-50G>A single nucleotide variant not provided [RCV001583445] Chr3:58145871 [GRCh38]
Chr3:58131598 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.605T>C (p.Met202Thr) single nucleotide variant not provided [RCV001596855] Chr3:58078780 [GRCh38]
Chr3:58064507 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4640C>A (p.Ala1547Asp) single nucleotide variant not provided [RCV001596911] Chr3:58134741 [GRCh38]
Chr3:58120468 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4391-811G>A single nucleotide variant not provided [RCV001612607] Chr3:58131997 [GRCh38]
Chr3:58117724 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3762C>G (p.Asp1254Glu) single nucleotide variant not provided [RCV001597466] Chr3:58124369 [GRCh38]
Chr3:58110096 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4395G>C (p.Leu1465Phe) single nucleotide variant not provided [RCV001597511] Chr3:58132812 [GRCh38]
Chr3:58118539 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1346-1358_1941+403del deletion Spondylocarpotarsal synostosis syndrome [RCV001580583] Chr3:58100831..58107262 [GRCh38]
Chr3:58086558..58092989 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.906+267T>G single nucleotide variant not provided [RCV001546368] Chr3:58095221 [GRCh38]
Chr3:58080948 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5555-279G>A single nucleotide variant not provided [RCV001547057] Chr3:58146541 [GRCh38]
Chr3:58132268 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2323+73T>C single nucleotide variant not provided [RCV001574902] Chr3:58109772 [GRCh38]
Chr3:58095499 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2637G>C (p.Pro879=) single nucleotide variant not provided [RCV001586402] Chr3:58112210 [GRCh38]
Chr3:58097937 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2922G>A (p.Gln974=) single nucleotide variant not provided [RCV000914369] Chr3:58121299 [GRCh38]
Chr3:58107026 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2744A>G (p.Gln915Arg) single nucleotide variant not provided [RCV001574068] Chr3:58112317 [GRCh38]
Chr3:58098044 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1483+35G>A single nucleotide variant not provided [RCV001574549] Chr3:58102375 [GRCh38]
Chr3:58088102 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3785G>C (p.Gly1262Ala) single nucleotide variant Connective tissue disorder [RCV002279521]|FLNB-Related Spectrum Disorders [RCV001144133]|not provided [RCV000762119] Chr3:58124392 [GRCh38]
Chr3:58110119 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.7418-176T>C single nucleotide variant not provided [RCV001576572] Chr3:58169414 [GRCh38]
Chr3:58155141 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1639G>A (p.Ala547Thr) single nucleotide variant Inborn genetic diseases [RCV003268230] Chr3:58105108 [GRCh38]
Chr3:58090835 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6092-239C>T single nucleotide variant not provided [RCV001584707] Chr3:58149611 [GRCh38]
Chr3:58135338 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3898+28C>G single nucleotide variant not provided [RCV001691459] Chr3:58124533 [GRCh38]
Chr3:58110260 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2864-72C>T single nucleotide variant not provided [RCV001584876] Chr3:58121169 [GRCh38]
Chr3:58106896 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4903G>A (p.Gly1635Ser) single nucleotide variant not provided [RCV001572803] Chr3:58138323 [GRCh38]
Chr3:58124050 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3127-230G>A single nucleotide variant not provided [RCV001570104] Chr3:58122863 [GRCh38]
Chr3:58108590 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4062-300C>T single nucleotide variant not provided [RCV001551804] Chr3:58126302 [GRCh38]
Chr3:58112029 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3127-354_4223-1836del deletion Spondylocarpotarsal synostosis syndrome [RCV001580582] Chr3:58122739..58128905 [GRCh38]
Chr3:58108466..58114632 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.1808C>T (p.Ser603Leu) single nucleotide variant not provided [RCV000756185] Chr3:58106740 [GRCh38]
Chr3:58092467 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4223-110C>T single nucleotide variant not provided [RCV001692495] Chr3:58130631 [GRCh38]
Chr3:58116358 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4390+199C>A single nucleotide variant not provided [RCV001583517] Chr3:58131107 [GRCh38]
Chr3:58116834 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.695C>T (p.Thr232Ile) single nucleotide variant not provided [RCV001596883] Chr3:58081684 [GRCh38]
Chr3:58067411 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6679T>G (p.Ser2227Ala) single nucleotide variant not provided [RCV001596928] Chr3:58154835 [GRCh38]
Chr3:58140562 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.788-163C>T single nucleotide variant not provided [RCV001681444] Chr3:58094673 [GRCh38]
Chr3:58080400 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150458]|Spondylocarpotarsal synostosis syndrome [RCV001254636]|not provided [RCV000998094] Chr3:58148789 [GRCh38]
Chr3:58134516 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2671G>C (p.Asp891His) single nucleotide variant Inborn genetic diseases [RCV004616760]|not provided [RCV001597523] Chr3:58112244 [GRCh38]
Chr3:58097971 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1583C>T (p.Thr528Ile) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145813] Chr3:58104058 [GRCh38]
Chr3:58089785 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met) single nucleotide variant Connective tissue disorder [RCV002276638]|FLNB-Related Spectrum Disorders [RCV001145918]|FLNB-related disorder [RCV004538369]|not provided [RCV001496265] Chr3:58121429 [GRCh38]
Chr3:58107156 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1920G>A (p.Thr640=) single nucleotide variant not provided [RCV000904118] Chr3:58106852 [GRCh38]
Chr3:58092579 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.972C>T (p.Thr324=) single nucleotide variant not provided [RCV000898371] Chr3:58096206 [GRCh38]
Chr3:58081933 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7602G>T (p.Leu2534=) single nucleotide variant not provided [RCV000922805] Chr3:58169774 [GRCh38]
Chr3:58155501 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5673G>T (p.Leu1891=) single nucleotide variant not provided [RCV000906052] Chr3:58146938 [GRCh38]
Chr3:58132665 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1215C>T (p.Leu405=) single nucleotide variant not provided [RCV000922773] Chr3:58098778 [GRCh38]
Chr3:58084505 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4671+9G>C single nucleotide variant not provided [RCV000921030] Chr3:58134781 [GRCh38]
Chr3:58120508 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6030C>T (p.Arg2010=) single nucleotide variant not provided [RCV000929551] Chr3:58148791 [GRCh38]
Chr3:58134518 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7647C>T (p.Val2549=) single nucleotide variant not provided [RCV000928599] Chr3:58170600 [GRCh38]
Chr3:58156327 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1020G>A (p.Lys340=) single nucleotide variant not provided [RCV000924180]|not specified [RCV003994168] Chr3:58097850 [GRCh38]
Chr3:58083577 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6852C>T (p.Ser2284=) single nucleotide variant not provided [RCV000905756] Chr3:58156039 [GRCh38]
Chr3:58141766 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1851T>A (p.Ala617=) single nucleotide variant not provided [RCV000906264] Chr3:58106783 [GRCh38]
Chr3:58092510 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7794T>C (p.His2598=) single nucleotide variant Connective tissue disorder [RCV002279643]|not provided [RCV000924288] Chr3:58170747 [GRCh38]
Chr3:58156474 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3675C>T (p.Ala1225=) single nucleotide variant not provided [RCV000899766] Chr3:58123641 [GRCh38]
Chr3:58109368 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1008G>A (p.Gln336=) single nucleotide variant not provided [RCV000923568] Chr3:58097838 [GRCh38]
Chr3:58083565 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6210C>T (p.Ile2070=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150461]|not provided [RCV000924470] Chr3:58149968 [GRCh38]
Chr3:58135695 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3162C>T (p.Leu1054=) single nucleotide variant not provided [RCV000879547] Chr3:58123128 [GRCh38]
Chr3:58108855 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1107C>T (p.Asn369=) single nucleotide variant Connective tissue disorder [RCV002279615]|FLNB-related disorder [RCV004530984]|not provided [RCV000893530] Chr3:58097937 [GRCh38]
Chr3:58083664 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.5785G>A (p.Asp1929Asn) single nucleotide variant Connective tissue disorder [RCV002279677]|FLNB-Related Spectrum Disorders [RCV001148937]|not provided [RCV000973676] Chr3:58148262 [GRCh38]
Chr3:58133989 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1998C>T (p.Ala666=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148580]|not provided [RCV000881464] Chr3:58108514 [GRCh38]
Chr3:58094241 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4641C>T (p.Ala1547=) single nucleotide variant not provided [RCV000881465] Chr3:58134742 [GRCh38]
Chr3:58120469 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6773-13C>A single nucleotide variant not provided [RCV001577084] Chr3:58155947 [GRCh38]
Chr3:58141674 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.864_865insT (p.Val289fs) insertion FLNB-Related Spectrum Disorders [RCV000778710] Chr3:58094912..58094913 [GRCh38]
Chr3:58080639..58080640 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3902del (p.Leu1301fs) deletion FLNB-Related Spectrum Disorders [RCV000778711] Chr3:58125584 [GRCh38]
Chr3:58111311 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150263]|FLNB-related disorder [RCV004530912]|not provided [RCV000882192] Chr3:58123488 [GRCh38]
Chr3:58109215 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.639+7A>G single nucleotide variant not provided [RCV000919372] Chr3:58078821 [GRCh38]
Chr3:58064548 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4164T>A (p.Ile1388=) single nucleotide variant not provided [RCV000919373] Chr3:58126704 [GRCh38]
Chr3:58112431 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4362G>C (p.Pro1454=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150330]|not provided [RCV000902944] Chr3:58130880 [GRCh38]
Chr3:58116607 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3430G>C (p.Glu1144Gln) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150261]|not provided [RCV000910466] Chr3:58123396 [GRCh38]
Chr3:58109123 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2103C>T (p.Asp701=) single nucleotide variant not provided [RCV000929625] Chr3:58109226 [GRCh38]
Chr3:58094953 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2637G>A (p.Pro879=) single nucleotide variant not provided [RCV000886477] Chr3:58112210 [GRCh38]
Chr3:58097937 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val) single nucleotide variant Larsen syndrome [RCV000856788] Chr3:58138348 [GRCh38]
Chr3:58124075 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.7464C>T (p.Ile2488=) single nucleotide variant not provided [RCV000936947] Chr3:58169636 [GRCh38]
Chr3:58155363 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2361G>T (p.Val787=) single nucleotide variant FLNB-related disorder [RCV004531002]|not provided [RCV000896284] Chr3:58110047 [GRCh38]
Chr3:58095774 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu) single nucleotide variant Atelosteogenesis type III [RCV002502624]|not provided [RCV000896833] Chr3:58143595 [GRCh38]
Chr3:58129322 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6225C>T (p.Phe2075=) single nucleotide variant not provided [RCV000916495] Chr3:58149983 [GRCh38]
Chr3:58135710 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3534C>T (p.Ala1178=) single nucleotide variant not provided [RCV000927403] Chr3:58123500 [GRCh38]
Chr3:58109227 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2323+8A>G single nucleotide variant not provided [RCV000983120] Chr3:58109707 [GRCh38]
Chr3:58095434 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6624G>A (p.Ala2208=) single nucleotide variant not provided [RCV000902279] Chr3:58153631 [GRCh38]
Chr3:58139358 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3822A>C (p.Ser1274=) single nucleotide variant not provided [RCV000916784] Chr3:58124429 [GRCh38]
Chr3:58110156 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4391-871G>A single nucleotide variant not provided [RCV000834463] Chr3:58131937 [GRCh38]
Chr3:58117664 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6772+113G>A single nucleotide variant not provided [RCV000834464] Chr3:58155041 [GRCh38]
Chr3:58140768 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7621+42C>T single nucleotide variant not provided [RCV000834499] Chr3:58169835 [GRCh38]
Chr3:58155562 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.906+275G>T single nucleotide variant not provided [RCV000843222] Chr3:58095229 [GRCh38]
Chr3:58080956 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2863+161G>A single nucleotide variant not provided [RCV000843254] Chr3:58119150 [GRCh38]
Chr3:58104877 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4861+142G>A single nucleotide variant not provided [RCV000843265] Chr3:58136310 [GRCh38]
Chr3:58122037 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7417+286T>C single nucleotide variant not provided [RCV000843329] Chr3:58168944 [GRCh38]
Chr3:58154671 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7622-126G>A single nucleotide variant not provided [RCV000843330] Chr3:58170449 [GRCh38]
Chr3:58156176 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4061+291G>A single nucleotide variant not provided [RCV000830277] Chr3:58126034 [GRCh38]
Chr3:58111761 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4514+277A>G single nucleotide variant not provided [RCV000830288] Chr3:58133208 [GRCh38]
Chr3:58118935 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5426-272_5426-271insAT insertion not provided [RCV000830316] Chr3:58145649..58145650 [GRCh38]
Chr3:58131376..58131377 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4671+11G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144242]|not provided [RCV000838616] Chr3:58134783 [GRCh38]
Chr3:58120510 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr) single nucleotide variant Larsen syndrome [RCV000987282]|not provided [RCV001561858]|not specified [RCV002469319] Chr3:58134726 [GRCh38]
Chr3:58120453 [GRCh37]
Chr3:3p14.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.541+288G>C single nucleotide variant not provided [RCV000830556] Chr3:58077582 [GRCh38]
Chr3:58063309 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4223-152A>G single nucleotide variant not provided [RCV000830284] Chr3:58130589 [GRCh38]
Chr3:58116316 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4022C>G (p.Ala1341Gly) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146016]|FLNB-related disorder [RCV004538148]|not provided [RCV000835305] Chr3:58125704 [GRCh38]
Chr3:58111431 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6367+97C>T single nucleotide variant not provided [RCV000835395] Chr3:58150324 [GRCh38]
Chr3:58136051 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5181+161G>A single nucleotide variant not provided [RCV000830308] Chr3:58142090 [GRCh38]
Chr3:58127817 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5426-133C>T single nucleotide variant not provided [RCV000830319] Chr3:58145788 [GRCh38]
Chr3:58145788..58145789 [GRCh38]
Chr3:58131515 [GRCh37]
Chr3:58131515..58131516 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5729-134G>C single nucleotide variant not provided [RCV000830587] Chr3:58148072 [GRCh38]
Chr3:58133799 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5425+110A>G single nucleotide variant not provided [RCV000834208] Chr3:58143723 [GRCh38]
Chr3:58129450 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1610+39G>A single nucleotide variant not provided [RCV000834394] Chr3:58104124 [GRCh38]
Chr3:58089851 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1748-61A>G single nucleotide variant not provided [RCV000834395] Chr3:58106619 [GRCh38]
Chr3:58092346 [GRCh37]
Chr3:3p14.3		 benign
GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1 copy number loss not provided [RCV000846379] Chr3:57076136..65716956 [GRCh37]
Chr3:3p14.3-14.1		 pathogenic
NM_001457.4(FLNB):c.292+136T>A single nucleotide variant not provided [RCV000843217] Chr3:58008992 [GRCh38]
Chr3:57994719 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.787+292C>T single nucleotide variant not provided [RCV000843219] Chr3:58082068 [GRCh38]
Chr3:58067795 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3127-305T>C single nucleotide variant not provided [RCV000843256] Chr3:58122788 [GRCh38]
Chr3:58108515 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3127-269T>C single nucleotide variant not provided [RCV000843258] Chr3:58122824 [GRCh38]
Chr3:58108551 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4390+740T>G single nucleotide variant not provided [RCV000843260] Chr3:58131648 [GRCh38]
Chr3:58117375 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5426-236C>T single nucleotide variant not provided [RCV000833269] Chr3:58145685 [GRCh38]
Chr3:58131412 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7176G>A (p.Thr2392=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150564]|not provided [RCV002557247] Chr3:58163308 [GRCh38]
Chr3:58149035 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4170C>T (p.Phe1390=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148802]|FLNB-related disorder [RCV004538372]|not provided [RCV002070805] Chr3:58126710 [GRCh38]
Chr3:58112437 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6882C>A (p.Ser2294Arg) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149058] Chr3:58156069 [GRCh38]
Chr3:58141796 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.-88C>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149924] Chr3:58008477 [GRCh38]
Chr3:57994204 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1148-8T>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150044]|not provided [RCV001337852] Chr3:58098703 [GRCh38]
Chr3:58084430 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1186C>T (p.Pro396Ser) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150045] Chr3:58098749 [GRCh38]
Chr3:58084476 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1747+155C>T single nucleotide variant not provided [RCV000830250] Chr3:58105371 [GRCh38]
Chr3:58091098 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3725-287A>G single nucleotide variant not provided [RCV000830259] Chr3:58124045 [GRCh38]
Chr3:58109772 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4062-267G>A single nucleotide variant not provided [RCV000830283] Chr3:58126335 [GRCh38]
Chr3:58112062 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2084A>G (p.Gln695Arg) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150149] Chr3:58109207 [GRCh38]
Chr3:58094934 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.3(FLNB):c.-160C>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148357] Chr3:58008405 [GRCh38]
Chr3:57994132 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2059G>A (p.Gly687Arg) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148581]|FLNB-related disorder [RCV004726903]|not provided [RCV001344537] Chr3:58109182 [GRCh38]
Chr3:58094909 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.293-263G>A single nucleotide variant not provided [RCV000831120] Chr3:58076783 [GRCh38]
Chr3:58062510 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5532C>T (p.Ile1844=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148935]|not provided [RCV002070806] Chr3:58146027 [GRCh38]
Chr3:58131754 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.7690G>A (p.Val2564Ile) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146397]|FLNB-related disorder [RCV004734031]|Inborn genetic diseases [RCV004032751]|not provided [RCV001811673] Chr3:58170643 [GRCh38]
Chr3:58156370 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6928A>G (p.Ile2310Val) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149059]|not provided [RCV001395771] Chr3:58159593 [GRCh38]
Chr3:58145320 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3409G>A (p.Val1137Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150260]|FLNB-related disorder [RCV004734033]|not provided [RCV002032390] Chr3:58123375 [GRCh38]
Chr3:58109102 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3476C>T (p.Ser1159Leu) single nucleotide variant Connective tissue disorder [RCV002276643]|FLNB-Related Spectrum Disorders [RCV001150262]|not provided [RCV002557235] Chr3:58123442 [GRCh38]
Chr3:58109169 [GRCh37]
Chr3:3p14.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.*471G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149178] Chr3:58171233 [GRCh38]
Chr3:58156960 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.787+236del deletion not provided [RCV000830561] Chr3:58082009 [GRCh38]
Chr3:58067736 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.3(FLNB):c.*1491T>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149292] Chr3:58172253 [GRCh38]
Chr3:58157980 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7417+205C>G single nucleotide variant not provided [RCV000830341] Chr3:58168863 [GRCh38]
Chr3:58154590 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.541+310C>T single nucleotide variant not provided [RCV000830559] Chr3:58077604 [GRCh38]
Chr3:58063331 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2055+274del deletion not provided [RCV000830564]|not specified [RCV001001487] Chr3:58108845 [GRCh38]
Chr3:58094572 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3127-277G>T single nucleotide variant not provided [RCV000830583] Chr3:58122816 [GRCh38]
Chr3:58108543 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6091+246C>T single nucleotide variant not provided [RCV000833336] Chr3:58149098 [GRCh38]
Chr3:58134825 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1345+160A>G single nucleotide variant not provided [RCV000843227] Chr3:58099068 [GRCh38]
Chr3:58084795 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1345+260A>C single nucleotide variant not provided [RCV000843228] Chr3:58099168 [GRCh38]
Chr3:58084895 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1484-170A>G single nucleotide variant not provided [RCV000843230] Chr3:58103789 [GRCh38]
Chr3:58089516 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4861+265T>C single nucleotide variant not provided [RCV000843290] Chr3:58136433 [GRCh38]
Chr3:58122160 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5181+171C>T single nucleotide variant not provided [RCV000843292] Chr3:58142100 [GRCh38]
Chr3:58127827 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5285-271G>C single nucleotide variant not provided [RCV000843293] Chr3:58143202 [GRCh38]
Chr3:58128929 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5554+203C>T single nucleotide variant not provided [RCV000843296] Chr3:58146252 [GRCh38]
Chr3:58131979 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5728+88G>A single nucleotide variant not provided [RCV000834209] Chr3:58147081 [GRCh38]
Chr3:58132808 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5728+89C>T single nucleotide variant not provided [RCV000834210] Chr3:58147082 [GRCh38]
Chr3:58132809 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7418-87C>G single nucleotide variant not provided [RCV000834211] Chr3:58169503 [GRCh38]
Chr3:58155230 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1592dup (p.His532fs) duplication Spondylocarpotarsal synostosis syndrome [RCV000782185] Chr3:58104060..58104061 [GRCh38]
Chr3:58089787..58089788 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.984+194C>G single nucleotide variant not provided [RCV000831988] Chr3:58096412 [GRCh38]
Chr3:58082139 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6994G>A (p.Glu2332Lys) single nucleotide variant Larsen syndrome [RCV003315173] Chr3:58159659 [GRCh38]
Chr3:58145386 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1484-90del deletion not provided [RCV000832338] Chr3:58103868 [GRCh38]
Chr3:58089595 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.541+282G>C single nucleotide variant not provided [RCV000829882] Chr3:58077576 [GRCh38]
Chr3:58063303 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3725-311T>A single nucleotide variant not provided [RCV000830258] Chr3:58124021 [GRCh38]
Chr3:58109748 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2804C>T (p.Thr935Ile) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145916] Chr3:58118930 [GRCh38]
Chr3:58104657 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6701G>C (p.Ser2234Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146267] Chr3:58154857 [GRCh38]
Chr3:58140584 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*60T>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146398] Chr3:58170822 [GRCh38]
Chr3:58156549 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*1257G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146527] Chr3:58172019 [GRCh38]
Chr3:58157746 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4391-825T>C single nucleotide variant FLNB-related disorder [RCV004545001]|not provided [RCV000998093] Chr3:58131983 [GRCh38]
Chr3:58117710 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001143917]|Inborn genetic diseases [RCV004030259]|not provided [RCV001811568] Chr3:58098890 [GRCh38]
Chr3:58084617 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.5147C>T (p.Pro1716Leu) single nucleotide variant not specified [RCV001002273] Chr3:58141895 [GRCh38]
Chr3:58127622 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu) single nucleotide variant Atelosteogenesis type III [RCV001197294]|Inborn genetic diseases [RCV002561053]|not provided [RCV001411753] Chr3:58170713 [GRCh38]
Chr3:58156440 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4096G>C (p.Glu1366Gln) single nucleotide variant not provided [RCV003313697] Chr3:58126636 [GRCh38]
Chr3:58112363 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5555-5_5561del deletion Spondylocarpotarsal synostosis syndrome [RCV000995767] Chr3:58146813..58146824 [GRCh38]
Chr3:58132540..58132551 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.7662C>A (p.Thr2554=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146396]|not provided [RCV002557135] Chr3:58170615 [GRCh38]
Chr3:58156342 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.*1295C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146528] Chr3:58172057 [GRCh38]
Chr3:58157784 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.-97C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149923]|not provided [RCV004711551] Chr3:58008468 [GRCh38]
Chr3:57994195 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2130G>C (p.Pro710=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150151]|FLNB-related disorder [RCV004538374]|not provided [RCV002032388] Chr3:58109253 [GRCh38]
Chr3:58094980 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7182C>T (p.Leu2394=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150565] Chr3:58163314 [GRCh38]
Chr3:58149041 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144134]|not provided [RCV001882444]|not specified [RCV002282463] Chr3:58124399 [GRCh38]
Chr3:58110126 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6164G>A (p.Gly2055Asp) single nucleotide variant Atelosteogenesis type III [RCV001196366]|Inborn genetic diseases [RCV004033463]|not provided [RCV002069279] Chr3:58149922 [GRCh38]
Chr3:58135649 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.864C>A (p.Asp288Glu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148469] Chr3:58094912 [GRCh38]
Chr3:58080639 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7311G>A (p.Gly2437=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144476] Chr3:58168552 [GRCh38]
Chr3:58154279 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3289G>A (p.Val1097Ile) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148705]|Inborn genetic diseases [RCV002557190]|not provided [RCV002032379] Chr3:58123255 [GRCh38]
Chr3:58108982 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.*732G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144591] Chr3:58171494 [GRCh38]
Chr3:58157221 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.*805A>G single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144593] Chr3:58171567 [GRCh38]
Chr3:58157294 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2417C>A (p.Thr806Lys) single nucleotide variant Atelosteogenesis type III [RCV001198350]|not provided [RCV003770217] Chr3:58110103 [GRCh38]
Chr3:58095830 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1864T>C (p.Cys622Arg) single nucleotide variant Atelosteogenesis type I [RCV004556922] Chr3:58106796 [GRCh38]
Chr3:58092523 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6721G>A (p.Asp2241Asn) single nucleotide variant not provided [RCV003104436] Chr3:58154877 [GRCh38]
Chr3:58140604 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2660C>T (p.Pro887Leu) single nucleotide variant not provided [RCV003105177] Chr3:58112233 [GRCh38]
Chr3:58097960 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.219_222dup (p.Met75fs) duplication Spondylocarpotarsal synostosis syndrome [RCV003234849] Chr3:58008781..58008782 [GRCh38]
Chr3:57994508..57994509 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.1484-195A>C single nucleotide variant not provided [RCV001568447] Chr3:58103764 [GRCh38]
Chr3:58089491 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6888+34G>A single nucleotide variant not provided [RCV001576105] Chr3:58156109 [GRCh38]
Chr3:58141836 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6888+44A>G single nucleotide variant not provided [RCV001581430] Chr3:58156119 [GRCh38]
Chr3:58141846 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1483+131C>G single nucleotide variant not provided [RCV001569032] Chr3:58102471 [GRCh38]
Chr3:58088198 [GRCh37]
Chr3:3p14.3		 likely benign
NC_000003.11:g.(?_58132525)_(58134500_?)del deletion not provided [RCV003107409] Chr3:58132525..58134500 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.1148-188G>A single nucleotide variant not provided [RCV001550744] Chr3:58098523 [GRCh38]
Chr3:58084250 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2098A>C (p.Met700Leu) single nucleotide variant Connective tissue disorder [RCV002276802]|not provided [RCV001569615] Chr3:58109221 [GRCh38]
Chr3:58094948 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NC_000003.12:g.58008288G>A single nucleotide variant not provided [RCV001577366] Chr3:58008288 [GRCh38]
Chr3:57994015 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1941+139TTTG[7] microsatellite not provided [RCV001546951] Chr3:58107012..58107015 [GRCh38]
Chr3:58092739..58092742 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2636C>T (p.Pro879Leu) single nucleotide variant not provided [RCV003107263] Chr3:58112209 [GRCh38]
Chr3:58097936 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.541+102G>A single nucleotide variant not provided [RCV001571009] Chr3:58077396 [GRCh38]
Chr3:58063123 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1925G>A (p.Gly642Asp) single nucleotide variant not specified [RCV003317809] Chr3:58106857 [GRCh38]
Chr3:58092584 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7417+29C>T single nucleotide variant not provided [RCV001713306] Chr3:58168687 [GRCh38]
Chr3:58154414 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3899-180G>A single nucleotide variant not provided [RCV001708565] Chr3:58125401 [GRCh38]
Chr3:58111128 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3898+116G>A single nucleotide variant not provided [RCV001555072] Chr3:58124621 [GRCh38]
Chr3:58110348 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6635-230del deletion not provided [RCV001671281] Chr3:58154545 [GRCh38]
Chr3:58140272 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4391-604C>T single nucleotide variant not provided [RCV001560996] Chr3:58132204 [GRCh38]
Chr3:58117931 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile) single nucleotide variant not provided [RCV001561063] Chr3:58136081 [GRCh38]
Chr3:58121808 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3898+171G>T single nucleotide variant not provided [RCV001596528] Chr3:58124676 [GRCh38]
Chr3:58110403 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4514+204C>G single nucleotide variant not provided [RCV001583959] Chr3:58133135 [GRCh38]
Chr3:58118862 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2200-41A>G single nucleotide variant not provided [RCV001707009] Chr3:58109535 [GRCh38]
Chr3:58095262 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7199-199G>A single nucleotide variant not provided [RCV001645641] Chr3:58168241 [GRCh38]
Chr3:58153968 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2055+262G>A single nucleotide variant not provided [RCV001561602] Chr3:58108833 [GRCh38]
Chr3:58094560 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4391-703T>C single nucleotide variant not provided [RCV001618102] Chr3:58132105 [GRCh38]
Chr3:58117832 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.453C>A (p.Asn151Lys) single nucleotide variant not provided [RCV001597527] Chr3:58077206 [GRCh38]
Chr3:58062933 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6368-314C>T single nucleotide variant not provided [RCV001621429] Chr3:58153061 [GRCh38]
Chr3:58138788 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.906+106A>G single nucleotide variant not provided [RCV001569644] Chr3:58095060 [GRCh38]
Chr3:58080787 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7621+264G>A single nucleotide variant not provided [RCV001593730] Chr3:58170057 [GRCh38]
Chr3:58155784 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1942-336A>C single nucleotide variant not provided [RCV001613921] Chr3:58108122 [GRCh38]
Chr3:58093849 [GRCh37]
Chr3:3p14.3		 benign
NC_000003.12:g.58008096T>C single nucleotide variant not provided [RCV001551498] Chr3:58008096 [GRCh38]
Chr3:57993823 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2055+221G>A single nucleotide variant not provided [RCV001616603] Chr3:58108792 [GRCh38]
Chr3:58094519 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.292+283G>A single nucleotide variant not provided [RCV001557620] Chr3:58009139 [GRCh38]
Chr3:57994866 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6634+29G>T single nucleotide variant not provided [RCV001620509] Chr3:58153670 [GRCh38]
Chr3:58139397 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7417+170G>A single nucleotide variant not provided [RCV001570375] Chr3:58168828 [GRCh38]
Chr3:58154555 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.906+274_906+275insTTATTTATTTAT microsatellite not provided [RCV001620639] Chr3:58095225..58095226 [GRCh38]
Chr3:58080952..58080953 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3724+116C>T single nucleotide variant not provided [RCV001558512] Chr3:58123806 [GRCh38]
Chr3:58109533 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2484+297dup duplication not provided [RCV001670599] Chr3:58110457..58110458 [GRCh38]
Chr3:58096184..58096185 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2745+203T>C single nucleotide variant not provided [RCV001559053] Chr3:58112521 [GRCh38]
Chr3:58098248 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6635-282C>G single nucleotide variant not provided [RCV001616453] Chr3:58154509 [GRCh38]
Chr3:58140236 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.293-162C>A single nucleotide variant not provided [RCV001715387] Chr3:58076884 [GRCh38]
Chr3:58062611 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6779A>G (p.Tyr2260Cys) single nucleotide variant Inborn genetic diseases [RCV003275725] Chr3:58155966 [GRCh38]
Chr3:58141693 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7782C>G (p.Gly2594=) single nucleotide variant not provided [RCV000908377] Chr3:58170735 [GRCh38]
Chr3:58156462 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1812T>C (p.Cys604=) single nucleotide variant not provided [RCV000940556] Chr3:58106744 [GRCh38]
Chr3:58092471 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3651C>T (p.Pro1217=) single nucleotide variant FLNB-related disorder [RCV004541830]|not provided [RCV000891861] Chr3:58123617 [GRCh38]
Chr3:58109344 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5133C>T (p.Ala1711=) single nucleotide variant not provided [RCV000894137] Chr3:58141881 [GRCh38]
Chr3:58127608 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7022-10A>G single nucleotide variant not provided [RCV000901118] Chr3:58163144 [GRCh38]
Chr3:58148871 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7509C>T (p.Ser2503=) single nucleotide variant not provided [RCV000919672] Chr3:58169681 [GRCh38]
Chr3:58155408 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5256G>A (p.Pro1752=) single nucleotide variant not provided [RCV000931162] Chr3:58142724 [GRCh38]
Chr3:58128451 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3585G>C (p.Val1195=) single nucleotide variant FLNB-related disorder [RCV004543643]|not provided [RCV000975999] Chr3:58123551 [GRCh38]
Chr3:58109278 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2778C>T (p.Gly926=) single nucleotide variant not provided [RCV000932797] Chr3:58118904 [GRCh38]
Chr3:58104631 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3930C>T (p.Asp1310=) single nucleotide variant not provided [RCV000885559] Chr3:58125612 [GRCh38]
Chr3:58111339 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6634+8T>C single nucleotide variant not provided [RCV000888439] Chr3:58153649 [GRCh38]
Chr3:58139376 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1941+7C>T single nucleotide variant not provided [RCV000895276] Chr3:58106880 [GRCh38]
Chr3:58092607 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7668C>T (p.Cys2556=) single nucleotide variant FLNB-related disorder [RCV004533484]|not provided [RCV000909657] Chr3:58170621 [GRCh38]
Chr3:58156348 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.6226G>A (p.Ala2076Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144361]|not provided [RCV002559391] Chr3:58149984 [GRCh38]
Chr3:58135711 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6237C>T (p.His2079=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144363]|not provided [RCV003769694] Chr3:58149995 [GRCh38]
Chr3:58135722 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4390+861T>G single nucleotide variant not provided [RCV001582306] Chr3:58131769 [GRCh38]
Chr3:58117496 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.563C>G (p.Ser188Cys) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145705]|not provided [RCV003769699] Chr3:58078738 [GRCh38]
Chr3:58064465 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1692C>T (p.Val564=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145815]|not provided [RCV002557121] Chr3:58105161 [GRCh38]
Chr3:58090888 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3898+7C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146015]|not provided [RCV003546651] Chr3:58124512 [GRCh38]
Chr3:58110239 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr) single nucleotide variant Connective tissue disorder [RCV002276639]|FLNB-Related Spectrum Disorders [RCV001146131]|not provided [RCV002070769] Chr3:58138398 [GRCh38]
Chr3:58124125 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.*69T>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146399] Chr3:58170831 [GRCh38]
Chr3:58156558 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*449C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149177] Chr3:58171211 [GRCh38]
Chr3:58156938 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2643C>T (p.Asn881=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144010]|not provided [RCV003769691] Chr3:58112216 [GRCh38]
Chr3:58097943 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4414G>A (p.Val1472Met) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144240]|not provided [RCV001858946] Chr3:58132831 [GRCh38]
Chr3:58118558 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.420G>A (p.Thr140=) single nucleotide variant Connective tissue disorder [RCV002279630]|FLNB-Related Spectrum Disorders [RCV001145704]|not provided [RCV000912377]|not specified [RCV003994159] Chr3:58077173 [GRCh38]
Chr3:58062900 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.7641C>T (p.Ile2547=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146395]|not provided [RCV000935262] Chr3:58170594 [GRCh38]
Chr3:58156321 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7143G>A (p.Ala2381=) single nucleotide variant not provided [RCV000911716] Chr3:58163275 [GRCh38]
Chr3:58149002 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4437C>T (p.His1479=) single nucleotide variant not provided [RCV000889749] Chr3:58132854 [GRCh38]
Chr3:58118581 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7418-5C>A single nucleotide variant not provided [RCV000911952] Chr3:58169585 [GRCh38]
Chr3:58155312 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4050C>T (p.Thr1350=) single nucleotide variant not provided [RCV000890118] Chr3:58125732 [GRCh38]
Chr3:58111459 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6635-247C>A single nucleotide variant not provided [RCV001569558] Chr3:58154544 [GRCh38]
Chr3:58140271 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2055+252G>A single nucleotide variant not provided [RCV001577429] Chr3:58108823 [GRCh38]
Chr3:58094550 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3899-24G>A single nucleotide variant not provided [RCV001562388] Chr3:58125557 [GRCh38]
Chr3:58111284 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2485-161C>T single nucleotide variant not provided [RCV001660835] Chr3:58111630 [GRCh38]
