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:3583
Description: Predicted to be involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via homologous recombination; and replication-born double-strand break repair via sister chromatid exchange. Predicted to act upstream of or within several processes, including bone marrow development; cellular response to camptothecin; and hematopoietic stem cell differentiation. Located in chromatin. Part of 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
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X14,689,524 - 14,873,069 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX14,690,388 - 14,873,255 (-)EnsemblGRCh38hg38GRCh38
GRCh37X14,813,750 - 14,891,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X14,771,450 - 14,801,105 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X14,621,185 - 14,650,848NCBI
CeleraX18,976,913 - 19,006,568 (-)NCBICelera
Cytogenetic MapXp22.2NCBI
HuRefX12,620,535 - 12,649,320 (-)NCBIHuRef
CHM1_1X14,891,941 - 14,921,594 (-)NCBICHM1_1
T2T-CHM13v2.0X14,266,304 - 14,453,760 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IDA)
cytosol  (TAS)
Fanconi anaemia nuclear complex  (IBA,IDA,IEA,NAS)
nucleoplasm  (TAS)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal fallopian tube morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal optic nerve morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal preputium morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the outer ear  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of the vertebral column  (IAGP)
Abnormality of vision  (IAGP)
Absence of stomach bubble on fetal sonography  (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)
Anemia  (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)
Autism  (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)
Dextrocardia  (IAGP)
Dolichocephaly  (IAGP)
Duodenal atresia  (IAGP)
Duodenal stenosis  (IAGP)
Enlarged kidney  (IAGP)
Epicanthus  (IAGP)
Esophageal atresia  (IAGP)
Facial asymmetry  (IAGP)
Femoral hernia  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand polydactyly  (IAGP)
Hearing abnormality  (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)
Irregular hyperpigmentation  (IAGP)
Isomerism  (IAGP)
Laryngeal atresia  (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)
Neonatal death  (IAGP)
Neoplasm  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Optic disc hypoplasia  (IAGP)
Overfolded helix  (IAGP)
Patent ductus arteriosus  (IAGP)
Persistent left superior vena cava  (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)
Sacral dimple  (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)
Third trimester onset  (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

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers. Smith IM, etal., ORL J Otorhinolaryngol Relat Spec. 2010;72(1):44-50. doi: 10.1159/000292104. Epub 2010 Mar 24.
6. Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma. Wreesmann VB, etal., ORL J Otorhinolaryngol Relat Spec. 2007;69(4):218-25. Epub 2007 Apr 4.
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:19965384   PMID:20301575   PMID:20301753   PMID:20347428   PMID:20347429  
PMID:20360068   PMID:20465790   PMID:21873635   PMID:21910217   PMID:21948523   PMID:22343915   PMID:22705371   PMID:24910428   PMID:26186194   PMID:26496610   PMID:27173435   PMID:27986371  
PMID:28514442   PMID:29193904   PMID:29232005   PMID:29491055   PMID:29507755   PMID:29656893   PMID:31180492   PMID:33542213   PMID:33961781   PMID:34159380   PMID:35156780   PMID:35271311  
PMID:36172730  


Genomics

Comparative Map Data
FANCB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X14,689,524 - 14,873,069 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX14,690,388 - 14,873,255 (-)EnsemblGRCh38hg38GRCh38
GRCh37X14,813,750 - 14,891,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X14,771,450 - 14,801,105 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X14,621,185 - 14,650,848NCBI
CeleraX18,976,913 - 19,006,568 (-)NCBICelera
Cytogenetic MapXp22.2NCBI
HuRefX12,620,535 - 12,649,320 (-)NCBIHuRef
CHM1_1X14,891,941 - 14,921,594 (-)NCBICHM1_1
T2T-CHM13v2.0X14,266,304 - 14,453,760 (-)NCBIT2T-CHM13v2.0
Fancb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X163,763,678 - 163,780,266 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX163,763,588 - 163,780,268 (+)EnsemblGRCm39 Ensembl
GRCm38X164,980,480 - 164,997,272 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX164,980,592 - 164,997,272 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X161,418,524 - 161,435,204 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X160,324,818 - 160,341,377 (+)NCBIMGSCv36mm8
CeleraX148,182,688 - 148,199,367 (+)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX76.75NCBI
Fancb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X33,035,387 - 33,051,993 (-)NCBIGRCr8
mRatBN7.2X29,403,771 - 29,420,484 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX29,403,771 - 29,420,192 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX30,449,735 - 30,464,253 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X33,873,385 - 33,887,896 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X30,074,041 - 30,088,557 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X31,124,018 - 31,140,790 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX31,124,018 - 31,140,711 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X31,503,522 - 31,520,366 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X50,143,416 - 50,157,928 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2X16,638,895 - 16,673,676 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X16,642,560 - 16,677,341 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X7,470,574 - 7,500,958 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X14,752,929 - 14,785,847 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX14,752,934 - 14,781,817 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X10,643,010 - 11,103,126 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX10,652,282 - 11,109,766 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X10,707,452 - 11,166,364 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X10,698,894 - 11,157,725 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X10,725,702 - 11,185,302 (-)NCBIUU_Cfam_GSD_1.0
Fancb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X4,301,397 - 4,330,134 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364704,305,740 - 4,323,374 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364704,305,220 - 4,323,456 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FANCB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX11,384,912 - 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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X13,321,304 - 13,352,368 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX13,321,527 - 13,342,478 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605615,154,251 - 15,187,626 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fancb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624944364,563 - 383,098 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624944358,836 - 383,161 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FANCB
661 total Variants

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.1857_1858del (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|conflicting interpretations of pathogenicity|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]|Fanconi anemia complementation group B [RCV003316676] 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]|VACTERL association, X-linked, with or without hydrocephalus [RCV000394031]|X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851560]|not provided [RCV001711366]|not specified [RCV000079364] ChrX:14850684 [GRCh38]
ChrX:14868806 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_001018113.3(FANCB):c.1327-3del deletion FANCB-related disorder [RCV004748562]|Fanconi Anemia, X-Linked [RCV000293716]|Fanconi anemia [RCV000471169]|Inborn genetic diseases [RCV002316226]|VACTERL with hydrocephalus [RCV000388053]|not provided [RCV001682765]|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
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys) single nucleotide variant Fanconi anemia [RCV001944938]|Fanconi anemia complementation group B [RCV002490032] ChrX:14850514 [GRCh38]
ChrX:14868636 [GRCh37]
ChrX:Xp22.2		 uncertain significance
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]|Inborn genetic diseases [RCV002426730]|not specified [RCV000153229] ChrX:14857956..14857957 [GRCh38]
ChrX:14876078..14876079 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|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 FANCB-related disorder [RCV003967429]|Fanconi anemia [RCV001085637]|not provided [RCV000178139]|not specified [RCV001818433] ChrX:14859297 [GRCh38]
ChrX:14877419 [GRCh37]
ChrX:Xp22.2		 benign|likely 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]|Inborn genetic diseases [RCV002453636]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167815]|not provided [RCV003436973]|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]|Fanconi anemia complementation group B [RCV002490945]|Fanconi anemia complementation group B [RCV003316677]|not provided [RCV004808748] ChrX:14865181 [GRCh38]
ChrX:14883303 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) single nucleotide variant FANCB-related disorder [RCV003955391]|Fanconi anemia [RCV000235236]|not provided [RCV003237800]|not specified [RCV001820790] ChrX:14865004 [GRCh38]
ChrX:14883126 [GRCh37]
ChrX:Xp22.2		 benign|likely 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 FANCB-related disorder [RCV003907910]|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]|not specified [RCV001726070] 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]|Inborn genetic diseases [RCV004619232] 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 FANCB-related disorder [RCV003930015]|Fanconi anemia [RCV000236495]|Fanconi anemia complementation group B [RCV003316313]|History of neurodevelopmental disorder [RCV000721015]|not provided [RCV001727653]|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 FANCB-related disorder [RCV003947808]|Fanconi anemia [RCV000236537]|Fanconi anemia complementation group B [RCV000390121]|VACTERL association, X-linked, with or without hydrocephalus [RCV000301708]|not provided [RCV003437033]|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 FANCB-related disorder [RCV003947807]|Fanconi anemia [RCV000237072]|not provided [RCV003884430]|not specified [RCV001820789] ChrX:14844578 [GRCh38]
ChrX:14862700 [GRCh37]
ChrX:Xp22.2		 benign|likely 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 Fanconi anemia [RCV001523706]|not specified [RCV000606668] ChrX:14843712 [GRCh38]
ChrX:14861834 [GRCh37]
ChrX:Xp22.2		 benign|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]|Inborn genetic diseases [RCV002317780]|VACTERL association, X-linked, with or without hydrocephalus [RCV000301775]|not provided [RCV001711800]|not specified [RCV000241904] ChrX:14859282 [GRCh38]
ChrX:14877404 [GRCh37]
ChrX:Xp22.2		 benign|likely 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 FANCB-related disorder [RCV003897823]|Fanconi anemia [RCV001516420]|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 [RCV002058826]|Fanconi anemia complementation group B [RCV000325870]|VACTERL association, X-linked, with or without hydrocephalus [RCV000271181] ChrX:14859347 [GRCh38]
ChrX:14877469 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) single nucleotide variant Fanconi anemia [RCV001404085]|Fanconi anemia complementation group B [RCV000318403]|VACTERL association, X-linked, with or without hydrocephalus [RCV000260730]|not provided [RCV002512100] 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]|not provided [RCV001683459] 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 FANCB-related disorder [RCV003955428]|Fanconi anemia [RCV002059078]|Fanconi anemia complementation group B [RCV002502093]|Inborn genetic diseases [RCV002450802]|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]|not specified [RCV001821127] 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 FANCB-related disorder [RCV003972550]|Fanconi anemia [RCV000630971]|Fanconi anemia complementation group B [RCV000324199]|Inborn genetic diseases [RCV002523824]|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]|Fanconi anemia complementation group B [RCV002488832]|Inborn genetic diseases [RCV002392931]|VACTERL association, X-linked, with or without hydrocephalus [RCV000388194]|not provided [RCV004713874]|not specified [RCV000500090] ChrX:14850507 [GRCh38]
ChrX:14868629 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|uncertain significance
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) single nucleotide variant FANCB-related disorder [RCV003970085]|Fanconi Anemia, X-Linked [RCV000386373]|Fanconi anemia [RCV000475401]|VACTERL 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 FANCB-related disorder [RCV003947831]|Fanconi anemia [RCV001087773]|Inborn genetic diseases [RCV002518813]|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 [RCV001516965]|Fanconi anemia complementation group B [RCV000335633]|Inborn genetic diseases [RCV004975493]|VACTERL association, X-linked, with or without hydrocephalus [RCV000299580] 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 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]|VACTERL association, X-linked, with or without hydrocephalus [RCV000268796]|X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851550]|not provided [RCV004713875] 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
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001018113.3(FANCB):c.2166-229dup duplication not provided [RCV001565598] ChrX:14844202..14844203 [GRCh38]
ChrX:14862324..14862325 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2392G>A (p.Val798Ile) single nucleotide variant Fanconi anemia [RCV005090984]|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]|Fanconi anemia complementation group B [RCV004783803] ChrX:14865459 [GRCh38]
ChrX:14883581 [GRCh37]
ChrX:Xp22.2		 likely benign|conflicting interpretations of pathogenicity|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|likely 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 FANCB-related disorder [RCV003942481]|Fanconi anemia [RCV001487463]|Fanconi anemia complementation group B [RCV000766076]|Inborn genetic diseases [RCV004022680]|not specified [RCV001821263] 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]|Fanconi anemia complementation group B [RCV002480393] 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]|Inborn genetic diseases [RCV003258818]|not specified [RCV001821264] 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 FANCB-related disorder [RCV003960074]|Fanconi anemia [RCV000468906]|Fanconi anemia complementation group B [RCV001167168]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167740]|not provided [RCV003437214] ChrX:14843670 [GRCh38]
ChrX:14861792 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_001018113.3(FANCB):c.1695_1698del (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 Fanconi anemia [RCV001513609]|Fanconi anemia complementation group B [RCV002496947]|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 FANCB-related disorder [RCV004748791]|Fanconi anemia [RCV001516277]|not provided [RCV003237883]|not specified [RCV000501276] ChrX:14865384 [GRCh38]
ChrX:14883506 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys) single nucleotide variant Fanconi anemia [RCV001857097]|not provided [RCV004808737]|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 Fanconi anemia [RCV003635919]|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 [RCV001444357]|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.473G>A (p.Gly158Asp) single nucleotide variant Inborn genetic diseases [RCV003250290] ChrX:14865038 [GRCh38]
