FANCB (FA complementation group B) - Rat Genome Database

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Gene: FANCB (FA complementation group B) Homo sapiens
Analyze
Symbol: FANCB
Name: FA complementation group B
RGD ID: 1351449
HGNC Page HGNC
Description: Predicted to be involved in several processes, including cellular response to camptothecin; regulation of double-strand break repair via homologous recombination; and replication-born double-strand break repair via sister chromatid exchange. Localizes to Fanconi anaemia nuclear complex. Implicated in Fanconi anemia complementation group B and head and neck squamous cell carcinoma. Biomarker of tongue squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FA2; FAAP90; FAAP95; FAB; FACB; Fanconi anemia complementation group B; Fanconi anemia group B protein; Fanconi anemia, complementation group B; fanconi anemia-associated polypeptide of 95 kDa; type 2 Fanconi pancytopenia
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
GRCh38.p13 EnsemblX14,835,961 - 14,873,069 (-)EnsemblGRCh38hg38GRCh38
GRCh38X14,690,863 - 14,873,255 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X14,861,527 - 14,891,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X14,771,450 - 14,801,105 (-)NCBINCBI36hg18NCBI36
Build 34X14,621,185 - 14,650,848NCBI
CeleraX18,976,913 - 19,006,568 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX12,620,535 - 12,649,320 (-)NCBIHuRef
CHM1_1X14,891,941 - 14,921,601 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal fallopian tube morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of femur morphology  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the optic nerve  (IAGP)
Abnormality of the preputium  (IAGP)
Abnormality of the vertebral column  (IAGP)
Absence of the sacrum  (IAGP)
Absent radius  (IAGP)
Absent testis  (IAGP)
Absent thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Anophthalmia  (IAGP)
Anotia  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Aplastic anemia  (IAGP)
Aqueductal stenosis  (IAGP)
Arrhinencephaly  (IAGP)
Arteriovenous malformation  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Bilateral radial aplasia  (IAGP)
Breast carcinoma  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Childhood onset  (IAGP)
Choanal atresia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Coarctation of aorta  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Decreased fertility in males  (IAGP)
Delayed CNS myelination  (IAGP)
Dolichocephaly  (IAGP)
Duodenal atresia  (IAGP)
Duodenal stenosis  (IAGP)
Enlarged kidney  (IAGP)
Epicanthus  (IAGP)
Esophageal atresia  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Femoral hernia  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Hearing impairment  (IAGP)
Hemivertebrae  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Isomerism  (IAGP)
Leukopenia  (IAGP)
Low-set ears  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Microtia, third degree  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Optic disc hypoplasia  (IAGP)
Overfolded helix  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Polyhydramnios  (IAGP)
Proptosis  (IAGP)
Proximal placement of thumb  (IAGP)
Ptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Retrognathia  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Short humerus  (IAGP)
Short neck  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Single umbilical artery  (IAGP)
Sloping forehead  (IAGP)
Spina bifida  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Transposition of the great arteries  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urethral atresia  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:8609606   PMID:9382107   PMID:9480775   PMID:11307801   PMID:11601848   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15502827   PMID:15611632   PMID:16116422  
PMID:16679491   PMID:16720839   PMID:17289582   PMID:17396147   PMID:17903171   PMID:18302019   PMID:19536649   PMID:20301575   PMID:20301753   PMID:20347428   PMID:20347429   PMID:20360068  
PMID:20465790   PMID:21873635   PMID:21910217   PMID:21948523   PMID:22343915   PMID:22705371   PMID:26186194   PMID:26496610   PMID:27173435   PMID:27986371   PMID:28514442   PMID:29193904  
PMID:29491055   PMID:29507755   PMID:29656893   PMID:31180492  


Genomics

Comparative Map Data
FANCB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX14,835,961 - 14,873,069 (-)EnsemblGRCh38hg38GRCh38
GRCh38X14,690,863 - 14,873,255 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X14,861,527 - 14,891,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X14,771,450 - 14,801,105 (-)NCBINCBI36hg18NCBI36
Build 34X14,621,185 - 14,650,848NCBI
CeleraX18,976,913 - 19,006,568 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX12,620,535 - 12,649,320 (-)NCBIHuRef
CHM1_1X14,891,941 - 14,921,601 (-)NCBICHM1_1
Fancb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X163,763,459 - 163,780,268 (+)NCBIGRCm39mm39
GRCm39 EnsemblX163,763,588 - 163,780,268 (+)Ensembl
GRCm38X164,980,480 - 164,997,272 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX164,980,592 - 164,997,272 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X161,418,524 - 161,435,204 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X160,324,818 - 160,341,377 (+)NCBImm8
CeleraX148,182,688 - 148,199,367 (+)NCBICelera
Cytogenetic MapXF5NCBI
Fancb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X29,403,771 - 29,420,484 (-)NCBI
Rnor_6.0 EnsemblX31,124,018 - 31,140,711 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X31,124,018 - 31,140,790 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X31,503,522 - 31,520,366 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X50,143,416 - 50,157,928 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX29,762,123 - 29,776,635 (-)NCBICelera
Cytogenetic MapXq14NCBI
Fancb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555193,343,446 - 3,363,814 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555193,337,138 - 3,364,963 (+)NCBIChiLan1.0ChiLan1.0
FANCB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X14,752,929 - 14,785,847 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX14,752,934 - 14,781,817 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X7,470,574 - 7,500,958 (-)NCBIMhudiblu_PPA_v0panPan3
FANCB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X10,690,826 - 11,140,838 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX11,095,200 - 11,141,029 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX10,590,126 - 11,048,772 (-)NCBI
ROS_Cfam_1.0X10,643,010 - 11,103,126 (-)NCBI
UMICH_Zoey_3.1X10,707,452 - 11,166,364 (-)NCBI
UNSW_CanFamBas_1.0X10,698,894 - 11,157,725 (-)NCBI
UU_Cfam_GSD_1.0X10,725,702 - 11,185,302 (-)NCBI
Fancb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X4,301,397 - 4,330,134 (-)NCBI
SpeTri2.0NW_0049364704,305,220 - 4,323,456 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FANCB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX10,960,996 - 11,409,057 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X11,386,360 - 11,408,958 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X12,270,926 - 12,362,359 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FANCB
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X13,321,304 - 13,352,368 (-)NCBI
ChlSab1.1 EnsemblX13,321,527 - 13,342,478 (-)Ensembl
Fancb
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624944358,836 - 383,161 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:520
Count of miRNA genes:367
Interacting mature miRNAs:379
Transcripts:ENST00000324138, ENST00000398334, ENST00000452869, ENST00000489126
Prediction methods:Microtar, Miranda, Pita, 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.


