FLNB (filamin B) - Rat Genome Database

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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 Genes
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)
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  (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)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (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)
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)
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: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: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:34491919   PMID:34537242   PMID:34645483   PMID:34709266   PMID:34728620   PMID:35013218   PMID:35032548   PMID:35256949   PMID:35271311   PMID:35439318  
PMID:35446349   PMID:35474131   PMID:35509820   PMID:35563538   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:37220855   PMID:37774976   PMID:37827155   PMID:38113892   PMID:38316082   PMID:38412044  


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
1993 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] 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 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 Disorders [RCV000032211] 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 Disorders [RCV000032212]|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 condition [RCV003419907]|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 condition [RCV003927632]|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 condition [RCV003955059]|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 condition [RCV003947517]|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 condition [RCV003975262]|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 condition [RCV003907616]|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 condition [RCV003950221]|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 condition [RCV003411693]|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]|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]|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 condition [RCV003912461]|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|uncertain significance
NM_001457.4(FLNB):c.*581C>T single nucleotide variant FLNB-Related Spectrum Disorders [RCV000315734] 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]|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 condition [RCV003418069]|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 condition [RCV003932402]|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 condition [RCV003932403]|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] 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] 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]|not provided [RCV002523452] Chr3:58138462 [GRCh38]
Chr3:58124189 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_001457.4(FLNB):c.7534G>A (p.Ala2512Thr) single nucleotide variant FLNB-Related Spectrum Disorders [RCV000362857]|not provided [RCV001753815] Chr3:58169706 [GRCh38]
Chr3:58155433 [GRCh37]
Chr3:3p14.3		 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 condition [RCV003922520]|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 condition [RCV003902333]|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] 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.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 condition [RCV003969998]|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 condition [RCV003912462]|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 condition [RCV003950220]|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 condition [RCV003932404]|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 condition [RCV003939949]|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 condition [RCV003909976]|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 condition [RCV003957492]|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 condition [RCV003940062]|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 condition [RCV003947877]|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 condition [RCV003967700]|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 condition [RCV003392431]|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 condition [RCV003908016]|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 condition [RCV003912723]|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 condition [RCV003912730]|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]|not provided [RCV000443161] Chr3:58105148 [GRCh38]
Chr3:58090875 [GRCh37]
Chr3:3p14.3		 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 not provided [RCV000425923] Chr3:58126606 [GRCh38]
Chr3:58112333 [GRCh37]
Chr3:3p14.3		 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 condition [RCV003922816]|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 condition [RCV003418125]|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 condition [RCV003922785]|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]|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 condition [RCV003925403]|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 condition [RCV003942662]|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 condition [RCV003927965]|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 condition [RCV003953014]|not provided [RCV000897835] Chr3:58008838 [GRCh38]
Chr3:57994565 [GRCh37]
Chr3:3p14.3		 benign|likely benign
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 condition [RCV003962760]|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 condition [RCV003945394]|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 condition [RCV003945540]|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]|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|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 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 condition [RCV003928745]|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] 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 condition [RCV003930845]|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 condition [RCV003930562]|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 condition [RCV003910675]|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.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|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 condition [RCV003928304]|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]
Chr3:58131515 [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 condition [RCV003938512]|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]|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]|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]|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.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.1327G>C (p.Val443Leu) single nucleotide variant FLNB-Related Spectrum Disorders [RCV001143917]|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] 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 condition [RCV003928750]|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]|not provided [RCV002069279] Chr3:58149922 [GRCh38]
Chr3:58135649 [GRCh37]
Chr3:3p14.3		 likely benign|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.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.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 condition [RCV003975636]|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 condition [RCV003953353]|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 condition [RCV003923126]|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] 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 condition [RCV003928742]|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]
Chr3:58095466 [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 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.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 condition [RCV003399069]|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 condition [RCV003405519]|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 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]