Chr3:58097357 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1942-243C>T single nucleotide variant not provided [RCV001570006] Chr3:58108215 [GRCh38]
Chr3:58093942 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4671+154G>T single nucleotide variant not provided [RCV001567454] Chr3:58134926 [GRCh38]
Chr3:58120653 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4861+87C>T single nucleotide variant not provided [RCV001661162] Chr3:58136255 [GRCh38]
Chr3:58121982 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3725-192C>T single nucleotide variant not provided [RCV001688669] Chr3:58124140 [GRCh38]
Chr3:58109867 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1747+184G>C single nucleotide variant not provided [RCV001570641] Chr3:58105400 [GRCh38]
Chr3:58091127 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5110-183_5110-182del deletion not provided [RCV001558201] Chr3:58141675..58141676 [GRCh38]
Chr3:58127402..58127403 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1748-201A>T single nucleotide variant not provided [RCV001669457] Chr3:58106479 [GRCh38]
Chr3:58092206 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.906+276TATT[10] microsatellite not provided [RCV001568478] Chr3:58095229..58095230 [GRCh38]
Chr3:58080956..58080957 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.787+242_787+247del deletion not provided [RCV001560255] Chr3:58082016..58082021 [GRCh38]
Chr3:58067743..58067748 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1942-323dup duplication not provided [RCV001566618] Chr3:58108125..58108126 [GRCh38]
Chr3:58093852..58093853 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2056-54C>T single nucleotide variant not provided [RCV001659152] Chr3:58109125 [GRCh38]
Chr3:58094852 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1483+148G>C single nucleotide variant not provided [RCV001540894] Chr3:58102488 [GRCh38]
Chr3:58088215 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1484-101T>A single nucleotide variant not provided [RCV001659397] Chr3:58103858 [GRCh38]
Chr3:58089585 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6888+72_6888+73del deletion not provided [RCV001608720] Chr3:58156147..58156148 [GRCh38]
Chr3:58141874..58141875 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1610+130del deletion not provided [RCV001621481] Chr3:58104199 [GRCh38]
Chr3:58089926 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4223-99T>C single nucleotide variant not provided [RCV001675273] Chr3:58130642 [GRCh38]
Chr3:58116369 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5729-121del deletion not provided [RCV001688278] Chr3:58148077 [GRCh38]
Chr3:58133804 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5728+95G>A single nucleotide variant not provided [RCV001538389] Chr3:58147088 [GRCh38]
Chr3:58132815 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4222+67G>C single nucleotide variant not provided [RCV001639603] Chr3:58126829 [GRCh38]
Chr3:58112556 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1748-203A>T single nucleotide variant not provided [RCV001655006] Chr3:58106477 [GRCh38]
Chr3:58092204 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4390+826G>A single nucleotide variant not provided [RCV001608466] Chr3:58131734 [GRCh38]
Chr3:58117461 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5425+76G>A single nucleotide variant not provided [RCV001537621] Chr3:58143689 [GRCh38]
Chr3:58129416 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.293-59A>T single nucleotide variant not provided [RCV001715008] Chr3:58076987 [GRCh38]
Chr3:58062714 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4514+42A>G single nucleotide variant not provided [RCV001717019] Chr3:58132973 [GRCh38]
Chr3:58118700 [GRCh37]
Chr3:3p14.3		 benign
NC_000003.12:g.58008150G>A single nucleotide variant not provided [RCV001617169] Chr3:58008150 [GRCh38]
Chr3:57993877 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6773-199C>T single nucleotide variant not provided [RCV001640892] Chr3:58155761 [GRCh38]
Chr3:58141488 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7622-275T>C single nucleotide variant not provided [RCV001688373] Chr3:58170300 [GRCh38]
Chr3:58156027 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6773-244G>C single nucleotide variant not provided [RCV001596378] Chr3:58155716 [GRCh38]
Chr3:58141443 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4672-80T>A single nucleotide variant not provided [RCV001686521] Chr3:58135899 [GRCh38]
Chr3:58121626 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.906+274_906+275insTTAT insertion not provided [RCV001710850] Chr3:58095225..58095226 [GRCh38]
Chr3:58080952..58080953 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4062-78A>G single nucleotide variant not provided [RCV001678157] Chr3:58126524 [GRCh38]
Chr3:58112251 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5181+292G>A single nucleotide variant not provided [RCV001594558] Chr3:58142221 [GRCh38]
Chr3:58127948 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2484+48T>G single nucleotide variant not provided [RCV001656983] Chr3:58110218 [GRCh38]
Chr3:58095945 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.906+276TATT[11] microsatellite not provided [RCV001698622] Chr3:58095229..58095230 [GRCh38]
Chr3:58080956..58080957 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6635-282C>T single nucleotide variant not provided [RCV001599002] Chr3:58154509 [GRCh38]
Chr3:58140236 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4515-24GT[7] microsatellite not provided [RCV001599140] Chr3:58134592..58134593 [GRCh38]
Chr3:58120319..58120320 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4223-110C>G single nucleotide variant not provided [RCV001596301] Chr3:58130631 [GRCh38]
Chr3:58116358 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2516T>G (p.Val839Gly) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144009]|not provided [RCV002557068] Chr3:58111822 [GRCh38]
Chr3:58097549 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2323+73_2323+74delinsCT indel not specified [RCV001000315] Chr3:58109772..58109773 [GRCh38]
Chr3:58095499..58095500 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4402C>T (p.Pro1468Ser) single nucleotide variant not specified [RCV001001113] Chr3:58132819 [GRCh38]
Chr3:58118546 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp) single nucleotide variant Connective tissue disorder [RCV002279699]|Inborn genetic diseases [RCV002550751]|not provided [RCV001456881]|not specified [RCV001001584] Chr3:58109218 [GRCh38]
Chr3:58094945 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.502G>T (p.Gly168Cys) single nucleotide variant not specified [RCV001002590] Chr3:58077255 [GRCh38]
Chr3:58062982 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile) single nucleotide variant Connective tissue disorder [RCV002276634]|FLNB-Related Spectrum Disorders [RCV001143916]|FLNB-related disorder [RCV004538365]|not provided [RCV001772339] Chr3:58098890 [GRCh38]
Chr3:58084617 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001143918]|Inborn genetic diseases [RCV002557065]|not provided [RCV002032361] Chr3:58102224 [GRCh38]
Chr3:58087951 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2104G>A (p.Gly702Ser) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150150]|Inborn genetic diseases [RCV002559442]|not provided [RCV001882462] Chr3:58109227 [GRCh38]
Chr3:58094954 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.*772C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144592] Chr3:58171534 [GRCh38]
Chr3:58157261 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1739G>T (p.Gly580Val) single nucleotide variant Atelosteogenesis type III [RCV001169838] Chr3:58105208 [GRCh38]
Chr3:58090935 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile) single nucleotide variant Atelosteogenesis type III [RCV002482274]|FLNB-Related Spectrum Disorders [RCV001144243] Chr3:58136133 [GRCh38]
Chr3:58121860 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4873G>A (p.Ala1625Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144244]|not provided [RCV001472176] Chr3:58138293 [GRCh38]
Chr3:58124020 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6416G>A (p.Arg2139His) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144365]|Inborn genetic diseases [RCV003163321]|not provided [RCV002559392] Chr3:58153423 [GRCh38]
Chr3:58139150 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.7183G>A (p.Glu2395Lys) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150566]|not provided [RCV001495362] Chr3:58163315 [GRCh38]
Chr3:58149042 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.*926C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144594] Chr3:58171688 [GRCh38]
Chr3:58157415 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.985-96G>A single nucleotide variant not provided [RCV001691917] Chr3:58097719 [GRCh38]
Chr3:58083446 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4222+165del deletion not provided [RCV001575140] Chr3:58126927 [GRCh38]
Chr3:58112654 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4514+308C>T single nucleotide variant not provided [RCV001713660] Chr3:58133239 [GRCh38]
Chr3:58118966 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3126+314C>T single nucleotide variant not provided [RCV001644211] Chr3:58121817 [GRCh38]
Chr3:58107544 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1135A>G (p.Ile379Val) single nucleotide variant not provided [RCV002549164]|not specified [RCV001001583] Chr3:58097965 [GRCh38]
Chr3:58083692 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NC_000003.12:g.58008194C>T single nucleotide variant not provided [RCV001647693] Chr3:58008194 [GRCh38]
Chr3:57993921 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4390+889G>A single nucleotide variant not provided [RCV001696058] Chr3:58131797 [GRCh38]
Chr3:58117524 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3899-197C>T single nucleotide variant not provided [RCV001614353] Chr3:58125384 [GRCh38]
Chr3:58111111 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4391-711C>T single nucleotide variant not provided [RCV001584591] Chr3:58132097 [GRCh38]
Chr3:58117824 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1611-171A>G single nucleotide variant not provided [RCV001584698] Chr3:58104909 [GRCh38]
Chr3:58090636 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.906+276TATT[12] microsatellite not provided [RCV001678988] Chr3:58095229..58095230 [GRCh38]
Chr3:58080956..58080957 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4514+300G>T single nucleotide variant not provided [RCV001681875] Chr3:58133231 [GRCh38]
Chr3:58118958 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2323+40G>T single nucleotide variant not provided [RCV001665400] Chr3:58109739 [GRCh38]
Chr3:58109739..58109740 [GRCh38]
Chr3:58095466 [GRCh37]
Chr3:58095466..58095467 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3724+34_3724+36del deletion not provided [RCV001680023] Chr3:58123704..58123706 [GRCh38]
Chr3:58109431..58109433 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4223-48G>T single nucleotide variant not provided [RCV001666188] Chr3:58130693 [GRCh38]
Chr3:58116420 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3725-208C>T single nucleotide variant not provided [RCV001583245] Chr3:58124124 [GRCh38]
Chr3:58109851 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1345+267C>T single nucleotide variant not provided [RCV001583723] Chr3:58099175 [GRCh38]
Chr3:58084902 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.788-58G>T single nucleotide variant not provided [RCV001683815] Chr3:58094778 [GRCh38]
Chr3:58080505 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3633A>C (p.Glu1211Asp) single nucleotide variant not provided [RCV001597522] Chr3:58123599 [GRCh38]
Chr3:58109326 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3931G>A (p.Val1311Met) single nucleotide variant not provided [RCV001058435] Chr3:58125613 [GRCh38]
Chr3:58111340 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3899-23T>G single nucleotide variant not provided [RCV001682413] Chr3:58125558 [GRCh38]
Chr3:58111285 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6634+34G>A single nucleotide variant not provided [RCV001669819] Chr3:58153675 [GRCh38]
Chr3:58139402 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2864-309dup duplication not provided [RCV001567314] Chr3:58120931..58120932 [GRCh38]
Chr3:58106658..58106659 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.639+154A>T single nucleotide variant not provided [RCV001584024] Chr3:58078968 [GRCh38]
Chr3:58064695 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3287C>T (p.Ser1096Phe) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148703]|not provided [RCV001882458] Chr3:58123253 [GRCh38]
Chr3:58108980 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3350A>G (p.His1117Arg) single nucleotide variant Atelosteogenesis type III [RCV002491435]|FLNB-Related Spectrum Disorders [RCV001148706]|not provided [RCV003769712] Chr3:58123316 [GRCh38]
Chr3:58109043 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4062-8C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148801]|not provided [RCV002070804] Chr3:58126594 [GRCh38]
Chr3:58112321 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5728+88_5728+89delinsAT indel not specified [RCV001001477] Chr3:58147081..58147082 [GRCh38]
Chr3:58132808..58132809 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6829C>T (p.Leu2277=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149057]|not provided [RCV002557207] Chr3:58156016 [GRCh38]
Chr3:58141743 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.*367A>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149176] Chr3:58171129 [GRCh38]
Chr3:58156856 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4724C>T (p.Thr1575Met) single nucleotide variant Inborn genetic diseases [RCV004031968]|not provided [RCV001091097] Chr3:58136031 [GRCh38]
Chr3:58121758 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.644T>A (p.Ile215Asn) single nucleotide variant Atelosteogenesis type III [RCV001199171] Chr3:58081633 [GRCh38]
Chr3:58067360 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.*514G>C single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150688] Chr3:58171276 [GRCh38]
Chr3:58157003 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6195G>T (p.Val2065=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150460] Chr3:58149953 [GRCh38]
Chr3:58135680 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145814]|not provided [RCV001464554]|not specified [RCV001000235] Chr3:58105109 [GRCh38]
Chr3:58090836 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.*698G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV001150689] Chr3:58171460 [GRCh38]
Chr3:58157187 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.247G>T (p.Ala83Ser) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145590] Chr3:58008811 [GRCh38]
Chr3:57994538 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln) single nucleotide variant Connective tissue disorder [RCV002276637]|FLNB-Related Spectrum Disorders [RCV001145816]|not provided [RCV001342420] Chr3:58105166 [GRCh38]
Chr3:58090893 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2864-5T>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145917] Chr3:58121236 [GRCh38]
Chr3:58106963 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6634+11C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146263]|not provided [RCV002559413] Chr3:58153652 [GRCh38]
Chr3:58139379 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_001457.4(FLNB):c.7610G>A (p.Cys2537Tyr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146394]|not provided [RCV002557134] Chr3:58169782 [GRCh38]
Chr3:58155509 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144131]|not provided [RCV003128950] Chr3:58123618 [GRCh38]
Chr3:58109345 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.7417+5C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001144478]|Inborn genetic diseases [RCV002557086]|not provided [RCV001371486] Chr3:58168663 [GRCh38]
Chr3:58154390 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.187T>C (p.Tyr63His) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001145589]|not provided [RCV002298874] Chr3:58008751 [GRCh38]
Chr3:57994478 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4981G>A (p.Glu1661Lys) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146132]|not provided [RCV003546653] Chr3:58138401 [GRCh38]
Chr3:58124128 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5327T>C (p.Ile1776Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001146133]|not provided [RCV001858959] Chr3:58143515 [GRCh38]
Chr3:58129242 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.246G>C (p.Val82=) single nucleotide variant not provided [RCV003106091]|not specified [RCV001001788] Chr3:58008810 [GRCh38]
Chr3:57994537 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4411G>C (p.Val1471Leu) single nucleotide variant not provided [RCV003718307]|not specified [RCV001002412] Chr3:58132828 [GRCh38]
Chr3:58118555 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.*1436G>A single nucleotide variant FLNB-Related Spectrum Disorders [RCV001149291] Chr3:58172198 [GRCh38]
Chr3:58157925 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.3(FLNB):c.-145G>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148358] Chr3:58008420 [GRCh38]
Chr3:57994147 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.798C>T (p.Pro266=) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148467]|not provided [RCV003106132] Chr3:58094846 [GRCh38]
Chr3:58080573 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1451G>C (p.Ser484Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001143919]|not provided [RCV002032362] Chr3:58102308 [GRCh38]
Chr3:58088035 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5729-4C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV001148936]|not provided [RCV002557200] Chr3:58148202 [GRCh38]
Chr3:58133929 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
GRCh37/hg19 3p14.3(chr3:57912545-58357970)x3 copy number gain not provided [RCV001259682] Chr3:57912545..58357970 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3724+35_3724+36del deletion not provided [RCV001663082] Chr3:58123704..58123705 [GRCh38]
Chr3:58109431..58109432 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4585T>C (p.Ser1529Pro) single nucleotide variant Atelosteogenesis type I [RCV001332007] Chr3:58134686 [GRCh38]
Chr3:58120413 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6792C>G (p.Ile2264Met) single nucleotide variant not provided [RCV001304525] Chr3:58155979 [GRCh38]
Chr3:58141706 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2484+19G>A single nucleotide variant not provided [RCV001810606] Chr3:58110189 [GRCh38]
Chr3:58095916 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.906+3A>G single nucleotide variant Atelosteogenesis type I [RCV001332008]|Inborn genetic diseases [RCV002546523] Chr3:58094957 [GRCh38]
Chr3:58080684 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3189C>T (p.Ile1063=) single nucleotide variant not provided [RCV001812458] Chr3:58123155 [GRCh38]
Chr3:58108882 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6211G>A (p.Val2071Ile) single nucleotide variant not provided [RCV001813078] Chr3:58149969 [GRCh38]
Chr3:58135696 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1748-6C>G single nucleotide variant not provided [RCV001813089] Chr3:58106674 [GRCh38]
Chr3:58092401 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile) single nucleotide variant Atelosteogenesis type III [RCV001267840]|Inborn genetic diseases [RCV002541633]|not provided [RCV002542853] Chr3:58170676 [GRCh38]
Chr3:58156403 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1748-210G>T single nucleotide variant not provided [RCV001537168] Chr3:58106470 [GRCh38]
Chr3:58092197 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.479A>C (p.Asn160Thr) single nucleotide variant not provided [RCV001352319] Chr3:58077232 [GRCh38]
Chr3:58062959 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6837G>A (p.Pro2279=) single nucleotide variant not provided [RCV001317330] Chr3:58156024 [GRCh38]
Chr3:58141751 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2743C>G (p.Gln915Glu) single nucleotide variant FLNB-related disorder [RCV004528453]|not provided [RCV001296951] Chr3:58112316 [GRCh38]
Chr3:58098043 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.498A>T (p.Gln166His) single nucleotide variant not provided [RCV001321897] Chr3:58077251 [GRCh38]
Chr3:58062978 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1006C>T (p.Gln336Ter) single nucleotide variant not provided [RCV002618118] Chr3:58097836 [GRCh38]
Chr3:58083563 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6643A>G (p.Ser2215Gly) single nucleotide variant Atelosteogenesis type I [RCV001333943] Chr3:58154799 [GRCh38]
Chr3:58140526 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3898+19G>A single nucleotide variant not provided [RCV001810680] Chr3:58124524 [GRCh38]
Chr3:58110251 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.2411A>G (p.Asn804Ser) single nucleotide variant not provided [RCV001363439] Chr3:58110097 [GRCh38]
Chr3:58095824 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1859T>A (p.Ile620Asn) single nucleotide variant not provided [RCV001786878] Chr3:58106791 [GRCh38]
Chr3:58092518 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3269A>G (p.Asn1090Ser) single nucleotide variant See cases [RCV002252676]|not provided [RCV001368810] Chr3:58123235 [GRCh38]
Chr3:58108962 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2298G>A (p.Thr766=) single nucleotide variant not provided [RCV001359964] Chr3:58109674 [GRCh38]
Chr3:58095401 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3151G>A (p.Glu1051Lys) single nucleotide variant not provided [RCV001346393] Chr3:58123117 [GRCh38]
Chr3:58108844 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.501C>A (p.Asp167Glu) single nucleotide variant Larsen syndrome [RCV001352899]|not provided [RCV001871905] Chr3:58077254 [GRCh38]
Chr3:58062981 [GRCh37]
Chr3:3p14.3		 likely pathogenic|uncertain significance
NM_001457.4(FLNB):c.7373G>A (p.Gly2458Glu) single nucleotide variant not provided [RCV001344796] Chr3:58168614 [GRCh38]
Chr3:58154341 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5414G>A (p.Ser1805Asn) single nucleotide variant not provided [RCV001351970] Chr3:58143602 [GRCh38]
Chr3:58129329 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1249G>A (p.Val417Met) single nucleotide variant not provided [RCV001344896] Chr3:58098812 [GRCh38]
Chr3:58084539 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6302G>A (p.Arg2101His) single nucleotide variant not provided [RCV001371792] Chr3:58150162 [GRCh38]
Chr3:58135889 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5053G>A (p.Val1685Met) single nucleotide variant not provided [RCV001365173] Chr3:58138473 [GRCh38]
Chr3:58124200 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3518A>C (p.Asp1173Ala) single nucleotide variant not provided [RCV001324129] Chr3:58123484 [GRCh38]
Chr3:58109211 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5524T>C (p.Phe1842Leu) single nucleotide variant Atelosteogenesis type I [RCV001333942] Chr3:58146019 [GRCh38]
Chr3:58131746 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1693G>A (p.Gly565Arg) single nucleotide variant Boomerang dysplasia [RCV002286842]|not provided [RCV001352208] Chr3:58105162 [GRCh38]
Chr3:58090889 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3254del (p.Ile1085fs) deletion Atelosteogenesis type 1 [RCV001292853] Chr3:58123220 [GRCh38]
Chr3:58108947 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6842T>G (p.Ile2281Ser) single nucleotide variant not provided [RCV001347269] Chr3:58156029 [GRCh38]
Chr3:58141756 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2048T>C (p.Phe683Ser) single nucleotide variant not provided [RCV001341190] Chr3:58108564 [GRCh38]
Chr3:58094291 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3934C>T (p.Pro1312Ser) single nucleotide variant not provided [RCV001345247] Chr3:58125616 [GRCh38]
Chr3:58111343 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4966G>C (p.Asp1656His) single nucleotide variant not provided [RCV001356884] Chr3:58138386 [GRCh38]
Chr3:58124113 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7604T>C (p.Val2535Ala) single nucleotide variant not provided [RCV001361949] Chr3:58169776 [GRCh38]
Chr3:58155503 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3445G>C (p.Gly1149Arg) single nucleotide variant not provided [RCV001364380] Chr3:58123411 [GRCh38]
Chr3:58109138 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3784G>A (p.Gly1262Arg) single nucleotide variant FLNB-related disorder [RCV004531085]|Inborn genetic diseases [RCV004036255]|not provided [RCV001302802] Chr3:58124391 [GRCh38]
Chr3:58110118 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.5839G>T (p.Gly1947Cys) single nucleotide variant not provided [RCV001340005] Chr3:58148316 [GRCh38]
Chr3:58134043 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.271A>G (p.Ser91Gly) single nucleotide variant not provided [RCV001370245] Chr3:58008835 [GRCh38]
Chr3:57994562 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4190T>C (p.Val1397Ala) single nucleotide variant not provided [RCV001371462] Chr3:58126730 [GRCh38]
Chr3:58112457 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1740dup (p.Ser581fs) duplication See cases [RCV001420227] Chr3:58105205..58105206 [GRCh38]
Chr3:58090932..58090933 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6413G>A (p.Gly2138Asp) single nucleotide variant not provided [RCV001327170] Chr3:58153420 [GRCh38]
Chr3:58139147 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4932G>T (p.Gly1644=) single nucleotide variant not provided [RCV001298154] Chr3:58138352 [GRCh38]
Chr3:58124079 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5181+4C>T single nucleotide variant not provided [RCV001316980] Chr3:58141933 [GRCh38]
Chr3:58127660 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3060C>T (p.Tyr1020=) single nucleotide variant not provided [RCV001394656] Chr3:58121437 [GRCh38]
Chr3:58107164 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.500A>G (p.Asp167Gly) single nucleotide variant not provided [RCV001378164] Chr3:58077253 [GRCh38]
Chr3:58062980 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.3972A>G (p.Glu1324=) single nucleotide variant not provided [RCV001472713] Chr3:58125654 [GRCh38]
Chr3:58111381 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4391-596G>A single nucleotide variant not provided [RCV001536942] Chr3:58132212 [GRCh38]
Chr3:58117939 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1610+65A>G single nucleotide variant not provided [RCV001537163] Chr3:58104150 [GRCh38]
Chr3:58089877 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile) single nucleotide variant not provided [RCV001444013] Chr3:58123175 [GRCh38]
Chr3:58108902 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.4288G>A (p.Gly1430Arg) single nucleotide variant not provided [RCV001420659] Chr3:58130806 [GRCh38]
Chr3:58116533 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4820G>A (p.Arg1607Gln) single nucleotide variant not provided [RCV001409926] Chr3:58136127 [GRCh38]
Chr3:58121854 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2412T>C (p.Asn804=) single nucleotide variant not provided [RCV001437481] Chr3:58110098 [GRCh38]
Chr3:58095825 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7622-92T>C single nucleotide variant not provided [RCV001534868] Chr3:58170483 [GRCh38]
Chr3:58156210 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5110-1G>A single nucleotide variant not provided [RCV001377356] Chr3:58141857 [GRCh38]
Chr3:58127584 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.3489G>A (p.Pro1163=) single nucleotide variant not provided [RCV001448610] Chr3:58123455 [GRCh38]
Chr3:58109182 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6092-324C>T single nucleotide variant not provided [RCV001538390] Chr3:58149526 [GRCh38]
Chr3:58135253 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.906+278_906+279insGTATTTATTTAT insertion not provided [RCV001652837] Chr3:58095229..58095230 [GRCh38]
Chr3:58080956..58080957 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4532T>G (p.Val1511Gly) single nucleotide variant Inborn genetic diseases [RCV004616759]|not provided [RCV001596897] Chr3:58134633 [GRCh38]
Chr3:58120360 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.787+26A>G single nucleotide variant not provided [RCV001540171] Chr3:58081802 [GRCh38]
Chr3:58067529 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.906+326G>C single nucleotide variant not provided [RCV001617594] Chr3:58095280 [GRCh38]
Chr3:58081007 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.906+274_906+275insTTATTTATTTATTTAT microsatellite not provided [RCV001690831] Chr3:58095225..58095226 [GRCh38]
Chr3:58080952..58080953 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6635-97A>G single nucleotide variant not provided [RCV001586454] Chr3:58154694 [GRCh38]
Chr3:58140421 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7510G>A (p.Ala2504Thr) single nucleotide variant not provided [RCV001451202] Chr3:58169682 [GRCh38]
Chr3:58155409 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.5109+154A>G single nucleotide variant not provided [RCV001589411] Chr3:58138683 [GRCh38]
Chr3:58124410 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2323+74G>T single nucleotide variant not provided [RCV001673774] Chr3:58109773 [GRCh38]
Chr3:58109773..58109774 [GRCh38]
Chr3:58095500 [GRCh37]
Chr3:58095500..58095501 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6498G>C (p.Thr2166=) single nucleotide variant not provided [RCV001452797] Chr3:58153505 [GRCh38]
Chr3:58139232 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7418-107C>T single nucleotide variant not provided [RCV001589568] Chr3:58169483 [GRCh38]
Chr3:58155210 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3873G>C (p.Gln1291His) single nucleotide variant not provided [RCV001512307] Chr3:58124480 [GRCh38]
Chr3:58110207 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1139A>G (p.Tyr380Cys) single nucleotide variant not provided [RCV001453151] Chr3:58097969 [GRCh38]
Chr3:58083696 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4671+8G>A single nucleotide variant not provided [RCV001487855] Chr3:58134780 [GRCh38]
Chr3:58120507 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1942-28A>G single nucleotide variant not provided [RCV001680726] Chr3:58108430 [GRCh38]
Chr3:58094157 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2485-122T>C single nucleotide variant not provided [RCV001618016] Chr3:58111669 [GRCh38]
Chr3:58097396 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7199-283A>C single nucleotide variant not provided [RCV001715960] Chr3:58168157 [GRCh38]
Chr3:58153884 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.4391-291_4391-290insAA insertion not provided [RCV001678672] Chr3:58132516..58132517 [GRCh38]
Chr3:58118243..58118244 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.906+278_906+279insGTATTTATTTATTTAT insertion not provided [RCV001592092] Chr3:58095229..58095230 [GRCh38]
Chr3:58080956..58080957 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1748-199A>T single nucleotide variant not provided [RCV001652352] Chr3:58106481 [GRCh38]
Chr3:58092208 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5109+326_5109+327del deletion not provided [RCV001587539] Chr3:58138854..58138855 [GRCh38]
Chr3:58124581..58124582 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.195G>A (p.Lys65=) single nucleotide variant not provided [RCV001531574] Chr3:58008759 [GRCh38]
Chr3:57994486 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7199-8T>C single nucleotide variant not provided [RCV001456930] Chr3:58168432 [GRCh38]
Chr3:58154159 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2976A>T (p.Leu992=) single nucleotide variant not provided [RCV001464727] Chr3:58121353 [GRCh38]
Chr3:58107080 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4172C>T (p.Ala1391Val) single nucleotide variant Inborn genetic diseases [RCV002562640]|not provided [RCV001475995] Chr3:58126712 [GRCh38]
Chr3:58112439 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7037G>A (p.Arg2346His) single nucleotide variant not provided [RCV001468880] Chr3:58163169 [GRCh38]
Chr3:58148896 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4814G>A (p.Arg1605His) single nucleotide variant not provided [RCV001461286] Chr3:58136121 [GRCh38]
Chr3:58121848 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.4295G>C (p.Gly1432Ala) single nucleotide variant not provided [RCV001478796] Chr3:58130813 [GRCh38]
Chr3:58116540 [GRCh37]
Chr3:3p14.3		 likely benign
NC_000003.11:g.(?_57130421)_(58520833_?)del deletion Pyruvate dehydrogenase E1-beta deficiency [RCV003105375] Chr3:57130421..58520833 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6333C>T (p.Val2111=) single nucleotide variant not provided [RCV001727252] Chr3:58150193 [GRCh38]
Chr3:58135920 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.364T>G (p.Ser122Ala) single nucleotide variant Short stature [RCV001733810]|not provided [RCV003312010] Chr3:58077117 [GRCh38]
Chr3:58062844 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5847C>T (p.Asp1949=) single nucleotide variant not provided [RCV003108692] Chr3:58148324 [GRCh38]
Chr3:58134051 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3582C>T (p.Tyr1194=) single nucleotide variant not provided [RCV003108720] Chr3:58123548 [GRCh38]
Chr3:58109275 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1738G>T (p.Gly580Trp) single nucleotide variant Inborn genetic diseases [RCV004244541]|not provided [RCV003108727] Chr3:58105207 [GRCh38]
Chr3:58090934 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4570G>A (p.Gly1524Ser) single nucleotide variant Larsen syndrome [RCV002238706] Chr3:58134671 [GRCh38]
Chr3:58120398 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.591T>A (p.Asn197Lys) single nucleotide variant Larsen syndrome [RCV002238707] Chr3:58078766 [GRCh38]
Chr3:58064493 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4550C>A (p.Ala1517Asp) single nucleotide variant Larsen syndrome [RCV002238710] Chr3:58134651 [GRCh38]
Chr3:58120378 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.7124T>C (p.Val2375Ala) single nucleotide variant not provided [RCV003109071] Chr3:58163256 [GRCh38]
Chr3:58148983 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6623C>T (p.Ala2208Val) single nucleotide variant not provided [RCV001754764] Chr3:58153630 [GRCh38]
Chr3:58139357 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3256G>A (p.Glu1086Lys) single nucleotide variant not provided [RCV001754781] Chr3:58123222 [GRCh38]
Chr3:58108949 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2471T>C (p.Leu824Pro) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV002227907] Chr3:58110157 [GRCh38]
Chr3:58095884 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6863G>A (p.Arg2288His) single nucleotide variant not provided [RCV001760973] Chr3:58156050 [GRCh38]
Chr3:58141777 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7175C>T (p.Thr2392Met) single nucleotide variant not provided [RCV003104892] Chr3:58163307 [GRCh38]
Chr3:58149034 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1505A>G (p.Lys502Arg) single nucleotide variant not provided [RCV001763191] Chr3:58103980 [GRCh38]
Chr3:58089707 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3835G>A (p.Glu1279Lys) single nucleotide variant not specified [RCV001732879] Chr3:58124442 [GRCh38]
Chr3:58110169 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4229C>G (p.Pro1410Arg) single nucleotide variant Larsen syndrome [RCV002238709] Chr3:58130747 [GRCh38]
Chr3:58116474 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1486G>T (p.Gly496Cys) single nucleotide variant Connective tissue disorder [RCV002276888]|FLNB-related disorder [RCV004734265]|not provided [RCV001868778] Chr3:58103961 [GRCh38]
Chr3:58089688 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.458T>A (p.Ile153Asn) single nucleotide variant not provided [RCV001760814] Chr3:58077211 [GRCh38]
Chr3:58062938 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3725-1G>T single nucleotide variant not provided [RCV001781123] Chr3:58124331 [GRCh38]
Chr3:58110058 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.5446G>C (p.Val1816Leu) single nucleotide variant not provided [RCV001757028] Chr3:58145941 [GRCh38]
Chr3:58131668 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5596A>G (p.Ile1866Val) single nucleotide variant Inborn genetic diseases [RCV002543948]|not provided [RCV001764837] Chr3:58146861 [GRCh38]
Chr3:58132588 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6193G>A (p.Val2065Met) single nucleotide variant Inborn genetic diseases [RCV002540296]|not provided [RCV001771077] Chr3:58149951 [GRCh38]
Chr3:58135678 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3673G>A (p.Ala1225Thr) single nucleotide variant Inborn genetic diseases [RCV003346688]|not provided [RCV001771160] Chr3:58123639 [GRCh38]
Chr3:58109366 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.7162T>C (p.Ser2388Pro) single nucleotide variant not provided [RCV001767293] Chr3:58163294 [GRCh38]
Chr3:58149021 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5188G>A (p.Glu1730Lys) single nucleotide variant not provided [RCV001765131] Chr3:58142656 [GRCh38]
Chr3:58128383 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3623A>G (p.Tyr1208Cys) single nucleotide variant not provided [RCV001773203] Chr3:58123589 [GRCh38]
Chr3:58109316 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6181T>C (p.Tyr2061His) single nucleotide variant not provided [RCV001763853] Chr3:58149939 [GRCh38]
Chr3:58135666 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6508A>G (p.Lys2170Glu) single nucleotide variant not provided [RCV001765649] Chr3:58153515 [GRCh38]
Chr3:58139242 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5506G>A (p.Ala1836Thr) single nucleotide variant not provided [RCV001772736] Chr3:58146001 [GRCh38]
Chr3:58131728 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6310C>T (p.Arg2104Trp) single nucleotide variant not provided [RCV001764094] Chr3:58150170 [GRCh38]
Chr3:58135897 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2324G>A (p.Gly775Asp) single nucleotide variant Inborn genetic diseases [RCV002540570]|not provided [RCV001764118] Chr3:58110010 [GRCh38]
Chr3:58095737 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4749C>G (p.Asp1583Glu) single nucleotide variant not provided [RCV001774446] Chr3:58136056 [GRCh38]
Chr3:58121783 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6317C>T (p.Pro2106Leu) single nucleotide variant Inborn genetic diseases [RCV004040136]|not provided [RCV001767377] Chr3:58150177 [GRCh38]
Chr3:58135904 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1876G>T (p.Asp626Tyr) single nucleotide variant not provided [RCV001768866] Chr3:58106808 [GRCh38]
Chr3:58092535 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7327A>G (p.Thr2443Ala) single nucleotide variant not provided [RCV001752560] Chr3:58168568 [GRCh38]
Chr3:58154295 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.484A>T (p.Asn162Tyr) single nucleotide variant not provided [RCV001757929] Chr3:58077237 [GRCh38]
Chr3:58062964 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5999G>A (p.Gly2000Asp) single nucleotide variant not provided [RCV001770774] Chr3:58148760 [GRCh38]
Chr3:58134487 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3265G>A (p.Asp1089Asn) single nucleotide variant not provided [RCV001770775] Chr3:58123231 [GRCh38]
Chr3:58108958 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.5380G>A (p.Gly1794Arg) single nucleotide variant not provided [RCV001765687] Chr3:58143568 [GRCh38]
Chr3:58129295 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile) single nucleotide variant Atelosteogenesis type III [RCV002488551]|FLNB-related disorder [RCV004536288]|not provided [RCV001770982] Chr3:58123291 [GRCh38]
Chr3:58109018 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1298C>A (p.Ala433Asp) single nucleotide variant Larsen syndrome [RCV001771798]|not provided [RCV003772107] Chr3:58098861 [GRCh38]
Chr3:58084588 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2299G>A (p.Val767Met) single nucleotide variant not provided [RCV001771487] Chr3:58109675 [GRCh38]
Chr3:58095402 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6078C>T (p.Asp2026=) single nucleotide variant not provided [RCV001810762] Chr3:58148839 [GRCh38]
Chr3:58134566 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5171T>G (p.Phe1724Cys) single nucleotide variant not provided [RCV001763350] Chr3:58141919 [GRCh38]
Chr3:58127646 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6221A>G (p.Lys2074Arg) single nucleotide variant not provided [RCV001812556] Chr3:58149979 [GRCh38]
Chr3:58135706 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3973G>A (p.Gly1325Ser) single nucleotide variant not provided [RCV001756725] Chr3:58125655 [GRCh38]
Chr3:58111382 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1203C>T (p.Thr401=) single nucleotide variant Connective tissue disorder [RCV002276897]|not provided [RCV001795680] Chr3:58098766 [GRCh38]
Chr3:58084493 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln) single nucleotide variant Atelosteogenesis type III [RCV002482319]|not provided [RCV001795719] Chr3:58121373 [GRCh38]
Chr3:58107100 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3886C>T (p.Pro1296Ser) single nucleotide variant Inborn genetic diseases [RCV003163822]|not provided [RCV001757826] Chr3:58124493 [GRCh38]
Chr3:58110220 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.7238G>A (p.Gly2413Asp) single nucleotide variant not provided [RCV001757969] Chr3:58168479 [GRCh38]
Chr3:58154206 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2437C>T (p.Pro813Ser) single nucleotide variant not provided [RCV001758056] Chr3:58110123 [GRCh38]