ChrX:14883160 [GRCh37]
ChrX:Xp22.2		 uncertain significance
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 Fanconi anemia [RCV002060714]|Fanconi anemia complementation group B [RCV002492951]|Inborn genetic diseases [RCV002528849] ChrX:14850608 [GRCh38]
ChrX:14868730 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) single nucleotide variant Fanconi anemia [RCV000630950]|Inborn genetic diseases [RCV004025394] 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]|not specified [RCV001821783] 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]|not provided [RCV001357784] 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]|not specified [RCV001821784] ChrX:14865249 [GRCh38]
ChrX:14883371 [GRCh37]
ChrX:Xp22.2		 benign|likely 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]|Fanconi anemia complementation group B [RCV005044921] 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 FANCB-related disorder [RCV003965438]|Fanconi anemia [RCV000687904] ChrX:14864959 [GRCh38]
ChrX:14883081 [GRCh37]
ChrX:Xp22.2		 benign|likely 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]|not provided [RCV001756194]|not specified [RCV001816713] 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 X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851551]|not provided [RCV001644841] ChrX:14865826 [GRCh38]
ChrX:14883948 [GRCh37]
ChrX:Xp22.2		 benign|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 Autism [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 Autism [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 Fanconi anemia [RCV001471456] ChrX:14859244 [GRCh38]
ChrX:14877366 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) single nucleotide variant FANCB-related disorder [RCV003965726]|Fanconi anemia [RCV000868818]|Fanconi anemia complementation group B [RCV002495286]|Inborn genetic diseases [RCV002409068] ChrX:14859219 [GRCh38]
ChrX:14877341 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|uncertain significance
NM_001018113.3(FANCB):c.177G>A (p.Gln59=) single nucleotide variant Fanconi anemia [RCV001483438] 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]|Inborn genetic diseases [RCV004973052]|not specified [RCV001816965] ChrX:14845213 [GRCh38]
ChrX:14863335 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
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.1811_1814del (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 X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851568]|not provided [RCV001655609] ChrX:14844167 [GRCh38]
ChrX:14862289 [GRCh37]
ChrX:Xp22.2		 benign|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 Fanconi anemia [RCV001499155] 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 Fanconi anemia [RCV002064839] ChrX:14859209 [GRCh38]
ChrX:14877331 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.1089C>T (p.Asp363=) single nucleotide variant GLRA2-related disorder [RCV003978380]|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 Fanconi anemia [RCV001421963] ChrX:14865135 [GRCh38]
ChrX:14883257 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1899A>G (p.Leu633=) single nucleotide variant Fanconi anemia [RCV002064559] 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]|Fanconi anemia complementation group B [RCV002487698] 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 [RCV001511171]|Fanconi anemia complementation group B [RCV001165702]|Inborn genetic diseases [RCV002558612]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165703]|not provided [RCV003438696] ChrX:14865149 [GRCh38]
ChrX:14883271 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|uncertain significance
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]|not provided [RCV004546609] ChrX:14865315 [GRCh38]
ChrX:14883437 [GRCh37]
ChrX:Xp22.2		 likely benign|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 Fanconi anemia [RCV001493553] 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]|Fanconi anemia complementation group B [RCV003145169]|not provided [RCV000999328] ChrX:14864678 [GRCh38]
ChrX:14882800 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.1105-26TATT[5] microsatellite FANCB-related disorder [RCV003930401]|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 [RCV001466611]|Fanconi anemia complementation group B [RCV001167292]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167293] ChrX:14865328 [GRCh38]
ChrX:14883450 [GRCh37]
ChrX:Xp22.2		 likely benign|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]|Fanconi anemia complementation group B [RCV002495289] ChrX:14865007 [GRCh38]
ChrX:14883129 [GRCh37]
ChrX:Xp22.2		 benign|likely 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 X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851557]|not provided [RCV001619841] ChrX:14864431 [GRCh38]
ChrX:14882553 [GRCh37]
ChrX:Xp22.2		 benign|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]|Fanconi anemia complementation group B [RCV002484210] 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 X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851569]|not provided [RCV001595045] ChrX:14844157 [GRCh38]
ChrX:14862279 [GRCh37]
ChrX:Xp22.2		 benign|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
NM_001018113.1(FANCB):c.(?_-268)_(*160_?)del deletion Fanconi anemia complementation group B [RCV000851548] ChrX:14861529..14891184 [GRCh37]
ChrX:Xp22.2		 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 [RCV001409859]|Fanconi anemia complementation group B [RCV001167814]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167813] ChrX:14857880 [GRCh38]
ChrX:14876002 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn) single nucleotide variant Fanconi anemia [RCV001212847]|Fanconi anemia complementation group B [RCV005040024]|Inborn genetic diseases [RCV002561798] ChrX:14865053 [GRCh38]
ChrX:14883175 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys) single nucleotide variant Fanconi anemia [RCV003106267] ChrX:14843640 [GRCh38]
ChrX:14861762 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_14861689)_(15870650_?)dup duplication Fanconi anemia [RCV003122305]|not provided [RCV003105405] ChrX:14861689..15870650 [GRCh37]
ChrX:Xp22.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001018113.3(FANCB):c.1496+8A>T single nucleotide variant Fanconi anemia [RCV003107111] ChrX:14850497 [GRCh38]
ChrX:14868619 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1497-60C>T single nucleotide variant not provided [RCV001720990] ChrX:14845346 [GRCh38]
ChrX:14863468 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1496+77C>T single nucleotide variant not provided [RCV001550820] ChrX:14850428 [GRCh38]
ChrX:14868550 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1327-72C>A single nucleotide variant not provided [RCV001541709] ChrX:14850746 [GRCh38]
ChrX:14868868 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1634T>C (p.Ile545Thr) single nucleotide variant Fanconi anemia [RCV005092610]|Inborn genetic diseases [RCV004027906] 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 FANCB-related disorder [RCV003955588]|Fanconi anemia [RCV000862524]|Fanconi anemia complementation group B [RCV002501213] ChrX:14844673 [GRCh38]
ChrX:14862795 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_001018113.3(FANCB):c.2301A>C (p.Leu767=) single nucleotide variant Fanconi anemia [RCV001456347] 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]|Fanconi anemia complementation group B [RCV002491624] ChrX:14845177 [GRCh38]
ChrX:14863299 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1755A>G (p.Ser585=) single nucleotide variant Fanconi anemia [RCV001402812] ChrX:14845028 [GRCh38]
ChrX:14863150 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1105-4T>C single nucleotide variant Fanconi anemia [RCV002257243] ChrX:14857958 [GRCh38]
ChrX:14876080 [GRCh37]
ChrX:Xp22.2		 uncertain significance
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]|Fanconi anemia complementation group B [RCV005047243] ChrX:14864823 [GRCh38]
ChrX:14882945 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.2165+138A>G single nucleotide variant not provided [RCV001690967] ChrX:14844365 [GRCh38]
ChrX:14862487 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.-70-144A>G single nucleotide variant not provided [RCV001641408] ChrX:14865724 [GRCh38]
ChrX:14883846 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.2165+2T>G single nucleotide variant Fanconi anemia [RCV001615390] ChrX:14844501 [GRCh38]
ChrX:14862623 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala) single nucleotide variant Fanconi anemia [RCV003635929]|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]|Fanconi anemia complementation group B [RCV005047256] 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 [RCV003769816]|Fanconi anemia complementation group B [RCV001167741]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167742] ChrX:14843774 [GRCh38]
ChrX:14861896 [GRCh37]
ChrX:Xp22.2		 likely benign|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 Fanconi anemia [RCV001880102]|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 [RCV003635955]|Fanconi anemia complementation group B [RCV001262342]|not provided [RCV004697094] ChrX:14850543 [GRCh38]
ChrX:14868665 [GRCh37]
ChrX:Xp22.2		 uncertain significance
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_001018113.3(FANCB):c.1736C>T (p.Thr579Ile) single nucleotide variant Fanconi anemia [RCV001908033] ChrX:14845047 [GRCh38]
ChrX:14863169 [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 FANCB-related disorder [RCV003405585]|Fanconi anemia [RCV001350370] ChrX:14864832 [GRCh38]
ChrX:14882954 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1199C>T (p.Pro400Leu) single nucleotide variant See cases [RCV001813921] ChrX:14730325 [GRCh38]
ChrX:14748447 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) single nucleotide variant FANCB-related disorder [RCV003898292]|Fanconi anemia [RCV001301818]|Fanconi anemia complementation group B [RCV002486161]|Inborn genetic diseases [RCV004978271] ChrX:14864711 [GRCh38]
ChrX:14882833 [GRCh37]
ChrX:Xp22.2		 likely benign|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]|not provided [RCV004692505] 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]|Fanconi anemia complementation group B [RCV005005202]|not provided [RCV004809572] ChrX:14853139 [GRCh38]
ChrX:14871261 [GRCh37]
ChrX:Xp22.2		 likely benign|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 FANCB-related disorder [RCV003416208]|Fanconi anemia [RCV001324210]|Fanconi anemia complementation group B [RCV005005173] ChrX:14857941 [GRCh38]
ChrX:14876063 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.361C>T (p.Arg121Cys) single nucleotide variant Fanconi anemia [RCV001374175] ChrX:14865150 [GRCh38]
ChrX:14883272 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His) single nucleotide variant Fanconi anemia [RCV001363285]|not provided [RCV003438752] ChrX:14853098 [GRCh38]
ChrX:14871220 [GRCh37]
ChrX:Xp22.2		 likely benign|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]|Fanconi anemia complementation group B [RCV002493619] 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		 likely benign|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]|Fanconi anemia complementation group B [RCV005050340] 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]|Fanconi anemia complementation group B [RCV005005199]|not provided [RCV004692613] ChrX:14844945 [GRCh38]
ChrX:14863067 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.1703A>C (p.His568Pro) single nucleotide variant Fanconi anemia [RCV001365944] ChrX:14845080 [GRCh38]
ChrX:14863202 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.197C>T (p.Thr66Ile) single nucleotide variant Fanconi anemia [RCV001404964] ChrX:14865314 [GRCh38]
ChrX:14883436 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2193T>G (p.Leu731=) single nucleotide variant Fanconi anemia [RCV001462976] ChrX:14843954 [GRCh38]
ChrX:14862076 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2142A>G (p.Glu714=) single nucleotide variant Fanconi anemia [RCV001489324] ChrX:14844526 [GRCh38]
ChrX:14862648 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1327-12dup duplication Fanconi anemia [RCV001521829]|not specified [RCV001821838] ChrX:14850676..14850677 [GRCh38]
ChrX:14868798..14868799 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_001018113.3(FANCB):c.708G>A (p.Val236=) single nucleotide variant Fanconi anemia [RCV001429672] ChrX:14864803 [GRCh38]
ChrX:14882925 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2166-9T>C single nucleotide variant Fanconi anemia [RCV001418625] ChrX:14843990 [GRCh38]
ChrX:14862112 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) single nucleotide variant Fanconi anemia [RCV001431490]|Fanconi anemia complementation group B [RCV002504711]|not provided [RCV003438793] ChrX:14845016 [GRCh38]
ChrX:14863138 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.18A>G (p.Ala6=) single nucleotide variant Fanconi anemia [RCV001416555] ChrX:14865493 [GRCh38]
ChrX:14883615 [GRCh37]
ChrX:Xp22.2		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001018113.3(FANCB):c.2553T>C (p.Phe851=) single nucleotide variant Fanconi anemia [RCV001519912] ChrX:14843594 [GRCh38]
ChrX:14861716 [GRCh37]
ChrX:Xp22.2		 benign
NC_000023.11:g.14843282T>C single nucleotide variant not provided [RCV001695671] ChrX:14843282 [GRCh38]
ChrX:14861404 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1496+148dup duplication not provided [RCV001617781] ChrX:14850349..14850350 [GRCh38]
ChrX:14868471..14868472 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu) single nucleotide variant Fanconi anemia [RCV001460372]|not provided [RCV003238370] ChrX:14844871 [GRCh38]
ChrX:14862993 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.774C>G (p.Ala258=) single nucleotide variant Fanconi anemia [RCV001521452] ChrX:14864737 [GRCh38]
ChrX:14882859 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.318A>G (p.Glu106=) single nucleotide variant Fanconi anemia [RCV001499513] ChrX:14865193 [GRCh38]
ChrX:14883315 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1894T>G (p.Tyr632Asp) single nucleotide variant Fanconi anemia [RCV001489594] ChrX:14844889 [GRCh38]
ChrX:14863011 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln) single nucleotide variant Fanconi anemia [RCV002255929] ChrX:14845227 [GRCh38]
ChrX:14863349 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1008T>A (p.Ser336Arg) single nucleotide variant not provided [RCV001730327] ChrX:14859278 [GRCh38]
ChrX:14877400 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu) single nucleotide variant FANCB-related disorder [RCV003892830]|Fanconi anemia [RCV002074016]|not provided [RCV001761472] ChrX:14859183 [GRCh38]
ChrX:14877305 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.1552T>A (p.Phe518Ile) single nucleotide variant Fanconi anemia [RCV002257247] ChrX:14845231 [GRCh38]
ChrX:14863353 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1496T>C (p.Leu499Pro) single nucleotide variant Fanconi anemia [RCV002258570] ChrX:14850505 [GRCh38]
ChrX:14868627 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.101A>T (p.Asp34Val) single nucleotide variant Inborn genetic diseases [RCV004040135]|not provided [RCV001767295] ChrX:14865410 [GRCh38]
ChrX:14883532 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp) single nucleotide variant Fanconi anemia [RCV002077211]|not provided [RCV003238106] ChrX:14853140 [GRCh38]
ChrX:14871262 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) indel Fanconi anemia complementation group B [RCV002506771]|not provided [RCV001774202] ChrX:14843578..14843582 [GRCh38]
ChrX:14861700..14861704 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr) single nucleotide variant Intellectual developmental disorder, X-linked, syndromic, Pilorge type [RCV002464492]|See cases [RCV001813917] ChrX:14730312 [GRCh38]