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 33 11 9 138 10 111 16 53 12 65 89 5
Low 653 544 304 143 1030 94 1903 175 1200 141 950 679 57 1 533 1056 5 2
Below cutoff 1750 2395 1350 420 769 309 2293 1939 2456 245 440 840 113 670 1684

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001018113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC140846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC055411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP236844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA433787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U70984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324138   ⟹   ENSP00000326819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,843,407 - 14,873,069 (-)Ensembl
RefSeq Acc Id: ENST00000398334   ⟹   ENSP00000381378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,843,407 - 14,873,062 (-)Ensembl
RefSeq Acc Id: ENST00000452869   ⟹   ENSP00000397849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,843,693 - 14,873,052 (-)Ensembl
RefSeq Acc Id: ENST00000489126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,865,343 - 14,869,243 (-)Ensembl
RefSeq Acc Id: ENST00000643728   ⟹   ENSP00000495047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,835,961 - 14,869,029 (-)Ensembl
RefSeq Acc Id: ENST00000646255   ⟹   ENSP00000494963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,843,405 - 14,869,004 (-)Ensembl
RefSeq Acc Id: ENST00000650831   ⟹   ENSP00000498215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,843,405 - 14,873,069 (-)Ensembl
RefSeq Acc Id: NM_001018113   ⟹   NP_001018123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,843,405 - 14,873,069 (-)NCBI
GRCh37X14,861,529 - 14,891,184 (-)ENTREZGENE
Build 36X14,771,450 - 14,801,105 (-)NCBI Archive
HuRefX12,620,535 - 12,649,320 (-)ENTREZGENE
CHM1_1X14,891,941 - 14,921,601 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324162   ⟹   NP_001311091
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,843,405 - 14,873,069 (-)NCBI
CHM1_1X14,891,941 - 14,921,601 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152633   ⟹   NP_689846
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,843,405 - 14,873,069 (-)NCBI
GRCh37X14,861,529 - 14,891,184 (-)ENTREZGENE
Build 36X14,771,450 - 14,801,105 (-)NCBI Archive
HuRefX12,620,535 - 12,649,320 (-)ENTREZGENE
CHM1_1X14,891,941 - 14,921,601 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136707
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,865,193 - 14,873,069 (-)NCBI
CHM1_1X14,913,726 - 14,921,601 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545470   ⟹   XP_011543772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,795,046 - 14,873,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029355   ⟹   XP_016884844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,841,878 - 14,873,238 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029356   ⟹   XP_016884845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,834,161 - 14,873,255 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755672
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,690,863 - 14,873,255 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755673
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,690,863 - 14,869,105 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755674
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,690,863 - 14,873,069 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689846   ⟸   NM_152633
- UniProtKB: Q8NB91 (UniProtKB/Swiss-Prot),   A0A024RBW1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001018123   ⟸   NM_001018113
- UniProtKB: Q8NB91 (UniProtKB/Swiss-Prot),   A0A024RBW1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543772   ⟸   XM_011545470
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001311091   ⟸   NM_001324162
- UniProtKB: Q8NB91 (UniProtKB/Swiss-Prot),   A0A024RBW1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884845   ⟸   XM_017029356
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016884844   ⟸   XM_017029355
- Peptide Label: isoform X2
- UniProtKB: Q8NB91 (UniProtKB/Swiss-Prot),   A0A024RBW1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000381378   ⟸   ENST00000398334
RefSeq Acc Id: ENSP00000397849   ⟸   ENST00000452869
RefSeq Acc Id: ENSP00000498215   ⟸   ENST00000650831
RefSeq Acc Id: ENSP00000326819   ⟸   ENST00000324138
RefSeq Acc Id: ENSP00000495047   ⟸   ENST00000643728
RefSeq Acc Id: ENSP00000494963   ⟸   ENST00000646255

Promoters
RGD ID:6808841
Promoter ID:HG_KWN:66057
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:NM_001018113,   OTTHUMT00000055835,   OTTHUMT00000055837,   OTTHUMT00000055839,   OTTHUMT00000055840,   OTTHUMT00000055841
Position:
Human AssemblyChrPosition (strand)Source
Build 36X14,801,021 - 14,801,707 (-)MPROMDB
RGD ID:13604778
Promoter ID:EPDNEW_H28573
Type:initiation region
Name:FANCB_1
Description:Fanconi anemia complementation group 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
GRCh38X14,873,059 - 14,873,119EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe) single nucleotide variant Fanconi anemia [RCV000547293] ChrX:14864795 [GRCh38]
ChrX:14882917 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.897C>T (p.Phe299=) single nucleotide variant Fanconi anemia [RCV000560050] ChrX:14864614 [GRCh38]
ChrX:14882736 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) single nucleotide variant Fanconi anemia, complementation group B [RCV000030703] ChrX:14844518 [GRCh38]
ChrX:14862640 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.1855_1856AG[1] (p.Arg619fs) microsatellite Fanconi anemia, complementation group B [RCV000030704] ChrX:14844925..14844926 [GRCh38]
ChrX:14863047..14863048 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) single nucleotide variant Fanconi anemia [RCV000548316] ChrX:14859207 [GRCh38]
ChrX:14877329 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.741C>A (p.Ile247=) single nucleotide variant Fanconi anemia [RCV000552940] ChrX:14864770 [GRCh38]
ChrX:14882892 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.2165+10A>T single nucleotide variant Fanconi anemia [RCV000554739] ChrX:14844493 [GRCh38]
ChrX:14862615 [GRCh37]
ChrX:Xp22.2
benign
FANCB, 1-BP INS, 1838T insertion Fanconi anemia, complementation group B [RCV000011613] ChrX:Xp22.31 pathogenic
FANCB, 3314-BP DEL deletion Fanconi anemia, complementation group B [RCV000011614] ChrX:Xp22.31 pathogenic
FANCB, 1-BP DEL, 1650T deletion Fanconi anemia, complementation group B [RCV000011615] ChrX:Xp22.31 pathogenic