Chr3:58095500 [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.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
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 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.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]|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 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 condition [RCV003416425]|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		 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|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 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|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 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 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 condition [RCV003407898]|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 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 not provided [RCV001934836] Chr3:58123695 [GRCh38]
Chr3:58109422 [GRCh37]
Chr3:3p14.3		 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 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 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 condition [RCV003434342]|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 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 not provided [RCV003110307] Chr3:58126762 [GRCh38]
Chr3:58112489 [GRCh37]
Chr3:3p14.3		 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.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.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 not provided [RCV002618154] Chr3:58150198 [GRCh38]
Chr3:58135925 [GRCh37]
Chr3:3p14.3		 likely benign
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 condition [RCV003973650]|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]
Chr3:58135927 [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 condition [RCV003963612]|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 condition [RCV003420441]|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 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 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
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 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 condition [RCV003973441]|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 condition [RCV003418583]|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.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 condition [RCV003916479]|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] Chr3:58123477 [GRCh38]
Chr3:58109204 [GRCh37]
Chr3:3p14.3		 likely benign
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 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 condition [RCV003418620]|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 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 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.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.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 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 not provided [RCV002588436] Chr3:58124386 [GRCh38]
Chr3:58110113 [GRCh37]
Chr3:3p14.3		 benign
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
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.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.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.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 not provided [RCV003571680] Chr3:58154901 [GRCh38]
Chr3:58140628 [GRCh37]
Chr3:3p14.3		 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 condition [RCV003909200]|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 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 condition [RCV003901065]|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 condition [RCV003980922]|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 condition [RCV003400265] 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 condition [RCV003402200] 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 condition [RCV003408559]|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 condition [RCV003404656] Chr3:58118881 [GRCh38]
Chr3:58104608 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.5554+1G>A single nucleotide variant FLNB-related condition [RCV003416664] 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 condition [RCV003946597]|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 condition [RCV003404361] 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 condition [RCV003399627] 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 condition [RCV003420838] 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 condition [RCV003402851]|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 condition [RCV003404443] 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 not provided [RCV003666076] Chr3:58121269 [GRCh38]
Chr3:58106996 [GRCh37]
Chr3:3p14.3		 likely benign
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 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] 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 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.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
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 condition [RCV003901286]|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] 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 condition [RCV003981087]|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 condition [RCV003956540]|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 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 not provided [RCV003860153] Chr3:58154812 [GRCh38]
Chr3:58140539 [GRCh37]
Chr3:3p14.3		 likely benign
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 condition [RCV003941922] Chr3:58123699 [GRCh38]
Chr3:58109426 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.4515-24GT[9] microsatellite FLNB-related condition [RCV003951360] 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 condition [RCV003946890] 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 condition [RCV003982789] Chr3:58148695 [GRCh38]
Chr3:58134422 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001457.4(FLNB):c.1275T>A (p.Pro425=) single nucleotide variant FLNB-related condition [RCV003959219] 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 condition [RCV003897076] 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.7021+10A>C single nucleotide variant FLNB-related condition [RCV003951381] 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 condition [RCV003901889] Chr3:58130883 [GRCh38]
Chr3:58116610 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001457.4(FLNB):c.6768G>A (p.Glu2256=) single nucleotide variant FLNB-related condition [RCV003967300] Chr3:58154924 [GRCh38]
Chr3:58140651 [GRCh37]
Chr3:3p14.3		 likely benign
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
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.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.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.4391-825T>C single nucleotide variant FLNB-related condition [RCV003962979]|not provided [RCV000998093] Chr3:58131983 [GRCh38]
Chr3:58117710 [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.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.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.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
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.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.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.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.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.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.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.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.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.5507C>A (p.Ala1836Asp) single nucleotide variant not provided [RCV003871820] Chr3:58146002 [GRCh38]
Chr3:58131729 [GRCh37]
Chr3:3p14.3		 uncertain significance
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.