ChrX:14748434 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|uncertain significance
NM_001018113.3(FANCB):c.2365G>A (p.Glu789Lys) single nucleotide variant Inborn genetic diseases [RCV002540720]|not provided [RCV003238662] ChrX:14843782 [GRCh38]
ChrX:14861904 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe) single nucleotide variant Fanconi anemia [RCV001885108]|not provided [RCV003238663] ChrX:14844522 [GRCh38]
ChrX:14862644 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.164A>G (p.Lys55Arg) single nucleotide variant not provided [RCV003238665] ChrX:14865347 [GRCh38]
ChrX:14883469 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1197+19_1197+21del microsatellite Fanconi anemia [RCV002074046]|not provided [RCV003238666] ChrX:14857841..14857843 [GRCh38]
ChrX:14875963..14875965 [GRCh37]
ChrX:Xp22.2		 benign|uncertain significance
NM_001018113.3(FANCB):c.21G>C (p.Met7Ile) single nucleotide variant not provided [RCV001760533] ChrX:14865490 [GRCh38]
ChrX:14883612 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001018113.3(FANCB):c.1497-3dup duplication not specified [RCV001819497] ChrX:14845288..14845289 [GRCh38]
ChrX:14863410..14863411 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1334G>A (p.Arg445Gln) single nucleotide variant See cases [RCV001813920] ChrX:14730460 [GRCh38]
ChrX:14748582 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_001018113.3(FANCB):c.1729A>T (p.Ile577Leu) single nucleotide variant not specified [RCV001819236] ChrX:14845054 [GRCh38]
ChrX:14863176 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile) single nucleotide variant Fanconi anemia [RCV001869746]|Fanconi anemia complementation group B [RCV005040398]|not provided [RCV003883708]|not specified [RCV001822360] ChrX:14843709 [GRCh38]
ChrX:14861831 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2265A>G (p.Leu755=) single nucleotide variant Fanconi anemia [RCV002074362]|not specified [RCV001822639] ChrX:14843882 [GRCh38]
ChrX:14862004 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_001018113.3(FANCB):c.392A>G (p.Lys131Arg) single nucleotide variant not specified [RCV001822754] ChrX:14865119 [GRCh38]
ChrX:14883241 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg) single nucleotide variant Fanconi anemia [RCV001929393]|Fanconi anemia complementation group B [RCV004785393] ChrX:14865018 [GRCh38]
ChrX:14883140 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu) single nucleotide variant Fanconi anemia [RCV001929972] ChrX:14843594 [GRCh38]
ChrX:14861716 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2477C>A (p.Thr826Lys) single nucleotide variant Fanconi anemia [RCV001928306] ChrX:14843670 [GRCh38]
ChrX:14861792 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1327-1G>A single nucleotide variant Fanconi anemia [RCV002007855]|Fanconi anemia complementation group B [RCV005042633]|Glioma susceptibility 1 [RCV004555895] ChrX:14850675 [GRCh38]
ChrX:14868797 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|uncertain significance
NM_001018113.3(FANCB):c.628A>G (p.Thr210Ala) single nucleotide variant Fanconi anemia [RCV002045372] ChrX:14864883 [GRCh38]
ChrX:14883005 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.834G>C (p.Gln278His) single nucleotide variant Fanconi anemia [RCV001929293] ChrX:14864677 [GRCh38]
ChrX:14882799 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001018113.3(FANCB):c.2329A>G (p.Ile777Val) single nucleotide variant Fanconi anemia [RCV001874248] ChrX:14843818 [GRCh38]
ChrX:14861940 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1251A>C (p.Lys417Asn) single nucleotide variant Fanconi anemia [RCV001988552] ChrX:14853114 [GRCh38]
ChrX:14871236 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2015T>C (p.Met672Thr) single nucleotide variant Fanconi anemia [RCV001946016] ChrX:14844653 [GRCh38]
ChrX:14862775 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1800A>G (p.Gln600=) single nucleotide variant Fanconi anemia [RCV001988079] ChrX:14844983 [GRCh38]
ChrX:14863105 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) single nucleotide variant FANCB-related disorder [RCV003978448]|Fanconi anemia [RCV001970490]|Fanconi anemia complementation group B [RCV002272548] ChrX:14853149 [GRCh38]
ChrX:14871271 [GRCh37]
ChrX:Xp22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn) single nucleotide variant Fanconi anemia [RCV002045580] ChrX:14859314 [GRCh38]
ChrX:14877436 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys) single nucleotide variant Fanconi anemia [RCV001909614] ChrX:14844528 [GRCh38]
ChrX:14862650 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.521G>A (p.Gly174Glu) single nucleotide variant Fanconi anemia [RCV001893056] ChrX:14864990 [GRCh38]
ChrX:14883112 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.245T>C (p.Val82Ala) single nucleotide variant Fanconi anemia [RCV002004081] ChrX:14865266 [GRCh38]
ChrX:14883388 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.2(chrX:14878636-14942042) copy number loss not specified [RCV002052780] ChrX:14878636..14942042 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val) single nucleotide variant Fanconi anemia [RCV001970417]|Fanconi anemia complementation group B [RCV005042620]|Inborn genetic diseases [RCV002569276] ChrX:14845113 [GRCh38]
ChrX:14863235 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1763T>C (p.Leu588Ser) single nucleotide variant Fanconi anemia [RCV001913636] ChrX:14845020 [GRCh38]
ChrX:14863142 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu) single nucleotide variant Fanconi anemia [RCV001910110]|Inborn genetic diseases [RCV002425233]|not specified [RCV002266058] ChrX:14843626 [GRCh38]
ChrX:14861748 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter) single nucleotide variant Fanconi anemia [RCV001910916] ChrX:14850564 [GRCh38]
ChrX:14868686 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) single nucleotide variant Fanconi anemia [RCV001969133]|Fanconi anemia complementation group B [RCV002484852] ChrX:14865205 [GRCh38]
ChrX:14883327 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) single nucleotide variant Fanconi anemia [RCV001927558]|Fanconi anemia complementation group B [RCV004555628] ChrX:14864730 [GRCh38]
ChrX:14882852 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely pathogenic
NM_001018113.3(FANCB):c.2218A>G (p.Ile740Val) single nucleotide variant Fanconi anemia [RCV001909115]|Inborn genetic diseases [RCV002555334] ChrX:14843929 [GRCh38]
ChrX:14862051 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr) single nucleotide variant Fanconi anemia [RCV001890956] ChrX:14864942 [GRCh38]
ChrX:14883064 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.2(chrX:14597341-15101123) copy number gain not specified [RCV002052779] ChrX:14597341..15101123 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1120T>C (p.Cys374Arg) single nucleotide variant Fanconi anemia [RCV001984252] ChrX:14857939 [GRCh38]
ChrX:14876061 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1610C>T (p.Ala537Val) single nucleotide variant Fanconi anemia [RCV002006367] ChrX:14845173 [GRCh38]
ChrX:14863295 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.722A>G (p.His241Arg) single nucleotide variant Fanconi anemia [RCV001909638] ChrX:14864789 [GRCh38]
ChrX:14882911 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.454T>C (p.Phe152Leu) single nucleotide variant Fanconi anemia [RCV001944521] ChrX:14865057 [GRCh38]
ChrX:14883179 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) single nucleotide variant Fanconi anemia [RCV001962514]|Fanconi anemia complementation group B [RCV002484659] ChrX:14845168 [GRCh38]
ChrX:14863290 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2020G>C (p.Val674Leu) single nucleotide variant Fanconi anemia [RCV001961882] ChrX:14844648 [GRCh38]
ChrX:14862770 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.814A>G (p.Thr272Ala) single nucleotide variant Fanconi anemia [RCV002039186] ChrX:14864697 [GRCh38]
ChrX:14882819 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1160G>A (p.Arg387His) single nucleotide variant Fanconi anemia [RCV001925471] ChrX:14857899 [GRCh38]
ChrX:14876021 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly) single nucleotide variant Fanconi anemia [RCV001941085] ChrX:14843776 [GRCh38]
ChrX:14861898 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.17C>A (p.Ala6Glu) single nucleotide variant Fanconi anemia [RCV001878630] ChrX:14865494 [GRCh38]
ChrX:14883616 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val) single nucleotide variant Fanconi anemia [RCV001937584]|Fanconi anemia complementation group B [RCV005005316] ChrX:14864601 [GRCh38]
ChrX:14882723 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) single nucleotide variant Fanconi anemia [RCV001916728]|Fanconi anemia complementation group B [RCV002484554]|Fanconi anemia complementation group B [RCV003146360] ChrX:14853048 [GRCh38]
ChrX:14871170 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1501C>G (p.Leu501Val) single nucleotide variant Fanconi anemia [RCV001936412] ChrX:14845282 [GRCh38]
ChrX:14863404 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1009G>A (p.Gly337Arg) single nucleotide variant Fanconi anemia [RCV001974307] ChrX:14859277 [GRCh38]
ChrX:14877399 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1323G>A (p.Glu441=) single nucleotide variant Fanconi anemia [RCV002048447] ChrX:14853042 [GRCh38]
ChrX:14871164 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg) single nucleotide variant Fanconi anemia [RCV001975607] ChrX:14845170 [GRCh38]
ChrX:14863292 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly) single nucleotide variant Fanconi anemia [RCV001864714] ChrX:14857954 [GRCh38]
ChrX:14876076 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1342C>A (p.Pro448Thr) single nucleotide variant Fanconi anemia [RCV001879571] ChrX:14850659 [GRCh38]
ChrX:14868781 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2331A>G (p.Ile777Met) single nucleotide variant FANCB-related disorder [RCV003892900]|Fanconi anemia [RCV001934510] ChrX:14843816 [GRCh38]
ChrX:14861938 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr) single nucleotide variant Fanconi anemia [RCV002026467] ChrX:14853047 [GRCh38]
ChrX:14871169 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.664G>A (p.Val222Ile) single nucleotide variant Fanconi anemia [RCV001976320] ChrX:14864847 [GRCh38]
ChrX:14882969 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala) single nucleotide variant Fanconi anemia [RCV001977267]|Inborn genetic diseases [RCV004976042] ChrX:14843974 [GRCh38]
ChrX:14862096 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr) single nucleotide variant Fanconi anemia [RCV001897727] ChrX:14865495 [GRCh38]
ChrX:14883617 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1159C>T (p.Arg387Cys) single nucleotide variant Fanconi anemia [RCV001933740] ChrX:14857900 [GRCh38]
ChrX:14876022 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1441C>T (p.Arg481Cys) single nucleotide variant Fanconi anemia [RCV002046931] ChrX:14850560 [GRCh38]
ChrX:14868682 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.526A>T (p.Ile176Phe) single nucleotide variant Fanconi anemia [RCV002011954] ChrX:14864985 [GRCh38]
ChrX:14883107 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile) single nucleotide variant Fanconi anemia [RCV001957927]|Fanconi anemia complementation group B [RCV005042563] ChrX:14865398 [GRCh38]
ChrX:14883520 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.203A>G (p.Lys68Arg) single nucleotide variant Fanconi anemia [RCV002035790] ChrX:14865308 [GRCh38]
ChrX:14883430 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) single nucleotide variant Fanconi anemia [RCV001876805]|Fanconi anemia complementation group B [RCV002482475] ChrX:14857929 [GRCh38]
ChrX:14876051 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2047G>A (p.Glu683Lys) single nucleotide variant Fanconi anemia [RCV001936452] ChrX:14844621 [GRCh38]
ChrX:14862743 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr) single nucleotide variant Fanconi anemia [RCV001959416] ChrX:14843719 [GRCh38]
ChrX:14861841 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.959C>A (p.Ala320Asp) single nucleotide variant Fanconi anemia [RCV001880850] ChrX:14859327 [GRCh38]
ChrX:14877449 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.484A>C (p.Ser162Arg) single nucleotide variant Fanconi anemia [RCV001952965] ChrX:14865027 [GRCh38]
ChrX:14883149 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu) single nucleotide variant Fanconi anemia [RCV001899201]|Fanconi anemia complementation group B [RCV005040447] ChrX:14865435 [GRCh38]
ChrX:14883557 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.662A>G (p.Glu221Gly) single nucleotide variant Fanconi anemia [RCV002027493] ChrX:14864849 [GRCh38]
ChrX:14882971 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.634T>C (p.Phe212Leu) single nucleotide variant Fanconi anemia [RCV002012985] ChrX:14864877 [GRCh38]
ChrX:14882999 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1326+16T>C single nucleotide variant Fanconi anemia [RCV002185965] ChrX:14853023 [GRCh38]
ChrX:14871145 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2517T>C (p.Thr839=) single nucleotide variant Fanconi anemia [RCV002127063] ChrX:14843630 [GRCh38]
ChrX:14861752 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1191A>G (p.Gly397=) single nucleotide variant Fanconi anemia [RCV002091412] ChrX:14857868 [GRCh38]
ChrX:14875990 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.667T>C (p.Leu223=) single nucleotide variant Fanconi anemia [RCV002208697] ChrX:14864844 [GRCh38]
ChrX:14882966 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser) single nucleotide variant Fanconi anemia [RCV005095736]|Fanconi anemia complementation group B [RCV002208735] ChrX:14845159 [GRCh38]
ChrX:14863281 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.111T>C (p.Pro37=) single nucleotide variant Fanconi anemia [RCV002124878] ChrX:14865400 [GRCh38]
ChrX:14883522 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.939A>G (p.Lys313=) single nucleotide variant FANCB-related disorder [RCV003941257]|Fanconi anemia [RCV002071174] ChrX:14864572 [GRCh38]
ChrX:14882694 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1566G>A (p.Lys522=) single nucleotide variant Fanconi anemia [RCV002105193] ChrX:14845217 [GRCh38]
ChrX:14863339 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.162A>G (p.Thr54=) single nucleotide variant Fanconi anemia [RCV002117042] ChrX:14865349 [GRCh38]
ChrX:14883471 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.414T>A (p.Asn138Lys) single nucleotide variant FANCB-related disorder [RCV003895870]|Fanconi anemia [RCV002076453] ChrX:14865097 [GRCh38]
ChrX:14883219 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1626A>G (p.Pro542=) single nucleotide variant Fanconi anemia [RCV002131130] ChrX:14845157 [GRCh38]
ChrX:14863279 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2554G>A (p.Ala852Thr) single nucleotide variant Fanconi anemia [RCV002131582] ChrX:14843593 [GRCh38]
ChrX:14861715 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1924A>G (p.Ile642Val) single nucleotide variant Fanconi anemia [RCV002151701] ChrX:14844859 [GRCh38]
ChrX:14862981 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1314A>C (p.Ser438=) single nucleotide variant Fanconi anemia [RCV002097720] ChrX:14853051 [GRCh38]
ChrX:14871173 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.931-19G>C single nucleotide variant not provided [RCV001824491] ChrX:14690691 [GRCh38]
ChrX:14708813 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.2433C>G (p.Pro811=) single nucleotide variant Fanconi anemia [RCV002167650] ChrX:14843714 [GRCh38]
ChrX:14861836 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2391C>G (p.Val797=) single nucleotide variant Fanconi anemia [RCV002212135] ChrX:14843756 [GRCh38]