FANCB, 1-BP INS, 811T insertion Fanconi anemia, complementation group B [RCV000011616] ChrX:Xp22.31 pathogenic
NM_001018113.3(FANCB):c.1496+5G>A single nucleotide variant Fanconi anemia, complementation group B [RCV000011617] ChrX:14850500 [GRCh38]
ChrX:14868622 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu) single nucleotide variant Fanconi anemia [RCV000545120] ChrX:14864627 [GRCh38]
ChrX:14882749 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001018113.1(FANCB):c.1105-3_1105-2insTATT insertion AllHighlyPenetrant [RCV000079363]|not specified [RCV000079363] ChrX:14857956..14857957 [GRCh38]
ChrX:14876078..14876079 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.1327-10T>C single nucleotide variant Fanconi anemia [RCV000860237]|Fanconi anemia, complementation group B [RCV000348663]|Hypothyroidism, central, and testicular enlargement [RCV000851560]|VACTERL association, X-linked, with or without hydrocephalus [RCV000394031]|not specified [RCV000079364] ChrX:14850684 [GRCh38]
ChrX:14868806 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.1327-3del deletion Fanconi Anemia, X-Linked [RCV000293716]|Fanconi anemia [RCV000471169]|History of neurodevelopmental disorder [RCV000720935]|VACTERL association with hydrocephalus [RCV000388053]|not specified [RCV000079365] ChrX:14850677 [GRCh38]
ChrX:14868799 [GRCh37]
ChrX:Xp22.2
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001018113.3(FANCB):c.1105-26TATT[7] microsatellite Fanconi anemia [RCV000200154]|not specified [RCV000153229] ChrX:14857956..14857957 [GRCh38]
ChrX:14876078..14876079 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.2(chrX:14739585-15125185)x2 copy number gain See cases [RCV000134760] ChrX:14739585..15125185 [GRCh38]
ChrX:14757707..15143307 [GRCh37]
ChrX:14667628..15053228 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) single nucleotide variant Fanconi anemia [RCV001085637]|not provided [RCV000178139] ChrX:14859297 [GRCh38]
ChrX:14877419 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) single nucleotide variant Fanconi anemia [RCV000865306]|Fanconi anemia, complementation group B [RCV001167816]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167815]|not specified [RCV000178817] ChrX:14857919 [GRCh38]
ChrX:14876041 [GRCh37]
ChrX:Xp22.2
benign|likely benign|uncertain significance
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) single nucleotide variant Fanconi anemia [RCV001083348]|Fanconi anemia, complementation group B [RCV000287960]|VACTERL association, X-linked, with or without hydrocephalus [RCV000352217]|not provided [RCV000487772] ChrX:14850630 [GRCh38]
ChrX:14868752 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=) single nucleotide variant Fanconi anemia [RCV000550142] ChrX:14845124 [GRCh38]
ChrX:14863246 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) single nucleotide variant Fanconi anemia [RCV000553960] ChrX:14865181 [GRCh38]
ChrX:14883303 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) single nucleotide variant Fanconi anemia [RCV000235236] ChrX:14865004 [GRCh38]
ChrX:14883126 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) single nucleotide variant Fanconi anemia [RCV000235722] ChrX:14865276 [GRCh38]
ChrX:14883398 [GRCh37]
ChrX:Xp22.2
likely pathogenic|uncertain significance
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) single nucleotide variant Fanconi anemia [RCV001080424]|Fanconi anemia, complementation group A [RCV000990470]|Fanconi anemia, complementation group B [RCV000292661]|History of neurodevelopmental disorder [RCV000720996]|Malignant tumor of breast [RCV001269483]|VACTERL association, X-linked, with or without hydrocephalus [RCV000375315]|not provided [RCV000437503] ChrX:14845014 [GRCh38]
ChrX:14863136 [GRCh37]
ChrX:Xp22.2
benign|likely benign|uncertain significance
NM_001018113.3(FANCB):c.388A>G (p.Met130Val) single nucleotide variant Fanconi anemia [RCV000236040] ChrX:14865123 [GRCh38]
ChrX:14883245 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) single nucleotide variant Fanconi anemia [RCV000236495]|History of neurodevelopmental disorder [RCV000721015]|not specified [RCV000503767] ChrX:14844672 [GRCh38]
ChrX:14862794 [GRCh37]
ChrX:Xp22.2
benign|likely benign|uncertain significance
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) single nucleotide variant Fanconi anemia [RCV000236537]|Fanconi anemia, complementation group B [RCV000390121]|VACTERL association, X-linked, with or without hydrocephalus [RCV000301708]|not specified [RCV000502067] ChrX:14843695 [GRCh38]
ChrX:14861817 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser) single nucleotide variant Fanconi anemia [RCV000236979] ChrX:14850659 [GRCh38]
ChrX:14868781 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) single nucleotide variant Fanconi anemia [RCV000237072] ChrX:14844578 [GRCh38]
ChrX:14862700 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) single nucleotide variant not specified [RCV000606668] ChrX:14843712 [GRCh38]
ChrX:14861834 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) single nucleotide variant Fanconi anemia [RCV000461854]|Fanconi anemia, complementation group B [RCV000365780]|History of neurodevelopmental disorder [RCV000720940]|VACTERL association, X-linked, with or without hydrocephalus [RCV000301775]|not specified [RCV000241904] ChrX:14859282 [GRCh38]
ChrX:14877404 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) single nucleotide variant Fanconi anemia, complementation group B [RCV000266661]|VACTERL association, X-linked, with or without hydrocephalus [RCV000358820] ChrX:14843736 [GRCh38]
ChrX:14861858 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.952-13C>T single nucleotide variant Fanconi anemia, complementation group B [RCV000325870]|VACTERL association, X-linked, with or without hydrocephalus [RCV000271181] ChrX:14859347 [GRCh38]
ChrX:14877469 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) single nucleotide variant Fanconi anemia, complementation group B [RCV000318403]|VACTERL association, X-linked, with or without hydrocephalus [RCV000260730] ChrX:14844966 [GRCh38]
ChrX:14863088 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.-232G>A single nucleotide variant Fanconi anemia, complementation group B [RCV000375080]|VACTERL association, X-linked, with or without hydrocephalus [RCV000261702] ChrX:14873026 [GRCh38]
ChrX:14891148 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.*14T>C single nucleotide variant Fanconi anemia, complementation group B [RCV000364423]|VACTERL association, X-linked, with or without hydrocephalus [RCV000307702] ChrX:14843553 [GRCh38]