Chr3:58095850 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1243C>T (p.Arg415Ter) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV001806323] Chr3:58098806 [GRCh38]
Chr3:58084533 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.1493del (p.Glu498fs) deletion Spondylocarpotarsal synostosis syndrome [RCV001806413] Chr3:58103968 [GRCh38]
Chr3:58089695 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.1429delinsCT (p.Val477fs) indel Spondylocarpotarsal synostosis syndrome [RCV001806418] Chr3:58102286 [GRCh38]
Chr3:58088013 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.1461C>T (p.Leu487=) single nucleotide variant not provided [RCV001811925] Chr3:58102318 [GRCh38]
Chr3:58088045 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1873G>A (p.Glu625Lys) single nucleotide variant not provided [RCV001811902] Chr3:58106805 [GRCh38]
Chr3:58092532 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.4805C>A (p.Ser1602Tyr) single nucleotide variant Atelosteogenesis type I [RCV001808887]|not provided [RCV001885289] Chr3:58136112 [GRCh38]
Chr3:58121839 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2973C>G (p.Cys991Trp) single nucleotide variant not provided [RCV001806615] Chr3:58121350 [GRCh38]
Chr3:58107077 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6904G>A (p.Val2302Ile) single nucleotide variant not provided [RCV001806678] Chr3:58159569 [GRCh38]
Chr3:58145296 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1204del (p.Val402fs) deletion Spondylocarpotarsal synostosis syndrome [RCV001806389] Chr3:58098767 [GRCh38]
Chr3:58084494 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6632C>T (p.Pro2211Leu) single nucleotide variant not provided [RCV001888933] Chr3:58153639 [GRCh38]
Chr3:58139366 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6457C>T (p.His2153Tyr) single nucleotide variant not provided [RCV001915007] Chr3:58153464 [GRCh38]
Chr3:58139191 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2516T>A (p.Val839Asp) single nucleotide variant not provided [RCV002025711] Chr3:58111822 [GRCh38]
Chr3:58097549 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.1809G>T (p.Ser603=) single nucleotide variant not provided [RCV001949553] Chr3:58106741 [GRCh38]
Chr3:58092468 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1089G>T (p.Gly363=) single nucleotide variant not provided [RCV001947384] Chr3:58097919 [GRCh38]
Chr3:58083646 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.5609A>G (p.Asp1870Gly) single nucleotide variant not provided [RCV002025576] Chr3:58146874 [GRCh38]
Chr3:58132601 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5410G>C (p.Gly1804Arg) single nucleotide variant Inborn genetic diseases [RCV002560524]|not provided [RCV001949735] Chr3:58143598 [GRCh38]
Chr3:58129325 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3608_3616dup (p.Thr1203_Thr1205dup) duplication not provided [RCV002006116] Chr3:58123571..58123572 [GRCh38]
Chr3:58109298..58109299 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3955A>G (p.Lys1319Glu) single nucleotide variant not provided [RCV002042609] Chr3:58125637 [GRCh38]
Chr3:58111364 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5198A>G (p.Tyr1733Cys) single nucleotide variant not provided [RCV002025753] Chr3:58142666 [GRCh38]
Chr3:58128393 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6368-9C>G single nucleotide variant not provided [RCV001950774] Chr3:58153366 [GRCh38]
Chr3:58139093 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2057A>G (p.Asp686Gly) single nucleotide variant Inborn genetic diseases [RCV002552793]|not provided [RCV001914897] Chr3:58109180 [GRCh38]
Chr3:58094907 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2974C>G (p.Leu992Val) single nucleotide variant not provided [RCV002008764] Chr3:58121351 [GRCh38]
Chr3:58107078 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5059T>C (p.Tyr1687His) single nucleotide variant Larsen syndrome [RCV001839128]|not provided [RCV002542824] Chr3:58138479 [GRCh38]
Chr3:58124206 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2572G>T (p.Ala858Ser) single nucleotide variant not provided [RCV002008282] Chr3:58111878 [GRCh38]
Chr3:58097605 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4671+3A>G single nucleotide variant not provided [RCV002045711] Chr3:58134775 [GRCh38]
Chr3:58120502 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2721G>A (p.Thr907=) single nucleotide variant not provided [RCV001971303] Chr3:58112294 [GRCh38]
Chr3:58098021 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6866G>A (p.Arg2289His) single nucleotide variant Atelosteogenesis type III [RCV003448424]|not provided [RCV001873042] Chr3:58156053 [GRCh38]
Chr3:58141780 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2458A>G (p.Thr820Ala) single nucleotide variant not provided [RCV001970765] Chr3:58110144 [GRCh38]
Chr3:58095871 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6512A>C (p.Tyr2171Ser) single nucleotide variant not provided [RCV002008628] Chr3:58153519 [GRCh38]
Chr3:58139246 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1450A>C (p.Ser484Arg) single nucleotide variant Inborn genetic diseases [RCV004616937]|not provided [RCV002008807] Chr3:58102307 [GRCh38]
Chr3:58088034 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6367+6C>T single nucleotide variant not provided [RCV001929663] Chr3:58150233 [GRCh38]
Chr3:58135960 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.289A>G (p.Ile97Val) single nucleotide variant not provided [RCV002039269] Chr3:58008853 [GRCh38]
Chr3:57994580 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4470_4473dup (p.Met1492fs) duplication not provided [RCV001929496] Chr3:58132885..58132886 [GRCh38]
Chr3:58118612..58118613 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4736C>T (p.Thr1579Ile) single nucleotide variant Connective tissue disorder [RCV002276936]|not provided [RCV001929097] Chr3:58136043 [GRCh38]
Chr3:58121770 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1153G>A (p.Gly385Ser) single nucleotide variant not provided [RCV002025057] Chr3:58098716 [GRCh38]
Chr3:58084443 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4015A>G (p.Lys1339Glu) single nucleotide variant not provided [RCV001864232] Chr3:58125697 [GRCh38]
Chr3:58111424 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5533G>A (p.Val1845Ile) single nucleotide variant Connective tissue disorder [RCV002276982]|not provided [RCV002025669] Chr3:58146028 [GRCh38]
Chr3:58131755 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6834G>A (p.Val2278=) single nucleotide variant not provided [RCV002007290] Chr3:58156021 [GRCh38]
Chr3:58141748 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5530A>G (p.Ile1844Val) single nucleotide variant not provided [RCV001874791] Chr3:58146025 [GRCh38]
Chr3:58131752 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6386T>G (p.Met2129Arg) single nucleotide variant not provided [RCV002042332] Chr3:58153393 [GRCh38]
Chr3:58139120 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3836A>G (p.Glu1279Gly) single nucleotide variant not provided [RCV001891161] Chr3:58124443 [GRCh38]
Chr3:58110170 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV002272519]|not provided [RCV001892824] Chr3:58148319 [GRCh38]
Chr3:58134046 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4390G>C (p.Gly1464Arg) single nucleotide variant not provided [RCV001908595] Chr3:58130908 [GRCh38]
Chr3:58116635 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1282G>A (p.Val428Ile) single nucleotide variant not provided [RCV001968672] Chr3:58098845 [GRCh38]
Chr3:58084572 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4174C>A (p.Pro1392Thr) single nucleotide variant not provided [RCV002003922] Chr3:58126714 [GRCh38]
Chr3:58112441 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2183C>T (p.Pro728Leu) single nucleotide variant not provided [RCV001912528] Chr3:58109306 [GRCh38]
Chr3:58095033 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4834G>A (p.Gly1612Ser) single nucleotide variant not provided [RCV001986135] Chr3:58136141 [GRCh38]
Chr3:58121868 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.3674C>T (p.Ala1225Val) single nucleotide variant not provided [RCV001870757] Chr3:58123640 [GRCh38]
Chr3:58109367 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3409G>T (p.Val1137Leu) single nucleotide variant Inborn genetic diseases [RCV003170093]|not provided [RCV001982695] Chr3:58123375 [GRCh38]
Chr3:58109102 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2905A>G (p.Arg969Gly) single nucleotide variant not provided [RCV001983543] Chr3:58121282 [GRCh38]
Chr3:58107009 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4832C>T (p.Thr1611Met) single nucleotide variant not provided [RCV001964600] Chr3:58136139 [GRCh38]
Chr3:58121866 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7187G>C (p.Gly2396Ala) single nucleotide variant not provided [RCV001965870] Chr3:58163319 [GRCh38]
Chr3:58149046 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1711G>A (p.Val571Met) single nucleotide variant not provided [RCV001964873] Chr3:58105180 [GRCh38]
Chr3:58090907 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2823G>A (p.Pro941=) single nucleotide variant not provided [RCV001968400] Chr3:58118949 [GRCh38]
Chr3:58104676 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1586G>C (p.Trp529Ser) single nucleotide variant not provided [RCV002039421] Chr3:58104061 [GRCh38]
Chr3:58089788 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1352A>T (p.Asn451Ile) single nucleotide variant not provided [RCV001965170] Chr3:58102209 [GRCh38]
Chr3:58087936 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4061+5G>A single nucleotide variant not provided [RCV002006289] Chr3:58125748 [GRCh38]
Chr3:58111475 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2879A>G (p.Lys960Arg) single nucleotide variant not provided [RCV001946126] Chr3:58121256 [GRCh38]
Chr3:58106983 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.709T>C (p.Phe237Leu) single nucleotide variant not provided [RCV001911464] Chr3:58081698 [GRCh38]
Chr3:58067425 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.379G>A (p.Val127Met) single nucleotide variant Inborn genetic diseases [RCV004042806]|not provided [RCV001909583] Chr3:58077132 [GRCh38]
Chr3:58062859 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7121G>A (p.Arg2374His) single nucleotide variant not provided [RCV002043534] Chr3:58163253 [GRCh38]
Chr3:58148980 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4468C>T (p.Pro1490Ser) single nucleotide variant not provided [RCV001893984] Chr3:58132885 [GRCh38]
Chr3:58118612 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.731C>T (p.Pro244Leu) single nucleotide variant not provided [RCV001945362] Chr3:58081720 [GRCh38]
Chr3:58067447 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7187G>A (p.Gly2396Glu) single nucleotide variant Inborn genetic diseases [RCV002551666]|not provided [RCV001872914] Chr3:58163319 [GRCh38]
Chr3:58149046 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4562C>T (p.Thr1521Ile) single nucleotide variant not provided [RCV002005865] Chr3:58134663 [GRCh38]
Chr3:58120390 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1148G>A (p.Gly383Glu) single nucleotide variant not provided [RCV001891609] Chr3:58098711 [GRCh38]
Chr3:58084438 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2482C>G (p.Gln828Glu) single nucleotide variant not provided [RCV001910436] Chr3:58110168 [GRCh38]
Chr3:58095895 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6725A>G (p.Asp2242Gly) single nucleotide variant not provided [RCV002002137] Chr3:58154881 [GRCh38]
Chr3:58140608 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5848_5853dup (p.Glu1950_Pro1951dup) duplication not provided [RCV001964461] Chr3:58148323..58148324 [GRCh38]
Chr3:58134050..58134051 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4406T>G (p.Val1469Gly) single nucleotide variant not provided [RCV002002716] Chr3:58132823 [GRCh38]
Chr3:58118550 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7385T>C (p.Ile2462Thr) single nucleotide variant not provided [RCV001928627] Chr3:58168626 [GRCh38]
Chr3:58154353 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7661C>T (p.Thr2554Ile) single nucleotide variant not provided [RCV002006883] Chr3:58170614 [GRCh38]
Chr3:58156341 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4438A>C (p.Thr1480Pro) single nucleotide variant not provided [RCV001872762] Chr3:58132855 [GRCh38]
Chr3:58118582 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5181+4C>A single nucleotide variant not provided [RCV001985069] Chr3:58141933 [GRCh38]
Chr3:58127660 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3537A>T (p.Glu1179Asp) single nucleotide variant not provided [RCV001909238] Chr3:58123503 [GRCh38]
Chr3:58109230 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.205C>T (p.Arg69Trp) single nucleotide variant not provided [RCV001965520] Chr3:58008769 [GRCh38]
Chr3:57994496 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4022C>T (p.Ala1341Val) single nucleotide variant not provided [RCV003666182] Chr3:58125704 [GRCh38]
Chr3:58111431 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5134G>T (p.Val1712Leu) single nucleotide variant Inborn genetic diseases [RCV003355648]|not provided [RCV001928396] Chr3:58141882 [GRCh38]
Chr3:58127609 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.3387G>A (p.Met1129Ile) single nucleotide variant Inborn genetic diseases [RCV003264139]|not provided [RCV001872391] Chr3:58123353 [GRCh38]
Chr3:58109080 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5695A>C (p.Ile1899Leu) single nucleotide variant not provided [RCV001863323] Chr3:58146960 [GRCh38]
Chr3:58132687 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.650C>T (p.Pro217Leu) single nucleotide variant not provided [RCV002039783] Chr3:58081639 [GRCh38]
Chr3:58067366 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6463G>A (p.Val2155Ile) single nucleotide variant Inborn genetic diseases [RCV003365603]|not provided [RCV001965810] Chr3:58153470 [GRCh38]
Chr3:58139197 [GRCh37]
Chr3:3p14.3		 benign|likely benign|uncertain significance
NM_001457.4(FLNB):c.5243A>C (p.Asp1748Ala) single nucleotide variant not provided [RCV002003153] Chr3:58142711 [GRCh38]
Chr3:58128438 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys) single nucleotide variant Inborn genetic diseases [RCV002556442]|not provided [RCV001948151] Chr3:58163168 [GRCh38]
Chr3:58148895 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.7198+6C>T single nucleotide variant not provided [RCV002042446] Chr3:58163336 [GRCh38]
Chr3:58149063 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5968G>A (p.Val1990Met) single nucleotide variant not provided [RCV002007068] Chr3:58148729 [GRCh38]
Chr3:58134456 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1792G>A (p.Asp598Asn) single nucleotide variant not provided [RCV001889879] Chr3:58106724 [GRCh38]
Chr3:58092451 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NC_000003.11:g.(?_58148861)_(58149077_?)del deletion not provided [RCV002039450] Chr3:58148861..58149077 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7418-8T>G single nucleotide variant not provided [RCV002022133] Chr3:58169582 [GRCh38]
Chr3:58155309 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7379A>G (p.Asn2460Ser) single nucleotide variant not provided [RCV002042371] Chr3:58168620 [GRCh38]
Chr3:58154347 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3877G>A (p.Glu1293Lys) single nucleotide variant not provided [RCV001910269] Chr3:58124484 [GRCh38]
Chr3:58110211 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6407C>T (p.Pro2136Leu) single nucleotide variant Inborn genetic diseases [RCV004046154]|not provided [RCV002004167] Chr3:58153414 [GRCh38]
Chr3:58139141 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1346-2A>G single nucleotide variant Larsen syndrome [RCV001839333] Chr3:58102201 [GRCh38]
Chr3:58087928 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3572C>T (p.Ala1191Val) single nucleotide variant not provided [RCV001965729] Chr3:58123538 [GRCh38]
Chr3:58109265 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.613G>T (p.Ala205Ser) single nucleotide variant not provided [RCV001999729] Chr3:58078788 [GRCh38]
Chr3:58064515 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.7664C>T (p.Pro2555Leu) single nucleotide variant not provided [RCV001944071] Chr3:58170617 [GRCh38]
Chr3:58156344 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7273T>A (p.Ser2425Thr) single nucleotide variant not provided [RCV001907458] Chr3:58168514 [GRCh38]
Chr3:58154241 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4952C>T (p.Thr1651Met) single nucleotide variant not provided [RCV001963737] Chr3:58138372 [GRCh38]
Chr3:58124099 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7424G>A (p.Arg2475His) single nucleotide variant not provided [RCV001883775] Chr3:58169596 [GRCh38]
Chr3:58155323 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_001457.4(FLNB):c.2198G>A (p.Arg733Lys) single nucleotide variant not provided [RCV001998768] Chr3:58109321 [GRCh38]
Chr3:58095048 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1109del (p.Ile370fs) deletion not provided [RCV001899424] Chr3:58097939 [GRCh38]
Chr3:58083666 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.1366C>T (p.Arg456Trp) single nucleotide variant not provided [RCV001922398] Chr3:58102223 [GRCh38]
Chr3:58087950 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2805T>G (p.Thr935=) single nucleotide variant not provided [RCV001961909] Chr3:58118931 [GRCh38]
Chr3:58104658 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1352A>G (p.Asn451Ser) single nucleotide variant not provided [RCV001887325] Chr3:58102209 [GRCh38]
Chr3:58087936 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2956C>T (p.Arg986Trp) single nucleotide variant not provided [RCV002013351] Chr3:58121333 [GRCh38]
Chr3:58107060 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3992T>A (p.Val1331Glu) single nucleotide variant not provided [RCV001938880] Chr3:58125674 [GRCh38]
Chr3:58111401 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4792G>A (p.Asp1598Asn) single nucleotide variant not provided [RCV002036515] Chr3:58136099 [GRCh38]
Chr3:58121826 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3299T>G (p.Leu1100Arg) single nucleotide variant not provided [RCV002001319] Chr3:58123265 [GRCh38]
Chr3:58108992 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6809A>G (p.His2270Arg) single nucleotide variant Inborn genetic diseases [RCV002547977]|not provided [RCV001864742] Chr3:58155996 [GRCh38]
Chr3:58141723 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.89dup (p.Lys31fs) duplication not provided [RCV002037828] Chr3:58008652..58008653 [GRCh38]
Chr3:57994379..57994380 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4907T>A (p.Phe1636Tyr) single nucleotide variant not provided [RCV001931729] Chr3:58138327 [GRCh38]
Chr3:58124054 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.107G>T (p.Arg36Leu) single nucleotide variant Inborn genetic diseases [RCV002552923]|not provided [RCV001888799] Chr3:58008671 [GRCh38]
Chr3:57994398 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.609G>T (p.Gln203His) single nucleotide variant not provided [RCV001960916] Chr3:58078784 [GRCh38]
Chr3:58064511 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6160G>A (p.Asp2054Asn) single nucleotide variant not provided [RCV002019436] Chr3:58149918 [GRCh38]
Chr3:58135645 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7472_7473del (p.Glu2491fs) deletion not provided [RCV002000211] Chr3:58169643..58169644 [GRCh38]
Chr3:58155370..58155371 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.2484+2dup duplication not provided [RCV002026513] Chr3:58110171..58110172 [GRCh38]
Chr3:58095898..58095899 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2695A>G (p.Ile899Val) single nucleotide variant not provided [RCV002018877] Chr3:58112268 [GRCh38]
Chr3:58097995 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5348C>T (p.Thr1783Met) single nucleotide variant not provided [RCV001883923] Chr3:58143536 [GRCh38]
Chr3:58129263 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6489C>T (p.Gly2163=) single nucleotide variant not provided [RCV002038016] Chr3:58153496 [GRCh38]
Chr3:58139223 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5873C>G (p.Pro1958Arg) single nucleotide variant not provided [RCV001932263] Chr3:58148350 [GRCh38]
Chr3:58134077 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7492A>G (p.Thr2498Ala) single nucleotide variant not provided [RCV001995514] Chr3:58169664 [GRCh38]
Chr3:58155391 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5217G>A (p.Met1739Ile) single nucleotide variant not provided [RCV001952936] Chr3:58142685 [GRCh38]
Chr3:58128412 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2596A>G (p.Thr866Ala) single nucleotide variant not provided [RCV002050560] Chr3:58112169 [GRCh38]
Chr3:58097896 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2120C>T (p.Ser707Leu) single nucleotide variant Inborn genetic diseases [RCV002573465]|not provided [RCV002014967] Chr3:58109243 [GRCh38]
Chr3:58094970 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6503G>C (p.Ser2168Thr) single nucleotide variant not provided [RCV001952990] Chr3:58153510 [GRCh38]
Chr3:58139237 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2746-3C>G single nucleotide variant not provided [RCV001870425] Chr3:58118869 [GRCh38]
Chr3:58104596 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3728T>C (p.Val1243Ala) single nucleotide variant not provided [RCV001900676] Chr3:58124335 [GRCh38]
Chr3:58110062 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4475T>C (p.Met1492Thr) single nucleotide variant not provided [RCV002015636] Chr3:58132892 [GRCh38]
Chr3:58118619 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3724+4G>C single nucleotide variant Atelosteogenesis type III [RCV002497944]|not provided [RCV001993976] Chr3:58123694 [GRCh38]
Chr3:58109421 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6322G>A (p.Val2108Met) single nucleotide variant not provided [RCV001937131] Chr3:58150182 [GRCh38]
Chr3:58135909 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1540G>A (p.Glu514Lys) single nucleotide variant not provided [RCV001957758] Chr3:58104015 [GRCh38]
Chr3:58089742 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2220C>A (p.Ser740Arg) single nucleotide variant not provided [RCV002014670] Chr3:58109596 [GRCh38]
Chr3:58095323 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5910A>G (p.Glu1970=) single nucleotide variant not provided [RCV002032266] Chr3:58148671 [GRCh38]
Chr3:58134398 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2779G>A (p.Asp927Asn) single nucleotide variant Inborn genetic diseases [RCV002561340]|not provided [RCV001954883] Chr3:58118905 [GRCh38]
Chr3:58104632 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.212C>G (p.Thr71Ser) single nucleotide variant FLNB-related disorder [RCV004538585]|not provided [RCV001878094] Chr3:58008776 [GRCh38]
Chr3:57994503 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2996G>C (p.Arg999Pro) single nucleotide variant not provided [RCV002009646] Chr3:58121373 [GRCh38]
Chr3:58107100 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3676G>A (p.Val1226Met) single nucleotide variant Inborn genetic diseases [RCV002562022]|not provided [RCV001952437] Chr3:58123642 [GRCh38]
Chr3:58109369 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1313C>T (p.Pro438Leu) single nucleotide variant not provided [RCV001915825] Chr3:58098876 [GRCh38]
Chr3:58084603 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6244G>A (p.Gly2082Arg) single nucleotide variant not provided [RCV001917483] Chr3:58150002 [GRCh38]
Chr3:58135729 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5824A>G (p.Ile1942Val) single nucleotide variant not provided [RCV002013920] Chr3:58148301 [GRCh38]
Chr3:58134028 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4306C>G (p.Arg1436Gly) single nucleotide variant not provided [RCV001933492] Chr3:58130824 [GRCh38]
Chr3:58116551 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.668C>T (p.Pro223Leu) single nucleotide variant not provided [RCV001957509] Chr3:58081657 [GRCh38]
Chr3:58067384 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3655C>T (p.Arg1219Trp) single nucleotide variant not provided [RCV001898989] Chr3:58123621 [GRCh38]
Chr3:58109348 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.6896G>A (p.Gly2299Glu) single nucleotide variant not provided [RCV001933663] Chr3:58159561 [GRCh38]
Chr3:58145288 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6043G>A (p.Gly2015Ser) single nucleotide variant not provided [RCV002010349] Chr3:58148804 [GRCh38]
Chr3:58134531 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1510A>C (p.Lys504Gln) single nucleotide variant not provided [RCV001881284] Chr3:58103985 [GRCh38]
Chr3:58089712 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4671+6T>G single nucleotide variant not provided [RCV001995672] Chr3:58134778 [GRCh38]
Chr3:58120505 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2924G>A (p.Gly975Glu) single nucleotide variant not provided [RCV002034254] Chr3:58121301 [GRCh38]
Chr3:58107028 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1930A>G (p.Asn644Asp) single nucleotide variant not provided [RCV001960275] Chr3:58106862 [GRCh38]
Chr3:58092589 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_001457.4(FLNB):c.2309C>T (p.Thr770Ile) single nucleotide variant not provided [RCV002010433] Chr3:58109685 [GRCh38]
Chr3:58095412 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6368-9_6368-6del deletion not provided [RCV001876452] Chr3:58153366..58153369 [GRCh38]
Chr3:58139093..58139096 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4973C>T (p.Thr1658Ile) single nucleotide variant not provided [RCV001883930] Chr3:58138393 [GRCh38]
Chr3:58124120 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4894G>A (p.Glu1632Lys) single nucleotide variant not provided [RCV001936285] Chr3:58138314 [GRCh38]
Chr3:58124041 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4861+2T>C single nucleotide variant not provided [RCV002032022] Chr3:58136170 [GRCh38]
Chr3:58121897 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.5294A>T (p.His1765Leu) single nucleotide variant not provided [RCV001906548] Chr3:58143482 [GRCh38]
Chr3:58129209 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2797C>G (p.Pro933Ala) single nucleotide variant not provided [RCV001975747] Chr3:58118923 [GRCh38]
Chr3:58104650 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4860G>A (p.Thr1620=) single nucleotide variant not provided [RCV002014774] Chr3:58136167 [GRCh38]
Chr3:58121894 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4176G>A (p.Pro1392=) single nucleotide variant not provided [RCV001880776] Chr3:58126716 [GRCh38]
Chr3:58112443 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5051A>G (p.Tyr1684Cys) single nucleotide variant not provided [RCV002012167]|not specified [RCV003235632] Chr3:58138471 [GRCh38]
Chr3:58124198 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4405G>A (p.Val1469Met) single nucleotide variant not provided [RCV001878018] Chr3:58132822 [GRCh38]
Chr3:58118549 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5326A>G (p.Ile1776Val) single nucleotide variant not provided [RCV001977144] Chr3:58143514 [GRCh38]
Chr3:58129241 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1403G>A (p.Arg468His) single nucleotide variant not provided [RCV001881671] Chr3:58102260 [GRCh38]
Chr3:58087987 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6146C>T (p.Thr2049Met) single nucleotide variant not provided [RCV001996035] Chr3:58149904 [GRCh38]
Chr3:58135631 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.501C>G (p.Asp167Glu) single nucleotide variant not provided [RCV001953726] Chr3:58077254 [GRCh38]
Chr3:58062981 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.583G>A (p.Val195Met) single nucleotide variant not provided [RCV001906689] Chr3:58078758 [GRCh38]
Chr3:58064485 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4670C>T (p.Thr1557Met) single nucleotide variant Inborn genetic diseases [RCV004041200]|not provided [RCV001917292] Chr3:58134771 [GRCh38]
Chr3:58120498 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5888-3C>T single nucleotide variant not provided [RCV001982124] Chr3:58148646 [GRCh38]
Chr3:58134373 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1147+10C>G single nucleotide variant not provided [RCV001974837] Chr3:58097987 [GRCh38]
Chr3:58083714 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5285-3T>C single nucleotide variant not provided [RCV001938220] Chr3:58143470 [GRCh38]
Chr3:58129197 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3593C>T (p.Thr1198Met) single nucleotide variant not provided [RCV001924326] Chr3:58123559 [GRCh38]
Chr3:58109286 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4439_4440dup (p.Val1481fs) microsatellite not provided [RCV001930750] Chr3:58132847..58132848 [GRCh38]
Chr3:58118574..58118575 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.533G>C (p.Cys178Ser) single nucleotide variant not provided [RCV001905669] Chr3:58077286 [GRCh38]
Chr3:58063013 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3105G>A (p.Ser1035=) single nucleotide variant not provided [RCV001954133] Chr3:58121482 [GRCh38]
Chr3:58107209 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.640-6del deletion not provided [RCV001922263] Chr3:58081623 [GRCh38]
Chr3:58067350 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7738G>A (p.Asp2580Asn) single nucleotide variant not provided [RCV001934637] Chr3:58170691 [GRCh38]
Chr3:58156418 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.718G>A (p.Ala240Thr) single nucleotide variant not provided [RCV001998818] Chr3:58081707 [GRCh38]
Chr3:58067434 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4430G>T (p.Gly1477Val) single nucleotide variant not provided [RCV001924570] Chr3:58132847 [GRCh38]
Chr3:58118574 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6238G>A (p.Val2080Met) single nucleotide variant not provided [RCV001884729] Chr3:58149996 [GRCh38]
Chr3:58135723 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1372A>G (p.Ser458Gly) single nucleotide variant not provided [RCV002018405] Chr3:58102229 [GRCh38]
Chr3:58087956 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6772+4T>C single nucleotide variant not provided [RCV001906445] Chr3:58154932 [GRCh38]
Chr3:58140659 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7684A>G (p.Lys2562Glu) single nucleotide variant not provided [RCV002018911] Chr3:58170637 [GRCh38]
Chr3:58156364 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5906G>A (p.Arg1969Gln) single nucleotide variant not provided [RCV001925368] Chr3:58148667 [GRCh38]
Chr3:58134394 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2822C>T (p.Pro941Leu) single nucleotide variant not provided [RCV001907034] Chr3:58118948 [GRCh38]
Chr3:58104675 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4637A>G (p.Asp1546Gly) single nucleotide variant not provided [RCV001930180] Chr3:58134738 [GRCh38]
Chr3:58120465 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3724+5G>A single nucleotide variant FLNB-related disorder [RCV004734300]|not provided [RCV001934836] Chr3:58123695 [GRCh38]
Chr3:58109422 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3690G>T (p.Arg1230Ser) single nucleotide variant not provided [RCV001973898] Chr3:58123656 [GRCh38]
Chr3:58109383 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1462G>A (p.Gly488Ser) single nucleotide variant Inborn genetic diseases [RCV004616805]|not provided [RCV001864858] Chr3:58102319 [GRCh38]
Chr3:58088046 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1780A>T (p.Ile594Phe) single nucleotide variant not provided [RCV002028997] Chr3:58106712 [GRCh38]
Chr3:58092439 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6590G>A (p.Arg2197Gln) single nucleotide variant Inborn genetic diseases [RCV004045443]|not provided [RCV001989268] Chr3:58153597 [GRCh38]
Chr3:58139324 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.3935C>T (p.Pro1312Leu) single nucleotide variant not provided [RCV001898336] Chr3:58125617 [GRCh38]
Chr3:58111344 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5873C>A (p.Pro1958His) single nucleotide variant not provided [RCV001992841] Chr3:58148350 [GRCh38]
Chr3:58134077 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1936G>C (p.Asp646His) single nucleotide variant not provided [RCV002027611] Chr3:58106868 [GRCh38]
Chr3:58092595 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys) single nucleotide variant Atelosteogenesis type III [RCV002254360]|not provided [RCV001933489] Chr3:58134690 [GRCh38]
Chr3:58120417 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4760G>A (p.Arg1587His) single nucleotide variant not provided [RCV001977898] Chr3:58136067 [GRCh38]
Chr3:58121794 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.4511G>A (p.Arg1504His) single nucleotide variant not provided [RCV001979530] Chr3:58132928 [GRCh38]
Chr3:58118655 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5740C>T (p.Arg1914Trp) single nucleotide variant not provided [RCV001919897] Chr3:58148217 [GRCh38]
Chr3:58133944 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_001457.4(FLNB):c.1162G>A (p.Asp388Asn) single nucleotide variant not provided [RCV001901242] Chr3:58098725 [GRCh38]
Chr3:58084452 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1887C>G (p.Asp629Glu) single nucleotide variant not provided [RCV001869996] Chr3:58106819 [GRCh38]
Chr3:58092546 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1402C>T (p.Arg468Cys) single nucleotide variant FLNB-related disorder [RCV004538565]|not provided [RCV001880665] Chr3:58102259 [GRCh38]
Chr3:58087986 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2670C>T (p.Gly890=) single nucleotide variant not provided [RCV002032129] Chr3:58112243 [GRCh38]
Chr3:58097970 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2745+2T>C single nucleotide variant not provided [RCV001978030] Chr3:58112320 [GRCh38]
Chr3:58098047 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.2734C>G (p.Pro912Ala) single nucleotide variant not provided [RCV001878868] Chr3:58112307 [GRCh38]
Chr3:58098034 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1399G>A (p.Val467Ile) single nucleotide variant not provided [RCV002014742] Chr3:58102256 [GRCh38]
Chr3:58087983 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6367+7G>A single nucleotide variant not provided [RCV002109833] Chr3:58150234 [GRCh38]
Chr3:58135961 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.788-7G>A single nucleotide variant not provided [RCV002168010] Chr3:58094829 [GRCh38]
Chr3:58080556 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3954C>T (p.Phe1318=) single nucleotide variant not provided [RCV002126962] Chr3:58125636 [GRCh38]
Chr3:58111363 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5070C>T (p.Phe1690=) single nucleotide variant not provided [RCV002147287] Chr3:58138490 [GRCh38]
Chr3:58124217 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6794A>G (p.Lys2265Arg) single nucleotide variant not provided [RCV002223365] Chr3:58155981 [GRCh38]
Chr3:58141708 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2357G>A (p.Arg786Gln) single nucleotide variant not provided [RCV002107599] Chr3:58110043 [GRCh38]
Chr3:58095770 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1791C>T (p.Asn597=) single nucleotide variant not provided [RCV002204957] Chr3:58106723 [GRCh38]
Chr3:58092450 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7719C>T (p.Tyr2573=) single nucleotide variant not provided [RCV002207820] Chr3:58170672 [GRCh38]
Chr3:58156399 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5883C>T (p.His1961=) single nucleotide variant not provided [RCV002089453] Chr3:58148360 [GRCh38]
Chr3:58134087 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2172C>T (p.Gly724=) single nucleotide variant not provided [RCV002075067] Chr3:58109295 [GRCh38]
Chr3:58095022 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1147+19A>G single nucleotide variant not provided [RCV002128330] Chr3:58097996 [GRCh38]
Chr3:58083723 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1747+15C>A single nucleotide variant not provided [RCV002127908] Chr3:58105231 [GRCh38]
Chr3:58090958 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2856G>A (p.Leu952=) single nucleotide variant not provided [RCV002112128] Chr3:58118982 [GRCh38]
Chr3:58104709 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3009G>A (p.Thr1003=) single nucleotide variant not provided [RCV002192296] Chr3:58121386 [GRCh38]
Chr3:58107113 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2457C>T (p.Tyr819=) single nucleotide variant not provided [RCV002147331] Chr3:58110143 [GRCh38]
Chr3:58095870 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.639+17C>G single nucleotide variant not provided [RCV002207317] Chr3:58078831 [GRCh38]
Chr3:58064558 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6091+9G>A single nucleotide variant not provided [RCV002189207] Chr3:58148861 [GRCh38]
Chr3:58134588 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.162C>G (p.Leu54=) single nucleotide variant not provided [RCV002204930] Chr3:58008726 [GRCh38]
Chr3:57994453 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7439G>A (p.Gly2480Asp) single nucleotide variant not provided [RCV002089115] Chr3:58169611 [GRCh38]
Chr3:58155338 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2745+17C>G single nucleotide variant not provided [RCV002106810] Chr3:58112335 [GRCh38]
Chr3:58098062 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3032A>C (p.Glu1011Ala) single nucleotide variant not provided [RCV002209338] Chr3:58121409 [GRCh38]
Chr3:58107136 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val) single nucleotide variant Atelosteogenesis type III [RCV002227704] Chr3:58168592 [GRCh38]
Chr3:58154319 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4008T>G (p.Pro1336=) single nucleotide variant not provided [RCV002189884] Chr3:58125690 [GRCh38]
Chr3:58111417 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3176C>T (p.Ala1059Val) single nucleotide variant Connective tissue disorder [RCV002277031]|not provided [RCV002091745] Chr3:58123142 [GRCh38]
Chr3:58108869 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.1545T>C (p.Tyr515=) single nucleotide variant not provided [RCV002165030] Chr3:58104020 [GRCh38]
Chr3:58089747 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2200-11G>C single nucleotide variant not provided [RCV002091888] Chr3:58109565 [GRCh38]
Chr3:58095292 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2184G>A (p.Pro728=) single nucleotide variant not provided [RCV002074600] Chr3:58109307 [GRCh38]
Chr3:58095034 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5066G>A (p.Arg1689His) single nucleotide variant not provided [RCV002247219] Chr3:58138486 [GRCh38]
Chr3:58124213 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3263C>A (p.Ser1088Tyr) single nucleotide variant not specified [RCV002247839] Chr3:58123229 [GRCh38]
Chr3:58108956 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3051C>T (p.Asp1017=) single nucleotide variant not provided [RCV002126822] Chr3:58121428 [GRCh38]
Chr3:58107155 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4206A>T (p.Gly1402=) single nucleotide variant not provided [RCV002087277] Chr3:58126746 [GRCh38]
Chr3:58112473 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7737C>A (p.Gly2579=) single nucleotide variant not provided [RCV002104851] Chr3:58170690 [GRCh38]
Chr3:58156417 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2121A>T (p.Ser707=) single nucleotide variant not provided [RCV002089066] Chr3:58109244 [GRCh38]
Chr3:58094971 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.984+15C>G single nucleotide variant not provided [RCV002145181] Chr3:58096233 [GRCh38]
Chr3:58081960 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4980C>T (p.Ala1660=) single nucleotide variant not provided [RCV002109895] Chr3:58138400 [GRCh38]
Chr3:58124127 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5148G>A (p.Pro1716=) single nucleotide variant not provided [RCV002128168] Chr3:58141896 [GRCh38]
Chr3:58127623 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1590G>A (p.Gly530=) single nucleotide variant not provided [RCV002130397] Chr3:58104065 [GRCh38]
Chr3:58089792 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7758G>A (p.Lys2586=) single nucleotide variant not provided [RCV002167870] Chr3:58170711 [GRCh38]
Chr3:58156438 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.118C>T (p.Leu40=) single nucleotide variant not provided [RCV002107032] Chr3:58008682 [GRCh38]
Chr3:57994409 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2865G>A (p.Arg955=) single nucleotide variant not provided [RCV002087283] Chr3:58121242 [GRCh38]
Chr3:58106969 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6753T>C (p.Ser2251=) single nucleotide variant not provided [RCV002147342] Chr3:58154909 [GRCh38]
Chr3:58140636 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5887+7T>G single nucleotide variant not provided [RCV002193382] Chr3:58148371 [GRCh38]
Chr3:58134098 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7232G>A (p.Arg2411Gln) single nucleotide variant not provided [RCV002115528] Chr3:58168473 [GRCh38]
Chr3:58154200 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5741G>A (p.Arg1914Gln) single nucleotide variant Inborn genetic diseases [RCV003289450]|not provided [RCV002134942] Chr3:58148218 [GRCh38]
Chr3:58133945 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5554+17G>A single nucleotide variant not provided [RCV002135332] Chr3:58146066 [GRCh38]
Chr3:58131793 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6321C>T (p.Ser2107=) single nucleotide variant Inborn genetic diseases [RCV004045648]|not provided [RCV002213339] Chr3:58150181 [GRCh38]