ChrX:14861878 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2391C>T (p.Val797=) single nucleotide variant Fanconi anemia [RCV002131546] ChrX:14843756 [GRCh38]
ChrX:14861878 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.2241A>C (p.Leu747=) single nucleotide variant Fanconi anemia [RCV002211610] ChrX:14843906 [GRCh38]
ChrX:14862028 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1928-20G>T single nucleotide variant Fanconi anemia [RCV002215610] ChrX:14844760 [GRCh38]
ChrX:14862882 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1149A>G (p.Lys383=) single nucleotide variant Fanconi anemia [RCV002193351] ChrX:14857910 [GRCh38]
ChrX:14876032 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1197+11G>A single nucleotide variant Fanconi anemia [RCV002179607] ChrX:14857851 [GRCh38]
ChrX:14875973 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2563A>G (p.Lys855Glu) single nucleotide variant Fanconi anemia [RCV002160362] ChrX:14843584 [GRCh38]
ChrX:14861706 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1327-19_1327-16del deletion Fanconi anemia [RCV002100582] ChrX:14850690..14850693 [GRCh38]
ChrX:14868812..14868815 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.-191-13C>T single nucleotide variant Fanconi anemia [RCV002257248] ChrX:14869056 [GRCh38]
ChrX:14887178 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) single nucleotide variant Fanconi anemia [RCV002154419]|Fanconi anemia complementation group B [RCV002494483] ChrX:14843762 [GRCh38]
ChrX:14861884 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1970A>G (p.Lys657Arg) single nucleotide variant Fanconi anemia [RCV002100752] ChrX:14844698 [GRCh38]
ChrX:14862820 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.990A>T (p.Ile330=) single nucleotide variant Fanconi anemia [RCV002141970] ChrX:14859296 [GRCh38]
ChrX:14877418 [GRCh37]
ChrX:Xp22.2		 likely benign
NC_000023.10:g.(?_14861528)_(14891192_?)dup duplication not specified [RCV002223016] ChrX:14861528..14891192 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.885A>G (p.Gly295=) single nucleotide variant Fanconi anemia [RCV002159040] ChrX:14864626 [GRCh38]
ChrX:14882748 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1992A>T (p.Ser664=) single nucleotide variant Fanconi anemia [RCV002103605] ChrX:14844676 [GRCh38]
ChrX:14862798 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1746A>G (p.Thr582=) single nucleotide variant Fanconi anemia [RCV002120042] ChrX:14845037 [GRCh38]
ChrX:14863159 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1197+13_1197+15del deletion Fanconi anemia [RCV002156526] ChrX:14857847..14857849 [GRCh38]
ChrX:14875969..14875971 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1080G>C (p.Thr360=) single nucleotide variant Fanconi anemia [RCV002219471] ChrX:14859206 [GRCh38]
ChrX:14877328 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2439A>G (p.Arg813=) single nucleotide variant Fanconi anemia [RCV003111151] ChrX:14843708 [GRCh38]
ChrX:14861830 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1104G>A (p.Ser368=) single nucleotide variant Fanconi anemia [RCV003117333] ChrX:14859182 [GRCh38]
ChrX:14877304 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_14861689)_(14891184_?)del deletion Fanconi anemia [RCV003122306] ChrX:14861689..14891184 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_14875974)_(14891184_?)del deletion Fanconi anemia [RCV003122307] ChrX:14875974..14891184 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_14861689)_(14877476_?)dup duplication Fanconi anemia [RCV003122308] ChrX:14861689..14877476 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_14861689)_(15870650_?)del deletion Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003122594] ChrX:14861689..15870650 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_001018113.3(FANCB):c.647C>G (p.Ser216Cys) single nucleotide variant Fanconi anemia [RCV003122076] ChrX:14864864 [GRCh38]
ChrX:14882986 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1327-11_1327-10insC insertion Fanconi anemia [RCV002257245] ChrX:14850684..14850685 [GRCh38]
ChrX:14868806..14868807 [GRCh37]
ChrX:Xp22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001018113.3(FANCB):c.1383T>C (p.Asp461=) single nucleotide variant Fanconi anemia [RCV002257246] ChrX:14850618 [GRCh38]
ChrX:14868740 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys) single nucleotide variant Fanconi anemia [RCV002259228] ChrX:14843617 [GRCh38]
ChrX:14861739 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.124A>G (p.Ile42Val) single nucleotide variant Fanconi anemia [RCV002257244] ChrX:14865387 [GRCh38]
ChrX:14883509 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1049G>T (p.Arg350Leu) single nucleotide variant Intellectual developmental disorder, X-linked, syndromic, Pilorge type [RCV002248345] ChrX:14690828 [GRCh38]
ChrX:14708950 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_001018113.3(FANCB):c.647C>T (p.Ser216Phe) single nucleotide variant not provided [RCV003237035] ChrX:14864864 [GRCh38]
ChrX:14882986 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_001018113.3(FANCB):c.230T>C (p.Met77Thr) single nucleotide variant not specified [RCV002266300] ChrX:14865281 [GRCh38]
ChrX:14883403 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1048C>T (p.Arg350Cys) single nucleotide variant Inborn genetic diseases [RCV003096373]|Intellectual developmental disorder, X-linked, syndromic, Pilorge type [RCV002283718]|not provided [RCV003326624] ChrX:14690827 [GRCh38]
ChrX:14708949 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile) single nucleotide variant Fanconi anemia [RCV002303185] ChrX:14859222 [GRCh38]
ChrX:14877344 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser) single nucleotide variant Fanconi anemia [RCV003015537] ChrX:14844918 [GRCh38]
ChrX:14863040 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr) single nucleotide variant Fanconi anemia [RCV002904772]|not provided [RCV003435838] ChrX:14859309 [GRCh38]
ChrX:14877431 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.123C>T (p.Pro41=) single nucleotide variant Fanconi anemia [RCV002881638] ChrX:14865388 [GRCh38]
ChrX:14883510 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.1081-5G>A single nucleotide variant Inborn genetic diseases [RCV002751828] ChrX:14730202 [GRCh38]
ChrX:14748324 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala) single nucleotide variant Fanconi anemia [RCV003099068] ChrX:14843632 [GRCh38]
ChrX:14861754 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.2(chrX:14644702-15779774)x3 copy number gain not provided [RCV002475875] ChrX:14644702..15779774 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1496+16C>A single nucleotide variant Fanconi anemia [RCV003076584] ChrX:14850489 [GRCh38]
ChrX:14868611 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1683G>A (p.Glu561=) single nucleotide variant Fanconi anemia [RCV003074325] ChrX:14845100 [GRCh38]
ChrX:14863222 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.30C>T (p.Asn10=) single nucleotide variant Fanconi anemia [RCV002755959] ChrX:14865481 [GRCh38]
ChrX:14883603 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.445G>A (p.Ala149Thr) single nucleotide variant Fanconi anemia [RCV003073742] ChrX:14865066 [GRCh38]
ChrX:14883188 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.501T>C (p.Phe167=) single nucleotide variant Fanconi anemia [RCV002882085] ChrX:14865010 [GRCh38]
ChrX:14883132 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.931-18TC[7] microsatellite Inborn genetic diseases [RCV002727950] ChrX:14690692..14690693 [GRCh38]
ChrX:14708814..14708815 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1197+8T>C single nucleotide variant Fanconi anemia [RCV002786024] ChrX:14857854 [GRCh38]
ChrX:14875976 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.417C>G (p.Gly139=) single nucleotide variant Fanconi anemia [RCV002889564] ChrX:14865094 [GRCh38]
ChrX:14883216 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2165G>T (p.Arg722Met) single nucleotide variant Fanconi anemia [RCV002953504] ChrX:14844503 [GRCh38]
ChrX:14862625 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2020G>A (p.Val674Met) single nucleotide variant Fanconi anemia [RCV003077704] ChrX:14844648 [GRCh38]
ChrX:14862770 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met) single nucleotide variant Fanconi anemia [RCV002847635] ChrX:14857867 [GRCh38]
ChrX:14875989 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1521A>G (p.Ser507=) single nucleotide variant Fanconi anemia [RCV002886089] ChrX:14845262 [GRCh38]
ChrX:14863384 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.699C>T (p.Tyr233=) single nucleotide variant Fanconi anemia [RCV002636640] ChrX:14864812 [GRCh38]
ChrX:14882934 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1010G>A (p.Gly337Glu) single nucleotide variant Fanconi anemia [RCV003037732] ChrX:14859276 [GRCh38]
ChrX:14877398 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.795G>T (p.Leu265=) single nucleotide variant Fanconi anemia [RCV002622685] ChrX:14864716 [GRCh38]
ChrX:14882838 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.192T>C (p.Phe64=) single nucleotide variant Fanconi anemia [RCV003000146] ChrX:14865319 [GRCh38]
ChrX:14883441 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala) single nucleotide variant Fanconi anemia [RCV002979737] ChrX:14865042 [GRCh38]
ChrX:14883164 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.952-14T>C single nucleotide variant Fanconi anemia [RCV002638149] ChrX:14859348 [GRCh38]
ChrX:14877470 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.1259C>T (p.Thr420Met) single nucleotide variant Inborn genetic diseases [RCV002925630] ChrX:14730385 [GRCh38]
ChrX:14748507 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.468A>G (p.Gln156=) single nucleotide variant Fanconi anemia [RCV002870784] ChrX:14865043 [GRCh38]
ChrX:14883165 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.381C>T (p.Gly127=) single nucleotide variant Fanconi anemia [RCV003077649] ChrX:14865130 [GRCh38]
ChrX:14883252 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.906C>T (p.Ser302=) single nucleotide variant Fanconi anemia [RCV002866433] ChrX:14864605 [GRCh38]
ChrX:14882727 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1300GAT[1] (p.Asp435del) microsatellite Fanconi anemia [RCV002797255] ChrX:14853060..14853062 [GRCh38]
ChrX:14871182..14871184 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1620G>A (p.Leu540=) single nucleotide variant Fanconi anemia [RCV002913991] ChrX:14845163 [GRCh38]
ChrX:14863285 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1219G>A (p.Glu407Lys) single nucleotide variant Inborn genetic diseases [RCV002757533] ChrX:14853146 [GRCh38]
ChrX:14871268 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.537A>C (p.Leu179Phe) single nucleotide variant Inborn genetic diseases [RCV002692634] ChrX:14864974 [GRCh38]
ChrX:14883096 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.300A>G (p.Lys100=) single nucleotide variant Fanconi anemia [RCV002570271] ChrX:14865211 [GRCh38]
ChrX:14883333 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.38A>C (p.Glu13Ala) single nucleotide variant Inborn genetic diseases [RCV002884494] ChrX:14865473 [GRCh38]
ChrX:14883595 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.560A>G (p.Lys187Arg) single nucleotide variant Fanconi anemia [RCV002933419] ChrX:14864951 [GRCh38]
ChrX:14883073 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.63A>C (p.Glu21Asp) single nucleotide variant Inborn genetic diseases [RCV002873384] ChrX:14865448 [GRCh38]
ChrX:14883570 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2575T>C (p.Leu859=) single nucleotide variant Fanconi anemia [RCV002805606] ChrX:14843572 [GRCh38]
ChrX:14861694 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.659A>G (p.Gln220Arg) single nucleotide variant Fanconi anemia [RCV002623435] ChrX:14864852 [GRCh38]
ChrX:14882974 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.591T>G (p.Thr197=) single nucleotide variant Fanconi anemia [RCV002766319] ChrX:14864920 [GRCh38]
ChrX:14883042 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg) single nucleotide variant Fanconi anemia [RCV002801058] ChrX:14857952 [GRCh38]
ChrX:14876074 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe) single nucleotide variant Fanconi anemia [RCV002917257]|Fanconi anemia complementation group B [RCV003485796] ChrX:14865240 [GRCh38]
ChrX:14883362 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2275A>G (p.Met759Val) single nucleotide variant Fanconi anemia [RCV002891144] ChrX:14843872 [GRCh38]
ChrX:14861994 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1326+13A>G single nucleotide variant Fanconi anemia [RCV002741992] ChrX:14853026 [GRCh38]
ChrX:14871148 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.2165+18G>A single nucleotide variant Fanconi anemia [RCV002983127] ChrX:14844485 [GRCh38]
ChrX:14862607 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2021T>C (p.Val674Ala) single nucleotide variant Fanconi anemia [RCV003083587] ChrX:14844647 [GRCh38]
ChrX:14862769 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr) single nucleotide variant Fanconi anemia [RCV003083022] ChrX:14853109 [GRCh38]
ChrX:14871231 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.53A>T (p.Tyr18Phe) single nucleotide variant Fanconi anemia [RCV002625020] ChrX:14865458 [GRCh38]
ChrX:14883580 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp) single nucleotide variant Fanconi anemia [RCV002928423]|Fanconi anemia complementation group B [RCV005045078] ChrX:14865017 [GRCh38]
ChrX:14883139 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2238T>C (p.Asn746=) single nucleotide variant Fanconi anemia [RCV002928449] ChrX:14843909 [GRCh38]
ChrX:14862031 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2139C>T (p.Phe713=) single nucleotide variant Fanconi anemia [RCV002644544] ChrX:14844529 [GRCh38]
ChrX:14862651 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu) single nucleotide variant Fanconi anemia [RCV002894330] ChrX:14865358 [GRCh38]
ChrX:14883480 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2404T>C (p.Leu802=) single nucleotide variant Fanconi anemia [RCV002894366] ChrX:14843743 [GRCh38]
ChrX:14861865 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala) single nucleotide variant Fanconi anemia [RCV002741573]|Fanconi anemia complementation group B [RCV005044963] ChrX:14865393 [GRCh38]
ChrX:14883515 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2396C>T (p.Ala799Val) single nucleotide variant Inborn genetic diseases [RCV002792460] ChrX:14843751 [GRCh38]
ChrX:14861873 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1542T>C (p.His514=) single nucleotide variant Fanconi anemia [RCV002941891] ChrX:14845241 [GRCh38]
ChrX:14863363 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1611A>G (p.Ala537=) single nucleotide variant Fanconi anemia [RCV003092152] ChrX:14845172 [GRCh38]
ChrX:14863294 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1840T>C (p.Tyr614His) single nucleotide variant Fanconi anemia [RCV002922095] ChrX:14844943 [GRCh38]
ChrX:14863065 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys) single nucleotide variant Fanconi anemia [RCV002967325]|Fanconi anemia complementation group B [RCV005045120]|Inborn genetic diseases [RCV004068318] ChrX:14865470 [GRCh38]
ChrX:14883592 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.2166-14T>C single nucleotide variant Fanconi anemia [RCV002602529] ChrX:14843995 [GRCh38]
ChrX:14862117 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1198-3C>T single nucleotide variant Fanconi anemia [RCV002898614] ChrX:14853170 [GRCh38]
ChrX:14871292 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1496+14A>G single nucleotide variant Fanconi anemia [RCV002962525] ChrX:14850491 [GRCh38]