ChrX:14861675 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) single nucleotide variant Fanconi anemia [RCV001081437]|Fanconi anemia, complementation group B [RCV000309558]|VACTERL association, X-linked, with or without hydrocephalus [RCV000398187]|not provided [RCV000762608] ChrX:14865442 [GRCh38]
ChrX:14883564 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) single nucleotide variant Fanconi anemia, complementation group B [RCV000343511]|VACTERL association, X-linked, with or without hydrocephalus [RCV000396765] ChrX:14865154 [GRCh38]
ChrX:14883276 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1105-26TATT[4] microsatellite not provided [RCV000456303]|not specified [RCV000376235] ChrX:14857957..14857964 [GRCh38]
ChrX:14876079..14876086 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.-230A>T single nucleotide variant Fanconi anemia, complementation group B [RCV000274513]|VACTERL association, X-linked, with or without hydrocephalus [RCV000329862] ChrX:14873024 [GRCh38]
ChrX:14891146 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) single nucleotide variant Fanconi anemia, complementation group B [RCV000276678]|VACTERL association, X-linked, with or without hydrocephalus [RCV000389792] ChrX:14864597 [GRCh38]
ChrX:14882719 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) single nucleotide variant Fanconi anemia [RCV000470748]|Fanconi anemia, complementation group B [RCV000373701]|History of neurodevelopmental disorder [RCV000721057]|VACTERL association, X-linked, with or without hydrocephalus [RCV000279173] ChrX:14865109 [GRCh38]
ChrX:14883231 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) single nucleotide variant Fanconi anemia, complementation group B [RCV000282653]|VACTERL association, X-linked, with or without hydrocephalus [RCV000337705] ChrX:14864729 [GRCh38]
ChrX:14882851 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) single nucleotide variant Fanconi anemia [RCV000630971]|Fanconi anemia, complementation group B [RCV000324199]|VACTERL association, X-linked, with or without hydrocephalus [RCV000353202] ChrX:14843836 [GRCh38]
ChrX:14861958 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) single nucleotide variant Fanconi anemia [RCV000524700]|Fanconi anemia, complementation group B [RCV000331306]|VACTERL association, X-linked, with or without hydrocephalus [RCV000388194]|not specified [RCV000500090] ChrX:14850507 [GRCh38]
ChrX:14868629 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) single nucleotide variant Fanconi Anemia, X-Linked [RCV000386373]|Fanconi anemia [RCV000475401]|VACTERL association with hydrocephalus [RCV000331728] ChrX:14864642 [GRCh38]
ChrX:14882764 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) single nucleotide variant Fanconi anemia [RCV001087773]|not provided [RCV000514485] ChrX:14845125 [GRCh38]
ChrX:14863247 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001018113.3(FANCB):c.*66T>G single nucleotide variant Fanconi anemia, complementation group B [RCV000294698]|VACTERL association, X-linked, with or without hydrocephalus [RCV000397206] ChrX:14843501 [GRCh38]
ChrX:14861623 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.-229T>G single nucleotide variant Fanconi anemia, complementation group B [RCV000369353]|VACTERL association, X-linked, with or without hydrocephalus [RCV000314598] ChrX:14873023 [GRCh38]
ChrX:14891145 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) single nucleotide variant Fanconi anemia, complementation group B [RCV000335633]|VACTERL association, X-linked, with or without hydrocephalus [RCV000299580]|not provided [RCV000981674] ChrX:14853055 [GRCh38]
ChrX:14871177 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) single nucleotide variant Fanconi anemia, complementation group B [RCV000265400]|VACTERL association, X-linked, with or without hydrocephalus [RCV000360054] ChrX:14859208 [GRCh38]
ChrX:14877330 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) single nucleotide variant Fanconi Anemia, X-Linked [RCV000303794]|Fanconi anemia [RCV001206366]|VACTERL association with hydrocephalus [RCV000339897] ChrX:14865161 [GRCh38]
ChrX:14883283 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.-173G>C single nucleotide variant Fanconi anemia, complementation group B [RCV000364217]|Hypothyroidism, central, and testicular enlargement [RCV000851550]|VACTERL association, X-linked, with or without hydrocephalus [RCV000268796] ChrX:14869025 [GRCh38]
ChrX:14887147 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) single nucleotide variant Fanconi anemia, complementation group B [RCV000305337]|VACTERL association, X-linked, with or without hydrocephalus [RCV000400535] ChrX:14853100 [GRCh38]
ChrX:14871222 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.*33T>C single nucleotide variant Fanconi anemia, complementation group B [RCV000397201]|VACTERL association, X-linked, with or without hydrocephalus [RCV000351888] ChrX:14843534 [GRCh38]
ChrX:14861656 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.-70-1G>C single nucleotide variant not provided [RCV000722803] ChrX:14865581 [GRCh38]
ChrX:14883703 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001018113.3(FANCB):c.2392G>A (p.Val798Ile) single nucleotide variant not provided [RCV000488385] ChrX:14843755 [GRCh38]
ChrX:14861877 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) single nucleotide variant Fanconi anemia [RCV000528416]|Fanconi anemia, complementation group B [RCV000766077] ChrX:14865312 [GRCh38]
ChrX:14883434 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) single nucleotide variant Fanconi anemia [RCV000532263] ChrX:14865459 [GRCh38]
ChrX:14883581 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) single nucleotide variant Fanconi anemia [RCV000538919] ChrX:14865481 [GRCh38]
ChrX:14883603 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:14597341-15101123)x3 copy number gain See cases [RCV000445927] ChrX:14597341..15101123 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:14878636-14942042)x0 copy number loss See cases [RCV000447785] ChrX:14878636..14942042 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) single nucleotide variant Fanconi anemia, complementation group B [RCV000766076]|not provided [RCV000462731] ChrX:14845063 [GRCh38]
ChrX:14863185 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) single nucleotide variant Fanconi anemia [RCV000463625] ChrX:14864859 [GRCh38]