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
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2439 1820 1696 599 1096 440 3607 1204 2749 407 1459 1608 175 1 1204 2045 6 2
Low 1150 30 25 832 25 750 993 985 12 1 4 743
Below cutoff 21 23 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

Reference Sequences
RefSeq Acc Id: ENST00000295956   ⟹   ENSP00000295956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,172,251 (+)Ensembl
RefSeq Acc Id: ENST00000358537   ⟹   ENSP00000351339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,400 - 58,172,251 (+)Ensembl
RefSeq Acc Id: ENST00000419752   ⟹   ENSP00000414532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,164,573 - 58,172,243 (+)Ensembl
RefSeq Acc Id: ENST00000429972   ⟹   ENSP00000415599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,400 - 58,172,251 (+)Ensembl
RefSeq Acc Id: ENST00000466455   ⟹   ENSP00000420199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,149,866 - 58,153,641 (+)Ensembl
RefSeq Acc Id: ENST00000468939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,154,610 - 58,159,691 (+)Ensembl
RefSeq Acc Id: ENST00000470231   ⟹   ENSP00000419954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,149,981 - 58,153,397 (+)Ensembl
RefSeq Acc Id: ENST00000475487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,156,027 - 58,163,512 (+)Ensembl
RefSeq Acc Id: ENST00000477629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,149,232 - 58,151,391 (+)Ensembl
RefSeq Acc Id: ENST00000481470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,132,078 - 58,172,251 (+)Ensembl
RefSeq Acc Id: ENST00000484981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,165,476 - 58,170,978 (+)Ensembl
RefSeq Acc Id: ENST00000490882   ⟹   ENSP00000420213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,400 - 58,170,774 (+)Ensembl
RefSeq Acc Id: ENST00000491408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,146,678 - 58,148,364 (+)Ensembl
RefSeq Acc Id: ENST00000493452   ⟹   ENSP00000418510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,078,329 - 58,170,777 (+)Ensembl
RefSeq Acc Id: ENST00000682097   ⟹   ENSP00000508183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,398 - 58,108,103 (+)Ensembl
RefSeq Acc Id: ENST00000682297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,132,837 - 58,172,243 (+)Ensembl
RefSeq Acc Id: ENST00000682503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,152,808 - 58,172,243 (+)Ensembl
RefSeq Acc Id: ENST00000682868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,141,013 (+)Ensembl
RefSeq Acc Id: ENST00000682871   ⟹   ENSP00000507805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,172,243 (+)Ensembl
RefSeq Acc Id: ENST00000682987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,105,853 (+)Ensembl
RefSeq Acc Id: ENST00000683114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,149,088 - 58,172,243 (+)Ensembl
RefSeq Acc Id: ENST00000683511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,406 - 58,106,354 (+)Ensembl
RefSeq Acc Id: ENST00000683925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,144,398 - 58,150,477 (+)Ensembl
RefSeq Acc Id: ENST00000684107   ⟹   ENSP00000507440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,119,487 (+)Ensembl
RefSeq Acc Id: ENST00000684439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,141,158 - 58,172,243 (+)Ensembl
RefSeq Acc Id: ENST00000684506   ⟹   ENSP00000507728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,172,243 (+)Ensembl
RefSeq Acc Id: ENST00000684517   ⟹   ENSP00000507828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,008,422 - 58,111,467 (+)Ensembl
RefSeq 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  
Reference Protein Sequences
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:
RefSeq Acc Id: ENSP00000420213   ⟸   ENST00000490882
RefSeq Acc Id: ENSP00000420199   ⟸   ENST00000466455
RefSeq Acc Id: ENSP00000295956   ⟸   ENST00000295956
RefSeq Acc Id: ENSP00000418510   ⟸   ENST00000493452
RefSeq Acc Id: ENSP00000415599   ⟸   ENST00000429972
RefSeq Acc Id: ENSP00000414532   ⟸   ENST00000419752
RefSeq Acc Id: ENSP00000419954   ⟸   ENST00000470231
RefSeq Acc Id: ENSP00000351339   ⟸   ENST00000358537
RefSeq Acc Id: ENSP00000508183   ⟸   ENST00000682097
RefSeq Acc Id: ENSP00000508224   ⟸   ENST00000684607
RefSeq Acc Id: ENSP00000507728   ⟸   ENST00000684506
RefSeq Acc Id: ENSP00000507828   ⟸   ENST00000684517
RefSeq Acc Id: ENSP00000507440   ⟸   ENST00000684107
RefSeq 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