ChrX:14868613 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1326+7del deletion Fanconi anemia [RCV003009171] ChrX:14853032 [GRCh38]
ChrX:14871154 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly) single nucleotide variant Fanconi anemia [RCV002899538]|not provided [RCV004779373] ChrX:14864730 [GRCh38]
ChrX:14882852 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1927+9del deletion Fanconi anemia [RCV002810369] ChrX:14844847 [GRCh38]
ChrX:14862969 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1927+8T>A single nucleotide variant Fanconi anemia [RCV002792138] ChrX:14844848 [GRCh38]
ChrX:14862970 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1765A>G (p.Thr589Ala) single nucleotide variant Fanconi anemia [RCV002937140] ChrX:14845018 [GRCh38]
ChrX:14863140 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1726C>G (p.Gln576Glu) single nucleotide variant Fanconi anemia [RCV003090486] ChrX:14845057 [GRCh38]
ChrX:14863179 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.554G>T (p.Gly185Val) single nucleotide variant Fanconi anemia [RCV003060369] ChrX:14864957 [GRCh38]
ChrX:14883079 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1694T>C (p.Val565Ala) single nucleotide variant Fanconi anemia [RCV002791825] ChrX:14845089 [GRCh38]
ChrX:14863211 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1654G>T (p.Val552Phe) single nucleotide variant Fanconi anemia [RCV002650703] ChrX:14845129 [GRCh38]
ChrX:14863251 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2035C>T (p.His679Tyr) single nucleotide variant Fanconi anemia [RCV003009234] ChrX:14844633 [GRCh38]
ChrX:14862755 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2195A>G (p.His732Arg) single nucleotide variant Fanconi anemia [RCV003086359]|Fanconi anemia complementation group B [RCV005045283] ChrX:14843952 [GRCh38]
ChrX:14862074 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr) single nucleotide variant Fanconi anemia [RCV003060828] ChrX:14843919 [GRCh38]
ChrX:14862041 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser) single nucleotide variant Fanconi anemia [RCV003065437]|Fanconi anemia complementation group B [RCV003143463] ChrX:14857882 [GRCh38]
ChrX:14876004 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr) single nucleotide variant Fanconi anemia [RCV002922551] ChrX:14843928 [GRCh38]
ChrX:14862050 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2496T>A (p.Gly832=) single nucleotide variant Fanconi anemia [RCV002599212] ChrX:14843651 [GRCh38]
ChrX:14861773 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.229A>G (p.Met77Val) single nucleotide variant Fanconi anemia [RCV002654412] ChrX:14865282 [GRCh38]
ChrX:14883404 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.508A>C (p.Ile170Leu) single nucleotide variant Fanconi anemia complementation group B [RCV005051507]|Inborn genetic diseases [RCV004977622] ChrX:14865003 [GRCh38]
ChrX:14883125 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2248G>A (p.Gly750Arg) single nucleotide variant Fanconi anemia complementation group B [RCV005051508]|Inborn genetic diseases [RCV004977623] ChrX:14843899 [GRCh38]
ChrX:14862021 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1928-5dup duplication Fanconi anemia [RCV002584240] ChrX:14844744..14844745 [GRCh38]
ChrX:14862866..14862867 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu) single nucleotide variant Fanconi anemia [RCV002582221] ChrX:14853122 [GRCh38]
ChrX:14871244 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.331A>G (p.Ile111Val) single nucleotide variant Fanconi anemia [RCV002654539] ChrX:14865180 [GRCh38]
ChrX:14883302 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.64G>A (p.Val22Ile) single nucleotide variant Fanconi anemia [RCV002658359]|Inborn genetic diseases [RCV004066728] ChrX:14865447 [GRCh38]
ChrX:14883569 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1727A>G (p.Gln576Arg) single nucleotide variant Fanconi anemia [RCV003068428] ChrX:14845056 [GRCh38]
ChrX:14863178 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.506C>T (p.Ser169Phe) single nucleotide variant Fanconi anemia [RCV003070433] ChrX:14865005 [GRCh38]
ChrX:14883127 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.952-19A>G single nucleotide variant Fanconi anemia [RCV003050752] ChrX:14859353 [GRCh38]
ChrX:14877475 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1428G>A (p.Glu476=) single nucleotide variant Fanconi anemia [RCV003051375] ChrX:14850573 [GRCh38]
ChrX:14868695 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.439G>A (p.Val147Ile) single nucleotide variant Fanconi anemia [RCV003073431] ChrX:14865072 [GRCh38]
ChrX:14883194 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1234C>T (p.Leu412=) single nucleotide variant Fanconi anemia [RCV002608006] ChrX:14853131 [GRCh38]
ChrX:14871253 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1326+13_1326+14del deletion Fanconi anemia [RCV003073122] ChrX:14853025..14853026 [GRCh38]
ChrX:14871147..14871148 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2397G>A (p.Ala799=) single nucleotide variant Fanconi anemia [RCV002612535] ChrX:14843750 [GRCh38]
ChrX:14861872 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1091A>G (p.Lys364Arg) single nucleotide variant Inborn genetic diseases [RCV003205445] ChrX:14859195 [GRCh38]
ChrX:14877317 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val) single nucleotide variant Fanconi anemia [RCV003636001]|Fanconi anemia complementation group B [RCV003147172] ChrX:14844615 [GRCh38]
ChrX:14862737 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg) single nucleotide variant Fanconi anemia complementation group B [RCV003147173] ChrX:14843774 [GRCh38]
ChrX:14861896 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.952G>A (p.Val318Ile) single nucleotide variant FANCB-related disorder [RCV003418970] ChrX:14859334 [GRCh38]
ChrX:14877456 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.912A>G (p.Ile304Met) single nucleotide variant FANCB-related disorder [RCV004750374]|Fanconi anemia [RCV005104189]|Inborn genetic diseases [RCV003385646] ChrX:14864599 [GRCh38]
ChrX:14882721 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.972del (p.Lys324fs) deletion Fanconi anemia complementation group B [RCV003333679] ChrX:14859314 [GRCh38]
ChrX:14877436 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_002063.4(GLRA2):c.1108T>C (p.Phe370Leu) single nucleotide variant Intellectual developmental disorder, X-linked, syndromic, Pilorge type [RCV004577112] ChrX:14730234 [GRCh38]
ChrX:14748356 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1928-6_1928-5del deletion Fanconi anemia [RCV003524603] ChrX:14844745..14844746 [GRCh38]
ChrX:14862867..14862868 [GRCh37]
ChrX:Xp22.2		 benign
NM_002063.4(GLRA2):c.1099G>C (p.Glu367Gln) single nucleotide variant not provided [RCV003543487] ChrX:14730225 [GRCh38]
ChrX:14748347 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2214C>G (p.Leu738=) single nucleotide variant Fanconi anemia [RCV003874048] ChrX:14843933 [GRCh38]
ChrX:14862055 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly) single nucleotide variant Fanconi anemia [RCV003874127] ChrX:14843941 [GRCh38]
ChrX:14862063 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.417C>A (p.Gly139=) single nucleotide variant Fanconi anemia [RCV003874864] ChrX:14865094 [GRCh38]
ChrX:14883216 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.951+19T>C single nucleotide variant Fanconi anemia [RCV003874961] ChrX:14864541 [GRCh38]
ChrX:14882663 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001410764.1(FANCB):c.2654G>A (p.Trp885Ter) single nucleotide variant not provided [RCV003441029] ChrX:14796872 [GRCh38]
ChrX:14814994 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2 copy number gain not provided [RCV003483939] ChrX:168547..30774453 [GRCh37]
ChrX:Xp22.33-21.2		 pathogenic
NM_002063.4(GLRA2):c.1350C>G (p.His450Gln) single nucleotide variant not provided [RCV003441028] ChrX:14730476 [GRCh38]
ChrX:14748598 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1701A>G (p.Glu567=) single nucleotide variant Fanconi anemia [RCV003778450]|not provided [RCV003441030] ChrX:14845082 [GRCh38]
ChrX:14863204 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.850C>G (p.Pro284Ala) single nucleotide variant not provided [RCV003441031] ChrX:14864661 [GRCh38]
ChrX:14882783 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.304A>G (p.Asn102Asp) single nucleotide variant FANCB-related disorder [RCV003399681]|Fanconi anemia [RCV005104299]|Inborn genetic diseases [RCV004362783] ChrX:14865207 [GRCh38]
ChrX:14883329 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.851del (p.Pro284fs) deletion FANCB-related disorder [RCV003416674]|Fanconi anemia [RCV003523168] ChrX:14864660 [GRCh38]
ChrX:14882782 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely pathogenic
NM_001018113.3(FANCB):c.25T>C (p.Ser9Pro) single nucleotide variant not provided [RCV003457178] ChrX:14865486 [GRCh38]
ChrX:14883608 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.419C>T (p.Pro140Leu) single nucleotide variant FANCB-related disorder [RCV003416877]|Fanconi anemia [RCV003636015] ChrX:14865092 [GRCh38]
ChrX:14883214 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1221C>G (p.Ile407Met) single nucleotide variant GLRA2-related disorder [RCV003410589] ChrX:14730347 [GRCh38]
ChrX:14748469 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1837C>G (p.Arg613Gly) single nucleotide variant FANCB-related disorder [RCV003403105]|Fanconi anemia [RCV005099995] ChrX:14844946 [GRCh38]
ChrX:14863068 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1105-2A>G single nucleotide variant FANCB-related disorder [RCV003402801] ChrX:14857956 [GRCh38]
ChrX:14876078 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys) single nucleotide variant Fanconi anemia [RCV005100159]|Fanconi anemia complementation group B [RCV003460177] ChrX:14865428 [GRCh38]
ChrX:14883550 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2322T>G (p.Ser774=) single nucleotide variant Fanconi anemia [RCV003524943] ChrX:14843825 [GRCh38]
ChrX:14861947 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2229C>T (p.Phe743=) single nucleotide variant Fanconi anemia [RCV003524956] ChrX:14843918 [GRCh38]
ChrX:14862040 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu) single nucleotide variant Fanconi anemia [RCV003877096] ChrX:14843662 [GRCh38]
ChrX:14861784 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu) single nucleotide variant Fanconi anemia [RCV003525198] ChrX:14844529 [GRCh38]
ChrX:14862651 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1212T>G (p.Ser404=) single nucleotide variant Fanconi anemia [RCV003525342] ChrX:14853153 [GRCh38]
ChrX:14871275 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser) single nucleotide variant Fanconi anemia [RCV003881923] ChrX:14845269 [GRCh38]
ChrX:14863391 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.720A>G (p.Val240=) single nucleotide variant Fanconi anemia [RCV003830645] ChrX:14864791 [GRCh38]
ChrX:14882913 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly) single nucleotide variant Fanconi anemia [RCV003830358]|Fanconi anemia complementation group B [RCV005040543] ChrX:14853061 [GRCh38]
ChrX:14871183 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.207A>G (p.Glu69=) single nucleotide variant Fanconi anemia [RCV003525062] ChrX:14865304 [GRCh38]
ChrX:14883426 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1579G>A (p.Val527Met) single nucleotide variant Fanconi anemia [RCV003524976] ChrX:14845204 [GRCh38]
ChrX:14863326 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1928-5del deletion Fanconi anemia [RCV003525163] ChrX:14844745 [GRCh38]
ChrX:14862867 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1080G>A (p.Thr360=) single nucleotide variant Fanconi anemia [RCV003829537] ChrX:14859206 [GRCh38]
ChrX:14877328 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1369G>A (p.Val457Ile) single nucleotide variant Fanconi anemia [RCV003875815] ChrX:14850632 [GRCh38]
ChrX:14868754 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1167G>T (p.Leu389=) single nucleotide variant Fanconi anemia [RCV003524658] ChrX:14857892 [GRCh38]
ChrX:14876014 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.480T>A (p.Val160=) single nucleotide variant Fanconi anemia [RCV003525164] ChrX:14865031 [GRCh38]
ChrX:14883153 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg) single nucleotide variant Fanconi anemia [RCV003524731] ChrX:14865212 [GRCh38]
ChrX:14883334 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1327-10T>A single nucleotide variant Fanconi anemia [RCV003525221] ChrX:14850684 [GRCh38]
ChrX:14868806 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.434G>C (p.Arg145Thr) single nucleotide variant Fanconi anemia [RCV003524573] ChrX:14865077 [GRCh38]
ChrX:14883199 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.153C>T (p.Asp51=) single nucleotide variant Fanconi anemia [RCV003524890] ChrX:14865358 [GRCh38]
ChrX:14883480 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.378A>G (p.Leu126=) single nucleotide variant Fanconi anemia [RCV003524954] ChrX:14865133 [GRCh38]
ChrX:14883255 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.951G>T (p.Gln317His) single nucleotide variant Fanconi anemia [RCV003523292] ChrX:14864560 [GRCh38]
ChrX:14882682 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.41G>C (p.Arg14Thr) single nucleotide variant Fanconi anemia [RCV003524336] ChrX:14865470 [GRCh38]
ChrX:14883592 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.23C>T (p.Ser8Leu) single nucleotide variant Fanconi anemia [RCV003523380] ChrX:14865488 [GRCh38]
ChrX:14883610 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1182A>G (p.Leu394=) single nucleotide variant Fanconi anemia [RCV003523406] ChrX:14857877 [GRCh38]
ChrX:14875999 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2166-8del deletion Fanconi anemia [RCV003522137] ChrX:14843989 [GRCh38]
ChrX:14862111 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.2201TCA[1] (p.Ile735del) microsatellite Fanconi anemia [RCV003522235] ChrX:14843941..14843943 [GRCh38]
ChrX:14862063..14862065 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly) single nucleotide variant Fanconi anemia [RCV003834050] ChrX:14845234 [GRCh38]
ChrX:14863356 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.773C>T (p.Ala258Val) single nucleotide variant Fanconi anemia [RCV003522179] ChrX:14864738 [GRCh38]
ChrX:14882860 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2565A>G (p.Lys855=) single nucleotide variant Fanconi anemia [RCV003523592] ChrX:14843582 [GRCh38]
ChrX:14861704 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1134C>T (p.Asp378=) single nucleotide variant Fanconi anemia [RCV003523555] ChrX:14857925 [GRCh38]
ChrX:14876047 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.852T>C (p.Pro284=) single nucleotide variant Fanconi anemia [RCV003523627] ChrX:14864659 [GRCh38]
ChrX:14882781 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val) single nucleotide variant Fanconi anemia [RCV003835525]|Inborn genetic diseases [RCV004366844] ChrX:14845024 [GRCh38]
ChrX:14863146 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_001018113.3(FANCB):c.2091G>A (p.Pro697=) single nucleotide variant FANCB-related disorder [RCV003946698]|Fanconi anemia [RCV003522413] ChrX:14844577 [GRCh38]
ChrX:14862699 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala) single nucleotide variant Fanconi anemia [RCV003523751] ChrX:14843856 [GRCh38]
ChrX:14861978 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1496+18dup duplication Fanconi anemia [RCV003522521] ChrX:14850486..14850487 [GRCh38]
ChrX:14868608..14868609 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1104+11T>C single nucleotide variant Fanconi anemia [RCV003522557] ChrX:14859171 [GRCh38]