ChrX:14882981 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.510T>G (p.Ile170Met) single nucleotide variant Fanconi anemia [RCV000472221] ChrX:14865001 [GRCh38]
ChrX:14883123 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu) single nucleotide variant Fanconi anemia [RCV000476157] ChrX:14844543 [GRCh38]
ChrX:14862665 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) single nucleotide variant Fanconi anemia [RCV000468906]|Fanconi anemia, complementation group B [RCV001167168]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167740] ChrX:14843670 [GRCh38]
ChrX:14861792 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.1691_1694TTGT[1] (p.Cys566fs) microsatellite not provided [RCV000485610] ChrX:14845085..14845088 [GRCh38]
ChrX:14863207..14863210 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) single nucleotide variant not specified [RCV000501227] ChrX:14864805 [GRCh38]
ChrX:14882927 [GRCh37]
ChrX:Xp22.2
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) single nucleotide variant not provided [RCV000557589]|not specified [RCV000501276] ChrX:14865384 [GRCh38]
ChrX:14883506 [GRCh37]
ChrX:Xp22.2
benign|likely benign|uncertain significance
NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys) single nucleotide variant not provided [RCV000867019]|not specified [RCV000504138] ChrX:14843919 [GRCh38]
ChrX:14862041 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_001018113.3(FANCB):c.1317T>C (p.Ser439=) single nucleotide variant not specified [RCV000502170] ChrX:14853048 [GRCh38]
ChrX:14871170 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.2109A>G (p.Thr703=) single nucleotide variant not specified [RCV000502323] ChrX:14844559 [GRCh38]
ChrX:14862681 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001018113.3(FANCB):c.1104+4A>G single nucleotide variant Fanconi anemia [RCV000630929] ChrX:14859178 [GRCh38]
ChrX:14877300 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.960T>G (p.Ala320=) single nucleotide variant Fanconi anemia [RCV000630984] ChrX:14859326 [GRCh38]
ChrX:14877448 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) single nucleotide variant Fanconi anemia, complementation group B [RCV001169618]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169617]|not provided [RCV000528766] ChrX:14843820 [GRCh38]
ChrX:14861942 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.7A>G (p.Ser3Gly) single nucleotide variant Fanconi anemia [RCV000530363] ChrX:14865504 [GRCh38]
ChrX:14883626 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) single nucleotide variant Fanconi anemia [RCV000535909] ChrX:14850652 [GRCh38]
ChrX:14868774 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu) single nucleotide variant Fanconi anemia [RCV000630916] ChrX:14845178 [GRCh38]
ChrX:14863300 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) single nucleotide variant not provided [RCV000630985] ChrX:14850608 [GRCh38]
ChrX:14868730 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) single nucleotide variant Fanconi anemia [RCV000630950] ChrX:14843727 [GRCh38]
ChrX:14861849 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2394C>T (p.Val798=) single nucleotide variant Fanconi anemia [RCV000631006] ChrX:14843753 [GRCh38]
ChrX:14861875 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) single nucleotide variant Fanconi anemia [RCV000631032]|Fanconi anemia, complementation group B [RCV001167228]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167229] ChrX:14850559 [GRCh38]
ChrX:14868681 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg) single nucleotide variant Fanconi anemia [RCV000539693] ChrX:14845242 [GRCh38]
ChrX:14863364 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu) single nucleotide variant Fanconi anemia [RCV000540004] ChrX:14844570 [GRCh38]
ChrX:14862692 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) single nucleotide variant Fanconi anemia [RCV000631018] ChrX:14865249 [GRCh38]
ChrX:14883371 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe) single nucleotide variant Fanconi anemia [RCV000550939] ChrX:14850514 [GRCh38]
ChrX:14868636 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) single nucleotide variant Fanconi anemia [RCV000630867] ChrX:14844677 [GRCh38]
ChrX:14862799 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr) single nucleotide variant Fanconi anemia [RCV000630871] ChrX:14864924 [GRCh38]
ChrX:14883046 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) single nucleotide variant Fanconi anemia [RCV000630973] ChrX:14845076 [GRCh38]
ChrX:14863198 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) deletion Fanconi anemia, complementation group B [RCV000851562]|not provided [RCV000681853] ChrX:14845115 [GRCh38]
ChrX:14863237 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.552G>A (p.Leu184=) single nucleotide variant Fanconi anemia [RCV000687904] ChrX:14864959 [GRCh38]
ChrX:14883081 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) single nucleotide variant Fanconi anemia [RCV000690711] ChrX:14865034 [GRCh38]
ChrX:14883156 [GRCh37]
ChrX:Xp22.2
uncertain significance
NC_000023.11:g.(?_14857852)_(14859344_?)del deletion Fanconi anemia [RCV000708047] ChrX:14857852..14859344 [GRCh38]
ChrX:14875974..14877466 [GRCh37]
ChrX:Xp22.2
likely pathogenic|uncertain significance
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) single nucleotide variant Fanconi anemia [RCV000694135]|Fanconi anemia, complementation group B [RCV001167743]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169616] ChrX:14843805 [GRCh38]
ChrX:14861927 [GRCh37]
ChrX:Xp22.2
benign|likely benign|uncertain significance
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala) single nucleotide variant Fanconi anemia [RCV000686293] ChrX:14857926 [GRCh38]
ChrX:14876048 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile) single nucleotide variant Fanconi anemia [RCV000706514] ChrX:14844551 [GRCh38]
ChrX:14862673 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val) single nucleotide variant Fanconi anemia [RCV000697385] ChrX:14850670 [GRCh38]
ChrX:14868792 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala) single nucleotide variant Fanconi anemia [RCV000696608] ChrX:14845128 [GRCh38]
ChrX:14863250 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser) single nucleotide variant Fanconi anemia, complementation group B [RCV000851552] ChrX:14865383 [GRCh38]
ChrX:14883505 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs) deletion Fanconi anemia, complementation group B [RCV000851554] ChrX:14864744..14864756 [GRCh38]