Chr3:58135908 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6525C>T (p.His2175=) single nucleotide variant not provided [RCV002086624] Chr3:58153532 [GRCh38]
Chr3:58139259 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5843G>A (p.Arg1948Gln) single nucleotide variant not provided [RCV002117118] Chr3:58148320 [GRCh38]
Chr3:58134047 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.7622-7C>G single nucleotide variant not provided [RCV002112649] Chr3:58170568 [GRCh38]
Chr3:58156295 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6091+8T>G single nucleotide variant not provided [RCV002093045] Chr3:58148860 [GRCh38]
Chr3:58134587 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6954G>A (p.Lys2318=) single nucleotide variant not provided [RCV002135080] Chr3:58159619 [GRCh38]
Chr3:58145346 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6330T>C (p.Thr2110=) single nucleotide variant not provided [RCV002094504] Chr3:58150190 [GRCh38]
Chr3:58135917 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.126C>T (p.Thr42=) single nucleotide variant not provided [RCV002209767] Chr3:58008690 [GRCh38]
Chr3:57994417 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4515-14G>A single nucleotide variant not provided [RCV002191728] Chr3:58134602 [GRCh38]
Chr3:58120329 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6252A>G (p.Pro2084=) single nucleotide variant not provided [RCV002078552] Chr3:58150112 [GRCh38]
Chr3:58135839 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6368-14C>T single nucleotide variant not provided [RCV002125172] Chr3:58153361 [GRCh38]
Chr3:58139088 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1500G>T (p.Leu500=) single nucleotide variant not provided [RCV002096974] Chr3:58103975 [GRCh38]
Chr3:58089702 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6773-10G>T single nucleotide variant not provided [RCV002172900] Chr3:58155950 [GRCh38]
Chr3:58141677 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.510C>T (p.Ala170=) single nucleotide variant not provided [RCV002215703] Chr3:58077263 [GRCh38]
Chr3:58062990 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2773G>A (p.Gly925Ser) single nucleotide variant not provided [RCV002075651] Chr3:58118899 [GRCh38]
Chr3:58104626 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4989T>C (p.Asp1663=) single nucleotide variant not provided [RCV002130243] Chr3:58138409 [GRCh38]
Chr3:58124136 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2575+17A>G single nucleotide variant not provided [RCV002076910] Chr3:58111898 [GRCh38]
Chr3:58097625 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1641G>A (p.Ala547=) single nucleotide variant not provided [RCV002090400] Chr3:58105110 [GRCh38]
Chr3:58090837 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5355T>C (p.Thr1785=) single nucleotide variant not provided [RCV002214601] Chr3:58143543 [GRCh38]
Chr3:58129270 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6396C>T (p.His2132=) single nucleotide variant not provided [RCV002214011] Chr3:58153403 [GRCh38]
Chr3:58139130 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5285-19G>A single nucleotide variant not provided [RCV002132562] Chr3:58143454 [GRCh38]
Chr3:58129181 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6728A>G (p.His2243Arg) single nucleotide variant not provided [RCV002150786] Chr3:58154884 [GRCh38]
Chr3:58140611 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6368-17C>T single nucleotide variant not provided [RCV002135297] Chr3:58153358 [GRCh38]
Chr3:58139085 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2485-17C>T single nucleotide variant not provided [RCV002094534] Chr3:58111774 [GRCh38]
Chr3:58097501 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4061+13C>G single nucleotide variant not provided [RCV002146000] Chr3:58125756 [GRCh38]
Chr3:58111483 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1272C>T (p.Gly424=) single nucleotide variant not provided [RCV002131507] Chr3:58098835 [GRCh38]
Chr3:58084562 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1872C>T (p.Asp624=) single nucleotide variant not provided [RCV002150985] Chr3:58106804 [GRCh38]
Chr3:58092531 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1941+9G>T single nucleotide variant not provided [RCV002110822] Chr3:58106882 [GRCh38]
Chr3:58092609 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1110C>T (p.Ile370=) single nucleotide variant not provided [RCV002076548] Chr3:58097940 [GRCh38]
Chr3:58083667 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2115A>G (p.Ala705=) single nucleotide variant not provided [RCV002213218] Chr3:58109238 [GRCh38]
Chr3:58094965 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3724+13_3724+16del deletion not provided [RCV002078942] Chr3:58123703..58123706 [GRCh38]
Chr3:58109430..58109433 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.849C>T (p.Ser283=) single nucleotide variant not provided [RCV002151948] Chr3:58094897 [GRCh38]
Chr3:58080624 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2196C>T (p.Tyr732=) single nucleotide variant not provided [RCV002109731] Chr3:58109319 [GRCh38]
Chr3:58095046 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4062-13C>G single nucleotide variant not provided [RCV002130779] Chr3:58126589 [GRCh38]
Chr3:58112316 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.5481C>T (p.Tyr1827=) single nucleotide variant not provided [RCV002149841] Chr3:58145976 [GRCh38]
Chr3:58131703 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5790C>T (p.Ile1930=) single nucleotide variant not provided [RCV002194320] Chr3:58148267 [GRCh38]
Chr3:58133994 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4062-5T>C single nucleotide variant not provided [RCV002130899] Chr3:58126597 [GRCh38]
Chr3:58112324 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1148-15C>G single nucleotide variant not provided [RCV002077711] Chr3:58098696 [GRCh38]
Chr3:58084423 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.293-17T>G single nucleotide variant not provided [RCV002115976] Chr3:58077029 [GRCh38]
Chr3:58062756 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3787G>A (p.Gly1263Ser) single nucleotide variant not provided [RCV002134465] Chr3:58124394 [GRCh38]
Chr3:58110121 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1953C>T (p.Tyr651=) single nucleotide variant Connective tissue disorder [RCV002277010]|not provided [RCV002213133] Chr3:58108469 [GRCh38]
Chr3:58094196 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4953G>T (p.Thr1651=) single nucleotide variant not provided [RCV002189023] Chr3:58138373 [GRCh38]
Chr3:58124100 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5817G>A (p.Thr1939=) single nucleotide variant not provided [RCV002212313] Chr3:58148294 [GRCh38]
Chr3:58134021 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5187C>T (p.Thr1729=) single nucleotide variant not provided [RCV002132762] Chr3:58142655 [GRCh38]
Chr3:58128382 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2575+13G>A single nucleotide variant not provided [RCV002097105] Chr3:58111894 [GRCh38]
Chr3:58097621 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4967A>T (p.Asp1656Val) single nucleotide variant Larsen syndrome [RCV002077382] Chr3:58138387 [GRCh38]
Chr3:58124114 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1893G>A (p.Pro631=) single nucleotide variant not provided [RCV002115042] Chr3:58106825 [GRCh38]
Chr3:58092552 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3381T>C (p.Ile1127=) single nucleotide variant not provided [RCV002099572] Chr3:58123347 [GRCh38]
Chr3:58109074 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7476A>G (p.Ser2492=) single nucleotide variant not provided [RCV002177668] Chr3:58169648 [GRCh38]
Chr3:58155375 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6490G>A (p.Val2164Met) single nucleotide variant not provided [RCV002158337] Chr3:58153497 [GRCh38]
Chr3:58139224 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5426-11C>T single nucleotide variant not provided [RCV002137714] Chr3:58145910 [GRCh38]
Chr3:58131637 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2071C>T (p.Arg691Cys) single nucleotide variant not provided [RCV002200278] Chr3:58109194 [GRCh38]
Chr3:58094921 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.1942-12C>T single nucleotide variant not provided [RCV002204139] Chr3:58108446 [GRCh38]
Chr3:58094173 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.541+13G>C single nucleotide variant not provided [RCV002084473] Chr3:58077307 [GRCh38]
Chr3:58063034 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5554+18_5554+27del deletion not provided [RCV002199057] Chr3:58146063..58146072 [GRCh38]
Chr3:58131790..58131799 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5388T>C (p.His1796=) single nucleotide variant not provided [RCV002180450] Chr3:58143576 [GRCh38]
Chr3:58129303 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.684C>T (p.His228=) single nucleotide variant not provided [RCV002144288] Chr3:58081673 [GRCh38]
Chr3:58067400 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4062-12C>T single nucleotide variant not provided [RCV002153939] Chr3:58126590 [GRCh38]
Chr3:58112317 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7659C>G (p.Thr2553=) single nucleotide variant not provided [RCV002161694] Chr3:58170612 [GRCh38]
Chr3:58156339 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6G>A (p.Pro2=) single nucleotide variant not provided [RCV002154405] Chr3:58008570 [GRCh38]
Chr3:57994297 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.787+11G>T single nucleotide variant not provided [RCV002200164] Chr3:58081787 [GRCh38]
Chr3:58067514 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4061+9G>A single nucleotide variant not provided [RCV002162126] Chr3:58125752 [GRCh38]
Chr3:58111479 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4065C>T (p.Gly1355=) single nucleotide variant not provided [RCV002124245] Chr3:58126605 [GRCh38]
Chr3:58112332 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2594C>T (p.Pro865Leu) single nucleotide variant not provided [RCV002099270] Chr3:58112167 [GRCh38]
Chr3:58097894 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6635-19G>C single nucleotide variant not provided [RCV002161115] Chr3:58154772 [GRCh38]
Chr3:58140499 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3393T>C (p.Phe1131=) single nucleotide variant not provided [RCV002164569] Chr3:58123359 [GRCh38]
Chr3:58109086 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6147G>A (p.Thr2049=) single nucleotide variant not provided [RCV002117914] Chr3:58149905 [GRCh38]
Chr3:58135632 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6245-5T>C single nucleotide variant not provided [RCV002102093] Chr3:58150100 [GRCh38]
Chr3:58135827 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4986C>T (p.Ala1662=) single nucleotide variant Atelosteogenesis type III [RCV002486838]|not provided [RCV002219023] Chr3:58138406 [GRCh38]
Chr3:58124133 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.292+15C>T single nucleotide variant not provided [RCV002137971] Chr3:58008871 [GRCh38]
Chr3:57994598 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4175C>T (p.Pro1392Leu) single nucleotide variant not provided [RCV002221058] Chr3:58126715 [GRCh38]
Chr3:58112442 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2208C>A (p.Ile736=) single nucleotide variant not provided [RCV002155231] Chr3:58109584 [GRCh38]
Chr3:58095311 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5181+12G>T single nucleotide variant not provided [RCV002140238] Chr3:58141941 [GRCh38]
Chr3:58127668 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2376G>A (p.Glu792=) single nucleotide variant not provided [RCV002135871] Chr3:58110062 [GRCh38]
Chr3:58095789 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3801G>A (p.Lys1267=) single nucleotide variant not provided [RCV002203405] Chr3:58124408 [GRCh38]
Chr3:58110135 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3724+26_3724+36del deletion not provided [RCV002081864] Chr3:58123704..58123714 [GRCh38]
Chr3:58109431..58109441 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3324C>T (p.Phe1108=) single nucleotide variant not provided [RCV002202261] Chr3:58123290 [GRCh38]
Chr3:58109017 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.542-17T>C single nucleotide variant not provided [RCV002104028] Chr3:58078700 [GRCh38]
Chr3:58064427 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4677A>G (p.Gln1559=) single nucleotide variant not provided [RCV002120425] Chr3:58135984 [GRCh38]
Chr3:58121711 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7038C>T (p.Arg2346=) single nucleotide variant not provided [RCV002122090] Chr3:58163170 [GRCh38]
Chr3:58148897 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1326C>T (p.Phe442=) single nucleotide variant not provided [RCV002181792] Chr3:58098889 [GRCh38]
Chr3:58084616 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.123G>A (p.Gln41=) single nucleotide variant not provided [RCV002184376] Chr3:58008687 [GRCh38]
Chr3:57994414 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4062-11A>G single nucleotide variant not provided [RCV002176796] Chr3:58126591 [GRCh38]
Chr3:58112318 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2484+5G>A single nucleotide variant not provided [RCV003110517] Chr3:58110175 [GRCh38]
Chr3:58095902 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4222G>A (p.Gly1408Ser) single nucleotide variant Larsen syndrome [RCV003991485]|not provided [RCV003110307] Chr3:58126762 [GRCh38]
Chr3:58112489 [GRCh37]
Chr3:3p14.3		 pathogenic|uncertain significance
NM_001457.4(FLNB):c.4693A>G (p.Arg1565Gly) single nucleotide variant not provided [RCV003116993] Chr3:58136000 [GRCh38]
Chr3:58121727 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1171G>C (p.Val391Leu) single nucleotide variant not provided [RCV003117033] Chr3:58098734 [GRCh38]
Chr3:58084461 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2290C>G (p.His764Asp) single nucleotide variant not provided [RCV003112104] Chr3:58109666 [GRCh38]
Chr3:58095393 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5510A>G (p.Asn1837Ser) single nucleotide variant not provided [RCV003121829] Chr3:58146005 [GRCh38]
Chr3:58131732 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1484-6C>G single nucleotide variant not provided [RCV003123241] Chr3:58103953 [GRCh38]
Chr3:58089680 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3573G>A (p.Ala1191=) single nucleotide variant not provided [RCV003118645] Chr3:58123539 [GRCh38]
Chr3:58109266 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5887+16C>G single nucleotide variant not provided [RCV003122098] Chr3:58148380 [GRCh38]
Chr3:58134107 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7624T>C (p.Ser2542Pro) single nucleotide variant Larsen syndrome [RCV003148559] Chr3:58170577 [GRCh38]
Chr3:58156304 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7333A>T (p.Met2445Leu) single nucleotide variant not provided [RCV003144014] Chr3:58168574 [GRCh38]
Chr3:58154301 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7577T>A (p.Phe2526Tyr) single nucleotide variant not provided [RCV003144016] Chr3:58169749 [GRCh38]
Chr3:58155476 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4807C>T (p.Pro1603Ser) single nucleotide variant Atelosteogenesis type I [RCV002249990] Chr3:58136114 [GRCh38]
Chr3:58121841 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.-5C>T single nucleotide variant not provided [RCV002255757] Chr3:58008560 [GRCh38]
Chr3:57994287 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1748G>A (p.Gly583Glu) single nucleotide variant not provided [RCV003144021] Chr3:58106680 [GRCh38]
Chr3:58092407 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4620T>C (p.Phe1540=) single nucleotide variant Connective tissue disorder [RCV002278736] Chr3:58134721 [GRCh38]
Chr3:58120448 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2560G>C (p.Gly854Arg) single nucleotide variant not provided [RCV002263326] Chr3:58111866 [GRCh38]
Chr3:58097593 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2569A>G (p.Lys857Glu) single nucleotide variant not provided [RCV002293740] Chr3:58111875 [GRCh38]
Chr3:58097602 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.698del (p.Tyr233fs) deletion Spondylocarpotarsal synostosis syndrome [RCV002283633] Chr3:58081687 [GRCh38]
Chr3:58067414 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.5379C>T (p.Val1793=) single nucleotide variant Connective tissue disorder [RCV002278738] Chr3:58143567 [GRCh38]
Chr3:58129294 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.541+1G>A single nucleotide variant Connective tissue disorder [RCV002278739] Chr3:58077295 [GRCh38]
Chr3:58063022 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.2484+8G>T single nucleotide variant not provided [RCV003101500]|not specified [RCV002266347] Chr3:58110178 [GRCh38]
Chr3:58095905 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3008C>T (p.Thr1003Met) single nucleotide variant Connective tissue disorder [RCV002278735]|not provided [RCV003096277] Chr3:58121385 [GRCh38]
Chr3:58107112 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4427A>G (p.Asp1476Gly) single nucleotide variant Larsen syndrome [RCV002289417] Chr3:58132844 [GRCh38]
Chr3:58118571 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4642G>A (p.Gly1548Arg) single nucleotide variant not provided [RCV002292086] Chr3:58134743 [GRCh38]
Chr3:58120470 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4604G>A (p.Ser1535Asn) single nucleotide variant Larsen syndrome [RCV002283427] Chr3:58134705 [GRCh38]
Chr3:58120432 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.5784C>T (p.Leu1928=) single nucleotide variant Connective tissue disorder [RCV002278740] Chr3:58148261 [GRCh38]
Chr3:58133988 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1884G>C (p.Lys628Asn) single nucleotide variant not provided [RCV002297729] Chr3:58106816 [GRCh38]
Chr3:58092543 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1528G>A (p.Val510Ile) single nucleotide variant Inborn genetic diseases [RCV003286536] Chr3:58104003 [GRCh38]
Chr3:58089730 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3625G>A (p.Gly1209Ser) single nucleotide variant not provided [RCV003144020] Chr3:58123591 [GRCh38]
Chr3:58109318 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3603G>A (p.Met1201Ile) single nucleotide variant not provided [RCV003144018] Chr3:58123569 [GRCh38]
Chr3:58109296 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3550A>T (p.Asn1184Tyr) single nucleotide variant not provided [RCV002474249] Chr3:58123516 [GRCh38]
Chr3:58109243 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1657del (p.Arg553fs) deletion not provided [RCV004588630] Chr3:58105125 [GRCh38]
Chr3:58090852 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.985-15_985-12del deletion not provided [RCV002726330] Chr3:58097798..58097801 [GRCh38]
Chr3:58083525..58083528 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4570G>C (p.Gly1524Arg) single nucleotide variant Larsen syndrome [RCV003153115] Chr3:58134671 [GRCh38]
Chr3:58120398 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.83A>T (p.Glu28Val) single nucleotide variant not provided [RCV003144015] Chr3:58008647 [GRCh38]
Chr3:57994374 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3770C>T (p.Pro1257Leu) single nucleotide variant not provided [RCV003144019] Chr3:58124377 [GRCh38]
Chr3:58110104 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.2704T>C (p.Tyr902His) single nucleotide variant not provided [RCV002295065] Chr3:58112277 [GRCh38]
Chr3:58098004 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2041A>G (p.Lys681Glu) single nucleotide variant not provided [RCV002304688] Chr3:58108557 [GRCh38]
Chr3:58094284 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2056-15_2056-10del deletion not provided [RCV003688960]|not specified [RCV002308719] Chr3:58109161..58109166 [GRCh38]
Chr3:58094888..58094893 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4219_4221delinsTCT (p.Pro1407Ser) indel not provided [RCV002300744] Chr3:58126759..58126761 [GRCh38]
Chr3:58112486..58112488 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3776C>G (p.Thr1259Ser) single nucleotide variant not provided [RCV002296680] Chr3:58124383 [GRCh38]
Chr3:58110110 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2126C>A (p.Thr709Asn) single nucleotide variant not provided [RCV002297931] Chr3:58109249 [GRCh38]
Chr3:58094976 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5245C>A (p.Leu1749Met) single nucleotide variant not provided [RCV002298314] Chr3:58142713 [GRCh38]
Chr3:58128440 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5756A>G (p.Lys1919Arg) single nucleotide variant not provided [RCV002296487] Chr3:58148233 [GRCh38]
Chr3:58133960 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3923A>G (p.Tyr1308Cys) single nucleotide variant not provided [RCV002300396] Chr3:58125605 [GRCh38]
Chr3:58111332 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.472A>G (p.Ile158Val) single nucleotide variant not provided [RCV002301689] Chr3:58077225 [GRCh38]
Chr3:58062952 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7226C>A (p.Thr2409Asn) single nucleotide variant not provided [RCV002301216] Chr3:58168467 [GRCh38]
Chr3:58154194 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2539A>G (p.Lys847Glu) single nucleotide variant not provided [RCV002300001] Chr3:58111845 [GRCh38]
Chr3:58097572 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2588G>A (p.Gly863Glu) single nucleotide variant not provided [RCV002300035] Chr3:58112161 [GRCh38]
Chr3:58097888 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.571C>A (p.Pro191Thr) single nucleotide variant not provided [RCV002308947] Chr3:58078746 [GRCh38]
Chr3:58064473 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3796A>G (p.Ile1266Val) single nucleotide variant not provided [RCV002296302] Chr3:58124403 [GRCh38]
Chr3:58110130 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.785G>A (p.Arg262Lys) single nucleotide variant not provided [RCV002303422] Chr3:58081774 [GRCh38]
Chr3:58067501 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.755T>C (p.Leu252Pro) single nucleotide variant not provided [RCV002301634] Chr3:58081744 [GRCh38]
Chr3:58067471 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.293A>G (p.Asp98Gly) single nucleotide variant not provided [RCV002302069] Chr3:58077046 [GRCh38]
Chr3:58062773 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1094A>C (p.Glu365Ala) single nucleotide variant not provided [RCV002837505] Chr3:58097924 [GRCh38]
Chr3:58083651 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4968T>C (p.Asp1656=) single nucleotide variant not provided [RCV002727324] Chr3:58138388 [GRCh38]
Chr3:58124115 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2873T>C (p.Val958Ala) single nucleotide variant not provided [RCV002771425] Chr3:58121250 [GRCh38]
Chr3:58106977 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5769C>A (p.Ala1923=) single nucleotide variant not provided [RCV002861513] Chr3:58148246 [GRCh38]
Chr3:58133973 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2416A>G (p.Thr806Ala) single nucleotide variant not provided [RCV002815446] Chr3:58110102 [GRCh38]
Chr3:58095829 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4740C>T (p.Tyr1580=) single nucleotide variant not provided [RCV002730354] Chr3:58136047 [GRCh38]
Chr3:58121774 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2638C>G (p.Leu880Val) single nucleotide variant not provided [RCV002880946] Chr3:58112211 [GRCh38]
Chr3:58097938 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7701G>A (p.Gln2567=) single nucleotide variant not provided [RCV003032905] Chr3:58170654 [GRCh38]
Chr3:58156381 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6909C>G (p.Asn2303Lys) single nucleotide variant Inborn genetic diseases [RCV002774442] Chr3:58159574 [GRCh38]
Chr3:58145301 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2766G>A (p.Val922=) single nucleotide variant not provided [RCV002904775] Chr3:58118892 [GRCh38]
Chr3:58104619 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6505G>A (p.Val2169Ile) single nucleotide variant not provided [RCV002616548] Chr3:58153512 [GRCh38]
Chr3:58139239 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5337C>A (p.Asn1779Lys) single nucleotide variant not provided [RCV003033500] Chr3:58143525 [GRCh38]
Chr3:58129252 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7106G>T (p.Ser2369Ile) single nucleotide variant not provided [RCV002775530] Chr3:58163238 [GRCh38]
Chr3:58148965 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.124A>G (p.Thr42Ala) single nucleotide variant not provided [RCV002815713] Chr3:58008688 [GRCh38]
Chr3:57994415 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1069G>A (p.Val357Ile) single nucleotide variant Inborn genetic diseases [RCV002959116]|not provided [RCV002971228] Chr3:58097899 [GRCh38]
Chr3:58083626 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6589C>T (p.Arg2197Trp) single nucleotide variant not provided [RCV002616445] Chr3:58153596 [GRCh38]
Chr3:58139323 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6115G>A (p.Val2039Met) single nucleotide variant not provided [RCV002616081] Chr3:58149873 [GRCh38]
Chr3:58135600 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2484+11G>C single nucleotide variant not provided [RCV003011957] Chr3:58110181 [GRCh38]
Chr3:58095908 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1100T>C (p.Val367Ala) single nucleotide variant not provided [RCV002617426] Chr3:58097930 [GRCh38]
Chr3:58083657 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2439T>G (p.Pro813=) single nucleotide variant not provided [RCV002618688] Chr3:58110125 [GRCh38]
Chr3:58095852 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3232G>A (p.Glu1078Lys) single nucleotide variant Inborn genetic diseases [RCV002905380]|not provided [RCV003777918] Chr3:58123198 [GRCh38]
Chr3:58108925 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2055+15G>T single nucleotide variant not provided [RCV002636215] Chr3:58108586 [GRCh38]
Chr3:58094313 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2080A>G (p.Ile694Val) single nucleotide variant not provided [RCV002750057] Chr3:58109203 [GRCh38]
Chr3:58094930 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3483G>A (p.Ala1161=) single nucleotide variant not provided [RCV003099079] Chr3:58123449 [GRCh38]
Chr3:58109176 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3313G>A (p.Gly1105Arg) single nucleotide variant not provided [RCV002820051] Chr3:58123279 [GRCh38]
Chr3:58109006 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3330C>T (p.Asn1110=) single nucleotide variant not provided [RCV003076061] Chr3:58123296 [GRCh38]
Chr3:58109023 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1490T>C (p.Leu497Pro) single nucleotide variant not provided [RCV002681768] Chr3:58103965 [GRCh38]
Chr3:58089692 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5337del (p.Asn1779fs) deletion not provided [RCV002816581] Chr3:58143525 [GRCh38]
Chr3:58129252 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6536G>A (p.Ser2179Asn) single nucleotide variant not provided [RCV002636205] Chr3:58153543 [GRCh38]
Chr3:58139270 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4041T>C (p.Asn1347=) single nucleotide variant not provided [RCV002685551] Chr3:58125723 [GRCh38]
Chr3:58111450 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6698C>A (p.Pro2233His) single nucleotide variant not provided [RCV002843817] Chr3:58154854 [GRCh38]
Chr3:58140581 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.640-17C>T single nucleotide variant not provided [RCV002794924] Chr3:58081612 [GRCh38]
Chr3:58067339 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3816C>G (p.Asn1272Lys) single nucleotide variant not provided [RCV002776188] Chr3:58124423 [GRCh38]
Chr3:58110150 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5729-17T>G single nucleotide variant not provided [RCV002756527] Chr3:58148189 [GRCh38]
Chr3:58133916 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6634+11C>G single nucleotide variant not provided [RCV002756545] Chr3:58153652 [GRCh38]
Chr3:58139379 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1408C>T (p.Arg470Trp) single nucleotide variant not provided [RCV002756014] Chr3:58102265 [GRCh38]
Chr3:58087992 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.162C>T (p.Leu54=) single nucleotide variant not provided [RCV002616066] Chr3:58008726 [GRCh38]
Chr3:57994453 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1413G>A (p.Glu471=) single nucleotide variant not provided [RCV003016448] Chr3:58102270 [GRCh38]
Chr3:58087997 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4061+16C>T single nucleotide variant not provided [RCV002794807] Chr3:58125759 [GRCh38]
Chr3:58111486 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6943G>A (p.Ala2315Thr) single nucleotide variant not provided [RCV002618643] Chr3:58159608 [GRCh38]
Chr3:58145335 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4305C>T (p.Val1435=) single nucleotide variant not provided [RCV002780024] Chr3:58130823 [GRCh38]
Chr3:58116550 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2162T>C (p.Val721Ala) single nucleotide variant not provided [RCV002751192] Chr3:58109285 [GRCh38]
Chr3:58095012 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.5385C>T (p.Leu1795=) single nucleotide variant not provided [RCV003015399] Chr3:58143573 [GRCh38]
Chr3:58129300 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5745C>A (p.Cys1915Ter) single nucleotide variant not provided [RCV002881516] Chr3:58148222 [GRCh38]
Chr3:58133949 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.63G>A (p.Thr21=) single nucleotide variant not provided [RCV002971108] Chr3:58008627 [GRCh38]
Chr3:57994354 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5210G>A (p.Ser1737Asn) single nucleotide variant not provided [RCV002730390] Chr3:58142678 [GRCh38]
Chr3:58128405 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1991A>G (p.Asn664Ser) single nucleotide variant Inborn genetic diseases [RCV002905270] Chr3:58108507 [GRCh38]
Chr3:58094234 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7623C>T (p.Gly2541=) single nucleotide variant not provided [RCV002616739] Chr3:58170576 [GRCh38]
Chr3:58156303 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2070A>C (p.Gln690His) single nucleotide variant not provided [RCV002815641] Chr3:58109193 [GRCh38]
Chr3:58094920 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6790A>G (p.Ile2264Val) single nucleotide variant Inborn genetic diseases [RCV003015472]|not provided [RCV002999760] Chr3:58155977 [GRCh38]
Chr3:58141704 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3631G>A (p.Glu1211Lys) single nucleotide variant not provided [RCV002993527] Chr3:58123597 [GRCh38]
Chr3:58109324 [GRCh37]
Chr3:3p14.3		 benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.2575+12C>A single nucleotide variant not provided [RCV002776521] Chr3:58111893 [GRCh38]
Chr3:58097620 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4862-15T>G single nucleotide variant not provided [RCV002881088] Chr3:58138267 [GRCh38]
Chr3:58123994 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6514C>T (p.Arg2172Cys) single nucleotide variant not provided [RCV002756341] Chr3:58153521 [GRCh38]
Chr3:58139248 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4051G>A (p.Val1351Met) single nucleotide variant not provided [RCV002775197] Chr3:58125733 [GRCh38]
Chr3:58111460 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2682G>T (p.Lys894Asn) single nucleotide variant not provided [RCV002819775] Chr3:58112255 [GRCh38]
Chr3:58097982 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2575+18G>A single nucleotide variant not provided [RCV002819776] Chr3:58111899 [GRCh38]
Chr3:58097626 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7051G>A (p.Glu2351Lys) single nucleotide variant not provided [RCV002727101] Chr3:58163183 [GRCh38]
Chr3:58148910 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1588G>A (p.Gly530Arg) single nucleotide variant not provided [RCV002907924] Chr3:58104063 [GRCh38]
Chr3:58089790 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2911dup (p.Ala971fs) duplication not provided [RCV002616579] Chr3:58121282..58121283 [GRCh38]
Chr3:58107009..58107010 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6338G>C (p.Ser2113Thr) single nucleotide variant Inborn genetic diseases [RCV004617062]|not provided [RCV002618154] Chr3:58150198 [GRCh38]
Chr3:58135925 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6889-3C>T single nucleotide variant not provided [RCV002996722] Chr3:58159551 [GRCh38]
Chr3:58145278 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.788-3C>T single nucleotide variant not provided [RCV002908325] Chr3:58094833 [GRCh38]
Chr3:58080560 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2839A>G (p.Ile947Val) single nucleotide variant not provided [RCV002816292] Chr3:58118965 [GRCh38]
Chr3:58104692 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1941+9G>A single nucleotide variant not provided [RCV003016237] Chr3:58106882 [GRCh38]
Chr3:58092609 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6367+10G>A single nucleotide variant not provided [RCV002996373] Chr3:58150237 [GRCh38]
Chr3:58135964 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6390G>A (p.Ser2130=) single nucleotide variant not provided [RCV002618016] Chr3:58153397 [GRCh38]
Chr3:58139124 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2644G>T (p.Val882Leu) single nucleotide variant not provided [RCV003074925] Chr3:58112217 [GRCh38]
Chr3:58097944 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.541+8G>A single nucleotide variant not provided [RCV002819237] Chr3:58077302 [GRCh38]
Chr3:58063029 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7328C>A (p.Thr2443Asn) single nucleotide variant Inborn genetic diseases [RCV002818418] Chr3:58168569 [GRCh38]
Chr3:58154296 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2057A>C (p.Asp686Ala) single nucleotide variant not provided [RCV002510126] Chr3:58109180 [GRCh38]
Chr3:58094907 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6187C>T (p.Pro2063Ser) single nucleotide variant Inborn genetic diseases [RCV003065391]|not provided [RCV003081367] Chr3:58149945 [GRCh38]
Chr3:58135672 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2485-6C>T single nucleotide variant not provided [RCV002825568] Chr3:58111785 [GRCh38]
Chr3:58097512 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7369G>A (p.Gly2457Ser) single nucleotide variant not provided [RCV002640387] Chr3:58168610 [GRCh38]
Chr3:58154337 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7122C>T (p.Arg2374=) single nucleotide variant not provided [RCV002785483] Chr3:58163254 [GRCh38]
Chr3:58148981 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.542-10C>T single nucleotide variant not provided [RCV002740416] Chr3:58078707 [GRCh38]
Chr3:58064434 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4672-6C>G single nucleotide variant not provided [RCV002913891] Chr3:58135973 [GRCh38]
Chr3:58121700 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6467G>A (p.Arg2156Gln) single nucleotide variant not provided [RCV002785932] Chr3:58153474 [GRCh38]
Chr3:58139201 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7125T>C (p.Val2375=) single nucleotide variant FLNB-related disorder [RCV004540532]|not provided [RCV003081592] Chr3:58163257 [GRCh38]
Chr3:58148984 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6367+11G>A single nucleotide variant not provided [RCV003055684] Chr3:58150238 [GRCh38]
Chr3:58135965 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7455C>T (p.Thr2485=) single nucleotide variant not provided [RCV002740352] Chr3:58169627 [GRCh38]
Chr3:58155354 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1611-11T>C single nucleotide variant not provided [RCV002795186] Chr3:58105069 [GRCh38]
Chr3:58090796 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7505A>G (p.Tyr2502Cys) single nucleotide variant not provided [RCV002800395] Chr3:58169677 [GRCh38]
Chr3:58155404 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6340A>G (p.Ile2114Val) single nucleotide variant not provided [RCV002593078] Chr3:58150200 [GRCh38]
Chr3:58150200..58150201 [GRCh38]
Chr3:58135927 [GRCh37]
Chr3:58135927..58135928 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7198+20C>T single nucleotide variant not provided [RCV002781050] Chr3:58163350 [GRCh38]
Chr3:58149077 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.477C>G (p.Thr159=) single nucleotide variant not provided [RCV002736478] Chr3:58077230 [GRCh38]
Chr3:58062957 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2868G>A (p.Val956=) single nucleotide variant not provided [RCV002847108] Chr3:58121245 [GRCh38]
Chr3:58106972 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1484-11C>T single nucleotide variant not provided [RCV002820473] Chr3:58103948 [GRCh38]
Chr3:58089675 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3255C>T (p.Ile1085=) single nucleotide variant not provided [RCV002795282] Chr3:58123221 [GRCh38]
Chr3:58108948 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1748-8C>G single nucleotide variant not provided [RCV002590874] Chr3:58106672 [GRCh38]
Chr3:58092399 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1833G>C (p.Lys611Asn) single nucleotide variant Inborn genetic diseases [RCV002845600]|not provided [RCV003777835] Chr3:58106765 [GRCh38]
Chr3:58092492 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3127-12T>C single nucleotide variant not provided [RCV002570105] Chr3:58123081 [GRCh38]
Chr3:58108808 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4785G>T (p.Gly1595=) single nucleotide variant not provided [RCV002909386] Chr3:58136092 [GRCh38]
Chr3:58121819 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4455A>G (p.Pro1485=) single nucleotide variant not provided [RCV002591824] Chr3:58132872 [GRCh38]
Chr3:58118599 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3026G>A (p.Arg1009Gln) single nucleotide variant not provided [RCV003078495] Chr3:58121403 [GRCh38]
Chr3:58107130 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5554+19_5554+20del microsatellite not provided [RCV002909793] Chr3:58146066..58146067 [GRCh38]
Chr3:58131793..58131794 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5990C>T (p.Ser1997Leu) single nucleotide variant not provided [RCV002795504] Chr3:58148751 [GRCh38]
Chr3:58134478 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.273C>T (p.Ser91=) single nucleotide variant not provided [RCV002846597] Chr3:58008837 [GRCh38]
Chr3:57994564 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1892C>T (p.Pro631Leu) single nucleotide variant not provided [RCV002795575] Chr3:58106824 [GRCh38]
Chr3:58092551 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4962C>G (p.Thr1654=) single nucleotide variant not provided [RCV002847087] Chr3:58138382 [GRCh38]
Chr3:58124109 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7441T>C (p.Ser2481Pro) single nucleotide variant not provided [RCV002785500] Chr3:58169613 [GRCh38]
Chr3:58155340 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1111G>A (p.Ala371Thr) single nucleotide variant not provided [RCV002952836] Chr3:58097941 [GRCh38]
Chr3:58083668 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3707C>A (p.Pro1236Gln) single nucleotide variant not provided [RCV002695051] Chr3:58123673 [GRCh38]
Chr3:58109400 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3304A>G (p.Thr1102Ala) single nucleotide variant not provided [RCV002619120] Chr3:58123270 [GRCh38]
Chr3:58108997 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.796C>T (p.Pro266Ser) single nucleotide variant not provided [RCV003018329] Chr3:58094844 [GRCh38]
Chr3:58080571 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2742A>G (p.Gln914=) single nucleotide variant not provided [RCV002885397] Chr3:58112315 [GRCh38]
Chr3:58098042 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4014del (p.Glu1340fs) deletion not provided [RCV003018008] Chr3:58125696 [GRCh38]
Chr3:58111423 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4298C>T (p.Ser1433Leu) single nucleotide variant Inborn genetic diseases [RCV003035501]|not provided [RCV003055165] Chr3:58130816 [GRCh38]
Chr3:58116543 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.702G>T (p.Leu234=) single nucleotide variant not provided [RCV002621155] Chr3:58081691 [GRCh38]
Chr3:58067418 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3597C>T (p.Ala1199=) single nucleotide variant not provided [RCV002761101] Chr3:58123563 [GRCh38]
Chr3:58109290 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4426G>C (p.Asp1476His) single nucleotide variant not provided [RCV002976653] Chr3:58132843 [GRCh38]
Chr3:58118570 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5110-14T>C single nucleotide variant not provided [RCV002846533] Chr3:58141844 [GRCh38]
Chr3:58127571 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5110-7T>A single nucleotide variant not provided [RCV002846534] Chr3:58141851 [GRCh38]
Chr3:58127578 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1615T>C (p.Phe539Leu) single nucleotide variant not provided [RCV002923278] Chr3:58105084 [GRCh38]
Chr3:58090811 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2864G>A (p.Arg955Lys) single nucleotide variant not provided [RCV002570853] Chr3:58121241 [GRCh38]
Chr3:58106968 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5208G>A (p.Val1736=) single nucleotide variant not provided [RCV002691259] Chr3:58142676 [GRCh38]
Chr3:58128403 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4575C>T (p.Pro1525=) single nucleotide variant FLNB-related disorder [RCV004540535]|not provided [RCV003079750] Chr3:58134676 [GRCh38]
Chr3:58120403 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.293-6C>T single nucleotide variant not provided [RCV002909548] Chr3:58077040 [GRCh38]