ChrX:14877293 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1104+20_1104+22del microsatellite Fanconi anemia [RCV003522603] ChrX:14859160..14859162 [GRCh38]
ChrX:14877282..14877284 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.49T>C (p.Cys17Arg) single nucleotide variant Fanconi anemia [RCV003635814] ChrX:14865462 [GRCh38]
ChrX:14883584 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.447A>T (p.Ala149=) single nucleotide variant Fanconi anemia [RCV003522497] ChrX:14865064 [GRCh38]
ChrX:14883186 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1062G>A (p.Leu354=) single nucleotide variant Fanconi anemia [RCV003523779] ChrX:14859224 [GRCh38]
ChrX:14877346 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys) single nucleotide variant Fanconi anemia [RCV003637045] ChrX:14843924 [GRCh38]
ChrX:14862046 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn) single nucleotide variant Fanconi anemia [RCV003637058] ChrX:14844996 [GRCh38]
ChrX:14863118 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.360G>A (p.Met120Ile) single nucleotide variant Fanconi anemia [RCV003636379] ChrX:14865151 [GRCh38]
ChrX:14883273 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2520G>A (p.Leu840=) single nucleotide variant Fanconi anemia [RCV003636380] ChrX:14843627 [GRCh38]
ChrX:14861749 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1105-7T>G single nucleotide variant Fanconi anemia [RCV003636069] ChrX:14857961 [GRCh38]
ChrX:14876083 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2165+6G>A single nucleotide variant Fanconi anemia [RCV003636416] ChrX:14844497 [GRCh38]
ChrX:14862619 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.951+13T>C single nucleotide variant Fanconi anemia [RCV003636213] ChrX:14864547 [GRCh38]
ChrX:14882669 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.615T>C (p.Tyr205=) single nucleotide variant Fanconi anemia [RCV003637091] ChrX:14864896 [GRCh38]
ChrX:14883018 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2361G>A (p.Arg787=) single nucleotide variant Fanconi anemia [RCV003636449] ChrX:14843786 [GRCh38]
ChrX:14861908 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1496+10T>C single nucleotide variant Fanconi anemia [RCV003636287] ChrX:14850495 [GRCh38]
ChrX:14868617 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1617C>T (p.Tyr539=) single nucleotide variant Fanconi anemia [RCV003836985] ChrX:14845166 [GRCh38]
ChrX:14863288 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.795G>A (p.Leu265=) single nucleotide variant Fanconi anemia [RCV003524465] ChrX:14864716 [GRCh38]
ChrX:14882838 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2301A>G (p.Leu767=) single nucleotide variant Fanconi anemia [RCV003637138] ChrX:14843846 [GRCh38]
ChrX:14861968 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.666A>G (p.Val222=) single nucleotide variant Fanconi anemia [RCV003522721] ChrX:14864845 [GRCh38]
ChrX:14882967 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1896C>T (p.Tyr632=) single nucleotide variant Fanconi anemia [RCV003636826] ChrX:14844887 [GRCh38]
ChrX:14863009 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2328C>T (p.Ala776=) single nucleotide variant Fanconi anemia [RCV003522171] ChrX:14843819 [GRCh38]
ChrX:14861941 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2100C>T (p.Phe700=) single nucleotide variant Fanconi anemia [RCV003523491] ChrX:14844568 [GRCh38]
ChrX:14862690 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1373A>G (p.His458Arg) single nucleotide variant Fanconi anemia [RCV003636838] ChrX:14850628 [GRCh38]
ChrX:14868750 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.864A>G (p.Gln288=) single nucleotide variant Fanconi anemia [RCV003523514] ChrX:14864647 [GRCh38]
ChrX:14882769 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr) single nucleotide variant Fanconi anemia [RCV003636867] ChrX:14843752 [GRCh38]
ChrX:14861874 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2330T>C (p.Ile777Thr) single nucleotide variant Fanconi anemia [RCV003524060] ChrX:14843817 [GRCh38]
ChrX:14861939 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2214C>A (p.Leu738=) single nucleotide variant Fanconi anemia [RCV003636902] ChrX:14843933 [GRCh38]
ChrX:14862055 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg) single nucleotide variant Fanconi anemia [RCV003635855]|Fanconi anemia complementation group B [RCV005047802] ChrX:14865434 [GRCh38]
ChrX:14883556 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr) single nucleotide variant Fanconi anemia [RCV003636644] ChrX:14865050 [GRCh38]
ChrX:14883172 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1927+13G>C single nucleotide variant Fanconi anemia [RCV003523504] ChrX:14844843 [GRCh38]
ChrX:14862965 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1068A>G (p.Ser356=) single nucleotide variant Fanconi anemia [RCV003522350] ChrX:14859218 [GRCh38]
ChrX:14877340 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs) deletion Fanconi anemia [RCV003523631] ChrX:14865053..14865056 [GRCh38]
ChrX:14883175..14883178 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_001018113.3(FANCB):c.987G>C (p.Leu329=) single nucleotide variant Fanconi anemia [RCV003524165] ChrX:14859299 [GRCh38]
ChrX:14877421 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1578G>T (p.Arg526Ser) single nucleotide variant Fanconi anemia [RCV003637359] ChrX:14845205 [GRCh38]
ChrX:14863327 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1872A>C (p.Leu624=) single nucleotide variant Fanconi anemia [RCV003636734] ChrX:14844911 [GRCh38]
ChrX:14863033 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2353A>G (p.Met785Val) single nucleotide variant Fanconi anemia [RCV003637000] ChrX:14843794 [GRCh38]
ChrX:14861916 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1497-18del deletion Fanconi anemia [RCV003637219] ChrX:14845304 [GRCh38]
ChrX:14863426 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile) single nucleotide variant Fanconi anemia [RCV003856046] ChrX:14843925 [GRCh38]
ChrX:14862047 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1581G>T (p.Val527=) single nucleotide variant Fanconi anemia [RCV003524393] ChrX:14845202 [GRCh38]
ChrX:14863324 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.447A>G (p.Ala149=) single nucleotide variant Fanconi anemia [RCV003636846] ChrX:14865064 [GRCh38]
ChrX:14883186 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1105-5A>G single nucleotide variant Fanconi anemia [RCV003524518] ChrX:14857959 [GRCh38]
ChrX:14876081 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr) single nucleotide variant Fanconi anemia [RCV003636859] ChrX:14850608 [GRCh38]
ChrX:14868730 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2136A>G (p.Pro712=) single nucleotide variant Fanconi anemia [RCV003636862] ChrX:14844532 [GRCh38]
ChrX:14862654 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2359A>C (p.Arg787=) single nucleotide variant Fanconi anemia [RCV003636618] ChrX:14843788 [GRCh38]
ChrX:14861910 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr) single nucleotide variant Fanconi anemia [RCV003636891] ChrX:14845197 [GRCh38]
ChrX:14863319 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.603A>C (p.Ser201=) single nucleotide variant Fanconi anemia [RCV003637024] ChrX:14864908 [GRCh38]
ChrX:14883030 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2112C>T (p.Leu704=) single nucleotide variant Fanconi anemia [RCV003837698] ChrX:14844556 [GRCh38]
ChrX:14862678 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.898G>A (p.Val300Ile) single nucleotide variant Fanconi anemia [RCV003636663]|Inborn genetic diseases [RCV004374183] ChrX:14864613 [GRCh38]
ChrX:14882735 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_001018113.3(FANCB):c.2055C>G (p.Ile685Met) single nucleotide variant Fanconi anemia [RCV003636671] ChrX:14844613 [GRCh38]
ChrX:14862735 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu) single nucleotide variant Fanconi anemia [RCV003851790] ChrX:14853150 [GRCh38]
ChrX:14871272 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.951+7C>T single nucleotide variant Fanconi anemia [RCV003636686] ChrX:14864553 [GRCh38]
ChrX:14882675 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2526A>T (p.Val842=) single nucleotide variant Fanconi anemia [RCV003523777] ChrX:14843621 [GRCh38]
ChrX:14861743 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2299C>T (p.Leu767=) single nucleotide variant Fanconi anemia [RCV003636705] ChrX:14843848 [GRCh38]
ChrX:14861970 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.388A>T (p.Met130Leu) single nucleotide variant Fanconi anemia [RCV003636722] ChrX:14865123 [GRCh38]
ChrX:14883245 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1269C>T (p.Tyr423=) single nucleotide variant Fanconi anemia [RCV003636179] ChrX:14853096 [GRCh38]
ChrX:14871218 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2415A>G (p.Arg805=) single nucleotide variant Fanconi anemia [RCV003636146] ChrX:14843732 [GRCh38]
ChrX:14861854 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2165+18G>T single nucleotide variant Fanconi anemia [RCV003636084] ChrX:14844485 [GRCh38]
ChrX:14862607 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1110A>G (p.Glu370=) single nucleotide variant Fanconi anemia [RCV003636740] ChrX:14857949 [GRCh38]
ChrX:14876071 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.171T>C (p.Phe57=) single nucleotide variant Fanconi anemia [RCV003636255] ChrX:14865340 [GRCh38]
ChrX:14883462 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1440T>C (p.Tyr480=) single nucleotide variant Fanconi anemia [RCV003636195] ChrX:14850561 [GRCh38]
ChrX:14868683 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2467A>G (p.Met823Val) single nucleotide variant Fanconi anemia [RCV003636408] ChrX:14843680 [GRCh38]
ChrX:14861802 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.291A>G (p.Glu97=) single nucleotide variant Fanconi anemia [RCV003636299] ChrX:14865220 [GRCh38]
ChrX:14883342 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1826G>A (p.Cys609Tyr) single nucleotide variant Fanconi anemia [RCV003524011] ChrX:14844957 [GRCh38]
ChrX:14863079 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2271T>C (p.Asp757=) single nucleotide variant Fanconi anemia [RCV003839660] ChrX:14843876 [GRCh38]
ChrX:14861998 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2340T>C (p.His780=) single nucleotide variant Fanconi anemia [RCV003636773] ChrX:14843807 [GRCh38]
ChrX:14861929 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg) single nucleotide variant Fanconi anemia [RCV003838217] ChrX:14859283 [GRCh38]
ChrX:14877405 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.490T>C (p.Ser164Pro) single nucleotide variant Fanconi anemia [RCV003636432] ChrX:14865021 [GRCh38]
ChrX:14883143 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2556T>C (p.Ala852=) single nucleotide variant Fanconi anemia [RCV003636538] ChrX:14843591 [GRCh38]
ChrX:14861713 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1105-16T>A single nucleotide variant Fanconi anemia [RCV003635697] ChrX:14857970 [GRCh38]
ChrX:14876092 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val) single nucleotide variant Fanconi anemia [RCV003636575] ChrX:14844728 [GRCh38]
ChrX:14862850 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2165+12T>G single nucleotide variant Fanconi anemia [RCV003636466] ChrX:14844491 [GRCh38]
ChrX:14862613 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1819G>A (p.Gly607Ser) single nucleotide variant Fanconi anemia [RCV003636928] ChrX:14844964 [GRCh38]
ChrX:14863086 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1406A>T (p.Gln469Leu) single nucleotide variant Fanconi anemia [RCV003637041] ChrX:14850595 [GRCh38]
ChrX:14868717 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.952-16G>A single nucleotide variant Fanconi anemia [RCV003635746] ChrX:14859350 [GRCh38]
ChrX:14877472 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1497-20A>G single nucleotide variant Fanconi anemia [RCV003636940] ChrX:14845306 [GRCh38]
ChrX:14863428 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1725A>G (p.Val575=) single nucleotide variant Fanconi anemia [RCV003635551] ChrX:14845058 [GRCh38]
ChrX:14863180 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1887T>G (p.Thr629=) single nucleotide variant Fanconi anemia [RCV003815166] ChrX:14844896 [GRCh38]
ChrX:14863018 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1105-9A>T single nucleotide variant Fanconi anemia [RCV003523871] ChrX:14857963 [GRCh38]
ChrX:14876085 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2577A>G (p.Leu859=) single nucleotide variant Fanconi anemia [RCV003523394] ChrX:14843570 [GRCh38]
ChrX:14861692 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2562G>A (p.Gln854=) single nucleotide variant Fanconi anemia [RCV003523906] ChrX:14843585 [GRCh38]
ChrX:14861707 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.744C>A (p.Ile248=) single nucleotide variant Fanconi anemia [RCV003522187] ChrX:14864767 [GRCh38]
ChrX:14882889 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1104+18A>C single nucleotide variant Fanconi anemia [RCV003522225] ChrX:14859164 [GRCh38]
ChrX:14877286 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1521A>T (p.Ser507=) single nucleotide variant Fanconi anemia [RCV003522231] ChrX:14845262 [GRCh38]
ChrX:14863384 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2539T>C (p.Leu847=) single nucleotide variant Fanconi anemia [RCV003522289] ChrX:14843608 [GRCh38]
ChrX:14861730 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala) single nucleotide variant Fanconi anemia [RCV003522319] ChrX:14864900 [GRCh38]
ChrX:14883022 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1569T>C (p.Cys523=) single nucleotide variant Fanconi anemia [RCV003635742] ChrX:14845214 [GRCh38]
ChrX:14863336 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser) single nucleotide variant Fanconi anemia [RCV003635763] ChrX:14844668 [GRCh38]
ChrX:14862790 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2190C>T (p.Cys730=) single nucleotide variant Fanconi anemia [RCV003835769] ChrX:14843957 [GRCh38]
ChrX:14862079 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1197+10T>C single nucleotide variant Fanconi anemia [RCV003524333] ChrX:14857852 [GRCh38]
ChrX:14875974 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.970A>C (p.Lys324Gln) single nucleotide variant Fanconi anemia [RCV003524478] ChrX:14859316 [GRCh38]
ChrX:14877438 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr) single nucleotide variant Fanconi anemia [RCV003635413] ChrX:14864901 [GRCh38]
ChrX:14883023 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.273C>T (p.Leu91=) single nucleotide variant Fanconi anemia [RCV003635716] ChrX:14865238 [GRCh38]
ChrX:14883360 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1496+19_1496+21del deletion Fanconi anemia [RCV003522707] ChrX:14850484..14850486 [GRCh38]
ChrX:14868606..14868608 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2370G>A (p.Val790=) single nucleotide variant Fanconi anemia [RCV003522177] ChrX:14843777 [GRCh38]
ChrX:14861899 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.93T>C (p.Asn31=) single nucleotide variant Fanconi anemia [RCV003522254]|not provided [RCV004598268] ChrX:14865418 [GRCh38]
ChrX:14883540 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.702C>T (p.Ser234=) single nucleotide variant Fanconi anemia [RCV003635497] ChrX:14864809 [GRCh38]
ChrX:14882931 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro) single nucleotide variant Fanconi anemia [RCV003635711] ChrX:14865048 [GRCh38]
ChrX:14883170 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2280A>T (p.Ala760=) single nucleotide variant Fanconi anemia [RCV003522314] ChrX:14843867 [GRCh38]