ChrX:14882866..14882878 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter) single nucleotide variant Fanconi anemia, complementation group B [RCV000851556] ChrX:14864562 [GRCh38]
ChrX:14882684 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) insertion Fanconi anemia, complementation group B [RCV000851564] ChrX:14844926..14844927 [GRCh38]
ChrX:14863048..14863049 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.-70-246C>T single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000851551] ChrX:14865826 [GRCh38]
ChrX:14883948 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001018113.3(FANCB):c.1042T>C (p.Ser348Pro) single nucleotide variant not provided [RCV000983801] ChrX:14859244 [GRCh38]
ChrX:14877366 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) single nucleotide variant Fanconi anemia [RCV000868818] ChrX:14859219 [GRCh38]
ChrX:14877341 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.177G>A (p.Gln59=) single nucleotide variant not provided [RCV000929488] ChrX:14865334 [GRCh38]
ChrX:14883456 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.1638A>T (p.Gly546=) single nucleotide variant Fanconi anemia [RCV000877681] ChrX:14845145 [GRCh38]
ChrX:14863267 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.513G>A (p.Gln171=) single nucleotide variant Fanconi anemia [RCV000869427] ChrX:14864998 [GRCh38]
ChrX:14883120 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu) single nucleotide variant Fanconi anemia [RCV000864986] ChrX:14845213 [GRCh38]
ChrX:14863335 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.831C>T (p.Cys277=) single nucleotide variant not provided [RCV000925100] ChrX:14864680 [GRCh38]
ChrX:14882802 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys) single nucleotide variant Fanconi anemia [RCV001058310] ChrX:14865481 [GRCh38]
ChrX:14883603 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser) single nucleotide variant Fanconi anemia [RCV001041473] ChrX:14844561 [GRCh38]
ChrX:14862683 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile) single nucleotide variant Fanconi anemia [RCV001058720] ChrX:14845119 [GRCh38]
ChrX:14863241 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp) single nucleotide variant Fanconi anemia [RCV001042410] ChrX:14844998 [GRCh38]
ChrX:14863120 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) duplication Fanconi anemia, complementation group B [RCV000851553] ChrX:14865315..14865316 [GRCh38]
ChrX:14883437..14883438 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro) single nucleotide variant Fanconi anemia, complementation group B [RCV000851558] ChrX:14859300 [GRCh38]
ChrX:14877422 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.1807_1808GA[2] (p.Arg604fs) microsatellite Fanconi anemia, complementation group B [RCV000851563] ChrX:14844969..14844972 [GRCh38]
ChrX:14863091..14863094 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.2166-186T>C single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000851568] ChrX:14844167 [GRCh38]
ChrX:14862289 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.801A>C (p.Ser267=) single nucleotide variant Fanconi anemia [RCV000865820] ChrX:14864710 [GRCh38]
ChrX:14882832 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.1838G>A (p.Arg613His) single nucleotide variant Fanconi anemia [RCV000868889] ChrX:14844945 [GRCh38]
ChrX:14863067 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.2379A>G (p.Gly793=) single nucleotide variant Fanconi anemia [RCV000867649] ChrX:14843768 [GRCh38]
ChrX:14861890 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.609A>C (p.Ser203=) single nucleotide variant not provided [RCV000869052] ChrX:14864902 [GRCh38]
ChrX:14883024 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.1677G>A (p.Lys559=) single nucleotide variant not provided [RCV000916325] ChrX:14845106 [GRCh38]
ChrX:14863228 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.1077A>T (p.Ile359=) single nucleotide variant not provided [RCV000876135] ChrX:14859209 [GRCh38]
ChrX:14877331 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002063.4(GLRA2):c.1089C>T (p.Asp363=) single nucleotide variant not provided [RCV000961787] ChrX:14730215 [GRCh38]
ChrX:14748337 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.376C>T (p.Leu126=) single nucleotide variant not provided [RCV000865550] ChrX:14865135 [GRCh38]
ChrX:14883257 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.1899A>G (p.Leu633=) single nucleotide variant not provided [RCV000867685] ChrX:14844884 [GRCh38]
ChrX:14863006 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr) single nucleotide variant Fanconi anemia [RCV000813601] ChrX:14843880 [GRCh38]
ChrX:14862002 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser) single nucleotide variant Fanconi anemia [RCV000807546] ChrX:14843979 [GRCh38]
ChrX:14862101 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe) single nucleotide variant Fanconi anemia [RCV000802021] ChrX:14864613 [GRCh38]
ChrX:14882735 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile) single nucleotide variant Fanconi anemia [RCV000805657] ChrX:14853077 [GRCh38]
ChrX:14871199 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val) single nucleotide variant Fanconi anemia [RCV000820668] ChrX:14864588 [GRCh38]
ChrX:14882710 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr) single nucleotide variant Fanconi anemia [RCV000823469] ChrX:14850629 [GRCh38]
ChrX:14868751 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_152633.4(FANCB):c.-70-3463_951dup duplication Fanconi anemia, complementation group B [RCV000851549] ChrX:14864559..14864560 [GRCh38]
ChrX:14882681..14882682 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro) single nucleotide variant Fanconi anemia, complementation group B [RCV000851565] ChrX:14844641 [GRCh38]
ChrX:14862763 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) single nucleotide variant Fanconi anemia, complementation group B [RCV001165702]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165703] ChrX:14865149 [GRCh38]
ChrX:14883271 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) single nucleotide variant Fanconi anemia [RCV001313286]|Fanconi anemia, complementation group B [RCV001167290]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167291] ChrX:14865315 [GRCh38]
ChrX:14883437 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) single nucleotide variant Fanconi anemia, complementation group B [RCV001169621]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165640] ChrX:14844739 [GRCh38]
ChrX:14862861 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) single nucleotide variant Fanconi anemia, complementation group B [RCV001165642]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165641] ChrX:14845131 [GRCh38]