Chr3:58062767 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1703C>T (p.Ala568Val) single nucleotide variant not provided [RCV002622439] Chr3:58105172 [GRCh38]
Chr3:58090899 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1697G>C (p.Arg566Pro) single nucleotide variant FLNB-related disorder [RCV004538865]|Inborn genetic diseases [RCV002821332]|not provided [RCV003669333] Chr3:58105166 [GRCh38]
Chr3:58090893 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4245G>A (p.Val1415=) single nucleotide variant not provided [RCV002705908] Chr3:58130763 [GRCh38]
Chr3:58116490 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7245G>T (p.Gly2415=) single nucleotide variant not provided [RCV002797209] Chr3:58168486 [GRCh38]
Chr3:58154213 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7550C>T (p.Ser2517Phe) single nucleotide variant not provided [RCV002639081] Chr3:58169722 [GRCh38]
Chr3:58155449 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3018C>T (p.Phe1006=) single nucleotide variant not provided [RCV003080878] Chr3:58121395 [GRCh38]
Chr3:58107122 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3643C>T (p.His1215Tyr) single nucleotide variant Inborn genetic diseases [RCV004617144]|not provided [RCV002976647] Chr3:58123609 [GRCh38]
Chr3:58109336 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7263C>T (p.Ile2421=) single nucleotide variant not provided [RCV002706429] Chr3:58168504 [GRCh38]
Chr3:58154231 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6613A>G (p.Arg2205Gly) single nucleotide variant FLNB-related disorder [RCV004736205]|not provided [RCV002761629] Chr3:58153620 [GRCh38]
Chr3:58139347 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2908G>T (p.Gly970Trp) single nucleotide variant Inborn genetic diseases [RCV002633181]|not provided [RCV002621106] Chr3:58121285 [GRCh38]
Chr3:58107012 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4050C>A (p.Thr1350=) single nucleotide variant not provided [RCV002591881] Chr3:58125732 [GRCh38]
Chr3:58111459 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1658G>A (p.Arg553His) single nucleotide variant not provided [RCV002780694] Chr3:58105127 [GRCh38]
Chr3:58090854 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.6582C>G (p.His2194Gln) single nucleotide variant not provided [RCV003018898] Chr3:58153589 [GRCh38]
Chr3:58139316 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.515G>T (p.Gly172Val) single nucleotide variant not provided [RCV003002390] Chr3:58077268 [GRCh38]
Chr3:58062995 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2575+6A>G single nucleotide variant not provided [RCV003002394] Chr3:58111887 [GRCh38]
Chr3:58097614 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1142C>T (p.Thr381Met) single nucleotide variant Inborn genetic diseases [RCV002785426]|not provided [RCV002785425] Chr3:58097972 [GRCh38]
Chr3:58083699 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.3104C>T (p.Ser1035Leu) single nucleotide variant not provided [RCV002909800] Chr3:58121481 [GRCh38]
Chr3:58107208 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4388G>A (p.Arg1463Gln) single nucleotide variant not provided [RCV002705203] Chr3:58130906 [GRCh38]
Chr3:58116633 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3734G>A (p.Arg1245Gln) single nucleotide variant not provided [RCV003100444] Chr3:58124341 [GRCh38]
Chr3:58110068 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.5707C>T (p.Pro1903Ser) single nucleotide variant not provided [RCV003037571] Chr3:58146972 [GRCh38]
Chr3:58132699 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.293-11T>G single nucleotide variant not provided [RCV002885280] Chr3:58077035 [GRCh38]
Chr3:58062762 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3695_3696del (p.Lys1232fs) deletion not provided [RCV003054619] Chr3:58123660..58123661 [GRCh38]
Chr3:58109387..58109388 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6244+2dup duplication not provided [RCV002866977] Chr3:58150003..58150004 [GRCh38]
Chr3:58135730..58135731 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1115A>G (p.Asn372Ser) single nucleotide variant not provided [RCV002666931] Chr3:58097945 [GRCh38]
Chr3:58083672 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3187A>G (p.Ile1063Val) single nucleotide variant Inborn genetic diseases [RCV002665332]|not provided [RCV003730252] Chr3:58123153 [GRCh38]
Chr3:58108880 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4987G>A (p.Asp1663Asn) single nucleotide variant not provided [RCV002595600] Chr3:58138407 [GRCh38]
Chr3:58124134 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.968T>G (p.Val323Gly) single nucleotide variant not provided [RCV002801391] Chr3:58096202 [GRCh38]
Chr3:58081929 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6453C>T (p.Asn2151=) single nucleotide variant not provided [RCV002828403] Chr3:58153460 [GRCh38]
Chr3:58139187 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6773-8C>T single nucleotide variant not provided [RCV002700786] Chr3:58155952 [GRCh38]
Chr3:58141679 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4303G>A (p.Val1435Ile) single nucleotide variant Inborn genetic diseases [RCV003340505]|not provided [RCV002573796] Chr3:58130821 [GRCh38]
Chr3:58116548 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6614GAG[1] (p.Gly2206del) microsatellite not provided [RCV002894586] Chr3:58153621..58153623 [GRCh38]
Chr3:58139348..58139350 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4071A>G (p.Gly1357=) single nucleotide variant not provided [RCV002830097] Chr3:58126611 [GRCh38]
Chr3:58112338 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6024T>C (p.Tyr2008=) single nucleotide variant not provided [RCV002701474] Chr3:58148785 [GRCh38]
Chr3:58134512 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.181C>G (p.Arg61Gly) single nucleotide variant not provided [RCV002623718] Chr3:58008745 [GRCh38]
Chr3:57994472 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5841C>T (p.Gly1947=) single nucleotide variant not provided [RCV002597308] Chr3:58148318 [GRCh38]
Chr3:58134045 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5332G>A (p.Asp1778Asn) single nucleotide variant Inborn genetic diseases [RCV004617089]|not provided [RCV002766310] Chr3:58143520 [GRCh38]
Chr3:58129247 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4776C>G (p.Val1592=) single nucleotide variant not provided [RCV002805537] Chr3:58136083 [GRCh38]
Chr3:58121810 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2200-13A>T single nucleotide variant not provided [RCV003003366] Chr3:58109563 [GRCh38]
Chr3:58095290 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6863_6868del (p.Arg2288_Arg2289del) deletion not provided [RCV002623326] Chr3:58156048..58156053 [GRCh38]
Chr3:58141775..58141780 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6577G>A (p.Ala2193Thr) single nucleotide variant Inborn genetic diseases [RCV002645423] Chr3:58153584 [GRCh38]
Chr3:58139311 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7709A>C (p.Asn2570Thr) single nucleotide variant not provided [RCV002576332] Chr3:58170662 [GRCh38]
Chr3:58156389 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4474A>G (p.Met1492Val) single nucleotide variant not provided [RCV002643838] Chr3:58132891 [GRCh38]
Chr3:58118618 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4738T>G (p.Tyr1580Asp) single nucleotide variant not provided [RCV002919177] Chr3:58136045 [GRCh38]
Chr3:58121772 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4332G>A (p.Thr1444=) single nucleotide variant not provided [RCV002626050] Chr3:58130850 [GRCh38]
Chr3:58116577 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3815A>G (p.Asn1272Ser) single nucleotide variant not provided [RCV002597115] Chr3:58124422 [GRCh38]
Chr3:58110149 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1711G>T (p.Val571Leu) single nucleotide variant not provided [RCV003023268] Chr3:58105180 [GRCh38]
Chr3:58090907 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6404G>C (p.Ser2135Thr) single nucleotide variant not provided [RCV003025349] Chr3:58153411 [GRCh38]
Chr3:58139138 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3150C>T (p.Leu1050=) single nucleotide variant not provided [RCV002626541] Chr3:58123116 [GRCh38]
Chr3:58108843 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3734G>C (p.Arg1245Pro) single nucleotide variant not provided [RCV002765915] Chr3:58124341 [GRCh38]
Chr3:58110068 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1665G>A (p.Trp555Ter) single nucleotide variant not provided [RCV002871802] Chr3:58105134 [GRCh38]
Chr3:58090861 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4006C>A (p.Pro1336Thr) single nucleotide variant Inborn genetic diseases [RCV002827467]|not provided [RCV003111685] Chr3:58125688 [GRCh38]
Chr3:58111415 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4352G>A (p.Gly1451Asp) single nucleotide variant not provided [RCV003041077] Chr3:58130870 [GRCh38]
Chr3:58116597 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.788-17G>A single nucleotide variant not provided [RCV002710674] Chr3:58094819 [GRCh38]
Chr3:58080546 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3457C>T (p.Leu1153Phe) single nucleotide variant not provided [RCV002623437] Chr3:58123423 [GRCh38]
Chr3:58109150 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2417C>T (p.Thr806Met) single nucleotide variant not provided [RCV002800982] Chr3:58110103 [GRCh38]
Chr3:58095830 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.984+15C>T single nucleotide variant not provided [RCV002593861] Chr3:58096233 [GRCh38]
Chr3:58081960 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.546G>C (p.Leu182=) single nucleotide variant not provided [RCV002766108] Chr3:58078721 [GRCh38]
Chr3:58064448 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7206G>A (p.Gln2402=) single nucleotide variant not provided [RCV003006528] Chr3:58168447 [GRCh38]
Chr3:58154174 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3570C>T (p.Tyr1190=) single nucleotide variant FLNB-related disorder [RCV004545352]|not provided [RCV002625631] Chr3:58123536 [GRCh38]
Chr3:58109263 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4166C>T (p.Pro1389Leu) single nucleotide variant FLNB-related disorder [RCV004529164]|not provided [RCV002700340] Chr3:58126706 [GRCh38]
Chr3:58112433 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3747C>T (p.Thr1249=) single nucleotide variant not provided [RCV002572424] Chr3:58124354 [GRCh38]
Chr3:58110081 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5565C>T (p.Asp1855=) single nucleotide variant not provided [RCV003039905] Chr3:58146830 [GRCh38]
Chr3:58132557 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.832A>G (p.Thr278Ala) single nucleotide variant not provided [RCV002663708] Chr3:58094880 [GRCh38]
Chr3:58080607 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4863T>A (p.Gly1621=) single nucleotide variant not provided [RCV002928950] Chr3:58138283 [GRCh38]
Chr3:58124010 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4061+6C>A single nucleotide variant not provided [RCV002889924] Chr3:58125749 [GRCh38]
Chr3:58111476 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2296A>T (p.Thr766Ser) single nucleotide variant not provided [RCV003023796] Chr3:58109672 [GRCh38]
Chr3:58095399 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.317A>G (p.Asn106Ser) single nucleotide variant not provided [RCV003083051]|not specified [RCV003988054] Chr3:58077070 [GRCh38]
Chr3:58062797 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1147+9C>T single nucleotide variant not provided [RCV002710912] Chr3:58097986 [GRCh38]
Chr3:58083713 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6258C>T (p.Thr2086=) single nucleotide variant not provided [RCV003005383] Chr3:58150118 [GRCh38]
Chr3:58135845 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3064G>A (p.Gly1022Arg) single nucleotide variant not provided [RCV002800710] Chr3:58121441 [GRCh38]
Chr3:58107168 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3806A>C (p.His1269Pro) single nucleotide variant not provided [RCV002710901] Chr3:58124413 [GRCh38]
Chr3:58110140 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2903C>A (p.Thr968Asn) single nucleotide variant not provided [RCV003024181] Chr3:58121280 [GRCh38]
Chr3:58107007 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7418-14C>T single nucleotide variant not provided [RCV002625969] Chr3:58169576 [GRCh38]
Chr3:58155303 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4387C>T (p.Arg1463Ter) single nucleotide variant not provided [RCV002574254] Chr3:58130905 [GRCh38]
Chr3:58116632 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.5612A>G (p.Asn1871Ser) single nucleotide variant not provided [RCV002624497] Chr3:58146877 [GRCh38]
Chr3:58132604 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4396G>A (p.Val1466Met) single nucleotide variant not provided [RCV002573826] Chr3:58132813 [GRCh38]
Chr3:58118540 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3607A>G (p.Thr1203Ala) single nucleotide variant Inborn genetic diseases [RCV002713332] Chr3:58123573 [GRCh38]
Chr3:58109300 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6504C>T (p.Ser2168=) single nucleotide variant not provided [RCV002625520] Chr3:58153511 [GRCh38]
Chr3:58139238 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5343C>T (p.Asp1781=) single nucleotide variant FLNB-related disorder [RCV004534116]|not provided [RCV002574814] Chr3:58143531 [GRCh38]
Chr3:58129258 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.3511G>C (p.Val1171Leu) single nucleotide variant not provided [RCV002985532]|not specified [RCV004765614] Chr3:58123477 [GRCh38]
Chr3:58109204 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2615C>G (p.Thr872Ser) single nucleotide variant not provided [RCV002745363] Chr3:58112188 [GRCh38]
Chr3:58097915 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2949C>T (p.Ser983=) single nucleotide variant not provided [RCV003057264] Chr3:58121326 [GRCh38]
Chr3:58107053 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.911A>G (p.Gln304Arg) single nucleotide variant not provided [RCV002766035] Chr3:58096145 [GRCh38]
Chr3:58081872 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7297G>A (p.Glu2433Lys) single nucleotide variant Inborn genetic diseases [RCV002875401] Chr3:58168538 [GRCh38]
Chr3:58154265 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6135G>A (p.Val2045=) single nucleotide variant not provided [RCV002741708] Chr3:58149893 [GRCh38]
Chr3:58135620 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1398C>T (p.Gly466=) single nucleotide variant not provided [RCV002643469] Chr3:58102255 [GRCh38]
Chr3:58087982 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3068A>G (p.His1023Arg) single nucleotide variant not provided [RCV003042041] Chr3:58121445 [GRCh38]
Chr3:58107172 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6773-4A>G single nucleotide variant not provided [RCV002829286] Chr3:58155956 [GRCh38]
Chr3:58141683 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7488G>A (p.Ser2496=) single nucleotide variant not provided [RCV002664217] Chr3:58169660 [GRCh38]
Chr3:58155387 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7444G>C (p.Ala2482Pro) single nucleotide variant not provided [RCV002805490] Chr3:58169616 [GRCh38]
Chr3:58155343 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4982A>C (p.Glu1661Ala) single nucleotide variant Inborn genetic diseases [RCV002916845] Chr3:58138402 [GRCh38]
Chr3:58124129 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6397G>A (p.Val2133Ile) single nucleotide variant not provided [RCV002666943] Chr3:58153404 [GRCh38]
Chr3:58139131 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4511G>T (p.Arg1504Leu) single nucleotide variant Inborn genetic diseases [RCV002625523]|not provided [RCV002598046] Chr3:58132928 [GRCh38]
Chr3:58118655 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4361C>T (p.Pro1454Leu) single nucleotide variant Inborn genetic diseases [RCV002696578]|not provided [RCV003777613] Chr3:58130879 [GRCh38]
Chr3:58116606 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6026G>A (p.Gly2009Asp) single nucleotide variant not provided [RCV003056418] Chr3:58148787 [GRCh38]
Chr3:58134514 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3724+36dup duplication not provided [RCV002623965] Chr3:58123703..58123704 [GRCh38]
Chr3:58109430..58109431 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2295_2297dup (p.Thr766_Val767insThr) duplication not provided [RCV002853070] Chr3:58109670..58109671 [GRCh38]
Chr3:58095397..58095398 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2484+2T>C single nucleotide variant Inborn genetic diseases [RCV002712199]|not provided [RCV003777654] Chr3:58110172 [GRCh38]
Chr3:58095899 [GRCh37]
Chr3:3p14.3		 likely pathogenic|uncertain significance
NM_001457.4(FLNB):c.6877A>C (p.Met2293Leu) single nucleotide variant Inborn genetic diseases [RCV002957275]|not provided [RCV002957274] Chr3:58156064 [GRCh38]
Chr3:58141791 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7199-7C>T single nucleotide variant not provided [RCV002643547] Chr3:58168433 [GRCh38]
Chr3:58154160 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4862-3C>T single nucleotide variant Inborn genetic diseases [RCV002712227] Chr3:58138279 [GRCh38]
Chr3:58124006 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6635-3C>T single nucleotide variant not provided [RCV002790892] Chr3:58154788 [GRCh38]
Chr3:58140515 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5285-20C>T single nucleotide variant not provided [RCV002575235] Chr3:58143453 [GRCh38]
Chr3:58129180 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3228G>A (p.Thr1076=) single nucleotide variant FLNB-related disorder [RCV004736177]|not provided [RCV002575610] Chr3:58123194 [GRCh38]
Chr3:58108921 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4671+20T>C single nucleotide variant not provided [RCV002876145] Chr3:58134792 [GRCh38]
Chr3:58120519 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4411_4412inv (p.Val1471Thr) inversion not provided [RCV002791137] Chr3:58132828..58132829 [GRCh38]
Chr3:58118555..58118556 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1723A>G (p.Ile575Val) single nucleotide variant not provided [RCV002894280] Chr3:58105192 [GRCh38]
Chr3:58090919 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6321C>A (p.Ser2107=) single nucleotide variant not provided [RCV002667327] Chr3:58150181 [GRCh38]
Chr3:58135908 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.292+1G>T single nucleotide variant not provided [RCV002626386] Chr3:58008857 [GRCh38]
Chr3:57994584 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4954G>T (p.Val1652Phe) single nucleotide variant not provided [RCV002875989] Chr3:58138374 [GRCh38]
Chr3:58124101 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2485-18A>G single nucleotide variant not provided [RCV002875992] Chr3:58111773 [GRCh38]
Chr3:58097500 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7233A>T (p.Arg2411=) single nucleotide variant not provided [RCV003025584] Chr3:58168474 [GRCh38]
Chr3:58154201 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5425+1G>A single nucleotide variant not provided [RCV002790763] Chr3:58143614 [GRCh38]
Chr3:58129341 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.6976C>T (p.Pro2326Ser) single nucleotide variant not provided [RCV002790764] Chr3:58159641 [GRCh38]
Chr3:58145368 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3421C>T (p.Pro1141Ser) single nucleotide variant Inborn genetic diseases [RCV002827955]|not provided [RCV003679148] Chr3:58123387 [GRCh38]
Chr3:58109114 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2661T>C (p.Pro887=) single nucleotide variant not provided [RCV002852979] Chr3:58112234 [GRCh38]
Chr3:58097961 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4671+11G>C single nucleotide variant not provided [RCV002701323] Chr3:58134783 [GRCh38]
Chr3:58120510 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5233A>C (p.Lys1745Gln) single nucleotide variant not provided [RCV002573162] Chr3:58142701 [GRCh38]
Chr3:58128428 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3304A>T (p.Thr1102Ser) single nucleotide variant not provided [RCV002701358] Chr3:58123270 [GRCh38]
Chr3:58108997 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3589C>T (p.Leu1197=) single nucleotide variant not provided [RCV002889925] Chr3:58123555 [GRCh38]
Chr3:58109282 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7165G>A (p.Ala2389Thr) single nucleotide variant not provided [RCV002700497] Chr3:58163297 [GRCh38]
Chr3:58149024 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6361A>C (p.Ile2121Leu) single nucleotide variant not provided [RCV002700368] Chr3:58150221 [GRCh38]
Chr3:58135948 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.573G>A (p.Pro191=) single nucleotide variant not provided [RCV002957487] Chr3:58078748 [GRCh38]
Chr3:58064475 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4303G>C (p.Val1435Leu) single nucleotide variant FLNB-related disorder [RCV004536421]|not provided [RCV002852219] Chr3:58130821 [GRCh38]
Chr3:58116548 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.265C>G (p.Arg89Gly) single nucleotide variant not provided [RCV002596641] Chr3:58008829 [GRCh38]
Chr3:57994556 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5930G>A (p.Ser1977Asn) single nucleotide variant Inborn genetic diseases [RCV003048930]|not provided [RCV003043101] Chr3:58148691 [GRCh38]
Chr3:58134418 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6815C>T (p.Pro2272Leu) single nucleotide variant Inborn genetic diseases [RCV004068202]|not provided [RCV002962076] Chr3:58156002 [GRCh38]
Chr3:58141729 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.7002C>T (p.His2334=) single nucleotide variant not provided [RCV002631819] Chr3:58159667 [GRCh38]
Chr3:58145394 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2451G>A (p.Gly817=) single nucleotide variant not provided [RCV003031853] Chr3:58110137 [GRCh38]
Chr3:58095864 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1987A>C (p.Asn663His) single nucleotide variant not provided [RCV002716206] Chr3:58108503 [GRCh38]
Chr3:58094230 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7664C>G (p.Pro2555Arg) single nucleotide variant not provided [RCV002963087] Chr3:58170617 [GRCh38]
Chr3:58156344 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2851G>A (p.Gly951Arg) single nucleotide variant Inborn genetic diseases [RCV003008857]|not provided [RCV003778542] Chr3:58118977 [GRCh38]
Chr3:58104704 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5110G>T (p.Ala1704Ser) single nucleotide variant Inborn genetic diseases [RCV002940915]|not provided [RCV003151921] Chr3:58141858 [GRCh38]
Chr3:58127585 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2641A>C (p.Asn881His) single nucleotide variant not provided [RCV002582112] Chr3:58112214 [GRCh38]
Chr3:58097941 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2208C>T (p.Ile736=) single nucleotide variant not provided [RCV002633071] Chr3:58109584 [GRCh38]
Chr3:58095311 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1728C>T (p.Gly576=) single nucleotide variant not provided [RCV002966271] Chr3:58105197 [GRCh38]
Chr3:58090924 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3898+18C>T single nucleotide variant not provided [RCV002631378] Chr3:58124523 [GRCh38]
Chr3:58110250 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4485T>A (p.Val1495=) single nucleotide variant not provided [RCV002633126] Chr3:58132902 [GRCh38]
Chr3:58118629 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5830G>A (p.Ala1944Thr) single nucleotide variant Inborn genetic diseases [RCV003377835]|not provided [RCV003031415] Chr3:58148307 [GRCh38]
Chr3:58134034 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6889-7T>G single nucleotide variant not provided [RCV003031246] Chr3:58159547 [GRCh38]
Chr3:58145274 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7768G>A (p.Glu2590Lys) single nucleotide variant not provided [RCV003026714] Chr3:58170721 [GRCh38]
Chr3:58156448 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.419C>T (p.Thr140Met) single nucleotide variant not provided [RCV002601950] Chr3:58077172 [GRCh38]
Chr3:58062899 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3748G>A (p.Asp1250Asn) single nucleotide variant not provided [RCV002602361] Chr3:58124355 [GRCh38]
Chr3:58110082 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1533C>T (p.Tyr511=) single nucleotide variant FLNB-related disorder [RCV004736273]|not provided [RCV002598887] Chr3:58104008 [GRCh38]
Chr3:58089735 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7345A>G (p.Asn2449Asp) single nucleotide variant not provided [RCV003049024] Chr3:58168586 [GRCh38]
Chr3:58154313 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4439C>G (p.Thr1480Arg) single nucleotide variant not provided [RCV002649488] Chr3:58132856 [GRCh38]
Chr3:58118583 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2599C>T (p.His867Tyr) single nucleotide variant not provided [RCV002676292] Chr3:58112172 [GRCh38]
Chr3:58097899 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7809A>T (p.Ter2603Tyr) single nucleotide variant not provided [RCV003031400] Chr3:58170762 [GRCh38]
Chr3:58156489 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4171G>A (p.Ala1391Thr) single nucleotide variant Inborn genetic diseases [RCV003250537]|not provided [RCV002602107] Chr3:58126711 [GRCh38]
Chr3:58112438 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7000C>T (p.His2334Tyr) single nucleotide variant not provided [RCV002581675] Chr3:58159665 [GRCh38]
Chr3:58145392 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2896G>A (p.Val966Ile) single nucleotide variant not provided [RCV002806087] Chr3:58121273 [GRCh38]
Chr3:58107000 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3786G>A (p.Gly1262=) single nucleotide variant not provided [RCV003027103] Chr3:58124393 [GRCh38]
Chr3:58110120 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4374G>T (p.Arg1458Ser) single nucleotide variant not provided [RCV003046975] Chr3:58130892 [GRCh38]
Chr3:58116619 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2324-11G>T single nucleotide variant not provided [RCV003026461] Chr3:58109999 [GRCh38]
Chr3:58095726 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5157A>C (p.Ala1719=) single nucleotide variant not provided [RCV002577459] Chr3:58141905 [GRCh38]
Chr3:58127632 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6092-9G>A single nucleotide variant not provided [RCV002577149] Chr3:58149841 [GRCh38]
Chr3:58135568 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2011G>T (p.Asp671Tyr) single nucleotide variant not provided [RCV003027538] Chr3:58108527 [GRCh38]
Chr3:58094254 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6552C>T (p.Thr2184=) single nucleotide variant not provided [RCV003087162] Chr3:58153559 [GRCh38]
Chr3:58139286 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7303C>T (p.Pro2435Ser) single nucleotide variant not provided [RCV002598455] Chr3:58168544 [GRCh38]
Chr3:58154271 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6711G>T (p.Glu2237Asp) single nucleotide variant not provided [RCV003029412] Chr3:58154867 [GRCh38]
Chr3:58140594 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.819G>T (p.Gln273His) single nucleotide variant not provided [RCV003045510] Chr3:58094867 [GRCh38]
Chr3:58080594 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3020T>A (p.Ile1007Asn) single nucleotide variant not provided [RCV002717324] Chr3:58121397 [GRCh38]
Chr3:58107124 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7418-4T>G single nucleotide variant not provided [RCV002671123] Chr3:58169586 [GRCh38]
Chr3:58155313 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2340_2351dup (p.Asp784_Ala785insIleLysCysAsp) duplication not provided [RCV002988781] Chr3:58110025..58110026 [GRCh38]
Chr3:58095752..58095753 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4411G>T (p.Val1471Leu) single nucleotide variant not provided [RCV002630307] Chr3:58132828 [GRCh38]
Chr3:58118555 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5520C>T (p.Ala1840=) single nucleotide variant not provided [RCV002579825] Chr3:58146015 [GRCh38]
Chr3:58131742 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7442C>T (p.Ser2481Leu) single nucleotide variant not provided [RCV002672144] Chr3:58169614 [GRCh38]
Chr3:58155341 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6772+3A>G single nucleotide variant not provided [RCV002578704] Chr3:58154931 [GRCh38]
Chr3:58140658 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4464G>A (p.Glu1488=) single nucleotide variant not provided [RCV002877389] Chr3:58132881 [GRCh38]
Chr3:58118608 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2957G>A (p.Arg986Gln) single nucleotide variant not provided [RCV002805985] Chr3:58121334 [GRCh38]
Chr3:58107061 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4477G>A (p.Val1493Ile) single nucleotide variant not provided [RCV003028421] Chr3:58132894 [GRCh38]
Chr3:58118621 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2575+15C>G single nucleotide variant not provided [RCV003062032] Chr3:58111896 [GRCh38]
Chr3:58097623 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2129C>T (p.Pro710Leu) single nucleotide variant not provided [RCV002646386] Chr3:58109252 [GRCh38]
Chr3:58094979 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7264G>A (p.Glu2422Lys) single nucleotide variant not provided [RCV003028997] Chr3:58168505 [GRCh38]
Chr3:58154232 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1870G>A (p.Asp624Asn) single nucleotide variant not provided [RCV002577760] Chr3:58106802 [GRCh38]
Chr3:58092529 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2746-6T>C single nucleotide variant not provided [RCV003028584] Chr3:58118866 [GRCh38]
Chr3:58104593 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5932A>G (p.Ile1978Val) single nucleotide variant not provided [RCV002578050] Chr3:58148693 [GRCh38]
Chr3:58134420 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6936G>A (p.Leu2312=) single nucleotide variant not provided [RCV003030365] Chr3:58159601 [GRCh38]
Chr3:58145328 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4222+2T>G single nucleotide variant not provided [RCV002811029] Chr3:58126764 [GRCh38]
Chr3:58112491 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.6667G>A (p.Ala2223Thr) single nucleotide variant not provided [RCV002716251] Chr3:58154823 [GRCh38]
Chr3:58140550 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6092-4G>A single nucleotide variant not provided [RCV002580343] Chr3:58149846 [GRCh38]
Chr3:58135573 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.699C>T (p.Tyr233=) single nucleotide variant not provided [RCV003046666] Chr3:58081688 [GRCh38]
Chr3:58067415 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6410C>T (p.Ser2137Phe) single nucleotide variant not provided [RCV002921938] Chr3:58153417 [GRCh38]
Chr3:58139144 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6092-19del deletion not provided [RCV002899398] Chr3:58149831 [GRCh38]
Chr3:58135558 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4725G>A (p.Thr1575=) single nucleotide variant not provided [RCV002966219] Chr3:58136032 [GRCh38]
Chr3:58121759 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2970A>G (p.Pro990=) single nucleotide variant not provided [RCV002578212] Chr3:58121347 [GRCh38]
Chr3:58107074 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4791C>T (p.Asp1597=) single nucleotide variant not provided [RCV002581003] Chr3:58136098 [GRCh38]
Chr3:58121825 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6244+19C>T single nucleotide variant not provided [RCV002857522] Chr3:58150021 [GRCh38]
Chr3:58135748 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6971A>C (p.His2324Pro) single nucleotide variant not provided [RCV003030827] Chr3:58159636 [GRCh38]
Chr3:58145363 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3620A>G (p.Lys1207Arg) single nucleotide variant not provided [RCV002600401] Chr3:58123586 [GRCh38]
Chr3:58109313 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4061+13del deletion not provided [RCV002645950] Chr3:58125754 [GRCh38]
Chr3:58111481 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.985-6C>T single nucleotide variant not provided [RCV002632375] Chr3:58097809 [GRCh38]
Chr3:58083536 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5978T>C (p.Met1993Thr) single nucleotide variant not provided [RCV002716181] Chr3:58148739 [GRCh38]
Chr3:58134466 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1346-19G>A single nucleotide variant not provided [RCV002650792] Chr3:58102184 [GRCh38]
Chr3:58087911 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.292+16G>C single nucleotide variant not provided [RCV002598123] Chr3:58008872 [GRCh38]
Chr3:57994599 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3352A>G (p.Ile1118Val) single nucleotide variant not provided [RCV002810518] Chr3:58123318 [GRCh38]
Chr3:58109045 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7141G>A (p.Ala2381Thr) single nucleotide variant Inborn genetic diseases [RCV002935106] Chr3:58163273 [GRCh38]
Chr3:58149000 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.850G>T (p.Ala284Ser) single nucleotide variant not provided [RCV002807078] Chr3:58094898 [GRCh38]
Chr3:58080625 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.687A>G (p.Ser229=) single nucleotide variant not provided [RCV002602550] Chr3:58081676 [GRCh38]
Chr3:58067403 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3766C>A (p.Arg1256=) single nucleotide variant not provided [RCV003009410] Chr3:58124373 [GRCh38]
Chr3:58110100 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2088G>A (p.Met696Ile) single nucleotide variant Inborn genetic diseases [RCV002936255] Chr3:58109211 [GRCh38]
Chr3:58094938 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5272G>A (p.Gly1758Arg) single nucleotide variant not provided [RCV003031636] Chr3:58142740 [GRCh38]
Chr3:58128467 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7621+15C>G single nucleotide variant not provided [RCV002810648] Chr3:58169808 [GRCh38]
Chr3:58155535 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.927_928inv (p.Asp310Asn) inversion not provided [RCV002576948] Chr3:58096161..58096162 [GRCh38]
Chr3:58081888..58081889 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6853G>A (p.Asp2285Asn) single nucleotide variant not provided [RCV002962449] Chr3:58156040 [GRCh38]
Chr3:58141767 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1204G>A (p.Val402Met) single nucleotide variant not provided [RCV002630504] Chr3:58098767 [GRCh38]
Chr3:58084494 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7322T>C (p.Met2441Thr) single nucleotide variant Inborn genetic diseases [RCV002718847] Chr3:58168563 [GRCh38]
Chr3:58154290 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3898+8G>A single nucleotide variant not provided [RCV002627927] Chr3:58124513 [GRCh38]
Chr3:58110240 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6449A>G (p.Lys2150Arg) single nucleotide variant not provided [RCV002720466] Chr3:58153456 [GRCh38]
Chr3:58139183 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6734A>G (p.Asn2245Ser) single nucleotide variant not provided [RCV002645943] Chr3:58154890 [GRCh38]
Chr3:58140617 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.293-15T>G single nucleotide variant not provided [RCV003027817] Chr3:58077031 [GRCh38]
Chr3:58062758 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3733C>T (p.Arg1245Trp) single nucleotide variant Inborn genetic diseases [RCV003162041]|not provided [RCV002633746] Chr3:58124340 [GRCh38]
Chr3:58110067 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6728A>C (p.His2243Pro) single nucleotide variant not provided [RCV002635592] Chr3:58154884 [GRCh38]
Chr3:58140611 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3788G>T (p.Gly1263Val) single nucleotide variant not provided [RCV002634608] Chr3:58124395 [GRCh38]
Chr3:58110122 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.910C>T (p.Gln304Ter) single nucleotide variant not provided [RCV003052321] Chr3:58096144 [GRCh38]
Chr3:58081871 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.7092C>T (p.Ser2364=) single nucleotide variant not provided [RCV003049717] Chr3:58163224 [GRCh38]
Chr3:58148951 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3974G>T (p.Gly1325Val) single nucleotide variant not provided [RCV003092930] Chr3:58125656 [GRCh38]
Chr3:58111383 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6893C>T (p.Ser2298Leu) single nucleotide variant Inborn genetic diseases [RCV002653516]|not provided [RCV002653517] Chr3:58159558 [GRCh38]
Chr3:58145285 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.1478G>T (p.Gly493Val) single nucleotide variant not provided [RCV002634915] Chr3:58102335 [GRCh38]
Chr3:58088062 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.806A>C (p.Asn269Thr) single nucleotide variant Inborn genetic diseases [RCV002722847] Chr3:58094854 [GRCh38]
Chr3:58080581 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2715T>C (p.Ser905=) single nucleotide variant not provided [RCV002943937] Chr3:58112288 [GRCh38]
Chr3:58098015 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7449C>T (p.Asn2483=) single nucleotide variant not provided [RCV002603655] Chr3:58169621 [GRCh38]
Chr3:58155348 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6367+3G>A single nucleotide variant not provided [RCV003144017] Chr3:58150230 [GRCh38]
Chr3:58135957 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2953T>A (p.Ser985Thr) single nucleotide variant not provided [RCV002814860] Chr3:58121330 [GRCh38]
Chr3:58107057 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5317A>G (p.Thr1773Ala) single nucleotide variant not provided [RCV002604831] Chr3:58143505 [GRCh38]
Chr3:58129232 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4833G>A (p.Thr1611=) single nucleotide variant not provided [RCV002609266] Chr3:58136140 [GRCh38]
Chr3:58121867 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6746G>A (p.Gly2249Asp) single nucleotide variant Inborn genetic diseases [RCV002604000]|not provided [RCV002604001] Chr3:58154902 [GRCh38]
Chr3:58140629 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.541+3A>C single nucleotide variant not provided [RCV002606733] Chr3:58077297 [GRCh38]
Chr3:58063024 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3477G>A (p.Ser1159=) single nucleotide variant not provided [RCV002586096] Chr3:58123443 [GRCh38]
Chr3:58109170 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.562T>A (p.Ser188Thr) single nucleotide variant not provided [RCV002606828] Chr3:58078737 [GRCh38]
Chr3:58064464 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5526C>T (p.Phe1842=) single nucleotide variant not provided [RCV002587985] Chr3:58146021 [GRCh38]
Chr3:58131748 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6092-13T>C single nucleotide variant not provided [RCV002586205] Chr3:58149837 [GRCh38]
Chr3:58135564 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5392A>G (p.Met1798Val) single nucleotide variant not provided [RCV002606003] Chr3:58143580 [GRCh38]
Chr3:58129307 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1748-5C>A single nucleotide variant not provided [RCV003070902] Chr3:58106675 [GRCh38]
Chr3:58092402 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1539C>T (p.Phe513=) single nucleotide variant not provided [RCV002610480] Chr3:58104014 [GRCh38]
Chr3:58089741 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5643G>C (p.Leu1881=) single nucleotide variant not provided [RCV002634478] Chr3:58146908 [GRCh38]
Chr3:58132635 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3351C>T (p.His1117=) single nucleotide variant FLNB-related disorder [RCV004736178]|not provided [RCV002586405] Chr3:58123317 [GRCh38]
Chr3:58109044 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7737C>T (p.Gly2579=) single nucleotide variant not provided [RCV002610837] Chr3:58170690 [GRCh38]
Chr3:58156417 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5174G>A (p.Arg1725Lys) single nucleotide variant not provided [RCV002584737] Chr3:58141922 [GRCh38]
Chr3:58127649 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6367+9C>T single nucleotide variant not provided [RCV002612779] Chr3:58150236 [GRCh38]
Chr3:58135963 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5888-8T>C single nucleotide variant not provided [RCV002942430] Chr3:58148641 [GRCh38]
Chr3:58134368 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1696C>T (p.Arg566Trp) single nucleotide variant not provided [RCV002590268] Chr3:58105165 [GRCh38]
Chr3:58090892 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2361G>A (p.Val787=) single nucleotide variant not provided [RCV002654096] Chr3:58110047 [GRCh38]
Chr3:58095774 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3779A>C (p.Gln1260Pro) single nucleotide variant Inborn genetic diseases [RCV004068830]|not provided [RCV002588436] Chr3:58124386 [GRCh38]
Chr3:58110113 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_001457.4(FLNB):c.3569A>G (p.Tyr1190Cys) single nucleotide variant Inborn genetic diseases [RCV002677077] Chr3:58123535 [GRCh38]
Chr3:58109262 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1992C>T (p.Asn664=) single nucleotide variant not provided [RCV002582624] Chr3:58108508 [GRCh38]
Chr3:58094235 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7142C>T (p.Ala2381Val) single nucleotide variant Inborn genetic diseases [RCV002605719]|not provided [RCV002605718] Chr3:58163274 [GRCh38]
Chr3:58149001 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2383G>A (p.Val795Met) single nucleotide variant not provided [RCV002586672] Chr3:58110069 [GRCh38]
Chr3:58095796 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6063T>C (p.Ser2021=) single nucleotide variant not provided [RCV002586773] Chr3:58148824 [GRCh38]