ChrX:14861989 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1251A>G (p.Lys417=) single nucleotide variant Fanconi anemia [RCV003637592] ChrX:14853114 [GRCh38]
ChrX:14871236 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1326+7G>C single nucleotide variant Fanconi anemia [RCV003637633] ChrX:14853032 [GRCh38]
ChrX:14871154 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2244A>G (p.Lys748=) single nucleotide variant Fanconi anemia [RCV003638064] ChrX:14843903 [GRCh38]
ChrX:14862025 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.339C>T (p.His113=) single nucleotide variant Fanconi anemia [RCV003637785] ChrX:14865172 [GRCh38]
ChrX:14883294 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1927+16C>T single nucleotide variant Fanconi anemia [RCV003637802] ChrX:14844840 [GRCh38]
ChrX:14862962 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala) single nucleotide variant Fanconi anemia [RCV003637858] ChrX:14844575 [GRCh38]
ChrX:14862697 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu) single nucleotide variant Fanconi anemia [RCV003637957] ChrX:14845026 [GRCh38]
ChrX:14863148 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1614A>G (p.Pro538=) single nucleotide variant Fanconi anemia [RCV003823371] ChrX:14845169 [GRCh38]
ChrX:14863291 [GRCh37]
ChrX:Xp22.2		 benign
NM_001018113.3(FANCB):c.1327-17T>G single nucleotide variant Fanconi anemia [RCV003860521] ChrX:14850691 [GRCh38]
ChrX:14868813 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1950A>G (p.Ala650=) single nucleotide variant Fanconi anemia [RCV003865240] ChrX:14844718 [GRCh38]
ChrX:14862840 [GRCh37]
ChrX:Xp22.2		 likely benign
GRCh37/hg19 Xp22.2(chrX:13948313-16844723) copy number gain not specified [RCV003986236] ChrX:13948313..16844723 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs) duplication Fanconi anemia [RCV003637682] ChrX:14857896..14857897 [GRCh38]
ChrX:14876018..14876019 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_001018113.3(FANCB):c.1497G>T (p.Leu499=) single nucleotide variant Fanconi anemia [RCV003637828] ChrX:14845286 [GRCh38]
ChrX:14863408 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2406A>G (p.Leu802=) single nucleotide variant Fanconi anemia [RCV003871763] ChrX:14843741 [GRCh38]
ChrX:14861863 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.876A>G (p.Ser292=) single nucleotide variant Fanconi anemia [RCV003848471] ChrX:14864635 [GRCh38]
ChrX:14882757 [GRCh37]
ChrX:Xp22.2		 likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_001018113.3(FANCB):c.1497-12G>T single nucleotide variant Fanconi anemia [RCV003868406] ChrX:14845298 [GRCh38]
ChrX:14863420 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1104+10A>G single nucleotide variant Fanconi anemia [RCV003870555] ChrX:14859172 [GRCh38]
ChrX:14877294 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.681C>T (p.Tyr227=) single nucleotide variant Fanconi anemia [RCV003870599] ChrX:14864830 [GRCh38]
ChrX:14882952 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.408C>T (p.Val136=) single nucleotide variant Fanconi anemia [RCV003869154] ChrX:14865103 [GRCh38]
ChrX:14883225 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1563A>G (p.Leu521=) single nucleotide variant Fanconi anemia [RCV003637866] ChrX:14845220 [GRCh38]
ChrX:14863342 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.735T>C (p.Thr245=) single nucleotide variant Fanconi anemia [RCV003864566] ChrX:14864776 [GRCh38]
ChrX:14882898 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.372T>C (p.Phe124=) single nucleotide variant Fanconi anemia [RCV003869080] ChrX:14865139 [GRCh38]
ChrX:14883261 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2276T>C (p.Met759Thr) single nucleotide variant Fanconi anemia [RCV003637448] ChrX:14843871 [GRCh38]
ChrX:14861993 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1788T>C (p.Thr596=) single nucleotide variant Fanconi anemia [RCV003637479] ChrX:14844995 [GRCh38]
ChrX:14863117 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1818T>C (p.Ser606=) single nucleotide variant Fanconi anemia [RCV003637538] ChrX:14844965 [GRCh38]
ChrX:14863087 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2166-15_2166-12del microsatellite Fanconi anemia [RCV003637573] ChrX:14843993..14843996 [GRCh38]
ChrX:14862115..14862118 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro) single nucleotide variant Fanconi anemia [RCV003637700] ChrX:14845075 [GRCh38]
ChrX:14863197 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr) single nucleotide variant Fanconi anemia [RCV003861485] ChrX:14844738 [GRCh38]
ChrX:14862860 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1104+20T>G single nucleotide variant Fanconi anemia [RCV003637861] ChrX:14859162 [GRCh38]
ChrX:14877284 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1326+18A>G single nucleotide variant Fanconi anemia [RCV003638108] ChrX:14853021 [GRCh38]
ChrX:14871143 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.483T>C (p.Val161=) single nucleotide variant Fanconi anemia [RCV003854093] ChrX:14865028 [GRCh38]
ChrX:14883150 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001410764.1(FANCB):c.2616C>T (p.Cys872=) single nucleotide variant not provided [RCV003993147] ChrX:14796910 [GRCh38]
ChrX:14815032 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001410764.1(FANCB):c.2692T>C (p.Leu898=) single nucleotide variant not provided [RCV003993161] ChrX:14796834 [GRCh38]
ChrX:14814956 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.1128G>A (p.Gly376=) single nucleotide variant GLRA2-related disorder [RCV003947323] ChrX:14730254 [GRCh38]
ChrX:14748376 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.285G>A (p.Val95=) single nucleotide variant FANCB-related disorder [RCV003926936] ChrX:14865226 [GRCh38]
ChrX:14883348 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.1074G>A (p.Gln358=) single nucleotide variant GLRA2-related disorder [RCV003947196] ChrX:14690853 [GRCh38]
ChrX:14708975 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.1172C>T (p.Ala391Val) single nucleotide variant GLRA2-related disorder [RCV003934583] ChrX:14730298 [GRCh38]
ChrX:14748420 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.931-18TC[10] microsatellite GLRA2-related disorder [RCV003969639] ChrX:14690691..14690692 [GRCh38]
ChrX:14708813..14708814 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2221A>C (p.Asn741His) single nucleotide variant Inborn genetic diseases [RCV004383704] ChrX:14843926 [GRCh38]
ChrX:14862048 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1162G>C (p.Ala388Pro) single nucleotide variant Inborn genetic diseases [RCV004393223] ChrX:14730288 [GRCh38]
ChrX:14748410 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter) single nucleotide variant Fanconi anemia complementation group B [RCV004576536] ChrX:14845213 [GRCh38]
ChrX:14863335 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NC_000023.10:g.(?_14861689)_(14883702_?)dup duplication Fanconi anemia [RCV004582910] ChrX:14861689..14883702 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_14027032)_(19854400_?)del deletion not provided [RCV004583528] ChrX:14027032..19854400 [GRCh37]
ChrX:Xp22.2-22.12		 pathogenic
NM_001018113.3(FANCB):c.190T>C (p.Phe64Leu) single nucleotide variant Inborn genetic diseases [RCV004620719] ChrX:14865321 [GRCh38]
ChrX:14883443 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1091T>A (p.Val364Asp) single nucleotide variant Inborn genetic diseases [RCV004629760] ChrX:14730217 [GRCh38]
ChrX:14748339 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1010C>T (p.Ala337Val) single nucleotide variant Inborn genetic diseases [RCV004629761] ChrX:14690789 [GRCh38]
ChrX:14708911 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1103C>G (p.Ser368Trp) single nucleotide variant not provided [RCV004770480] ChrX:14859183 [GRCh38]
ChrX:14877305 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1025C>G (p.Ser342Cys) single nucleotide variant Intellectual developmental disorder, X-linked, syndromic, Pilorge type [RCV004796560] ChrX:14690804 [GRCh38]
ChrX:14708926 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.965C>T (p.Ala322Val) single nucleotide variant GLRA2-related disorder [RCV004756662] ChrX:14690744 [GRCh38]
ChrX:14708866 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2174C>A (p.Thr725Lys) single nucleotide variant Fanconi anemia complementation group B [RCV005049298] ChrX:14843973 [GRCh38]
ChrX:14862095 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2267T>A (p.Ile756Asn) single nucleotide variant Fanconi anemia complementation group B [RCV005049297] ChrX:14843880 [GRCh38]
ChrX:14862002 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2050A>G (p.Ile684Val) single nucleotide variant Fanconi anemia complementation group B [RCV005049299] ChrX:14844618 [GRCh38]
ChrX:14862740 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1623G>A (p.Met541Ile) single nucleotide variant Fanconi anemia complementation group B [RCV005049300] ChrX:14845160 [GRCh38]
ChrX:14863282 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.218A>G (p.His73Arg) single nucleotide variant Fanconi anemia complementation group B [RCV005049301] ChrX:14865293 [GRCh38]
ChrX:14883415 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2339A>G (p.His780Arg) single nucleotide variant Fanconi anemia complementation group B [RCV005041649] ChrX:14843808 [GRCh38]
ChrX:14861930 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2329A>C (p.Ile777Leu) single nucleotide variant Fanconi anemia complementation group B [RCV005041651] ChrX:14843818 [GRCh38]
ChrX:14861940 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2245T>A (p.Ser749Thr) single nucleotide variant Fanconi anemia complementation group B [RCV005041654] ChrX:14843902 [GRCh38]
ChrX:14862024 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1867A>C (p.Ser623Arg) single nucleotide variant Fanconi anemia complementation group B [RCV005041657] ChrX:14844916 [GRCh38]
ChrX:14863038 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.422T>C (p.Leu141Ser) single nucleotide variant Fanconi anemia complementation group B [RCV005041672] ChrX:14865089 [GRCh38]
ChrX:14883211 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.552G>T (p.Leu184Phe) single nucleotide variant Fanconi anemia complementation group B [RCV005041671] ChrX:14864959 [GRCh38]
ChrX:14883081 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.595G>A (p.Glu199Lys) single nucleotide variant Fanconi anemia complementation group B [RCV005041669] ChrX:14864916 [GRCh38]
ChrX:14883038 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_002063.4(GLRA2):c.1351A>C (p.Lys451Gln) single nucleotide variant Inborn genetic diseases [RCV004982610] ChrX:14730477 [GRCh38]
ChrX:14748599 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_002063.4(GLRA2):c.1106G>A (p.Arg369His) single nucleotide variant Inborn genetic diseases [RCV004983725] ChrX:14730232 [GRCh38]
ChrX:14748354 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2273A>G (p.Asn758Ser) single nucleotide variant Fanconi anemia complementation group B [RCV005041653] ChrX:14843874 [GRCh38]
ChrX:14861996 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.986T>A (p.Leu329Gln) single nucleotide variant Fanconi anemia complementation group B [RCV005041665] ChrX:14859300 [GRCh38]
ChrX:14877422 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.592C>G (p.Gln198Glu) single nucleotide variant Fanconi anemia complementation group B [RCV005041670] ChrX:14864919 [GRCh38]
ChrX:14883041 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.625A>G (p.Asn209Asp) single nucleotide variant Fanconi anemia complementation group B [RCV005041668] ChrX:14864886 [GRCh38]
ChrX:14883008 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2454A>T (p.Arg818Ser) single nucleotide variant Fanconi anemia complementation group B [RCV005041647] ChrX:14843693 [GRCh38]
ChrX:14861815 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2354T>C (p.Met785Thr) single nucleotide variant Fanconi anemia complementation group B [RCV005041648] ChrX:14843793 [GRCh38]
ChrX:14861915 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2281T>G (p.Phe761Val) single nucleotide variant Fanconi anemia complementation group B [RCV005041652] ChrX:14843866 [GRCh38]
ChrX:14861988 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2176G>A (p.Val726Ile) single nucleotide variant Fanconi anemia [RCV005105346]|Fanconi anemia complementation group B [RCV005041655] ChrX:14843971 [GRCh38]
ChrX:14862093 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1724T>A (p.Val575Glu) single nucleotide variant Fanconi anemia complementation group B [RCV005041658] ChrX:14845059 [GRCh38]
ChrX:14863181 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1292A>G (p.Gln431Arg) single nucleotide variant Fanconi anemia complementation group B [RCV005041662] ChrX:14853073 [GRCh38]
ChrX:14871195 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1217G>A (p.Arg406Gln) single nucleotide variant Fanconi anemia complementation group B [RCV005041663] ChrX:14853148 [GRCh38]
ChrX:14871270 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1150C>G (p.Gln384Glu) single nucleotide variant Fanconi anemia complementation group B [RCV005041664] ChrX:14857909 [GRCh38]
ChrX:14876031 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.974T>C (p.Leu325Pro) single nucleotide variant Fanconi anemia complementation group B [RCV005041666] ChrX:14859312 [GRCh38]
ChrX:14877434 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1640T>C (p.Leu547Ser) single nucleotide variant Fanconi anemia complementation group B [RCV005041659] ChrX:14845143 [GRCh38]
ChrX:14863265 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1597A>G (p.Asn533Asp) single nucleotide variant Fanconi anemia complementation group B [RCV005041660] ChrX:14845186 [GRCh38]
ChrX:14863308 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-21.3(chrX:2631638-25008584)x1 copy number loss not provided [RCV004819402] ChrX:2631638..25008584 [GRCh37]
ChrX:Xp22.33-21.3		 pathogenic
NM_001018113.3(FANCB):c.2216C>G (p.Pro739Arg) single nucleotide variant Fanconi anemia [RCV005067815] ChrX:14843931 [GRCh38]
ChrX:14862053 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1198-9A>G single nucleotide variant Fanconi anemia [RCV005145247] ChrX:14853176 [GRCh38]
ChrX:14871298 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1595C>T (p.Thr532Ile) single nucleotide variant Fanconi anemia [RCV005147322] ChrX:14845188 [GRCh38]
ChrX:14863310 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1479T>C (p.Thr493=) single nucleotide variant Fanconi anemia [RCV005195690] ChrX:14850522 [GRCh38]
ChrX:14868644 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.455T>C (p.Phe152Ser) single nucleotide variant Fanconi anemia [RCV005147460] ChrX:14865056 [GRCh38]
ChrX:14883178 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1774A>G (p.Lys592Glu) single nucleotide variant Fanconi anemia [RCV005170304] ChrX:14845009 [GRCh38]
ChrX:14863131 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.581A>G (p.Glu194Gly) single nucleotide variant Fanconi anemia [RCV005145365] ChrX:14864930 [GRCh38]
ChrX:14883052 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2360G>C (p.Arg787Thr) single nucleotide variant Fanconi anemia [RCV005086381] ChrX:14843787 [GRCh38]
ChrX:14861909 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.143T>C (p.Met48Thr) single nucleotide variant Fanconi anemia [RCV005174484] ChrX:14865368 [GRCh38]
ChrX:14883490 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.337C>T (p.His113Tyr) single nucleotide variant Fanconi anemia [RCV005163979] ChrX:14865174 [GRCh38]
ChrX:14883296 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1027_1032del (p.Leu343_Leu344del) deletion Fanconi anemia [RCV005204583] ChrX:14859254..14859259 [GRCh38]
ChrX:14877376..14877381 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1104+18A>G single nucleotide variant Fanconi anemia [RCV005201585] ChrX:14859164 [GRCh38]