ChrX:14863253 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1257T>C (p.Ile419=) single nucleotide variant not provided [RCV000941946] ChrX:14853108 [GRCh38]
ChrX:14871230 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) single nucleotide variant Fanconi anemia [RCV000811640]|not provided [RCV000999328] ChrX:14864678 [GRCh38]
ChrX:14882800 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1105-26TATT[5] microsatellite Fanconi anemia [RCV000872856] ChrX:14857957..14857960 [GRCh38]
ChrX:14876079..14876082 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.-219G>T single nucleotide variant Fanconi anemia, complementation group B [RCV001167891]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167892] ChrX:14873013 [GRCh38]
ChrX:14891135 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.183C>T (p.Ser61=) single nucleotide variant Fanconi anemia, complementation group B [RCV001167292]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167293] ChrX:14865328 [GRCh38]
ChrX:14883450 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) single nucleotide variant Fanconi anemia, complementation group B [RCV001169688]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165701] ChrX:14864702 [GRCh38]
ChrX:14882824 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) single nucleotide variant Fanconi anemia [RCV000869696] ChrX:14865007 [GRCh38]
ChrX:14883129 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter) single nucleotide variant Fanconi anemia, complementation group B [RCV000851566] ChrX:14844609 [GRCh38]
ChrX:14862731 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.951+129A>C single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000851557] ChrX:14864431 [GRCh38]
ChrX:14882553 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs) deletion Fanconi anemia, complementation group B [RCV000851570] ChrX:14843972..14843975 [GRCh38]
ChrX:14862094..14862097 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.256A>G (p.Arg86Gly) single nucleotide variant Fanconi anemia [RCV001213772] ChrX:14865255 [GRCh38]
ChrX:14883377 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met) single nucleotide variant Fanconi anemia [RCV001219942] ChrX:14844514 [GRCh38]
ChrX:14862636 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp) single nucleotide variant Fanconi anemia [RCV001222930] ChrX:14845064 [GRCh38]
ChrX:14863186 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn) single nucleotide variant Fanconi anemia [RCV001227031] ChrX:14844649 [GRCh38]
ChrX:14862771 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr) single nucleotide variant Fanconi anemia [RCV001221950] ChrX:14844711 [GRCh38]
ChrX:14862833 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter) single nucleotide variant Fanconi anemia, complementation group B [RCV000851559] ChrX:14859183 [GRCh38]
ChrX:14877305 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.2166-176A>G single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000851569] ChrX:14844157 [GRCh38]
ChrX:14862279 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
NC_000023.11:g.14843408_14873063del deletion Fanconi anemia, complementation group B [RCV000851548]   pathogenic
NM_001018113.3(FANCB):c.829dup (p.Cys277fs) duplication Fanconi anemia, complementation group B [RCV000851555] ChrX:14864681..14864682 [GRCh38]
ChrX:14882803..14882804 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs) deletion Fanconi anemia, complementation group B [RCV000851561] ChrX:14843567..14845286 [GRCh38]
ChrX:14861689..14863408 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.2165+1G>T single nucleotide variant Fanconi anemia, complementation group B [RCV000851567] ChrX:14844502 [GRCh38]
ChrX:14862624 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001018113.3(FANCB):c.2249G>T (p.Gly750Val) single nucleotide variant not provided [RCV000851571] ChrX:14843898 [GRCh38]
ChrX:14862020 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs) deletion Fanconi anemia, complementation group B [RCV000851572] ChrX:14843895..14843898 [GRCh38]
ChrX:14862017..14862020 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) single nucleotide variant Fanconi anemia, complementation group B [RCV001167814]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167813] ChrX:14857880 [GRCh38]
ChrX:14876002 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn) single nucleotide variant Fanconi anemia [RCV001212847] ChrX:14865053 [GRCh38]
ChrX:14883175 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.1634T>C (p.Ile545Thr) single nucleotide variant not provided [RCV000878409] ChrX:14845149 [GRCh38]
ChrX:14863271 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) single nucleotide variant Fanconi anemia [RCV000860710]|Fanconi anemia, complementation group B [RCV001169620]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169619] ChrX:14844681 [GRCh38]
ChrX:14862803 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) single nucleotide variant Fanconi anemia [RCV000862524] ChrX:14844673 [GRCh38]
ChrX:14862795 [GRCh37]
ChrX:Xp22.2
benign
NM_001018113.3(FANCB):c.2301A>C (p.Leu767=) single nucleotide variant not provided [RCV000872178] ChrX:14843846 [GRCh38]
ChrX:14861968 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr) single nucleotide variant Fanconi anemia [RCV001218370] ChrX:14844696 [GRCh38]
ChrX:14862818 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.131A>C (p.His44Pro) single nucleotide variant Fanconi anemia [RCV001239271] ChrX:14865380 [GRCh38]
ChrX:14883502 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val) single nucleotide variant Fanconi anemia [RCV001227268] ChrX:14865003 [GRCh38]
ChrX:14883125 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.*151A>G single nucleotide variant Fanconi anemia, complementation group B [RCV001165571]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167167] ChrX:14843416 [GRCh38]
ChrX:14861538 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala) single nucleotide variant Fanconi anemia [RCV001223805] ChrX:14853040 [GRCh38]
ChrX:14871162 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser) single nucleotide variant Fanconi anemia [RCV001206161] ChrX:14845177 [GRCh38]
ChrX:14863299 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1755A>G (p.Ser585=) single nucleotide variant not provided [RCV000890339] ChrX:14845028 [GRCh38]
ChrX:14863150 [GRCh37]
ChrX:Xp22.2
likely benign