Chr3:58134551 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7208C>T (p.Ser2403Leu) single nucleotide variant not provided [RCV002607574] Chr3:58168449 [GRCh38]
Chr3:58154176 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7448A>G (p.Asn2483Ser) single nucleotide variant not provided [RCV002609338] Chr3:58169620 [GRCh38]
Chr3:58155347 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.3724+25_3724+36del deletion not provided [RCV002634898] Chr3:58123704..58123715 [GRCh38]
Chr3:58109431..58109442 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3766C>T (p.Arg1256Trp) single nucleotide variant not provided [RCV002943862] Chr3:58124373 [GRCh38]
Chr3:58110100 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3025C>T (p.Arg1009Trp) single nucleotide variant not provided [RCV003071860] Chr3:58121402 [GRCh38]
Chr3:58107129 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2321A>C (p.Glu774Ala) single nucleotide variant not provided [RCV002680817] Chr3:58109697 [GRCh38]
Chr3:58095424 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3723A>G (p.Lys1241=) single nucleotide variant not provided [RCV002654522] Chr3:58123689 [GRCh38]
Chr3:58109416 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2772C>T (p.Tyr924=) single nucleotide variant not provided [RCV002589239] Chr3:58118898 [GRCh38]
Chr3:58104625 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7418-20C>T single nucleotide variant not provided [RCV002589245] Chr3:58169570 [GRCh38]
Chr3:58155297 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6532G>A (p.Gly2178Ser) single nucleotide variant Inborn genetic diseases [RCV002584136]|not provided [RCV002584135] Chr3:58153539 [GRCh38]
Chr3:58139266 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6786G>A (p.Val2262=) single nucleotide variant not provided [RCV002589369] Chr3:58155973 [GRCh38]
Chr3:58141700 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6822C>T (p.Ser2274=) single nucleotide variant not provided [RCV002611911] Chr3:58156009 [GRCh38]
Chr3:58141736 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4514+9C>T single nucleotide variant not provided [RCV002611916] Chr3:58132940 [GRCh38]
Chr3:58118667 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6192C>T (p.Thr2064=) single nucleotide variant not provided [RCV002606640] Chr3:58149950 [GRCh38]
Chr3:58135677 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2516T>C (p.Val839Ala) single nucleotide variant not provided [RCV002587812] Chr3:58111822 [GRCh38]
Chr3:58097549 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5349G>A (p.Thr1783=) single nucleotide variant not provided [RCV002612352] Chr3:58143537 [GRCh38]
Chr3:58129264 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7760G>C (p.Trp2587Ser) single nucleotide variant Inborn genetic diseases [RCV002679261]|not provided [RCV003778554] Chr3:58170713 [GRCh38]
Chr3:58156440 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4893C>T (p.Gly1631=) single nucleotide variant not provided [RCV003073056] Chr3:58138313 [GRCh38]
Chr3:58124040 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2359G>A (p.Val787Met) single nucleotide variant not provided [RCV002586404] Chr3:58110045 [GRCh38]
Chr3:58095772 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4229C>T (p.Pro1410Leu) single nucleotide variant not provided [RCV003154531] Chr3:58130747 [GRCh38]
Chr3:58116474 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.478A>G (p.Asn160Asp) single nucleotide variant not provided [RCV003229283] Chr3:58077231 [GRCh38]
Chr3:58062958 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.647C>T (p.Thr216Ile) single nucleotide variant not provided [RCV003224013] Chr3:58081636 [GRCh38]
Chr3:58067363 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3511G>A (p.Val1171Ile) single nucleotide variant Inborn genetic diseases [RCV003211655] Chr3:58123477 [GRCh38]
Chr3:58109204 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3626G>A (p.Gly1209Asp) single nucleotide variant Inborn genetic diseases [RCV003212694] Chr3:58123592 [GRCh38]
Chr3:58109319 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7321A>C (p.Met2441Leu) single nucleotide variant Inborn genetic diseases [RCV003219995] Chr3:58168562 [GRCh38]
Chr3:58154289 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6053T>C (p.Phe2018Ser) single nucleotide variant Inborn genetic diseases [RCV003200021]|not provided [RCV003779703] Chr3:58148814 [GRCh38]
Chr3:58134541 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3420del (p.Pro1141fs) deletion not provided [RCV003141691] Chr3:58123383 [GRCh38]
Chr3:58109110 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.545T>G (p.Leu182Arg) single nucleotide variant Larsen syndrome [RCV003142392] Chr3:58078720 [GRCh38]
Chr3:58064447 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2621G>A (p.Gly874Glu) single nucleotide variant Inborn genetic diseases [RCV003220453] Chr3:58112194 [GRCh38]
Chr3:58097921 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4076G>T (p.Gly1359Val) single nucleotide variant not provided [RCV003225471] Chr3:58126616 [GRCh38]
Chr3:58112343 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6697C>T (p.Pro2233Ser) single nucleotide variant Inborn genetic diseases [RCV003186319]|not provided [RCV003661022] Chr3:58154853 [GRCh38]
Chr3:58140580 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6752C>G (p.Ser2251Cys) single nucleotide variant Inborn genetic diseases [RCV003200564]|not provided [RCV003720800] Chr3:58154908 [GRCh38]
Chr3:58140635 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1708T>A (p.Phe570Ile) single nucleotide variant Inborn genetic diseases [RCV003194372] Chr3:58105177 [GRCh38]
Chr3:58090904 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2772del (p.Thr923_Tyr924insTer) deletion Spondylocarpotarsal synostosis syndrome [RCV003228737] Chr3:58118898 [GRCh38]
Chr3:58104625 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.865G>T (p.Val289Leu) single nucleotide variant Inborn genetic diseases [RCV003286378] Chr3:58094913 [GRCh38]
Chr3:58080640 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.324G>A (p.Lys108=) single nucleotide variant not provided [RCV003712707] Chr3:58077077 [GRCh38]
Chr3:58062804 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3535G>T (p.Glu1179Ter) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV003338908] Chr3:58123501 [GRCh38]
Chr3:58109228 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.3173C>T (p.Pro1058Leu) single nucleotide variant Larsen syndrome [RCV003337893] Chr3:58123139 [GRCh38]
Chr3:58108866 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7770A>G (p.Glu2590=) single nucleotide variant not specified [RCV003331974] Chr3:58170723 [GRCh38]
Chr3:58156450 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6631C>T (p.Pro2211Ser) single nucleotide variant Inborn genetic diseases [RCV003384802] Chr3:58153638 [GRCh38]
Chr3:58139365 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4280C>T (p.Ala1427Val) single nucleotide variant Inborn genetic diseases [RCV003373330] Chr3:58130798 [GRCh38]
Chr3:58116525 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3601A>T (p.Met1201Leu) single nucleotide variant Inborn genetic diseases [RCV003370308] Chr3:58123567 [GRCh38]
Chr3:58109294 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1358A>G (p.Asn453Ser) single nucleotide variant Inborn genetic diseases [RCV003370678]|not provided [RCV003491370] Chr3:58102215 [GRCh38]
Chr3:58087942 [GRCh37]
Chr3:3p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001457.4(FLNB):c.7726A>G (p.Lys2576Glu) single nucleotide variant Inborn genetic diseases [RCV003374235] Chr3:58170679 [GRCh38]
Chr3:58156406 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4221C>G (p.Pro1407=) single nucleotide variant not provided [RCV003569415] Chr3:58126761 [GRCh38]
Chr3:58112488 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7199-20T>A single nucleotide variant not provided [RCV003571079] Chr3:58168420 [GRCh38]
Chr3:58154147 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.579G>C (p.Lys193Asn) single nucleotide variant not provided [RCV003543817] Chr3:58078754 [GRCh38]
Chr3:58064481 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5101A>G (p.Thr1701Ala) single nucleotide variant not provided [RCV003487826] Chr3:58138521 [GRCh38]
Chr3:58124248 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6780C>G (p.Tyr2260Ter) single nucleotide variant not provided [RCV003875329] Chr3:58155967 [GRCh38]
Chr3:58141694 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.3856G>T (p.Ala1286Ser) single nucleotide variant not provided [RCV003571855] Chr3:58124463 [GRCh38]
Chr3:58110190 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6745G>A (p.Gly2249Ser) single nucleotide variant Inborn genetic diseases [RCV004369417]|not provided [RCV003571680] Chr3:58154901 [GRCh38]
Chr3:58140628 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.1458G>A (p.Glu486=) single nucleotide variant not provided [RCV003569838] Chr3:58102315 [GRCh38]
Chr3:58088042 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2055+16C>A single nucleotide variant not provided [RCV003569978] Chr3:58108587 [GRCh38]
Chr3:58094314 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4987_4992dup (p.Val1664_Ile1665insAspVal) duplication not provided [RCV003570873] Chr3:58138405..58138406 [GRCh38]
Chr3:58124132..58124133 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4012T>C (p.Leu1338=) single nucleotide variant not provided [RCV003712533] Chr3:58125694 [GRCh38]
Chr3:58111421 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6065A>G (p.Asp2022Gly) single nucleotide variant not provided [RCV003570126] Chr3:58148826 [GRCh38]
Chr3:58134553 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6480G>A (p.Gln2160=) single nucleotide variant not provided [RCV003570894] Chr3:58153487 [GRCh38]
Chr3:58139214 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5454C>T (p.Tyr1818=) single nucleotide variant not provided [RCV003543667] Chr3:58145949 [GRCh38]
Chr3:58131676 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.678C>T (p.Asp226=) single nucleotide variant not provided [RCV003873858] Chr3:58081667 [GRCh38]
Chr3:58067394 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6745G>C (p.Gly2249Arg) single nucleotide variant not provided [RCV003875443] Chr3:58154901 [GRCh38]
Chr3:58140628 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5868G>A (p.Arg1956=) single nucleotide variant not provided [RCV003543307] Chr3:58148345 [GRCh38]
Chr3:58134072 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2732C>T (p.Thr911Ile) single nucleotide variant not provided [RCV003874328] Chr3:58112305 [GRCh38]
Chr3:58098032 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.329T>G (p.Ile110Ser) single nucleotide variant not provided [RCV003872575] Chr3:58077082 [GRCh38]
Chr3:58062809 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5653C>T (p.Pro1885Ser) single nucleotide variant not provided [RCV003872813] Chr3:58146918 [GRCh38]
Chr3:58132645 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4862-19C>T single nucleotide variant not provided [RCV003542927] Chr3:58138263 [GRCh38]
Chr3:58123990 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1686G>T (p.Gly562=) single nucleotide variant FLNB-related disorder [RCV004539177]|not provided [RCV003875761] Chr3:58105155 [GRCh38]
Chr3:58090882 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3586C>A (p.Pro1196Thr) single nucleotide variant not provided [RCV003691341] Chr3:58123552 [GRCh38]
Chr3:58109279 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1351_1370del (p.Asn451fs) deletion not provided [RCV003543724] Chr3:58102206..58102225 [GRCh38]
Chr3:58087933..58087952 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.3763T>C (p.Ser1255Pro) single nucleotide variant Inborn genetic diseases [RCV004371805]|not provided [RCV003690716] Chr3:58124370 [GRCh38]
Chr3:58110097 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2055+17C>T single nucleotide variant not provided [RCV003691701] Chr3:58108588 [GRCh38]
Chr3:58094315 [GRCh37]
Chr3:3p14.3		 likely benign
NC_000003.12:g.58179951G>A single nucleotide variant not provided [RCV003433641] Chr3:58179951 [GRCh38]
Chr3:58165678 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1143G>A (p.Thr381=) single nucleotide variant FLNB-related disorder [RCV004536806]|not provided [RCV003433638] Chr3:58097973 [GRCh38]
Chr3:58083700 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5788_5802del (p.Ile1930_Asp1934del) deletion not provided [RCV003433639] Chr3:58148262..58148276 [GRCh38]
Chr3:58133989..58134003 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5274A>G (p.Gly1758=) single nucleotide variant FLNB-related disorder [RCV004540673]|not provided [RCV003437884] Chr3:58142742 [GRCh38]
Chr3:58128469 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.6902A>G (p.Lys2301Arg) single nucleotide variant not provided [RCV003443412] Chr3:58159567 [GRCh38]
Chr3:58145294 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1259C>A (p.Pro420His) single nucleotide variant FLNB-related disorder [RCV004529326] Chr3:58098822 [GRCh38]
Chr3:58084549 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5465G>A (p.Gly1822Glu) single nucleotide variant Larsen syndrome [RCV003479547] Chr3:58145960 [GRCh38]
Chr3:58131687 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3220G>A (p.Gly1074Ser) single nucleotide variant FLNB-related disorder [RCV004527847] Chr3:58123186 [GRCh38]
Chr3:58108913 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6302G>T (p.Arg2101Leu) single nucleotide variant FLNB-related disorder [RCV004531637]|not provided [RCV003720896] Chr3:58150162 [GRCh38]
Chr3:58135889 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2755C>A (p.Gln919Lys) single nucleotide variant FLNB-related disorder [RCV004531562] Chr3:58118881 [GRCh38]
Chr3:58104608 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5554+1G>A single nucleotide variant FLNB-related disorder [RCV004531588] Chr3:58146050 [GRCh38]
Chr3:58131777 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4834G>C (p.Gly1612Arg) single nucleotide variant not provided [RCV003441675] Chr3:58136141 [GRCh38]
Chr3:58121868 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4391-877C>T single nucleotide variant FLNB-related disorder [RCV004540672]|not provided [RCV003437883] Chr3:58131931 [GRCh38]
Chr3:58117658 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5339dup (p.Asp1781fs) duplication FLNB-related disorder [RCV004527962] Chr3:58143525..58143526 [GRCh38]
Chr3:58129252..58129253 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.5885T>C (p.Ile1962Thr) single nucleotide variant FLNB-related disorder [RCV004538971] Chr3:58148362 [GRCh38]
Chr3:58134089 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7661C>A (p.Thr2554Asn) single nucleotide variant not provided [RCV003433640] Chr3:58170614 [GRCh38]
Chr3:58156341 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.542-203G>A single nucleotide variant not provided [RCV003433637] Chr3:58078514 [GRCh38]
Chr3:58064241 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.637C>T (p.Gln213Ter) single nucleotide variant FLNB-related disorder [RCV004529730] Chr3:58078812 [GRCh38]
Chr3:58064539 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4312C>T (p.Arg1438Cys) single nucleotide variant FLNB-related disorder [RCV004534362]|not provided [RCV003778322] Chr3:58130830 [GRCh38]
Chr3:58116557 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2597C>T (p.Thr866Ile) single nucleotide variant FLNB-related disorder [RCV004527990] Chr3:58112170 [GRCh38]
Chr3:58097897 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6721G>T (p.Asp2241Tyr) single nucleotide variant not provided [RCV003739607] Chr3:58154877 [GRCh38]
Chr3:58140604 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3636C>T (p.Leu1212=) single nucleotide variant not provided [RCV003739616] Chr3:58123602 [GRCh38]
Chr3:58109329 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6988G>A (p.Val2330Met) single nucleotide variant not provided [RCV003882565] Chr3:58159653 [GRCh38]
Chr3:58145380 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1135A>T (p.Ile379Phe) single nucleotide variant not provided [RCV003545607] Chr3:58097965 [GRCh38]
Chr3:58083692 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6526G>A (p.Val2176Ile) single nucleotide variant not provided [RCV003738648] Chr3:58153533 [GRCh38]
Chr3:58139260 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5142G>C (p.Glu1714Asp) single nucleotide variant not provided [RCV003848880] Chr3:58141890 [GRCh38]
Chr3:58127617 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2358G>A (p.Arg786=) single nucleotide variant not provided [RCV003831909] Chr3:58110044 [GRCh38]
Chr3:58095771 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.184A>G (p.Met62Val) single nucleotide variant not provided [RCV003688236] Chr3:58008748 [GRCh38]
Chr3:57994475 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5988G>A (p.Gln1996=) single nucleotide variant not provided [RCV003577193] Chr3:58148749 [GRCh38]
Chr3:58134476 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6507C>G (p.Val2169=) single nucleotide variant not provided [RCV003686954] Chr3:58153514 [GRCh38]
Chr3:58139241 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6635-9T>C single nucleotide variant not provided [RCV003695558] Chr3:58154782 [GRCh38]
Chr3:58140509 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.984+7T>G single nucleotide variant not provided [RCV003696715] Chr3:58096225 [GRCh38]
Chr3:58081952 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7611C>T (p.Cys2537=) single nucleotide variant not provided [RCV003572493] Chr3:58169783 [GRCh38]
Chr3:58155510 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2548G>A (p.Ala850Thr) single nucleotide variant not provided [RCV003572597] Chr3:58111854 [GRCh38]
Chr3:58097581 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1796A>G (p.Gln599Arg) single nucleotide variant not provided [RCV003879291] Chr3:58106728 [GRCh38]
Chr3:58092455 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.542-8G>A single nucleotide variant not provided [RCV003579125] Chr3:58078709 [GRCh38]
Chr3:58064436 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2118C>T (p.Cys706=) single nucleotide variant not provided [RCV003879337] Chr3:58109241 [GRCh38]
Chr3:58094968 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7172G>T (p.Gly2391Val) single nucleotide variant not provided [RCV003694414] Chr3:58163304 [GRCh38]
Chr3:58149031 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4597C>T (p.Pro1533Ser) single nucleotide variant not provided [RCV003660252] Chr3:58134698 [GRCh38]
Chr3:58120425 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.489G>A (p.Gln163=) single nucleotide variant not provided [RCV003576382] Chr3:58077242 [GRCh38]
Chr3:58062969 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2720C>T (p.Thr907Met) single nucleotide variant not provided [RCV003828616] Chr3:58112293 [GRCh38]
Chr3:58098020 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2671G>A (p.Asp891Asn) single nucleotide variant not provided [RCV003880572] Chr3:58112244 [GRCh38]
Chr3:58097971 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1934C>G (p.Pro645Arg) single nucleotide variant not provided [RCV003546301] Chr3:58106866 [GRCh38]
Chr3:58092593 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7248A>G (p.Thr2416=) single nucleotide variant not provided [RCV003849071] Chr3:58168489 [GRCh38]
Chr3:58154216 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6245-14C>A single nucleotide variant not provided [RCV003696028] Chr3:58150091 [GRCh38]
Chr3:58135818 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2642A>C (p.Asn881Thr) single nucleotide variant not provided [RCV003543849] Chr3:58112215 [GRCh38]
Chr3:58097942 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6705G>A (p.Lys2235=) single nucleotide variant not provided [RCV003663460] Chr3:58154861 [GRCh38]
Chr3:58140588 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4862-15del deletion not provided [RCV003687979] Chr3:58138267 [GRCh38]
Chr3:58123994 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5304T>C (p.Ser1768=) single nucleotide variant not provided [RCV003695246] Chr3:58143492 [GRCh38]
Chr3:58129219 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2576-2A>T single nucleotide variant not provided [RCV003714328] Chr3:58112147 [GRCh38]
Chr3:58097874 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.151A>G (p.Ile51Val) single nucleotide variant not provided [RCV003827318] Chr3:58008715 [GRCh38]
Chr3:57994442 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1942-2_1945del deletion not provided [RCV003693845] Chr3:58108453..58108458 [GRCh38]
Chr3:58094180..58094185 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.1201A>C (p.Thr401Pro) single nucleotide variant not provided [RCV003572917] Chr3:58098764 [GRCh38]
Chr3:58084491 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4813C>T (p.Arg1605Cys) single nucleotide variant not provided [RCV003828145] Chr3:58136120 [GRCh38]
Chr3:58121847 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.7246A>C (p.Thr2416Pro) single nucleotide variant not provided [RCV003662707] Chr3:58168487 [GRCh38]
Chr3:58154214 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7443A>T (p.Ser2481=) single nucleotide variant not provided [RCV003879612] Chr3:58169615 [GRCh38]
Chr3:58155342 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2592A>G (p.Lys864=) single nucleotide variant not provided [RCV003575289] Chr3:58112165 [GRCh38]
Chr3:58097892 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.292+16G>T single nucleotide variant not provided [RCV003877215] Chr3:58008872 [GRCh38]
Chr3:57994599 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2934C>T (p.Asp978=) single nucleotide variant not provided [RCV003545894] Chr3:58121311 [GRCh38]
Chr3:58107038 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3177C>T (p.Ala1059=) single nucleotide variant not provided [RCV003574012] Chr3:58123143 [GRCh38]
Chr3:58108870 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2283A>G (p.Glu761=) single nucleotide variant not provided [RCV003692158] Chr3:58109659 [GRCh38]
Chr3:58095386 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2485-4A>G single nucleotide variant not provided [RCV003829685] Chr3:58111787 [GRCh38]
Chr3:58097514 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7728G>C (p.Lys2576Asn) single nucleotide variant not provided [RCV003713553] Chr3:58170681 [GRCh38]
Chr3:58156408 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1123A>G (p.Thr375Ala) single nucleotide variant not provided [RCV003686665] Chr3:58097953 [GRCh38]
Chr3:58083680 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6740C>T (p.Ser2247Leu) single nucleotide variant not provided [RCV003831359] Chr3:58154896 [GRCh38]
Chr3:58140623 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1267C>G (p.Pro423Ala) single nucleotide variant not provided [RCV003575293] Chr3:58098830 [GRCh38]
Chr3:58084557 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4125C>T (p.Cys1375=) single nucleotide variant not provided [RCV003661648] Chr3:58126665 [GRCh38]
Chr3:58112392 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2377G>A (p.Glu793Lys) single nucleotide variant not provided [RCV003661729] Chr3:58110063 [GRCh38]
Chr3:58095790 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5253T>A (p.Ile1751=) single nucleotide variant not provided [RCV003578767] Chr3:58142721 [GRCh38]
Chr3:58128448 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6101G>A (p.Gly2034Asp) single nucleotide variant not provided [RCV003573325] Chr3:58149859 [GRCh38]
Chr3:58135586 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5888-12G>A single nucleotide variant not provided [RCV003691031] Chr3:58148637 [GRCh38]
Chr3:58134364 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6720C>T (p.Phe2240=) single nucleotide variant not provided [RCV003880359] Chr3:58154876 [GRCh38]
Chr3:58140603 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.622T>G (p.Trp208Gly) single nucleotide variant not provided [RCV003688020] Chr3:58078797 [GRCh38]
Chr3:58064524 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.623G>A (p.Trp208Ter) single nucleotide variant not provided [RCV003577662] Chr3:58078798 [GRCh38]
Chr3:58064525 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4712A>G (p.Asn1571Ser) single nucleotide variant not provided [RCV003880452] Chr3:58136019 [GRCh38]
Chr3:58121746 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7021+11G>A single nucleotide variant not provided [RCV003659886] Chr3:58159697 [GRCh38]
Chr3:58145424 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1942-15C>A single nucleotide variant not provided [RCV003713593] Chr3:58108443 [GRCh38]
Chr3:58094170 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5770G>A (p.Ala1924Thr) single nucleotide variant not provided [RCV003877476] Chr3:58148247 [GRCh38]
Chr3:58133974 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7350C>T (p.Tyr2450=) single nucleotide variant not provided [RCV003715724] Chr3:58168591 [GRCh38]
Chr3:58154318 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4514+14A>G single nucleotide variant not provided [RCV003547569] Chr3:58132945 [GRCh38]
Chr3:58118672 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.293-11T>A single nucleotide variant not provided [RCV003544784] Chr3:58077035 [GRCh38]
Chr3:58062762 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6054C>T (p.Phe2018=) single nucleotide variant not provided [RCV003879018] Chr3:58148815 [GRCh38]
Chr3:58134542 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6360A>G (p.Lys2120=) single nucleotide variant not provided [RCV003576379] Chr3:58150220 [GRCh38]
Chr3:58135947 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1999G>A (p.Glu667Lys) single nucleotide variant not provided [RCV003573615] Chr3:58108515 [GRCh38]
Chr3:58094242 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6856G>A (p.Asp2286Asn) single nucleotide variant not provided [RCV003879523] Chr3:58156043 [GRCh38]
Chr3:58141770 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6877A>G (p.Met2293Val) single nucleotide variant not provided [RCV003572941] Chr3:58156064 [GRCh38]
Chr3:58141791 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2056-18G>T single nucleotide variant not provided [RCV003545599] Chr3:58109161 [GRCh38]
Chr3:58094888 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.44dup (p.Lys16fs) duplication not provided [RCV003713768] Chr3:58008606..58008607 [GRCh38]
Chr3:57994333..57994334 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.3884C>T (p.Thr1295Ile) single nucleotide variant not provided [RCV003688260] Chr3:58124491 [GRCh38]
Chr3:58110218 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5624C>A (p.Thr1875Lys) single nucleotide variant not provided [RCV003689726] Chr3:58146889 [GRCh38]
Chr3:58132616 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7781G>A (p.Gly2594Asp) single nucleotide variant not provided [RCV003573807] Chr3:58170734 [GRCh38]
Chr3:58156461 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6210del (p.Ile2070fs) deletion not provided [RCV003688322] Chr3:58149968 [GRCh38]
Chr3:58135695 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.1942-20A>G single nucleotide variant not provided [RCV003689117] Chr3:58108438 [GRCh38]
Chr3:58094165 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3890T>C (p.Phe1297Ser) single nucleotide variant not provided [RCV003578763] Chr3:58124497 [GRCh38]
Chr3:58110224 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5494G>A (p.Val1832Met) single nucleotide variant not provided [RCV003693210] Chr3:58145989 [GRCh38]
Chr3:58131716 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2914G>A (p.Gly972Arg) single nucleotide variant not provided [RCV003715926] Chr3:58121291 [GRCh38]
Chr3:58107018 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3126+19C>T single nucleotide variant not provided [RCV003879217] Chr3:58121522 [GRCh38]
Chr3:58107249 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1610+9C>G single nucleotide variant not provided [RCV003545086] Chr3:58104094 [GRCh38]
Chr3:58089821 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6348C>A (p.Asp2116Glu) single nucleotide variant not provided [RCV003882347] Chr3:58150208 [GRCh38]
Chr3:58135935 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5887+15C>T single nucleotide variant not provided [RCV003880935] Chr3:58148379 [GRCh38]
Chr3:58134106 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5461del (p.Ser1821fs) deletion not provided [RCV003572500] Chr3:58145956 [GRCh38]
Chr3:58131683 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4861+12del deletion not provided [RCV003689660] Chr3:58136178 [GRCh38]
Chr3:58121905 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1818C>T (p.Val606=) single nucleotide variant not provided [RCV003876369] Chr3:58106750 [GRCh38]
Chr3:58092477 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5758T>A (p.Leu1920Met) single nucleotide variant not provided [RCV003693061] Chr3:58148235 [GRCh38]
Chr3:58133962 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1805G>C (p.Gly602Ala) single nucleotide variant not provided [RCV003713096] Chr3:58106737 [GRCh38]
Chr3:58092464 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2988G>A (p.Val996=) single nucleotide variant not provided [RCV003713274] Chr3:58121365 [GRCh38]
Chr3:58107092 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2017A>G (p.Lys673Glu) single nucleotide variant not provided [RCV003880279] Chr3:58108533 [GRCh38]
Chr3:58094260 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2952C>T (p.Pro984=) single nucleotide variant not provided [RCV003572656] Chr3:58121329 [GRCh38]
Chr3:58107056 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1456G>C (p.Glu486Gln) single nucleotide variant not provided [RCV003663333] Chr3:58102313 [GRCh38]
Chr3:58088040 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7198+12T>C single nucleotide variant not provided [RCV003713501] Chr3:58163342 [GRCh38]
Chr3:58149069 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1395A>G (p.Lys465=) single nucleotide variant not provided [RCV003881538] Chr3:58102252 [GRCh38]
Chr3:58087979 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5361A>T (p.Arg1787Ser) single nucleotide variant not provided [RCV003693715] Chr3:58143549 [GRCh38]
Chr3:58129276 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4277T>C (p.Ile1426Thr) single nucleotide variant not provided [RCV003713671] Chr3:58130795 [GRCh38]
Chr3:58116522 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1398_1420del (p.Val467fs) deletion not provided [RCV003688321] Chr3:58102254..58102276 [GRCh38]
Chr3:58087981..58088003 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.4862-13A>C single nucleotide variant not provided [RCV003876710] Chr3:58138269 [GRCh38]
Chr3:58123996 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1142C>G (p.Thr381Arg) single nucleotide variant not provided [RCV003546157] Chr3:58097972 [GRCh38]
Chr3:58083699 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6589C>A (p.Arg2197=) single nucleotide variant not provided [RCV003882144] Chr3:58153596 [GRCh38]
Chr3:58139323 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7391G>A (p.Gly2464Asp) single nucleotide variant not provided [RCV003662852] Chr3:58168632 [GRCh38]
Chr3:58154359 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3098A>C (p.Glu1033Ala) single nucleotide variant not provided [RCV003824919] Chr3:58121475 [GRCh38]
Chr3:58107202 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.546G>A (p.Leu182=) single nucleotide variant not provided [RCV003877812] Chr3:58078721 [GRCh38]
Chr3:58064448 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.279G>A (p.Lys93=) single nucleotide variant not provided [RCV003826689] Chr3:58008843 [GRCh38]
Chr3:57994570 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.787+13C>G single nucleotide variant not provided [RCV003688463] Chr3:58081789 [GRCh38]
Chr3:58067516 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4514+16_4514+27del deletion not provided [RCV003690460] Chr3:58132939..58132950 [GRCh38]
Chr3:58118666..58118677 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6415C>T (p.Arg2139Cys) single nucleotide variant not provided [RCV003826158] Chr3:58153422 [GRCh38]
Chr3:58139149 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3906T>C (p.His1302=) single nucleotide variant not provided [RCV003826816] Chr3:58125588 [GRCh38]
Chr3:58111315 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7556G>T (p.Gly2519Val) single nucleotide variant not provided [RCV003544058] Chr3:58169728 [GRCh38]
Chr3:58155455 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4765A>G (p.Met1589Val) single nucleotide variant not provided [RCV003712837] Chr3:58136072 [GRCh38]
Chr3:58121799 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2605A>T (p.Thr869Ser) single nucleotide variant not provided [RCV003663185] Chr3:58112178 [GRCh38]
Chr3:58097905 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.553G>C (p.Asp185His) single nucleotide variant not provided [RCV003690534] Chr3:58078728 [GRCh38]
Chr3:58064455 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2485-13G>A single nucleotide variant not provided [RCV003826967] Chr3:58111778 [GRCh38]
Chr3:58097505 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2698G>A (p.Asp900Asn) single nucleotide variant not provided [RCV003882317] Chr3:58112271 [GRCh38]
Chr3:58097998 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7242A>G (p.Pro2414=) single nucleotide variant not provided [RCV003880754] Chr3:58168483 [GRCh38]
Chr3:58154210 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3333C>T (p.Ile1111=) single nucleotide variant not provided [RCV003544146] Chr3:58123299 [GRCh38]
Chr3:58109026 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.787G>A (p.Gly263Arg) single nucleotide variant not provided [RCV003881890] Chr3:58081776 [GRCh38]
Chr3:58067503 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6722A>G (p.Asp2241Gly) single nucleotide variant not provided [RCV003693315] Chr3:58154878 [GRCh38]
Chr3:58140605 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3436G>A (p.Gly1146Arg) single nucleotide variant not provided [RCV003715006] Chr3:58123402 [GRCh38]
Chr3:58109129 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1942-10T>A single nucleotide variant not provided [RCV003545545] Chr3:58108448 [GRCh38]
Chr3:58094175 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.775G>T (p.Ala259Ser) single nucleotide variant not provided [RCV003828533] Chr3:58081764 [GRCh38]
Chr3:58067491 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4254T>C (p.Val1418=) single nucleotide variant not provided [RCV003659903] Chr3:58130772 [GRCh38]
Chr3:58116499 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5772T>G (p.Ala1924=) single nucleotide variant not provided [RCV003688219] Chr3:58148249 [GRCh38]
Chr3:58133976 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.993C>A (p.Val331=) single nucleotide variant not provided [RCV003876345] Chr3:58097823 [GRCh38]
Chr3:58083550 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5426-17G>A single nucleotide variant not provided [RCV003879017] Chr3:58145904 [GRCh38]
Chr3:58131631 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.907-9C>T single nucleotide variant not provided [RCV003665737] Chr3:58096132 [GRCh38]
Chr3:58081859 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5284G>A (p.Gly1762Arg) single nucleotide variant not provided [RCV003580422] Chr3:58142752 [GRCh38]
Chr3:58128479 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4514+1G>A single nucleotide variant not provided [RCV003697543] Chr3:58132932 [GRCh38]
Chr3:58118659 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4519T>C (p.Phe1507Leu) single nucleotide variant not provided [RCV003716755] Chr3:58134620 [GRCh38]
Chr3:58120347 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7418-16C>G single nucleotide variant not provided [RCV003833740] Chr3:58169574 [GRCh38]
Chr3:58155301 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3899G>C (p.Gly1300Ala) single nucleotide variant not provided [RCV003850391] Chr3:58125581 [GRCh38]
Chr3:58111308 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4196T>A (p.Ile1399Asn) single nucleotide variant not provided [RCV003549986] Chr3:58126736 [GRCh38]
Chr3:58112463 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4956T>A (p.Val1652=) single nucleotide variant not provided [RCV003831972] Chr3:58138376 [GRCh38]
Chr3:58124103 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5345G>A (p.Gly1782Asp) single nucleotide variant not provided [RCV003580792] Chr3:58143533 [GRCh38]
Chr3:58129260 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6634+12G>A single nucleotide variant not provided [RCV003811465] Chr3:58153653 [GRCh38]
Chr3:58139380 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1993C>T (p.Leu665=) single nucleotide variant not provided [RCV003665576] Chr3:58108509 [GRCh38]
Chr3:58094236 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2595G>A (p.Pro865=) single nucleotide variant not provided [RCV003834183] Chr3:58112168 [GRCh38]
Chr3:58097895 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6090A>C (p.Ala2030=) single nucleotide variant not provided [RCV003698135] Chr3:58148851 [GRCh38]
Chr3:58134578 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1147+5C>T single nucleotide variant not provided [RCV003557485] Chr3:58097982 [GRCh38]
Chr3:58083709 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.985-12T>G single nucleotide variant not provided [RCV003580979] Chr3:58097803 [GRCh38]
Chr3:58083530 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5572A>G (p.Ile1858Val) single nucleotide variant not provided [RCV003549287] Chr3:58146837 [GRCh38]
Chr3:58132564 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7635G>A (p.Leu2545=) single nucleotide variant not provided [RCV003580989] Chr3:58170588 [GRCh38]
Chr3:58156315 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2892C>G (p.Phe964Leu) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV003989853]|not provided [RCV003666076] Chr3:58121269 [GRCh38]
Chr3:58106996 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.4510C>T (p.Arg1504Cys) single nucleotide variant not provided [RCV003580097] Chr3:58132927 [GRCh38]
Chr3:58118654 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.995T>A (p.Leu332His) single nucleotide variant not provided [RCV003849963] Chr3:58097825 [GRCh38]
Chr3:58083552 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2781T>G (p.Asp927Glu) single nucleotide variant not provided [RCV003698347] Chr3:58118907 [GRCh38]
Chr3:58104634 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3066A>C (p.Gly1022=) single nucleotide variant not provided [RCV003663918] Chr3:58121443 [GRCh38]
Chr3:58107170 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7621+14C>A single nucleotide variant not provided [RCV003834494] Chr3:58169807 [GRCh38]
Chr3:58155534 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5916C>G (p.Gly1972=) single nucleotide variant not provided [RCV003699453] Chr3:58148677 [GRCh38]
Chr3:58134404 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6008G>A (p.Arg2003His) single nucleotide variant not provided [RCV003548728] Chr3:58148769 [GRCh38]
Chr3:58134496 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2292C>T (p.His764=) single nucleotide variant not provided [RCV003697583] Chr3:58109668 [GRCh38]
Chr3:58095395 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2787C>T (p.Ile929=) single nucleotide variant not provided [RCV003580555] Chr3:58118913 [GRCh38]
Chr3:58104640 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.973G>A (p.Gly325Arg) single nucleotide variant not provided [RCV003700877] Chr3:58096207 [GRCh38]
Chr3:58081934 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2629A>T (p.Lys877Ter) single nucleotide variant not provided [RCV003697309] Chr3:58112202 [GRCh38]
Chr3:58097929 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.5110-6G>A single nucleotide variant not provided [RCV003702598] Chr3:58141852 [GRCh38]
Chr3:58127579 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7383C>T (p.His2461=) single nucleotide variant not provided [RCV003703644] Chr3:58168624 [GRCh38]
Chr3:58154351 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7231C>T (p.Arg2411Ter) single nucleotide variant not provided [RCV003674494] Chr3:58168472 [GRCh38]
Chr3:58154199 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.3126+19C>A single nucleotide variant not provided [RCV003580618] Chr3:58121522 [GRCh38]
Chr3:58107249 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6833T>C (p.Val2278Ala) single nucleotide variant not provided [RCV003672175] Chr3:58156020 [GRCh38]
Chr3:58141747 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7417+20G>A single nucleotide variant not provided [RCV003838149] Chr3:58168678 [GRCh38]
Chr3:58154405 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3937A>G (p.Ile1313Val) single nucleotide variant not provided [RCV003670504] Chr3:58125619 [GRCh38]
Chr3:58111346 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.303del (p.Ile102fs) deletion not provided [RCV003701544] Chr3:58077055 [GRCh38]
Chr3:58062782 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.1610+2_1610+4del deletion not provided [RCV003550115] Chr3:58104087..58104089 [GRCh38]
Chr3:58089814..58089816 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.6154C>G (p.Leu2052Val) single nucleotide variant not provided [RCV003839782] Chr3:58149912 [GRCh38]
Chr3:58135639 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.323A>G (p.Lys108Arg) single nucleotide variant not provided [RCV003579739] Chr3:58077076 [GRCh38]
Chr3:58062803 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5555-11C>G single nucleotide variant not provided [RCV003664061] Chr3:58146809 [GRCh38]
Chr3:58132536 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5285-8C>T single nucleotide variant not provided [RCV003811467] Chr3:58143465 [GRCh38]