NC_000023.11:g.(?_14843557)_(14873062_?)dup duplication Fanconi anemia [RCV001033827] ChrX:14861679..14891184 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser) single nucleotide variant Fanconi anemia [RCV001048262] ChrX:14864823 [GRCh38]
ChrX:14882945 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala) single nucleotide variant Malignant tumor of breast [RCV001004842] ChrX:14850521 [GRCh38]
ChrX:14868643 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr) single nucleotide variant Fanconi anemia [RCV001054561] ChrX:14845081 [GRCh38]
ChrX:14863203 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) single nucleotide variant Fanconi anemia, complementation group B [RCV001167741]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167742] ChrX:14843774 [GRCh38]
ChrX:14861896 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
NM_001018113.3(FANCB):c.-111A>G single nucleotide variant Fanconi anemia, complementation group B [RCV001167294]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167890] ChrX:14868963 [GRCh38]
ChrX:14887085 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2(chrX:14718204-15192555)x3 copy number gain not provided [RCV001259460] ChrX:14718204..15192555 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001018113.3(FANCB):c.653A>C (p.Glu218Ala) single nucleotide variant Inborn genetic diseases [RCV001265822] ChrX:14864858 [GRCh38]
ChrX:14882980 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2470T>G (p.Leu824Val) single nucleotide variant Fanconi anemia [RCV001324568] ChrX:14843677 [GRCh38]
ChrX:14861799 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg) single nucleotide variant Fanconi anemia, complementation group B [RCV001262342] ChrX:14850543 [GRCh38]
ChrX:14868665 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_001018113.3(FANCB):c.679T>C (p.Tyr227His) single nucleotide variant Fanconi anemia [RCV001350370] ChrX:14864832 [GRCh38]
ChrX:14882954 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) single nucleotide variant Fanconi anemia [RCV001301818] ChrX:14864711 [GRCh38]
ChrX:14882833 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) single nucleotide variant Fanconi anemia, complementation group B [RCV001292792] ChrX:14843923 [GRCh38]
ChrX:14862045 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2144G>T (p.Gly715Val) single nucleotide variant Fanconi anemia [RCV001351956] ChrX:14844524 [GRCh38]
ChrX:14862646 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys) single nucleotide variant Fanconi anemia [RCV001323948] ChrX:14844509 [GRCh38]
ChrX:14862631 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.677T>C (p.Ile226Thr) single nucleotide variant Fanconi anemia [RCV001340696] ChrX:14864834 [GRCh38]
ChrX:14882956 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) single nucleotide variant Fanconi anemia [RCV001352034] ChrX:14853139 [GRCh38]
ChrX:14871261 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1858G>A (p.Val620Ile) single nucleotide variant Fanconi anemia [RCV001309910] ChrX:14844925 [GRCh38]
ChrX:14863047 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) single nucleotide variant Fanconi anemia [RCV001324210] ChrX:14857941 [GRCh38]
ChrX:14876063 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser) single nucleotide variant Fanconi anemia [RCV001300595] ChrX:14843708 [GRCh38]
ChrX:14861830 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.341G>A (p.Ser114Asn) single nucleotide variant Fanconi anemia [RCV001345341] ChrX:14865170 [GRCh38]
ChrX:14883292 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) single nucleotide variant Fanconi anemia [RCV001309217] ChrX:14864918 [GRCh38]
ChrX:14883040 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1582A>G (p.Ile528Val) single nucleotide variant Fanconi anemia [RCV001322701] ChrX:14845201 [GRCh38]
ChrX:14863323 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1407A>G (p.Gln469=) single nucleotide variant Fanconi anemia [RCV001306266] ChrX:14850594 [GRCh38]
ChrX:14868716 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1021G>A (p.Val341Ile) single nucleotide variant Fanconi anemia [RCV001340439] ChrX:14859265 [GRCh38]
ChrX:14877387 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.440T>C (p.Val147Ala) single nucleotide variant Fanconi anemia [RCV001304993] ChrX:14865071 [GRCh38]
ChrX:14883193 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu) single nucleotide variant Fanconi anemia [RCV001325087] ChrX:14865219 [GRCh38]
ChrX:14883341 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu) single nucleotide variant Fanconi anemia [RCV001339357] ChrX:14843854 [GRCh38]
ChrX:14861976 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) single nucleotide variant Fanconi anemia [RCV001349991] ChrX:14844945 [GRCh38]
ChrX:14863067 [GRCh37]
ChrX:Xp22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3583 AgrOrtholog
COSMIC FANCB COSMIC
Ensembl Genes ENSG00000181544 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000326819 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381378 UniProtKB/Swiss-Prot
  ENSP00000397849 UniProtKB/TrEMBL
  ENSP00000494963 UniProtKB/TrEMBL
  ENSP00000495047 UniProtKB/TrEMBL
  ENSP00000498215 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000324138 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398334 UniProtKB/Swiss-Prot
  ENST00000452869 UniProtKB/TrEMBL
  ENST00000643728 UniProtKB/TrEMBL
  ENST00000646255 UniProtKB/TrEMBL
  ENST00000650831 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000181544 GTEx
HGNC ID HGNC:3583 ENTREZGENE
Human Proteome Map FANCB Human Proteome Map
InterPro FANCB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2187 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2187 ENTREZGENE
OMIM 300514 OMIM
  300515 OMIM
PANTHER PTHR28450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27996 PharmGKB
UniProt A0A024RBW1 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YDV8_HUMAN UniProtKB/TrEMBL
  C9J5X9_HUMAN UniProtKB/TrEMBL
  FANCB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RMZ4 UniProtKB/Swiss-Prot
  Q7Z2U2 UniProtKB/Swiss-Prot
  Q86XG1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-15 FANCB  FA complementation group B    Fanconi anemia complementation group B  Symbol and/or name change 5135510 APPROVED
2015-11-10 FANCB  Fanconi anemia complementation group B    Fanconi anemia, complementation group B  Symbol and/or name change 5135510 APPROVED
2011-08-17 FANCB  Fanconi anemia, complementation group B  FANCB  Fanconi anemia, complementation group B  Symbol and/or name change 5135510 APPROVED