Chr3:58129192 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1417A>G (p.Thr473Ala) single nucleotide variant not provided [RCV003835232] Chr3:58102274 [GRCh38]
Chr3:58088001 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2746-10C>A single nucleotide variant not provided [RCV003723699] Chr3:58118862 [GRCh38]
Chr3:58104589 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4061+11C>T single nucleotide variant not provided [RCV003550238] Chr3:58125754 [GRCh38]
Chr3:58111481 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3422C>G (p.Pro1141Arg) single nucleotide variant not provided [RCV003835439] Chr3:58123388 [GRCh38]
Chr3:58109115 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.292+18G>A single nucleotide variant not provided [RCV003816179] Chr3:58008874 [GRCh38]
Chr3:57994601 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1563G>A (p.Gly521=) single nucleotide variant not provided [RCV003580843] Chr3:58104038 [GRCh38]
Chr3:58089765 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6187C>A (p.Pro2063Thr) single nucleotide variant not provided [RCV003549155] Chr3:58149945 [GRCh38]
Chr3:58135672 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1611-18C>A single nucleotide variant not provided [RCV003832131] Chr3:58105062 [GRCh38]
Chr3:58090789 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6726C>G (p.Asp2242Glu) single nucleotide variant not provided [RCV003698515] Chr3:58154882 [GRCh38]
Chr3:58140609 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5238T>G (p.Pro1746=) single nucleotide variant not provided [RCV003670356] Chr3:58142706 [GRCh38]
Chr3:58128433 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.410A>G (p.Lys137Arg) single nucleotide variant not provided [RCV003674325] Chr3:58077163 [GRCh38]
Chr3:58062890 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6890A>G (p.Glu2297Gly) single nucleotide variant not provided [RCV003659626] Chr3:58159555 [GRCh38]
Chr3:58145282 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1789A>G (p.Asn597Asp) single nucleotide variant not provided [RCV003855616] Chr3:58106721 [GRCh38]
Chr3:58092448 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1809G>A (p.Ser603=) single nucleotide variant not provided [RCV003717274] Chr3:58106741 [GRCh38]
Chr3:58092468 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4369G>T (p.Val1457Leu) single nucleotide variant not provided [RCV003559314] Chr3:58130887 [GRCh38]
Chr3:58116614 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.461C>T (p.Pro154Leu) single nucleotide variant not provided [RCV003672381] Chr3:58077214 [GRCh38]
Chr3:58062941 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5284+7A>G single nucleotide variant not provided [RCV003725598] Chr3:58142759 [GRCh38]
Chr3:58128486 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.477C>T (p.Thr159=) single nucleotide variant not provided [RCV003850466] Chr3:58077230 [GRCh38]
Chr3:58062957 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4278T>C (p.Ile1426=) single nucleotide variant not provided [RCV003674219] Chr3:58130796 [GRCh38]
Chr3:58116523 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.62C>G (p.Thr21Arg) single nucleotide variant not provided [RCV003723791] Chr3:58008626 [GRCh38]
Chr3:57994353 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5736C>T (p.Ser1912=) single nucleotide variant not provided [RCV003672831] Chr3:58148213 [GRCh38]
Chr3:58133940 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3724+9C>T single nucleotide variant not provided [RCV003856489] Chr3:58123699 [GRCh38]
Chr3:58109426 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5870T>A (p.Leu1957Gln) single nucleotide variant FLNB-related disorder [RCV004723498]|not provided [RCV003813980] Chr3:58148347 [GRCh38]
Chr3:58134074 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2248C>T (p.Pro750Ser) single nucleotide variant not provided [RCV003814188] Chr3:58109624 [GRCh38]
Chr3:58095351 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7216T>A (p.Phe2406Ile) single nucleotide variant not provided [RCV003701723] Chr3:58168457 [GRCh38]
Chr3:58154184 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.586G>A (p.Asp196Asn) single nucleotide variant not provided [RCV003674156]|not specified [RCV004701764] Chr3:58078761 [GRCh38]
Chr3:58064488 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.293-20G>A single nucleotide variant not provided [RCV003837385] Chr3:58077026 [GRCh38]
Chr3:58062753 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5946C>G (p.Gly1982=) single nucleotide variant not provided [RCV003701755] Chr3:58148707 [GRCh38]
Chr3:58134434 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1477G>T (p.Gly493Cys) single nucleotide variant not provided [RCV003723344] Chr3:58102334 [GRCh38]
Chr3:58088061 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7709A>G (p.Asn2570Ser) single nucleotide variant not provided [RCV003814873] Chr3:58170662 [GRCh38]
Chr3:58156389 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4028C>T (p.Thr1343Ile) single nucleotide variant not provided [RCV003666632] Chr3:58125710 [GRCh38]
Chr3:58111437 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3826G>A (p.Ala1276Thr) single nucleotide variant not provided [RCV003725405] Chr3:58124433 [GRCh38]
Chr3:58110160 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7060G>A (p.Val2354Ile) single nucleotide variant not provided [RCV003668124] Chr3:58163192 [GRCh38]
Chr3:58148919 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3698T>A (p.Val1233Asp) single nucleotide variant not provided [RCV003699636] Chr3:58123664 [GRCh38]
Chr3:58109391 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2863+1G>A single nucleotide variant not provided [RCV003700356] Chr3:58118990 [GRCh38]
Chr3:58104717 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.5386C>A (p.His1796Asn) single nucleotide variant not provided [RCV003701320] Chr3:58143574 [GRCh38]
Chr3:58129301 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3108G>A (p.Leu1036=) single nucleotide variant not provided [RCV003854468] Chr3:58121485 [GRCh38]
Chr3:58107212 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1980C>G (p.Cys660Trp) single nucleotide variant not provided [RCV003699610] Chr3:58108496 [GRCh38]
Chr3:58094223 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4390+2T>C single nucleotide variant not provided [RCV003723606] Chr3:58130910 [GRCh38]
Chr3:58116637 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.3063T>C (p.Asp1021=) single nucleotide variant not provided [RCV003854489] Chr3:58121440 [GRCh38]
Chr3:58107167 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7169A>G (p.Tyr2390Cys) single nucleotide variant not provided [RCV003834818] Chr3:58163301 [GRCh38]
Chr3:58149028 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1748-5C>T single nucleotide variant not provided [RCV003817279] Chr3:58106675 [GRCh38]
Chr3:58092402 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7622-7C>A single nucleotide variant not provided [RCV003558862] Chr3:58170568 [GRCh38]
Chr3:58156295 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5806A>G (p.Ser1936Gly) single nucleotide variant not provided [RCV003699814] Chr3:58148283 [GRCh38]
Chr3:58134010 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6553G>A (p.Val2185Met) single nucleotide variant Inborn genetic diseases [RCV004371536]|not provided [RCV003666280] Chr3:58153560 [GRCh38]
Chr3:58139287 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2418G>A (p.Thr806=) single nucleotide variant not provided [RCV003724759] Chr3:58110104 [GRCh38]
Chr3:58095831 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7539C>A (p.Ser2513Arg) single nucleotide variant not provided [RCV003723690] Chr3:58169711 [GRCh38]
Chr3:58155438 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4223-16A>G single nucleotide variant not provided [RCV003667516] Chr3:58130725 [GRCh38]
Chr3:58116452 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1147+8G>T single nucleotide variant not provided [RCV003671994] Chr3:58097985 [GRCh38]
Chr3:58083712 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7711G>A (p.Val2571Ile) single nucleotide variant not provided [RCV003815037] Chr3:58170664 [GRCh38]
Chr3:58156391 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7720G>A (p.Val2574Ile) single nucleotide variant not provided [RCV003832331] Chr3:58170673 [GRCh38]
Chr3:58156400 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3724+10A>G single nucleotide variant not provided [RCV003700269] Chr3:58123700 [GRCh38]
Chr3:58109427 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.893G>C (p.Gly298Ala) single nucleotide variant not provided [RCV003833392] Chr3:58094941 [GRCh38]
Chr3:58080668 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6557G>A (p.Gly2186Glu) single nucleotide variant not provided [RCV003700282] Chr3:58153564 [GRCh38]
Chr3:58139291 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4514+3A>C single nucleotide variant not provided [RCV003549992] Chr3:58132934 [GRCh38]
Chr3:58118661 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.460C>T (p.Pro154Ser) single nucleotide variant not provided [RCV003580165] Chr3:58077213 [GRCh38]
Chr3:58062940 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6846A>G (p.Ala2282=) single nucleotide variant not provided [RCV003671267] Chr3:58156033 [GRCh38]
Chr3:58141760 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1890C>A (p.Ser630Arg) single nucleotide variant not provided [RCV003668196] Chr3:58106822 [GRCh38]
Chr3:58092549 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3466G>A (p.Val1156Ile) single nucleotide variant not provided [RCV003837892] Chr3:58123432 [GRCh38]
Chr3:58109159 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1534G>T (p.Ala512Ser) single nucleotide variant not provided [RCV003668093] Chr3:58104009 [GRCh38]
Chr3:58089736 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2215G>A (p.Gly739Ser) single nucleotide variant not provided [RCV003671988] Chr3:58109591 [GRCh38]
Chr3:58095318 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4390+13C>A single nucleotide variant not provided [RCV003667872] Chr3:58130921 [GRCh38]
Chr3:58116648 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6045C>T (p.Gly2015=) single nucleotide variant not provided [RCV003814832] Chr3:58148806 [GRCh38]
Chr3:58134533 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5171T>A (p.Phe1724Tyr) single nucleotide variant not provided [RCV003854516] Chr3:58141919 [GRCh38]
Chr3:58127646 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5360G>C (p.Arg1787Thr) single nucleotide variant not provided [RCV003834150] Chr3:58143548 [GRCh38]
Chr3:58129275 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7021+24dup duplication not provided [RCV003671297] Chr3:58159704..58159705 [GRCh38]
Chr3:58145431..58145432 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.6716C>T (p.Thr2239Ile) single nucleotide variant not provided [RCV003666547] Chr3:58154872 [GRCh38]
Chr3:58140599 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3126+3C>G single nucleotide variant not provided [RCV003560800] Chr3:58121506 [GRCh38]
Chr3:58107233 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7029T>C (p.Tyr2343=) single nucleotide variant not provided [RCV003701057] Chr3:58163161 [GRCh38]
Chr3:58148888 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7021+12G>A single nucleotide variant not provided [RCV003837036] Chr3:58159698 [GRCh38]
Chr3:58145425 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4137G>A (p.Lys1379=) single nucleotide variant not provided [RCV003664002] Chr3:58126677 [GRCh38]
Chr3:58112404 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3724+14A>T single nucleotide variant not provided [RCV003671196] Chr3:58123704 [GRCh38]
Chr3:58109431 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1682G>A (p.Gly561Asp) single nucleotide variant not provided [RCV003557932] Chr3:58105151 [GRCh38]
Chr3:58090878 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7387G>T (p.Val2463Leu) single nucleotide variant not provided [RCV003725497] Chr3:58168628 [GRCh38]
Chr3:58154355 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.1346-4G>A single nucleotide variant not provided [RCV003666454] Chr3:58102199 [GRCh38]
Chr3:58087926 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6619G>A (p.Glu2207Lys) single nucleotide variant not provided [RCV003724427] Chr3:58153626 [GRCh38]
Chr3:58139353 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2323+11G>A single nucleotide variant not provided [RCV003815989] Chr3:58109710 [GRCh38]
Chr3:58095437 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3939C>A (p.Ile1313=) single nucleotide variant not provided [RCV003672734] Chr3:58125621 [GRCh38]
Chr3:58111348 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1556C>T (p.Thr519Ile) single nucleotide variant not provided [RCV003668858] Chr3:58104031 [GRCh38]
Chr3:58089758 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4391-14A>G single nucleotide variant not provided [RCV003580879] Chr3:58132794 [GRCh38]
Chr3:58118521 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2440C>T (p.Pro814Ser) single nucleotide variant not provided [RCV003855409] Chr3:58110126 [GRCh38]
Chr3:58095853 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6277G>A (p.Gly2093Arg) single nucleotide variant not provided [RCV003548761] Chr3:58150137 [GRCh38]
Chr3:58135864 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6858C>T (p.Asp2286=) single nucleotide variant not provided [RCV003811110] Chr3:58156045 [GRCh38]
Chr3:58141772 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4859C>T (p.Thr1620Met) single nucleotide variant not provided [RCV003836536] Chr3:58136166 [GRCh38]
Chr3:58121893 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6772+14G>T single nucleotide variant not provided [RCV003707925] Chr3:58154942 [GRCh38]
Chr3:58140669 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7198+7C>T single nucleotide variant not provided [RCV003552244] Chr3:58163337 [GRCh38]
Chr3:58149064 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3724+5del deletion not provided [RCV003857114] Chr3:58123693 [GRCh38]
Chr3:58109420 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4689C>G (p.Pro1563=) single nucleotide variant not provided [RCV003542866] Chr3:58135996 [GRCh38]
Chr3:58121723 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2864-16T>A single nucleotide variant not provided [RCV003542898] Chr3:58121225 [GRCh38]
Chr3:58106952 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3479A>T (p.Glu1160Val) single nucleotide variant not provided [RCV003819073] Chr3:58123445 [GRCh38]
Chr3:58109172 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2200-12T>C single nucleotide variant not provided [RCV003822999] Chr3:58109564 [GRCh38]
Chr3:58095291 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5263G>A (p.Val1755Ile) single nucleotide variant not provided [RCV003708283] Chr3:58142731 [GRCh38]
Chr3:58128458 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4165C>G (p.Pro1389Ala) single nucleotide variant not provided [RCV003823011] Chr3:58126705 [GRCh38]
Chr3:58112432 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4862-4C>A single nucleotide variant not provided [RCV003566420] Chr3:58138278 [GRCh38]
Chr3:58124005 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5065C>T (p.Arg1689Cys) single nucleotide variant not provided [RCV003841046] Chr3:58138485 [GRCh38]
Chr3:58124212 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.639+11G>C single nucleotide variant not provided [RCV003683163] Chr3:58078825 [GRCh38]
Chr3:58064552 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.906+6T>C single nucleotide variant not provided [RCV003552004] Chr3:58094960 [GRCh38]
Chr3:58080687 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2530G>A (p.Asp844Asn) single nucleotide variant not provided [RCV003704308] Chr3:58111836 [GRCh38]
Chr3:58097563 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6371T>A (p.Ile2124Asn) single nucleotide variant not provided [RCV003860886] Chr3:58153378 [GRCh38]
Chr3:58139105 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1241A>T (p.Tyr414Phe) single nucleotide variant not provided [RCV003681919] Chr3:58098804 [GRCh38]
Chr3:58084531 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6015C>G (p.Ala2005=) single nucleotide variant not provided [RCV003846555] Chr3:58148776 [GRCh38]
Chr3:58134503 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.962C>T (p.Pro321Leu) single nucleotide variant not provided [RCV003842196] Chr3:58096196 [GRCh38]
Chr3:58081923 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1436C>G (p.Thr479Ser) single nucleotide variant not provided [RCV003550567] Chr3:58102293 [GRCh38]
Chr3:58088020 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5648C>T (p.Thr1883Ile) single nucleotide variant not provided [RCV003842468] Chr3:58146913 [GRCh38]
Chr3:58132640 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1879A>T (p.Ile627Phe) single nucleotide variant not provided [RCV003565232] Chr3:58106811 [GRCh38]
Chr3:58092538 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6999C>T (p.Cys2333=) single nucleotide variant not provided [RCV003860316] Chr3:58159664 [GRCh38]
Chr3:58145391 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6505G>T (p.Val2169Phe) single nucleotide variant not provided [RCV003732870] Chr3:58153512 [GRCh38]
Chr3:58139239 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4613T>C (p.Val1538Ala) single nucleotide variant not provided [RCV003728690] Chr3:58134714 [GRCh38]
Chr3:58120441 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.907-8C>T single nucleotide variant not provided [RCV003845739] Chr3:58096133 [GRCh38]
Chr3:58081860 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4313G>A (p.Arg1438His) single nucleotide variant not provided [RCV003731963] Chr3:58130831 [GRCh38]
Chr3:58116558 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5860C>A (p.Leu1954Met) single nucleotide variant not provided [RCV003677817] Chr3:58148337 [GRCh38]
Chr3:58134064 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5426-5C>T single nucleotide variant not provided [RCV003819444] Chr3:58145916 [GRCh38]
Chr3:58131643 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6192C>A (p.Thr2064=) single nucleotide variant not provided [RCV003553094] Chr3:58149950 [GRCh38]
Chr3:58135677 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2199+6T>C single nucleotide variant not provided [RCV003564300] Chr3:58109328 [GRCh38]
Chr3:58095055 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2200-14C>T single nucleotide variant not provided [RCV003858286] Chr3:58109562 [GRCh38]
Chr3:58095289 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6443T>C (p.Met2148Thr) single nucleotide variant not provided [RCV003680440] Chr3:58153450 [GRCh38]
Chr3:58139177 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2153T>C (p.Ile718Thr) single nucleotide variant not provided [RCV003842117] Chr3:58109276 [GRCh38]
Chr3:58095003 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4302C>T (p.Gly1434=) single nucleotide variant not provided [RCV003732735] Chr3:58130820 [GRCh38]
Chr3:58116547 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5888-18A>G single nucleotide variant not provided [RCV003824112] Chr3:58148631 [GRCh38]
Chr3:58134358 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2061G>T (p.Gly687=) single nucleotide variant not provided [RCV003854236] Chr3:58109184 [GRCh38]
Chr3:58094911 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1278C>G (p.His426Gln) single nucleotide variant not provided [RCV003736283] Chr3:58098841 [GRCh38]
Chr3:58084568 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6367+13G>A single nucleotide variant not provided [RCV003729376] Chr3:58150240 [GRCh38]
Chr3:58135967 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.954G>A (p.Glu318=) single nucleotide variant not provided [RCV003566774] Chr3:58096188 [GRCh38]
Chr3:58081915 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3521C>T (p.Ser1174Leu) single nucleotide variant not provided [RCV003853060] Chr3:58123487 [GRCh38]
Chr3:58109214 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4972A>G (p.Thr1658Ala) single nucleotide variant not provided [RCV003857658] Chr3:58138392 [GRCh38]
Chr3:58124119 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7265A>G (p.Glu2422Gly) single nucleotide variant not provided [RCV003563247] Chr3:58168506 [GRCh38]
Chr3:58154233 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.690T>G (p.Val230=) single nucleotide variant not provided [RCV003566052] Chr3:58081679 [GRCh38]
Chr3:58067406 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.901G>C (p.Glu301Gln) single nucleotide variant not provided [RCV003730835] Chr3:58094949 [GRCh38]
Chr3:58080676 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2433T>C (p.Tyr811=) single nucleotide variant not provided [RCV003822189] Chr3:58110119 [GRCh38]
Chr3:58095846 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5678A>G (p.Lys1893Arg) single nucleotide variant not provided [RCV003858609] Chr3:58146943 [GRCh38]
Chr3:58132670 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5663A>G (p.Tyr1888Cys) single nucleotide variant not provided [RCV003733321] Chr3:58146928 [GRCh38]
Chr3:58132655 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5285-11G>C single nucleotide variant not provided [RCV003860270] Chr3:58143462 [GRCh38]
Chr3:58129189 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4823C>T (p.Ala1608Val) single nucleotide variant not provided [RCV003863445] Chr3:58136130 [GRCh38]
Chr3:58121857 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2608G>C (p.Val870Leu) single nucleotide variant not provided [RCV003866047] Chr3:58112181 [GRCh38]
Chr3:58097908 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3309A>T (p.Lys1103Asn) single nucleotide variant not provided [RCV003866052] Chr3:58123275 [GRCh38]
Chr3:58109002 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3260G>T (p.Cys1087Phe) single nucleotide variant not provided [RCV003819209] Chr3:58123226 [GRCh38]
Chr3:58108953 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7622-10T>C single nucleotide variant not provided [RCV003707747] Chr3:58170565 [GRCh38]
Chr3:58156292 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1942-19C>G single nucleotide variant not provided [RCV003858329] Chr3:58108439 [GRCh38]
Chr3:58094166 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.328A>C (p.Ile110Leu) single nucleotide variant not provided [RCV003858926] Chr3:58077081 [GRCh38]
Chr3:58062808 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7547C>T (p.Thr2516Ile) single nucleotide variant not provided [RCV003710093] Chr3:58169719 [GRCh38]
Chr3:58155446 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1091T>A (p.Leu364Ter) single nucleotide variant not provided [RCV003680856] Chr3:58097921 [GRCh38]
Chr3:58083648 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6844G>C (p.Ala2282Pro) single nucleotide variant not provided [RCV003822335] Chr3:58156031 [GRCh38]
Chr3:58141758 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6318G>A (p.Pro2106=) single nucleotide variant not provided [RCV003822278] Chr3:58150178 [GRCh38]
Chr3:58135905 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5590G>A (p.Ala1864Thr) single nucleotide variant not provided [RCV003719164] Chr3:58146855 [GRCh38]
Chr3:58132582 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3493G>T (p.Ala1165Ser) single nucleotide variant not provided [RCV003722067] Chr3:58123459 [GRCh38]
Chr3:58109186 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6576C>T (p.Gly2192=) single nucleotide variant not provided [RCV003819255] Chr3:58153583 [GRCh38]
Chr3:58139310 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.3982C>T (p.Pro1328Ser) single nucleotide variant not provided [RCV003709532] Chr3:58125664 [GRCh38]
Chr3:58111391 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7189G>A (p.Gly2397Ser) single nucleotide variant not provided [RCV003685207] Chr3:58163321 [GRCh38]
Chr3:58149048 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.231C>T (p.Leu77=) single nucleotide variant not provided [RCV003732969] Chr3:58008795 [GRCh38]
Chr3:57994522 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1710C>T (p.Phe570=) single nucleotide variant not provided [RCV003733133] Chr3:58105179 [GRCh38]
Chr3:58090906 [GRCh37]
Chr3:3p14.3		 benign
NM_001457.4(FLNB):c.2745+6G>A single nucleotide variant not provided [RCV003867354] Chr3:58112324 [GRCh38]
Chr3:58098051 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3516G>A (p.Ser1172=) single nucleotide variant not provided [RCV003729704] Chr3:58123482 [GRCh38]
Chr3:58109209 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5181+4C>G single nucleotide variant not provided [RCV003709976] Chr3:58141933 [GRCh38]
Chr3:58127660 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3405A>G (p.Lys1135=) single nucleotide variant not provided [RCV003722489] Chr3:58123371 [GRCh38]
Chr3:58109098 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.615A>G (p.Ala205=) single nucleotide variant not provided [RCV003684579] Chr3:58078790 [GRCh38]
Chr3:58064517 [GRCh37]
Chr3:3p14.3		 likely benign
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
GRCh37/hg19 3p14.3(chr3:58125268-58252939)x3 copy number gain not specified [RCV003986475] Chr3:58125268..58252939 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.960G>A (p.Leu320=) single nucleotide variant not provided [RCV003682992] Chr3:58096194 [GRCh38]
Chr3:58081921 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2521C>T (p.Pro841Ser) single nucleotide variant not provided [RCV003719138] Chr3:58111827 [GRCh38]
Chr3:58097554 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6894G>A (p.Ser2298=) single nucleotide variant not provided [RCV003562611] Chr3:58159559 [GRCh38]
Chr3:58145286 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1512A>G (p.Lys504=) single nucleotide variant not provided [RCV003823190] Chr3:58103987 [GRCh38]
Chr3:58089714 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2550A>C (p.Ala850=) single nucleotide variant not provided [RCV003845962] Chr3:58111856 [GRCh38]
Chr3:58097583 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7096G>A (p.Val2366Met) single nucleotide variant not provided [RCV003554834] Chr3:58163228 [GRCh38]
Chr3:58148955 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5507C>A (p.Ala1836Asp) single nucleotide variant not provided [RCV003871820] Chr3:58146002 [GRCh38]
Chr3:58131729 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.787+25_787+50del deletion not provided [RCV003870063] Chr3:58081787..58081812 [GRCh38]
Chr3:58067514..58067539 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7123G>A (p.Val2375Ile) single nucleotide variant not provided [RCV003721678] Chr3:58163255 [GRCh38]
Chr3:58148982 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_001457.4(FLNB):c.265C>T (p.Arg89Cys) single nucleotide variant not provided [RCV003818957] Chr3:58008829 [GRCh38]
Chr3:57994556 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7487C>G (p.Ser2496Trp) single nucleotide variant not provided [RCV003868074] Chr3:58169659 [GRCh38]
Chr3:58155386 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3222C>T (p.Gly1074=) single nucleotide variant not provided [RCV003711082] Chr3:58123188 [GRCh38]
Chr3:58108915 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3571G>A (p.Ala1191Thr) single nucleotide variant not provided [RCV003848524] Chr3:58123537 [GRCh38]
Chr3:58109264 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5295C>T (p.His1765=) single nucleotide variant not provided [RCV003711171] Chr3:58143483 [GRCh38]
Chr3:58129210 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7071C>T (p.Ile2357=) single nucleotide variant not provided [RCV003848574] Chr3:58163203 [GRCh38]
Chr3:58148930 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1409G>C (p.Arg470Pro) single nucleotide variant not provided [RCV003557205] Chr3:58102266 [GRCh38]
Chr3:58087993 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2637G>T (p.Pro879=) single nucleotide variant FLNB-related disorder [RCV004539078]|not provided [RCV003705826] Chr3:58112210 [GRCh38]
Chr3:58097937 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7531G>A (p.Asp2511Asn) single nucleotide variant not provided [RCV003681821] Chr3:58169703 [GRCh38]
Chr3:58155430 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4781A>C (p.Tyr1594Ser) single nucleotide variant not provided [RCV003555090] Chr3:58136088 [GRCh38]
Chr3:58121815 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.1346-253_1380del deletion not provided [RCV003684708] Chr3:58101950..58102237 [GRCh38]
Chr3:58087677..58087964 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.5397C>T (p.His1799=) single nucleotide variant not provided [RCV003565952] Chr3:58143585 [GRCh38]
Chr3:58129312 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1552A>G (p.Ser518Gly) single nucleotide variant not provided [RCV003679979] Chr3:58104027 [GRCh38]
Chr3:58089754 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6487G>A (p.Gly2163Ser) single nucleotide variant not provided [RCV003685918] Chr3:58153494 [GRCh38]
Chr3:58139221 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5284+20G>T single nucleotide variant not provided [RCV003870876] Chr3:58142772 [GRCh38]
Chr3:58128499 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.81C>T (p.Asn27=) single nucleotide variant not provided [RCV003870887] Chr3:58008645 [GRCh38]
Chr3:57994372 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2484+20A>G single nucleotide variant not provided [RCV003859365] Chr3:58110190 [GRCh38]
Chr3:58095917 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6103A>T (p.Ile2035Leu) single nucleotide variant not provided [RCV003684923] Chr3:58149861 [GRCh38]
Chr3:58135588 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7622-15C>T single nucleotide variant not provided [RCV003678291] Chr3:58170560 [GRCh38]
Chr3:58156287 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7063C>G (p.His2355Asp) single nucleotide variant not provided [RCV003711481] Chr3:58163195 [GRCh38]
Chr3:58148922 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2424A>C (p.Thr808=) single nucleotide variant not provided [RCV003719092] Chr3:58110110 [GRCh38]
Chr3:58095837 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6663A>G (p.Ala2221=) single nucleotide variant not provided [RCV003871142] Chr3:58154819 [GRCh38]
Chr3:58140546 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6891A>G (p.Glu2297=) single nucleotide variant not provided [RCV003562235] Chr3:58159556 [GRCh38]
Chr3:58145283 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5817G>C (p.Thr1939=) single nucleotide variant not provided [RCV003865335] Chr3:58148294 [GRCh38]
Chr3:58134021 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.163_171del (p.Glu55_Leu57del) deletion not provided [RCV003858170] Chr3:58008722..58008730 [GRCh38]
Chr3:57994449..57994457 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6851C>A (p.Ser2284Tyr) single nucleotide variant not provided [RCV003684962] Chr3:58156038 [GRCh38]
Chr3:58141765 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.787+8C>T single nucleotide variant not provided [RCV003845024] Chr3:58081784 [GRCh38]
Chr3:58067511 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.732G>A (p.Pro244=) single nucleotide variant not provided [RCV003720268] Chr3:58081721 [GRCh38]
Chr3:58067448 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3259T>C (p.Cys1087Arg) single nucleotide variant not provided [RCV003563504] Chr3:58123225 [GRCh38]
Chr3:58108952 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6758T>A (p.Ile2253Asn) single nucleotide variant not provided [RCV003552014] Chr3:58154914 [GRCh38]
Chr3:58140641 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5444A>T (p.Tyr1815Phe) single nucleotide variant not provided [RCV003869677] Chr3:58145939 [GRCh38]
Chr3:58131666 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6190A>G (p.Thr2064Ala) single nucleotide variant not provided [RCV003731423] Chr3:58149948 [GRCh38]
Chr3:58135675 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6244+12C>T single nucleotide variant not provided [RCV003847319] Chr3:58150014 [GRCh38]
Chr3:58135741 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5735G>A (p.Ser1912Asn) single nucleotide variant not provided [RCV003680800] Chr3:58148212 [GRCh38]
Chr3:58133939 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6081A>G (p.Thr2027=) single nucleotide variant not provided [RCV003847354] Chr3:58148842 [GRCh38]
Chr3:58134569 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2173G>A (p.Val725Met) single nucleotide variant not provided [RCV003720438] Chr3:58109296 [GRCh38]
Chr3:58095023 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1178_1180del (p.Val393del) deletion not provided [RCV003723133] Chr3:58098739..58098741 [GRCh38]
Chr3:58084466..58084468 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1148-4G>A single nucleotide variant not provided [RCV003710272] Chr3:58098707 [GRCh38]
Chr3:58084434 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6634+9T>G single nucleotide variant not provided [RCV003563778] Chr3:58153650 [GRCh38]
Chr3:58139377 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5714C>T (p.Thr1905Ile) single nucleotide variant not provided [RCV003681197] Chr3:58146979 [GRCh38]
Chr3:58132706 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2323+3G>A single nucleotide variant not provided [RCV003823166] Chr3:58109702 [GRCh38]
Chr3:58095429 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6062C>T (p.Ser2021Phe) single nucleotide variant not provided [RCV003554542] Chr3:58148823 [GRCh38]
Chr3:58134550 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.542-3C>T single nucleotide variant not provided [RCV003731994] Chr3:58078714 [GRCh38]
Chr3:58064441 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5202C>T (p.Val1734=) single nucleotide variant not provided [RCV003712438] Chr3:58142670 [GRCh38]
Chr3:58128397 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2461A>G (p.Ile821Val) single nucleotide variant not provided [RCV003870830] Chr3:58110147 [GRCh38]
Chr3:58095874 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3093A>G (p.Thr1031=) single nucleotide variant not provided [RCV003732204] Chr3:58121470 [GRCh38]
Chr3:58107197 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3277G>A (p.Gly1093Arg) single nucleotide variant not provided [RCV003719672] Chr3:58123243 [GRCh38]
Chr3:58108970 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2719A>G (p.Thr907Ala) single nucleotide variant not provided [RCV003869052] Chr3:58112292 [GRCh38]
Chr3:58098019 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.228G>C (p.Gln76His) single nucleotide variant not provided [RCV003685673] Chr3:58008792 [GRCh38]
Chr3:57994519 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7072G>A (p.Asp2358Asn) single nucleotide variant not provided [RCV003721937] Chr3:58163204 [GRCh38]
Chr3:58148931 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3133G>A (p.Ala1045Thr) single nucleotide variant not provided [RCV003721985] Chr3:58123099 [GRCh38]
Chr3:58108826 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5888-14G>T single nucleotide variant not provided [RCV003820551] Chr3:58148635 [GRCh38]
Chr3:58134362 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7572G>T (p.Lys2524Asn) single nucleotide variant not provided [RCV003820214] Chr3:58169744 [GRCh38]
Chr3:58155471 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.101A>G (p.Asn34Ser) single nucleotide variant not provided [RCV003844112] Chr3:58008665 [GRCh38]
Chr3:57994392 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3858G>A (p.Ala1286=) single nucleotide variant not provided [RCV003556865] Chr3:58124465 [GRCh38]
Chr3:58110192 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7437T>G (p.Pro2479=) single nucleotide variant not provided [RCV003565709] Chr3:58169609 [GRCh38]
Chr3:58155336 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5626T>C (p.Cys1876Arg) single nucleotide variant not provided [RCV003708442] Chr3:58146891 [GRCh38]
Chr3:58132618 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5362T>C (p.Tyr1788His) single nucleotide variant not provided [RCV003679313] Chr3:58143550 [GRCh38]
Chr3:58129277 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6304A>T (p.Thr2102Ser) single nucleotide variant not provided [RCV003542024] Chr3:58150164 [GRCh38]
Chr3:58135891 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2056G>T (p.Asp686Tyr) single nucleotide variant not provided [RCV003681928] Chr3:58109179 [GRCh38]
Chr3:58094906 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1872C>A (p.Asp624Glu) single nucleotide variant not provided [RCV003864794] Chr3:58106804 [GRCh38]
Chr3:58092531 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2195A>G (p.Tyr732Cys) single nucleotide variant not provided [RCV003555088]|not specified [RCV004587529] Chr3:58109318 [GRCh38]
Chr3:58095045 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6836C>T (p.Pro2279Leu) single nucleotide variant not provided [RCV003857820] Chr3:58156023 [GRCh38]
Chr3:58141750 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5984T>C (p.Val1995Ala) single nucleotide variant not provided [RCV003706001] Chr3:58148745 [GRCh38]
Chr3:58134472 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2251G>A (p.Gly751Ser) single nucleotide variant not provided [RCV003680663] Chr3:58109627 [GRCh38]
Chr3:58095354 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3417G>A (p.Ser1139=) single nucleotide variant not provided [RCV003863529] Chr3:58123383 [GRCh38]
Chr3:58109110 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1862T>C (p.Met621Thr) single nucleotide variant not provided [RCV003734919] Chr3:58106794 [GRCh38]
Chr3:58092521 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4191T>G (p.Val1397=) single nucleotide variant not provided [RCV003736469] Chr3:58126731 [GRCh38]
Chr3:58112458 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3034G>A (p.Gly1012Arg) single nucleotide variant not provided [RCV003552425] Chr3:58121411 [GRCh38]
Chr3:58107138 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7753G>A (p.Val2585Met) single nucleotide variant FLNB-related disorder [RCV004542230]|not provided [RCV003733367] Chr3:58170706 [GRCh38]
Chr3:58156433 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7450G>A (p.Glu2484Lys) single nucleotide variant not provided [RCV003847646] Chr3:58169622 [GRCh38]
Chr3:58155349 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3692T>G (p.Ile1231Ser) single nucleotide variant not provided [RCV003551429] Chr3:58123658 [GRCh38]
Chr3:58109385 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1398C>A (p.Gly466=) single nucleotide variant not provided [RCV003707452] Chr3:58102255 [GRCh38]
Chr3:58087982 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4282G>A (p.Gly1428Ser) single nucleotide variant not provided [RCV003823388] Chr3:58130800 [GRCh38]
Chr3:58116527 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5991G>A (p.Ser1997=) single nucleotide variant not provided [RCV003823506] Chr3:58148752 [GRCh38]
Chr3:58134479 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3950C>T (p.Pro1317Leu) single nucleotide variant not provided [RCV003708986] Chr3:58125632 [GRCh38]
Chr3:58111359 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7022-4C>T single nucleotide variant not provided [RCV003728268] Chr3:58163150 [GRCh38]
Chr3:58148877 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4101A>G (p.Gly1367=) single nucleotide variant not provided [RCV003563273] Chr3:58126641 [GRCh38]
Chr3:58112368 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7356C>G (p.Ile2452Met) single nucleotide variant not provided [RCV003566144] Chr3:58168597 [GRCh38]
Chr3:58154324 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.293-14G>A single nucleotide variant not provided [RCV003866021] Chr3:58077032 [GRCh38]
Chr3:58062759 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2324-3del deletion not provided [RCV003674667] Chr3:58110006 [GRCh38]
Chr3:58095733 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2575+10C>T single nucleotide variant not provided [RCV003704006] Chr3:58111891 [GRCh38]
Chr3:58097618 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.925A>G (p.Ser309Gly) single nucleotide variant not provided [RCV003820948] Chr3:58096159 [GRCh38]
Chr3:58081886 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6479A>C (p.Gln2160Pro) single nucleotide variant not provided [RCV003683036] Chr3:58153486 [GRCh38]
Chr3:58139213 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2484+4C>T single nucleotide variant not provided [RCV003732744] Chr3:58110174 [GRCh38]
Chr3:58095901 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6196C>G (p.Pro2066Ala) single nucleotide variant not provided [RCV003710758] Chr3:58149954 [GRCh38]
Chr3:58135681 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1405A>G (p.Ile469Val) single nucleotide variant not provided [RCV003705174] Chr3:58102262 [GRCh38]
Chr3:58087989 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7111T>A (p.Phe2371Ile) single nucleotide variant not provided [RCV003678880] Chr3:58163243 [GRCh38]
Chr3:58148970 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7534G>T (p.Ala2512Ser) single nucleotide variant not provided [RCV003710835] Chr3:58169706 [GRCh38]
Chr3:58155433 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.735G>A (p.Gly245=) single nucleotide variant not provided [RCV003562534] Chr3:58081724 [GRCh38]
Chr3:58067451 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7100T>C (p.Val2367Ala) single nucleotide variant not provided [RCV003822888] Chr3:58163232 [GRCh38]
Chr3:58148959 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4113G>T (p.Ser1371=) single nucleotide variant not provided [RCV003727365] Chr3:58126653 [GRCh38]
Chr3:58112380 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2717A>G (p.His906Arg) single nucleotide variant not provided [RCV003705331] Chr3:58112290 [GRCh38]
Chr3:58098017 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2622G>T (p.Gly874=) single nucleotide variant FLNB-related disorder [RCV004542242]|not provided [RCV003729897] Chr3:58112195 [GRCh38]
Chr3:58097922 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001457.4(FLNB):c.7558G>T (p.Ala2520Ser) single nucleotide variant not provided [RCV003819970] Chr3:58169730 [GRCh38]
Chr3:58155457 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7460C>T (p.Ser2487Phe) single nucleotide variant Inborn genetic diseases [RCV004621931]|not provided [RCV003860025] Chr3:58169632 [GRCh38]
Chr3:58155359 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6092-15G>A single nucleotide variant not provided [RCV003866385] Chr3:58149835 [GRCh38]
Chr3:58135562 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7579G>A (p.Val2527Met) single nucleotide variant not provided [RCV003556594] Chr3:58169751 [GRCh38]
Chr3:58155478 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6656G>A (p.Arg2219Gln) single nucleotide variant Inborn genetic diseases [RCV004369525]|not provided [RCV003860153] Chr3:58154812 [GRCh38]
Chr3:58140539 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001457.4(FLNB):c.2561G>A (p.Gly854Glu) single nucleotide variant not provided [RCV003678515] Chr3:58111867 [GRCh38]
Chr3:58097594 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5887+9G>C single nucleotide variant not provided [RCV003864673] Chr3:58148373 [GRCh38]
Chr3:58134100 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6216C>T (p.Ser2072=) single nucleotide variant not provided [RCV003708028] Chr3:58149974 [GRCh38]
Chr3:58135701 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1355C>T (p.Pro452Leu) single nucleotide variant not provided [RCV003848339] Chr3:58102212 [GRCh38]
Chr3:58087939 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2576-12A>G single nucleotide variant not provided [RCV003841342] Chr3:58112137 [GRCh38]
Chr3:58097864 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7720G>C (p.Val2574Leu) single nucleotide variant not provided [RCV003858757] Chr3:58170673 [GRCh38]
Chr3:58156400 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1406_1407delinsAT (p.Ile469Asn) indel not provided [RCV003565357] Chr3:58102263..58102264 [GRCh38]
Chr3:58087990..58087991 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1642G>A (p.Gly548Ser) single nucleotide variant not provided [RCV003706920] Chr3:58105111 [GRCh38]
Chr3:58090838 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4451C>A (p.Thr1484Asn) single nucleotide variant not provided [RCV003565358] Chr3:58132868 [GRCh38]
Chr3:58118595 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7423C>T (p.Arg2475Cys) single nucleotide variant not provided [RCV003821494] Chr3:58169595 [GRCh38]
Chr3:58155322 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5325_5326del (p.Glu1775fs) microsatellite not provided [RCV003708133] Chr3:58143511..58143512 [GRCh38]
Chr3:58129238..58129239 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.6836C>G (p.Pro2279Arg) single nucleotide variant not provided [RCV003680858] Chr3:58156023 [GRCh38]
Chr3:58141750 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3482C>T (p.Ala1161Val) single nucleotide variant not provided [RCV003555089] Chr3:58123448 [GRCh38]
Chr3:58109175 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1147+6G>A single nucleotide variant not provided [RCV003848406] Chr3:58097983 [GRCh38]
Chr3:58083710 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1640C>G (p.Ala547Gly) single nucleotide variant not provided [RCV003860295] Chr3:58105109 [GRCh38]
Chr3:58090836 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6068T>C (p.Phe2023Ser) single nucleotide variant not provided [RCV003552820] Chr3:58148829 [GRCh38]
Chr3:58134556 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5268G>A (p.Arg1756=) single nucleotide variant not provided [RCV003847479] Chr3:58142736 [GRCh38]
Chr3:58128463 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3258G>A (p.Glu1086=) single nucleotide variant not provided [RCV003734497] Chr3:58123224 [GRCh38]
Chr3:58108951 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3724+9C>A single nucleotide variant FLNB-related disorder [RCV004534682] Chr3:58123699 [GRCh38]
Chr3:58109426 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4515-24GT[9] microsatellite FLNB-related disorder [RCV004542343] Chr3:58134591..58134592 [GRCh38]
Chr3:58120318..58120319 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1404T>C (p.Arg468=) single nucleotide variant FLNB-related disorder [RCV004542432] Chr3:58102261 [GRCh38]
Chr3:58087988 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5934C>G (p.Ile1978Met) single nucleotide variant FLNB-related disorder [RCV004542666] Chr3:58148695 [GRCh38]
Chr3:58134422 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5025del (p.Tyr1676fs) deletion Spondylocarpotarsal synostosis syndrome [RCV003990113] Chr3:58138445 [GRCh38]
Chr3:58124172 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.1275T>A (p.Pro425=) single nucleotide variant FLNB-related disorder [RCV004544075] Chr3:58098838 [GRCh38]
Chr3:58084565 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6420G>T (p.Val2140=) single nucleotide variant FLNB-related disorder [RCV004534475] Chr3:58153427 [GRCh38]
Chr3:58139154 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3693C>A (p.Ile1231=) single nucleotide variant not provided [RCV003886308] Chr3:58123659 [GRCh38]
Chr3:58109386 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6768G>A (p.Glu2256=) single nucleotide variant FLNB-related disorder [RCV004542504] Chr3:58154924 [GRCh38]
Chr3:58140651 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.3408C>T (p.Val1136=) single nucleotide variant not specified [RCV004527174] Chr3:58123374 [GRCh38]
Chr3:58109101 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.7021+10A>C single nucleotide variant FLNB-related disorder [RCV004542345] Chr3:58159696 [GRCh38]
Chr3:58145423 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4365G>A (p.Leu1455=) single nucleotide variant FLNB-related disorder [RCV004534566] Chr3:58130883 [GRCh38]
Chr3:58116610 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.2774G>A (p.Gly925Asp) single nucleotide variant Spondylocarpotarsal synostosis syndrome [RCV004556170] Chr3:58118900 [GRCh38]
Chr3:58104627 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4520T>C (p.Phe1507Ser) single nucleotide variant Larsen syndrome [RCV004547413] Chr3:58134621 [GRCh38]
Chr3:58120348 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4523A>G (p.Lys1508Arg) single nucleotide variant Inborn genetic diseases [RCV004389460] Chr3:58134624 [GRCh38]
Chr3:58120351 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.146G>T (p.Arg49Leu) single nucleotide variant Inborn genetic diseases [RCV004389455] Chr3:58008710 [GRCh38]
Chr3:57994437 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4901T>C (p.Val1634Ala) single nucleotide variant Inborn genetic diseases [RCV004389461] Chr3:58138321 [GRCh38]
Chr3:58124048 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.641TCA[1] (p.Ile215del) microsatellite Atelosteogenesis type I [RCV004555272] Chr3:58081630..58081632 [GRCh38]
Chr3:58067357..58067359 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.1144G>T (p.Ala382Ser) single nucleotide variant Inborn genetic diseases [RCV004389454] Chr3:58097974 [GRCh38]
Chr3:58083701 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.928G>A (p.Asp310Asn) single nucleotide variant Larsen syndrome [RCV004547316] Chr3:58096162 [GRCh38]
Chr3:58081889 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.173G>T (p.Ser58Ile) single nucleotide variant Inborn genetic diseases [RCV004389456] Chr3:58008737 [GRCh38]
Chr3:57994464 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.7046C>T (p.Pro2349Leu) single nucleotide variant Inborn genetic diseases [RCV004389463] Chr3:58163178 [GRCh38]
Chr3:58148905 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2549C>T (p.Ala850Val) single nucleotide variant Inborn genetic diseases [RCV004389457] Chr3:58111855 [GRCh38]
Chr3:58097582 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3788G>A (p.Gly1263Asp) single nucleotide variant Inborn genetic diseases [RCV004389459] Chr3:58124395 [GRCh38]
Chr3:58110122 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4289G>A (p.Gly1430Glu) single nucleotide variant not specified [RCV004690966] Chr3:58130807 [GRCh38]
Chr3:58116534 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57994292)_(57994603_?)del deletion not provided [RCV004582259] Chr3:57994292..57994603 [GRCh37]
Chr3:3p14.3		 pathogenic
NC_000003.11:g.(?_58062753)_(58064561_?)del deletion not provided [RCV004582260] Chr3:58062753..58064561 [GRCh37]
Chr3:3p14.3		 pathogenic
NC_000003.11:g.(?_58062753)_(58067523_?)del deletion not provided [RCV004582261] Chr3:58062753..58067523 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57843440)_(58520833_?)del deletion not provided [RCV004582285] Chr3:57843440..58520833 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.7761G>A (p.Trp2587Ter) single nucleotide variant not provided [RCV004697620] Chr3:58170714 [GRCh38]
Chr3:58156441 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4181A>T (p.Asp1394Val) single nucleotide variant Inborn genetic diseases [RCV004625807] Chr3:58126721 [GRCh38]
Chr3:58112448 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.124A>C (p.Thr42Pro) single nucleotide variant Inborn genetic diseases [RCV004625808] Chr3:58008688 [GRCh38]
Chr3:57994415 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.125C>A (p.Thr42Asn) single nucleotide variant Inborn genetic diseases [RCV004625809] Chr3:58008689 [GRCh38]
Chr3:57994416 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5409G>A (p.Met1803Ile) single nucleotide variant Inborn genetic diseases [RCV004625810] Chr3:58143597 [GRCh38]
Chr3:58129324 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2195A>T (p.Tyr732Phe) single nucleotide variant Inborn genetic diseases [RCV004625811] Chr3:58109318 [GRCh38]
Chr3:58095045 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.5690A>T (p.Lys1897Met) single nucleotide variant Inborn genetic diseases [RCV004625812] Chr3:58146955 [GRCh38]
Chr3:58132682 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3061G>A (p.Asp1021Asn) single nucleotide variant Inborn genetic diseases [RCV004625817] Chr3:58121438 [GRCh38]
Chr3:58107165 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.310G>T (p.Asp104Tyr) single nucleotide variant Inborn genetic diseases [RCV004625820] Chr3:58077063 [GRCh38]
Chr3:58062790 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4265G>T (p.Ser1422Ile) single nucleotide variant Inborn genetic diseases [RCV004625821] Chr3:58130783 [GRCh38]
Chr3:58116510 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2768C>G (p.Thr923Ser) single nucleotide variant Inborn genetic diseases [RCV004625815] Chr3:58118894 [GRCh38]
Chr3:58104621 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5176C>T (p.Pro1726Ser) single nucleotide variant Inborn genetic diseases [RCV004625816] Chr3:58141924 [GRCh38]
Chr3:58127651 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6034C>G (p.Leu2012Val) single nucleotide variant Inborn genetic diseases [RCV004625818] Chr3:58148795 [GRCh38]
Chr3:58134522 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5981T>C (p.Val1994Ala) single nucleotide variant Inborn genetic diseases [RCV004625819] Chr3:58148742 [GRCh38]
Chr3:58134469 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2806G>A (p.Val936Met) single nucleotide variant Larsen syndrome [RCV004690458] Chr3:58118932 [GRCh38]
Chr3:58104659 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.7642G>A (p.Gly2548Arg) single nucleotide variant not specified [RCV004701139] Chr3:58170595 [GRCh38]
Chr3:58156322 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1773G>A (p.Gln591=) single nucleotide variant FLNB-related disorder [RCV004735348] Chr3:58106705 [GRCh38]
Chr3:58092432 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.1354C>G (p.Pro452Ala) single nucleotide variant FLNB-related disorder [RCV004736071] Chr3:58102211 [GRCh38]
Chr3:58087938 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1154G>C (p.Gly385Ala) single nucleotide variant not provided [RCV004776064] Chr3:58098717 [GRCh38]
Chr3:58084444 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1564A>G (p.Arg522Gly) single nucleotide variant not provided [RCV004761149]   uncertain significance
NM_001457.4(FLNB):c.3282_3283insAGCA (p.Cys1095fs) insertion Spondylocarpotarsal synostosis syndrome [RCV004771568] Chr3:58123248..58123249 [GRCh38]
Chr3:58108975..58108976 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.5081A>G (p.Asp1694Gly) single nucleotide variant Larsen syndrome [RCV004771762] Chr3:58138501 [GRCh38]
Chr3:58124228 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6004G>T (p.Ala2002Ser) single nucleotide variant not provided [RCV004773500] Chr3:58148765 [GRCh38]
Chr3:58134492 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4874C>T (p.Ala1625Val) single nucleotide variant FLNB-related disorder [RCV004729861] Chr3:58138294 [GRCh38]
Chr3:58124021 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.3946A>T (p.Ser1316Cys) single nucleotide variant not provided [RCV004769569] Chr3:58125628 [GRCh38]
Chr3:58111355 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2576G>A (p.Gly859Asp) single nucleotide variant not provided [RCV004772029] Chr3:58112149 [GRCh38]
Chr3:58097876 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.6368A>C (p.Glu2123Ala) single nucleotide variant not provided [RCV004762866]   uncertain significance
NM_001457.4(FLNB):c.607C>A (p.Gln203Lys) single nucleotide variant FLNB-related disorder [RCV004736620] Chr3:58078782 [GRCh38]
Chr3:58064509 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4419C>A (p.Asp1473Glu) single nucleotide variant Larsen syndrome [RCV004771773] Chr3:58132836 [GRCh38]
Chr3:58118563 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.913G>A (p.Val305Met) single nucleotide variant not provided [RCV004761077]   uncertain significance
NM_001457.4(FLNB):c.7328C>G (p.Thr2443Ser) single nucleotide variant Larsen syndrome [RCV004720640] Chr3:58168569 [GRCh38]
Chr3:58154296 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.614C>T (p.Ala205Val) single nucleotide variant FLNB-related disorder [RCV004724477] Chr3:58078789 [GRCh38]
Chr3:58064516 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_001457.4(FLNB):c.4037C>A (p.Pro1346His) single nucleotide variant not provided [RCV004762810]   uncertain significance
NM_001457.4(FLNB):c.2423C>T (p.Thr808Ile) single nucleotide variant not provided [RCV004775841] Chr3:58110109 [GRCh38]
Chr3:58095836 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.4739A>C (p.Tyr1580Ser) single nucleotide variant not provided [RCV004770992] Chr3:58136046 [GRCh38]
Chr3:58121773 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.2367_2371del (p.Ser789fs) deletion not provided [RCV004722725] Chr3:58110050..58110054 [GRCh38]
Chr3:58095777..58095781 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001457.4(FLNB):c.175C>T (p.Gln59Ter) single nucleotide variant not provided [RCV004771108] Chr3:58008739 [GRCh38]
Chr3:57994466 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1306A>G (p.Thr436Ala) single nucleotide variant not specified [RCV004771447] Chr3:58098869 [GRCh38]
Chr3:58084596 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1099G>T (p.Val367Leu) single nucleotide variant FLNB-related disorder [RCV004734983] Chr3:58097929 [GRCh38]
Chr3:58083656 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.524T>C (p.Val175Ala) single nucleotide variant FLNB-related disorder [RCV004726603] Chr3:58077277 [GRCh38]
Chr3:58063004 [GRCh37]
Chr3:3p14.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6034
Count of miRNA genes:1121
Interacting mature miRNAs:1410
Transcripts:ENST00000295956, ENST00000348383, ENST00000357272, ENST00000358537, ENST00000419752, ENST00000429972, ENST00000466455, ENST00000468939, ENST00000470231, ENST00000475487, ENST00000477629, ENST00000481470, ENST00000484981, ENST00000490882, ENST00000491408, ENST00000493452
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407042242GWAS691218_Hoptic cup area measurement QTL GWAS691218 (human)0.000007optic cup area measurement35802053958020540Human
407297604GWAS946580_Hlymphocyte count QTL GWAS946580 (human)6e-10lymphocyte countblood lymphocyte count (CMO:0000031)35805123558051236Human
406958146GWAS607122_Hcup-to-disc ratio measurement QTL GWAS607122 (human)2e-08cup-to-disc ratio measurement35802053958020540Human
407046726GWAS695702_Hdescending aortic diameter QTL GWAS695702 (human)9e-11descending aortic diameter35811045758110458Human
407213507GWAS862483_Hbody height QTL GWAS862483 (human)0.000004body height (VT:0001253)body height (CMO:0000106)35804547358045474Human
407004490GWAS653466_Hneutrophil count QTL GWAS653466 (human)9e-14neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)35804797458047975Human
407008331GWAS657307_Hneutrophil count QTL GWAS657307 (human)1e-11neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)35804797458047975Human
406958155GWAS607131_Hcup-to-disc ratio measurement QTL GWAS607131 (human)0.000005cup-to-disc ratio measurement35802053958020540Human
407241037GWAS890013_Haortic measurement QTL GWAS890013 (human)4e-13aortic measurementaorta measurement (CMO:0001474)35810613458106135Human
406996174GWAS645150_Hbody height QTL GWAS645150 (human)0.000001body height (VT:0001253)body height (CMO:0000106)35800867158008672Human
406927949GWAS576925_Hbody height QTL GWAS576925 (human)7e-21body height (VT:0001253)body height (CMO:0000106)35801715858017159Human
407283786GWAS932762_Hdescending aortic diameter QTL GWAS932762 (human)8e-11descending aortic diameter35808911958089120Human
407281098GWAS930074_Hdescending aortic diameter QTL GWAS930074 (human)3e-10descending aortic diameter35811574458115745Human
407111882GWAS760858_Hleukocyte count QTL GWAS760858 (human)5e-14leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)35805108458051085Human
407068877GWAS717853_Hbody height QTL GWAS717853 (human)2e-14body height (VT:0001253)body height (CMO:0000106)35816860058168601Human
407302486GWAS951462_Hbreast cancer QTL GWAS951462 (human)0.000003breast cancer35808406258084063Human
407245397GWAS894373_Haortic measurement QTL GWAS894373 (human)1e-10aortic measurementaorta measurement (CMO:0001474)35810613458106135Human
407291224GWAS940200_Haortic measurement QTL GWAS940200 (human)3e-12aortic measurementaorta measurement (CMO:0001474)35810613458106135Human
407181403GWAS830379_Hcup-to-disc ratio measurement QTL GWAS830379 (human)3e-12cup-to-disc ratio measurement35814444158144442Human
407046748GWAS695724_Hlow tension glaucoma QTL GWAS695724 (human)2e-08low tension glaucoma35804977058049771Human
406982114GWAS631090_Hheel bone mineral density QTL GWAS631090 (human)1e-08heel bone mineral densitybone mineral density (CMO:0001226)35804810758048108Human
407392233GWAS1041209_HCOVID-19 QTL GWAS1041209 (human)4e-08COVID-1935815020058150201Human
406968418GWAS617394_Hreticulocyte count QTL GWAS617394 (human)2e-13reticulocyte counttotal reticulocyte count (CMO:0003020)35805123558051236Human
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
407101924GWAS750900_Hleukocyte count QTL GWAS750900 (human)1e-19leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)35805287858052879Human
406995434GWAS644410_Hreticulocyte count QTL GWAS644410 (human)2e-27reticulocyte counttotal reticulocyte count (CMO:0003020)35802909158029092Human
407049707GWAS698683_Heating disorder QTL GWAS698683 (human)0.000001eating disorder35812004958120050Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
407107304GWAS756280_Hneutrophil count QTL GWAS756280 (human)1e-14neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)35805287858052879Human
407013486GWAS662462_Hopen-angle glaucoma QTL GWAS662462 (human)7e-13open-angle glaucoma35802569258025693Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human
406934258GWAS583234_Hoptic cup area measurement QTL GWAS583234 (human)1e-08optic cup area measurement35804977058049771Human
406917750GWAS566726_Hcup-to-disc ratio measurement QTL GWAS566726 (human)2e-11cup-to-disc ratio measurement35802053958020540Human
406995576GWAS644552_Hbody height QTL GWAS644552 (human)5e-11body height (VT:0001253)body height (CMO:0000106)35800867158008672Human
407276412GWAS925388_Hcup-to-disc ratio measurement QTL GWAS925388 (human)6e-16cup-to-disc ratio measurement35804977058049771Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
406993276GWAS642252_Hreticulocyte measurement QTL GWAS642252 (human)1e-29reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)35802909158029092Human
406958209GWAS607185_Hoptic cup area measurement QTL GWAS607185 (human)0.000005optic cup area measurement35804977058049771Human
406961282GWAS610258_Hgut microbiome measurement, taxonomic microbiome measurement QTL GWAS610258 (human)3e-08gut microbiome measurement, taxonomic microbiome measurement35806391258063913Human
406967812GWAS616788_Hreticulocyte count QTL GWAS616788 (human)9e-19reticulocyte counttotal reticulocyte count (CMO:0003020)35805120858051209Human
406958215GWAS607191_Hoptic cup area measurement QTL GWAS607191 (human)6e-11optic cup area measurement35804977058049771Human
407287055GWAS936031_Hbody height QTL GWAS936031 (human)1e-16body height (VT:0001253)body height (CMO:0000106)35803504658035047Human
407278602GWAS927578_Hascending aortic diameter QTL GWAS927578 (human)5e-18ascending aortic diameter35811469658114699Human
407028620GWAS677596_Hresponse to carboplatin, response to antineoplastic agent QTL GWAS677596 (human)0.000004response to carboplatin, response to antineoplastic agent35804147058041471Human
407287049GWAS936025_Hbody height QTL GWAS936025 (human)1e-195body height (VT:0001253)body height (CMO:0000106)35801715858017159Human
407393304GWAS1042280_Hcup-to-disc ratio measurement QTL GWAS1042280 (human)8e-10cup-to-disc ratio measurement35816894458168945Human
407010579GWAS659555_Hmonocyte count QTL GWAS659555 (human)5e-10monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)35804328958043290Human
407035155GWAS684131_Hmyeloid white cell count QTL GWAS684131 (human)5e-19myeloid white cell countwhite blood cell count (CMO:0000027)35804797458047975Human
406926738GWAS575714_Hbullous pemphigoid, trait in response to hypoglycemic agent QTL GWAS575714 (human)0.000008bullous pemphigoid, trait in response to hypoglycemic agent35802457358024574Human
407039254GWAS688230_Hsystemic scleroderma QTL GWAS688230 (human)3e-10systemic scleroderma35814578858145789Human
406923035GWAS572011_Hcup-to-disc ratio measurement QTL GWAS572011 (human)0.0000002cup-to-disc ratio measurement35802053958020540Human
407287066GWAS936042_Hbody height QTL GWAS936042 (human)1e-34body height (VT:0001253)body height (CMO:0000106)35812915758129158Human
406897182GWAS546158_Hreticulocyte count QTL GWAS546158 (human)4e-18reticulocyte counttotal reticulocyte count (CMO:0003020)35805120858051209Human
406964895GWAS613871_Hreticulocyte count QTL GWAS613871 (human)5e-12reticulocyte counttotal reticulocyte count (CMO:0003020)35805123558051236Human
407319847GWAS968823_Haortic measurement QTL GWAS968823 (human)7e-09aortic measurementaorta measurement (CMO:0001474)35816098458160985Human
406997792GWAS646768_Hreticulocyte measurement QTL GWAS646768 (human)8e-26reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)35805123558051236Human
407311779GWAS960755_HBMI-adjusted waist circumference QTL GWAS960755 (human)2e-09BMI-adjusted waist circumference35810977358109774Human
407337250GWAS986226_Hleukocyte count QTL GWAS986226 (human)2e-08leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)35805168458051685Human
407287840GWAS936816_Hbody height QTL GWAS936816 (human)4e-11body height (VT:0001253)body height (CMO:0000106)35811683458116835Human
407282988GWAS931964_Hascending aortic diameter QTL GWAS931964 (human)1e-16ascending aortic diameter35810613458106135Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
407038513GWAS687489_Hmyeloid white cell count QTL GWAS687489 (human)6e-17myeloid white cell countwhite blood cell count (CMO:0000027)35804797458047975Human
406988081GWAS637057_Hascending aortic diameter QTL GWAS637057 (human)7e-19ascending aortic diameter35811469658114699Human
407359024GWAS1008000_HBMI-adjusted waist circumference QTL GWAS1008000 (human)3e-10BMI-adjusted waist circumference35810973958109740Human
407042234GWAS691210_Hoptic cup area measurement QTL GWAS691210 (human)1e-08optic cup area measurement35802053958020540Human
407210431GWAS859407_Hbody height QTL GWAS859407 (human)4e-08body height (VT:0001253)body height (CMO:0000106)35804547358045474Human
407244348GWAS893324_Haortic measurement QTL GWAS893324 (human)1e-13aortic measurementaorta measurement (CMO:0001474)35810613458106135Human
407040057GWAS689033_Hopen-angle glaucoma QTL GWAS689033 (human)2e-16open-angle glaucoma35802569258025693Human
407251645GWAS900621_Hlymphocyte count QTL GWAS900621 (human)7e-11lymphocyte countblood lymphocyte count (CMO:0000031)35810648158106482Human
406975165GWAS624141_Hreticulocyte count QTL GWAS624141 (human)1e-16reticulocyte counttotal reticulocyte count (CMO:0003020)35805120858051209Human

Markers in Region
D3S1581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,597,274 - 48,597,423UniSTSGRCh37
Build 36348,572,278 - 48,572,427RGDNCBI36
Celera348,553,126 - 48,553,249RGD
Marshfield Genetic Map370.61UniSTS
Marshfield Genetic Map370.61RGD
Genethon Genetic Map367.7UniSTS
Stanford-G3 RH Map32163.0UniSTS
GeneMap99-G3 RH Map32061.0UniSTS
STS-M62994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,157,508 - 58,157,782UniSTSGRCh37
Build 36358,132,548 - 58,132,822RGDNCBI36
Celera358,172,074 - 58,172,348RGD
Cytogenetic Map3p14.3UniSTS
HuRef358,254,924 - 58,255,198UniSTS
TNG Radiation Hybrid Map335772.0UniSTS
GeneMap99-GB4 RH Map3191.54UniSTS
NCBI RH Map3544.7UniSTS
SHGC-34580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,996,225 - 57,996,374UniSTSGRCh37
Build 36357,971,265 - 57,971,414RGDNCBI36
Celera358,010,237 - 58,010,386RGD
Cytogenetic Map3p14.3UniSTS
HuRef358,093,605 - 58,093,754UniSTS
Stanford-G3 RH Map32660.0UniSTS
GeneMap99-GB4 RH Map3191.29UniSTS
Whitehead-RH Map3240.0UniSTS
GeneMap99-G3 RH Map32558.0UniSTS
G09702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,054,442 - 58,054,567UniSTSGRCh37
Build 36358,029,482 - 58,029,607RGDNCBI36
Celera358,068,440 - 58,068,565RGD
Cytogenetic Map3p14.3UniSTS
HuRef358,151,810 - 58,151,935UniSTS
RH45533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,074,555 - 58,074,763UniSTSGRCh37
Build 36358,049,595 - 58,049,803RGDNCBI36
Cytogenetic Map3p14.3UniSTS
HuRef358,171,934 - 58,172,142UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
RH78421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,156,278 - 58,156,425UniSTSGRCh37
Build 36358,131,318 - 58,131,465RGDNCBI36
Celera358,170,844 - 58,170,991RGD
Cytogenetic Map3p14.3UniSTS
HuRef358,253,694 - 58,253,841UniSTS
D3S3923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,157,789 - 58,157,895UniSTSGRCh37
Build 36358,132,829 - 58,132,935RGDNCBI36
Celera358,172,355 - 58,172,461RGD
Cytogenetic Map3p14.3UniSTS
HuRef358,255,205 - 58,255,311UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
Whitehead-RH Map3233.2UniSTS
Whitehead-YAC Contig Map3 UniSTS
FLNB_8352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,157,149 - 58,157,946UniSTSGRCh37
Build 36358,132,189 - 58,132,986RGDNCBI36
Celera358,171,715 - 58,172,512RGD
HuRef358,254,565 - 58,255,362UniSTS
D3S4069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,018,927 - 58,019,068UniSTSGRCh37
Build 36357,993,967 - 57,994,108RGDNCBI36
Celera358,032,928 - 58,033,069RGD
Cytogenetic Map3p14.3UniSTS
HuRef358,116,303 - 58,116,444UniSTS
STS-H01996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,156,208 - 58,156,409UniSTSGRCh37
Build 36358,131,248 - 58,131,449RGDNCBI36
Celera358,170,774 - 58,170,975RGD
Cytogenetic Map3p14.3UniSTS
HuRef358,253,624 - 58,253,825UniSTS
TNG Radiation Hybrid Map335768.0UniSTS
GeneMap99-GB4 RH Map3190.91UniSTS
SHGC-77042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,157,745 - 58,157,948UniSTSGRCh37
Build 36358,132,785 - 58,132,988RGDNCBI36
Celera358,172,311 - 58,172,514RGD
Cytogenetic Map3p14.3UniSTS
HuRef358,255,161 - 58,255,364UniSTS
TNG Radiation Hybrid Map335768.0UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
RH16494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,996,231 - 57,996,368UniSTSGRCh37
Build 36357,971,271 - 57,971,408RGDNCBI36
Celera358,010,243 - 58,010,380RGD
Cytogenetic Map3p14.3UniSTS
HuRef358,093,611 - 58,093,748UniSTS
GeneMap99-GB4 RH Map3191.33UniSTS
NCBI RH Map3543.6UniSTS
SHGC-153438  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p14.3UniSTS
HuRef358,213,440 - 58,213,714UniSTS
TNG Radiation Hybrid Map335744.0UniSTS
D3S1581  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p14.3UniSTS
Stanford-G3 RH Map32163.0UniSTS
GeneMap99-G3 RH Map32061.0UniSTS
D3S1600  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p14.3UniSTS
Marshfield Genetic Map385.97UniSTS
Genethon Genetic Map385.7UniSTS
Whitehead-YAC Contig Map3 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB191258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB371580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB371581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB371582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC137936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF042166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF043045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF238609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF353666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF353667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL699183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M62994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000295956   ⟹   ENSP00000295956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,172,251 (+)Ensembl
Ensembl Acc Id: ENST00000358537   ⟹   ENSP00000351339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,400 - 58,172,251 (+)Ensembl
Ensembl Acc Id: ENST00000419752   ⟹   ENSP00000414532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,164,573 - 58,172,243 (+)Ensembl
Ensembl Acc Id: ENST00000429972   ⟹   ENSP00000415599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,400 - 58,172,251 (+)Ensembl
Ensembl Acc Id: ENST00000466455   ⟹   ENSP00000420199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,149,866 - 58,153,641 (+)Ensembl
Ensembl Acc Id: ENST00000468939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,154,610 - 58,159,691 (+)Ensembl
Ensembl Acc Id: ENST00000470231   ⟹   ENSP00000419954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,149,981 - 58,153,397 (+)Ensembl
Ensembl Acc Id: ENST00000475487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,156,027 - 58,163,512 (+)Ensembl
Ensembl Acc Id: ENST00000477629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,149,232 - 58,151,391 (+)Ensembl
Ensembl Acc Id: ENST00000481470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,132,078 - 58,172,251 (+)Ensembl
Ensembl Acc Id: ENST00000484981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,165,476 - 58,170,978 (+)Ensembl
Ensembl Acc Id: ENST00000490882   ⟹   ENSP00000420213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,400 - 58,170,774 (+)Ensembl
Ensembl Acc Id: ENST00000491408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,146,678 - 58,148,364 (+)Ensembl
Ensembl Acc Id: ENST00000493452   ⟹   ENSP00000418510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,078,329 - 58,170,777 (+)Ensembl
Ensembl Acc Id: ENST00000682097   ⟹   ENSP00000508183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,398 - 58,108,103 (+)Ensembl
Ensembl Acc Id: ENST00000682297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,132,837 - 58,172,243 (+)Ensembl
Ensembl Acc Id: ENST00000682503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,152,808 - 58,172,243 (+)Ensembl
Ensembl Acc Id: ENST00000682868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,141,013 (+)Ensembl
Ensembl Acc Id: ENST00000682871   ⟹   ENSP00000507805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,172,243 (+)Ensembl
Ensembl Acc Id: ENST00000682987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,105,853 (+)Ensembl
Ensembl Acc Id: ENST00000683114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,149,088 - 58,172,243 (+)Ensembl
Ensembl Acc Id: ENST00000683511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,406 - 58,106,354 (+)Ensembl
Ensembl Acc Id: ENST00000683925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,144,398 - 58,150,477 (+)Ensembl
Ensembl Acc Id: ENST00000684107   ⟹   ENSP00000507440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,119,487 (+)Ensembl
Ensembl Acc Id: ENST00000684439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,141,158 - 58,172,243 (+)Ensembl
Ensembl Acc Id: ENST00000684506   ⟹   ENSP00000507728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,172,243 (+)Ensembl
Ensembl Acc Id: ENST00000684517   ⟹   ENSP00000507828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,111,467 (+)Ensembl
Ensembl Acc Id: ENST00000684607   ⟹   ENSP00000508224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,172,243 (+)Ensembl
RefSeq Acc Id: NM_001164317   ⟹   NP_001157789
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,008,422 - 58,172,251 (+)NCBI
GRCh37357,994,127 - 58,157,982 (+)NCBI
HuRef358,091,507 - 58,255,398 (+)ENTREZGENE
CHM1_1357,944,271 - 58,108,169 (+)NCBI
T2T-CHM13v2.0358,048,835 - 58,212,708 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164318   ⟹   NP_001157790
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,008,422 - 58,172,251 (+)NCBI
GRCh37357,994,127 - 58,157,982 (+)NCBI
HuRef358,091,507 - 58,255,398 (+)ENTREZGENE
CHM1_1357,944,271 - 58,108,169 (+)NCBI
T2T-CHM13v2.0358,048,835 - 58,212,708 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164319   ⟹   NP_001157791
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,008,422 - 58,172,251 (+)NCBI
GRCh37357,994,127 - 58,157,982 (+)NCBI
HuRef358,091,507 - 58,255,398 (+)ENTREZGENE
CHM1_1357,944,271 - 58,108,169 (+)NCBI
T2T-CHM13v2.0358,048,835 - 58,212,708 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001457   ⟹   NP_001448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,008,422 - 58,172,251 (+)NCBI
GRCh37357,994,127 - 58,157,982 (+)ENTREZGENE
GRCh37357,994,127 - 58,157,982 (+)NCBI
Build 36357,969,167 - 58,133,018 (+)NCBI Archive
HuRef358,091,507 - 58,255,398 (+)ENTREZGENE
CHM1_1357,944,271 - 58,108,169 (+)NCBI
T2T-CHM13v2.0358,048,835 - 58,212,708 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001157789 (Get FASTA)   NCBI Sequence Viewer  
  NP_001157790 (Get FASTA)   NCBI Sequence Viewer  
  NP_001157791 (Get FASTA)   NCBI Sequence Viewer  
  NP_001448 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35505 (Get FASTA)   NCBI Sequence Viewer  
  AAC33845 (Get FASTA)   NCBI Sequence Viewer  
  AAC39842 (Get FASTA)   NCBI Sequence Viewer  
  AAF72339 (Get FASTA)   NCBI Sequence Viewer  
  AAF97046 (Get FASTA)   NCBI Sequence Viewer  
  AAL68439 (Get FASTA)   NCBI Sequence Viewer  
  AAL68440 (Get FASTA)   NCBI Sequence Viewer  
  AAL68441 (Get FASTA)   NCBI Sequence Viewer  
  AAL68442 (Get FASTA)   NCBI Sequence Viewer  
  AAL68443 (Get FASTA)   NCBI Sequence Viewer  
  BAD52434 (Get FASTA)   NCBI Sequence Viewer  
  BAD93126 (Get FASTA)   NCBI Sequence Viewer  
  BAG48309 (Get FASTA)   NCBI Sequence Viewer  
  BAG48310 (Get FASTA)   NCBI Sequence Viewer  
  BAG48311 (Get FASTA)   NCBI Sequence Viewer  
  CAB70818 (Get FASTA)   NCBI Sequence Viewer  
  CAE46040 (Get FASTA)   NCBI Sequence Viewer  
  CAH18654 (Get FASTA)   NCBI Sequence Viewer  
  EAW65352 (Get FASTA)   NCBI Sequence Viewer  
  EAW65353 (Get FASTA)   NCBI Sequence Viewer  
  EAW65354 (Get FASTA)   NCBI Sequence Viewer  
  EAW65355 (Get FASTA)   NCBI Sequence Viewer  
  EAW65356 (Get FASTA)   NCBI Sequence Viewer  
  EAW65357 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000295956
  ENSP00000295956.5
  ENSP00000351339
  ENSP00000351339.3
  ENSP00000415599
  ENSP00000415599.2
  ENSP00000418510.1
  ENSP00000419954.1
  ENSP00000420199.1
  ENSP00000420213
  ENSP00000420213.1
  ENSP00000507440.1
  ENSP00000507728.1
  ENSP00000507805.1
  ENSP00000507828.1
  ENSP00000508183.1
  ENSP00000508224.1
GenBank Protein O75369 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001157789   ⟸   NM_001164317
- Peptide Label: isoform 1
- UniProtKB: A0A804HK76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001448   ⟸   NM_001457
- Peptide Label: isoform 2
- UniProtKB: Q9NT26 (UniProtKB/Swiss-Prot),   Q9NRB5 (UniProtKB/Swiss-Prot),   Q8WXT3 (UniProtKB/Swiss-Prot),   Q8WXT2 (UniProtKB/Swiss-Prot),   Q8WXT1 (UniProtKB/Swiss-Prot),   Q8WXT0 (UniProtKB/Swiss-Prot),   Q8WXS9 (UniProtKB/Swiss-Prot),   Q6MZJ1 (UniProtKB/Swiss-Prot),   Q60FE7 (UniProtKB/Swiss-Prot),   Q59EC2 (UniProtKB/Swiss-Prot),   Q13706 (UniProtKB/Swiss-Prot),   C9JMC4 (UniProtKB/Swiss-Prot),   C9JKE6 (UniProtKB/Swiss-Prot),   B2ZZ85 (UniProtKB/Swiss-Prot),   B2ZZ84 (UniProtKB/Swiss-Prot),   B2ZZ83 (UniProtKB/Swiss-Prot),   Q9UEV9 (UniProtKB/Swiss-Prot),   O75369 (UniProtKB/Swiss-Prot),   A0A804HK76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001157790   ⟸   NM_001164318
- Peptide Label: isoform 3
- UniProtKB: A0A804HK76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001157791   ⟸   NM_001164319
- Peptide Label: isoform 4
- UniProtKB: A0A804HK76 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000420213   ⟸   ENST00000490882
Ensembl Acc Id: ENSP00000420199   ⟸   ENST00000466455
Ensembl Acc Id: ENSP00000295956   ⟸   ENST00000295956
Ensembl Acc Id: ENSP00000418510   ⟸   ENST00000493452
Ensembl Acc Id: ENSP00000415599   ⟸   ENST00000429972
Ensembl Acc Id: ENSP00000414532   ⟸   ENST00000419752
Ensembl Acc Id: ENSP00000419954   ⟸   ENST00000470231
Ensembl Acc Id: ENSP00000351339   ⟸   ENST00000358537
Ensembl Acc Id: ENSP00000508183   ⟸   ENST00000682097
Ensembl Acc Id: ENSP00000508224   ⟸   ENST00000684607
Ensembl Acc Id: ENSP00000507728   ⟸   ENST00000684506
Ensembl Acc Id: ENSP00000507828   ⟸   ENST00000684517
Ensembl Acc Id: ENSP00000507440   ⟸   ENST00000684107
Ensembl Acc Id: ENSP00000507805   ⟸   ENST00000682871
Protein Domains
Calponin-homology (CH)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75369-F1-model_v2 AlphaFold O75369 1-2602 view protein structure

Promoters
RGD ID:6800927
Promoter ID:HG_KWN:45373
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000348383,   ENST00000357272,   NM_001164317,   NM_001164318,   NM_001164319,   NM_001457
Position:
Human AssemblyChrPosition (strand)Source
Build 36357,968,976 - 57,969,587 (+)MPROMDB
RGD ID:6864806
Promoter ID:EPDNEW_H5568
Type:initiation region
Name:FLNB_1
Description:filamin B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,008,422 - 58,008,482EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3755 AgrOrtholog
COSMIC FLNB COSMIC
Ensembl Genes ENSG00000136068 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295956 ENTREZGENE
  ENST00000295956.9 UniProtKB/Swiss-Prot
  ENST00000358537 ENTREZGENE
  ENST00000358537.7 UniProtKB/Swiss-Prot
  ENST00000429972 ENTREZGENE
  ENST00000429972.6 UniProtKB/Swiss-Prot
  ENST00000466455.1 UniProtKB/TrEMBL
  ENST00000470231.1 UniProtKB/TrEMBL
  ENST00000490882 ENTREZGENE
  ENST00000490882.5 UniProtKB/Swiss-Prot
  ENST00000493452.5 UniProtKB/TrEMBL
  ENST00000682097.1 UniProtKB/TrEMBL
  ENST00000682871.1 UniProtKB/TrEMBL
  ENST00000684107.1 UniProtKB/TrEMBL
  ENST00000684506.1 UniProtKB/TrEMBL
  ENST00000684517.1 UniProtKB/TrEMBL
  ENST00000684607.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136068 GTEx
HGNC ID HGNC:3755 ENTREZGENE
Human Proteome Map FLNB Human Proteome Map
InterPro Actinin_actin-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filamin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filamin/ABP280_repeat-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filamin/ABP280_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2317 UniProtKB/Swiss-Prot
NCBI Gene 2317 ENTREZGENE
OMIM 603381 OMIM
PANTHER JITTERBUG, ISOFORM N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR38537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR38537:SF7 UniProtKB/TrEMBL
Pfam Filamin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28173 PharmGKB
PROSITE ACTININ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACTININ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FILAMIN_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IG_FLMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGA1_HUMAN UniProtKB/TrEMBL
  A0A804HJC2_HUMAN UniProtKB/TrEMBL
  A0A804HK76 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HL72_HUMAN UniProtKB/TrEMBL
  B2ZZ83 ENTREZGENE
  B2ZZ84 ENTREZGENE
  B2ZZ85 ENTREZGENE
  C9JKE6 ENTREZGENE
  C9JMC4 ENTREZGENE
  E7EN95_HUMAN UniProtKB/TrEMBL
  FLNB_HUMAN UniProtKB/Swiss-Prot
  H7C5L4_HUMAN UniProtKB/TrEMBL
  O75369 ENTREZGENE
  Q13706 ENTREZGENE
  Q59EC2 ENTREZGENE
  Q60FE7 ENTREZGENE
  Q6MZJ1 ENTREZGENE
  Q8WXS9 ENTREZGENE
  Q8WXT0 ENTREZGENE
  Q8WXT1 ENTREZGENE
  Q8WXT2 ENTREZGENE
  Q8WXT3 ENTREZGENE
  Q9NRB5 ENTREZGENE
  Q9NT26 ENTREZGENE
  Q9UEV9 ENTREZGENE
UniProt Secondary B2ZZ83 UniProtKB/Swiss-Prot
  B2ZZ84 UniProtKB/Swiss-Prot
  B2ZZ85 UniProtKB/Swiss-Prot
  C9JKE6 UniProtKB/Swiss-Prot
  C9JMC4 UniProtKB/Swiss-Prot
  Q13706 UniProtKB/Swiss-Prot
  Q59EC2 UniProtKB/Swiss-Prot
  Q60FE7 UniProtKB/Swiss-Prot
  Q6MZJ1 UniProtKB/Swiss-Prot
  Q8WXS9 UniProtKB/Swiss-Prot
  Q8WXT0 UniProtKB/Swiss-Prot
  Q8WXT1 UniProtKB/Swiss-Prot
  Q8WXT2 UniProtKB/Swiss-Prot
  Q8WXT3 UniProtKB/Swiss-Prot
  Q9NRB5 UniProtKB/Swiss-Prot
  Q9NT26 UniProtKB/Swiss-Prot
  Q9UEV9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-30 FLNB  filamin B  LRS1  Larsen syndrome 1 (autosomal dominant)  Data merged from RGD:1342647 737654 PROVISIONAL
2016-01-05 FLNB  filamin B    filamin B, beta  Symbol and/or name change 5135510 APPROVED