ChrX:14877286 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1842T>C (p.Tyr614=) single nucleotide variant Fanconi anemia [RCV005179416] ChrX:14844941 [GRCh38]
ChrX:14863063 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2064T>C (p.Phe688=) single nucleotide variant Fanconi anemia [RCV005176268] ChrX:14844604 [GRCh38]
ChrX:14862726 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1379T>C (p.Leu460Ser) single nucleotide variant Fanconi anemia [RCV005148062] ChrX:14850622 [GRCh38]
ChrX:14868744 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.465T>C (p.Ser155=) single nucleotide variant Fanconi anemia [RCV005190149] ChrX:14865046 [GRCh38]
ChrX:14883168 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.31G>A (p.Glu11Lys) single nucleotide variant Fanconi anemia [RCV005208072] ChrX:14865480 [GRCh38]
ChrX:14883602 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1654G>A (p.Val552Ile) single nucleotide variant Fanconi anemia [RCV005073050] ChrX:14845129 [GRCh38]
ChrX:14863251 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1168G>T (p.Val390Leu) single nucleotide variant Fanconi anemia [RCV005150100] ChrX:14857891 [GRCh38]
ChrX:14876013 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.42G>A (p.Arg14=) single nucleotide variant Fanconi anemia [RCV005199689] ChrX:14865469 [GRCh38]
ChrX:14883591 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.726T>A (p.Ile242=) single nucleotide variant Fanconi anemia [RCV005133637] ChrX:14864785 [GRCh38]
ChrX:14882907 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1243A>C (p.Lys415Gln) single nucleotide variant Fanconi anemia [RCV005168613] ChrX:14853122 [GRCh38]
ChrX:14871244 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2014A>G (p.Met672Val) single nucleotide variant Fanconi anemia [RCV005193577] ChrX:14844654 [GRCh38]
ChrX:14862776 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1288G>T (p.Val430Phe) single nucleotide variant Fanconi anemia [RCV005164527] ChrX:14853077 [GRCh38]
ChrX:14871199 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.632A>G (p.Lys211Arg) single nucleotide variant Fanconi anemia [RCV005084482] ChrX:14864879 [GRCh38]
ChrX:14883001 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1524G>T (p.Leu508Phe) single nucleotide variant Fanconi anemia [RCV005139974] ChrX:14845259 [GRCh38]
ChrX:14863381 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1060C>G (p.Leu354Val) single nucleotide variant Fanconi anemia [RCV005144486] ChrX:14859226 [GRCh38]
ChrX:14877348 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2523A>C (p.Lys841Asn) single nucleotide variant Fanconi anemia [RCV005132534] ChrX:14843624 [GRCh38]
ChrX:14861746 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1663A>G (p.Thr555Ala) single nucleotide variant Fanconi anemia [RCV005194749] ChrX:14845120 [GRCh38]
ChrX:14863242 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.815C>T (p.Thr272Ile) single nucleotide variant Fanconi anemia [RCV005143166] ChrX:14864696 [GRCh38]
ChrX:14882818 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2166-15del deletion Fanconi anemia [RCV005148576] ChrX:14843996 [GRCh38]
ChrX:14862118 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1345C>G (p.Leu449Val) single nucleotide variant Fanconi anemia [RCV005084506] ChrX:14850656 [GRCh38]
ChrX:14868778 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1857A>G (p.Arg619=) single nucleotide variant Fanconi anemia [RCV005141644] ChrX:14844926 [GRCh38]
ChrX:14863048 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2130A>G (p.Arg710=) single nucleotide variant Fanconi anemia [RCV005083411] ChrX:14844538 [GRCh38]
ChrX:14862660 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1327-7T>G single nucleotide variant Fanconi anemia [RCV005165723] ChrX:14850681 [GRCh38]
ChrX:14868803 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.2314T>G (p.Ser772Ala) single nucleotide variant Fanconi anemia [RCV005191350] ChrX:14843833 [GRCh38]
ChrX:14861955 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1159C>A (p.Arg387Ser) single nucleotide variant Fanconi anemia [RCV005187700] ChrX:14857900 [GRCh38]
ChrX:14876022 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.129A>G (p.Leu43=) single nucleotide variant Fanconi anemia [RCV005189320] ChrX:14865382 [GRCh38]
ChrX:14883504 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1354G>A (p.Glu452Lys) single nucleotide variant Fanconi anemia [RCV005078027] ChrX:14850647 [GRCh38]
ChrX:14868769 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1455T>C (p.Asp485=) single nucleotide variant Fanconi anemia [RCV005153772] ChrX:14850546 [GRCh38]
ChrX:14868668 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_001018113.3(FANCB):c.1781G>C (p.Cys594Ser) single nucleotide variant Fanconi anemia [RCV005197856] ChrX:14845002 [GRCh38]
ChrX:14863124 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1754C>T (p.Ser585Leu) single nucleotide variant Fanconi anemia [RCV005177610] ChrX:14845029 [GRCh38]
ChrX:14863151 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1100A>G (p.Tyr367Cys) single nucleotide variant Fanconi anemia [RCV005197777] ChrX:14859186 [GRCh38]
ChrX:14877308 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.167T>C (p.Val56Ala) single nucleotide variant Fanconi anemia [RCV005177831] ChrX:14865344 [GRCh38]
ChrX:14883466 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.2481C>A (p.Asn827Lys) single nucleotide variant Fanconi anemia [RCV005181733] ChrX:14843666 [GRCh38]
ChrX:14861788 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001018113.3(FANCB):c.1556G>T (p.Arg519Leu) single nucleotide variant Fanconi anemia [RCV005150174] ChrX:14845227 [GRCh38]
ChrX:14863349 [GRCh37]
ChrX:Xp22.2		 uncertain significance
miRNA Target Status (No longer updated)

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597467972GWAS1564046_Hhigh density lipoprotein cholesterol measurement QTL GWAS1564046 (human)3e-11high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)X1484198114841982Human
597469989GWAS1566063_Hage at menopause QTL GWAS1566063 (human)4e-33age at menopauseX1482171814821719Human
597467973GWAS1564047_Hhigh density lipoprotein cholesterol measurement QTL GWAS1564047 (human)1e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)X1484198114841982Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1203 2436 2740 2215 4940 1665 2292 5 572 1937 413 2265 7127 6404 53 3709 1 828 1738 1612 175 1

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_001410764 (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_017029355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326695 (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
  XR_007068184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485471 (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
  CP068255 (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

Ensembl Acc Id: ENST00000324138   ⟹   ENSP00000326819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,843,407 - 14,873,069 (-)Ensembl
Ensembl Acc Id: ENST00000398334   ⟹   ENSP00000381378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,843,407 - 14,873,062 (-)Ensembl
Ensembl Acc Id: ENST00000452869   ⟹   ENSP00000397849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,834,150 - 14,873,255 (-)Ensembl
Ensembl Acc Id: ENST00000489126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,865,343 - 14,869,243 (-)Ensembl
Ensembl Acc Id: ENST00000643728   ⟹   ENSP00000495047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,835,961 - 14,873,059 (-)Ensembl
Ensembl Acc Id: ENST00000646255   ⟹   ENSP00000494963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,843,405 - 14,869,004 (-)Ensembl
Ensembl Acc Id: ENST00000650831   ⟹   ENSP00000498215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,843,405 - 14,873,069 (-)Ensembl
Ensembl Acc Id: ENST00000696311   ⟹   ENSP00000512549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,835,961 - 14,873,064 (-)Ensembl
Ensembl Acc Id: ENST00000696312   ⟹   ENSP00000512550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,840,184 - 14,873,064 (-)Ensembl
Ensembl Acc Id: ENST00000696313   ⟹   ENSP00000512551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,865,303 - 14,873,052 (-)Ensembl
Ensembl Acc Id: ENST00000696322   ⟹   ENSP00000512559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,796,759 - 14,864,773 (-)Ensembl
Ensembl Acc Id: ENST00000696323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,857,188 - 14,873,059 (-)Ensembl
Ensembl Acc Id: ENST00000696351   ⟹   ENSP00000512572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,690,388 - 14,873,064 (-)Ensembl
Ensembl Acc Id: ENST00000696352   ⟹   ENSP00000512573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,690,863 - 14,873,255 (-)Ensembl
Ensembl Acc Id: ENST00000696353   ⟹   ENSP00000512574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,795,046 - 14,873,255 (-)Ensembl
Ensembl Acc Id: ENST00000696354   ⟹   ENSP00000512575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,796,729 - 14,873,057 (-)Ensembl
Ensembl Acc Id: ENST00000696355   ⟹   ENSP00000512576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,835,964 - 14,873,059 (-)Ensembl
Ensembl Acc Id: ENST00000696356   ⟹   ENSP00000512577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,842,773 - 14,873,059 (-)Ensembl
Ensembl Acc Id: ENST00000696357   ⟹   ENSP00000512578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX14,843,419 - 14,873,238 (-)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
T2T-CHM13v2.0X14,423,924 - 14,453,587 (-)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
T2T-CHM13v2.0X14,423,924 - 14,453,587 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410764   ⟹   NP_001397693
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,795,628 - 14,873,069 (-)NCBI
T2T-CHM13v2.0X14,376,143 - 14,453,587 (-)NCBI
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
T2T-CHM13v2.0X14,423,924 - 14,453,587 (-)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
T2T-CHM13v2.0X14,445,711 - 14,453,587 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029356   ⟹   XP_016884845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,833,234 - 14,873,069 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441920   ⟹   XP_047297876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,843,405 - 14,873,069 (-)NCBI
RefSeq Acc Id: XM_047441921   ⟹   XP_047297877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,843,405 - 14,873,069 (-)NCBI
RefSeq Acc Id: XM_047441922   ⟹   XP_047297878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,833,234 - 14,873,069 (-)NCBI
RefSeq Acc Id: XM_047441923   ⟹   XP_047297879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,833,234 - 14,873,069 (-)NCBI
RefSeq Acc Id: XM_047441924   ⟹   XP_047297880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,833,234 - 14,873,069 (-)NCBI
RefSeq Acc Id: XM_054326690   ⟹   XP_054182665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,423,924 - 14,453,753 (-)NCBI
RefSeq Acc Id: XM_054326691   ⟹   XP_054182666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,423,924 - 14,453,494 (-)NCBI
RefSeq Acc Id: XM_054326692   ⟹   XP_054182667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,414,669 - 14,453,587 (-)NCBI
RefSeq Acc Id: XM_054326693   ⟹   XP_054182668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,414,669 - 14,453,587 (-)NCBI
RefSeq Acc Id: XM_054326694   ⟹   XP_054182669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,414,669 - 14,453,587 (-)NCBI
RefSeq Acc Id: XM_054326695   ⟹   XP_054182670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,414,669 - 14,453,494 (-)NCBI
RefSeq Acc Id: XR_001755672
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,689,524 - 14,873,069 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755673
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,689,524 - 14,873,069 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755674
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,689,524 - 14,873,069 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007068184
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,689,524 - 14,873,069 (-)NCBI
RefSeq Acc Id: XR_008485468
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,271,452 - 14,453,587 (-)NCBI
RefSeq Acc Id: XR_008485469
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,271,452 - 14,453,760 (-)NCBI
RefSeq Acc Id: XR_008485470
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,271,452 - 14,453,587 (-)NCBI
RefSeq Acc Id: XR_008485471
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X14,266,304 - 14,453,587 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001018123 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311091 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397693 (Get FASTA)   NCBI Sequence Viewer  
  NP_689846 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884845 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297876 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297877 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297878 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297879 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297880 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182665 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182666 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182667 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182668 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182669 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182670 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH43596 (Get FASTA)   NCBI Sequence Viewer  
  AAH55411 (Get FASTA)   NCBI Sequence Viewer  
  AAI36559 (Get FASTA)   NCBI Sequence Viewer  
  AAI36561 (Get FASTA)   NCBI Sequence Viewer  
  BAC03650 (Get FASTA)   NCBI Sequence Viewer  
  EAW98861 (Get FASTA)   NCBI Sequence Viewer  
  EAW98862 (Get FASTA)   NCBI Sequence Viewer  
  EAW98863 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326819
  ENSP00000326819.3
  ENSP00000397849
  ENSP00000397849.2
  ENSP00000494963.1
  ENSP00000495047.1
  ENSP00000498215
  ENSP00000498215.1
  ENSP00000512549.1
  ENSP00000512550
  ENSP00000512550.1
  ENSP00000512551.1
  ENSP00000512559.1
  ENSP00000512572.1
  ENSP00000512573.1
  ENSP00000512574
  ENSP00000512574.1
  ENSP00000512575.1
  ENSP00000512576.1
  ENSP00000512577.1
  ENSP00000512578.1
GenBank Protein Q8NB91 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_689846   ⟸   NM_152633
- Peptide Label: isoform 1
- UniProtKB: Q7Z2U2 (UniProtKB/Swiss-Prot),   B2RMZ4 (UniProtKB/Swiss-Prot),   Q86XG1 (UniProtKB/Swiss-Prot),   Q8NB91 (UniProtKB/Swiss-Prot),   A0A8Q3WL55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001018123   ⟸   NM_001018113
- Peptide Label: isoform 1
- UniProtKB: Q7Z2U2 (UniProtKB/Swiss-Prot),   B2RMZ4 (UniProtKB/Swiss-Prot),   Q86XG1 (UniProtKB/Swiss-Prot),   Q8NB91 (UniProtKB/Swiss-Prot),   A0A8Q3WL55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311091   ⟸   NM_001324162
- Peptide Label: isoform 1
- UniProtKB: Q7Z2U2 (UniProtKB/Swiss-Prot),   B2RMZ4 (UniProtKB/Swiss-Prot),   Q86XG1 (UniProtKB/Swiss-Prot),   Q8NB91 (UniProtKB/Swiss-Prot),   A0A8Q3WL55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884845   ⟸   XM_017029356
- Peptide Label: isoform X2
- UniProtKB: C9J5X9 (UniProtKB/TrEMBL),   A0A8Q3WL55 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000381378   ⟸   ENST00000398334
Ensembl Acc Id: ENSP00000397849   ⟸   ENST00000452869
Ensembl Acc Id: ENSP00000498215   ⟸   ENST00000650831
Ensembl Acc Id: ENSP00000326819   ⟸   ENST00000324138
Ensembl Acc Id: ENSP00000495047   ⟸   ENST00000643728
Ensembl Acc Id: ENSP00000494963   ⟸   ENST00000646255
Ensembl Acc Id: ENSP00000512574   ⟸   ENST00000696353
Ensembl Acc Id: ENSP00000512578   ⟸   ENST00000696357
Ensembl Acc Id: ENSP00000512576   ⟸   ENST00000696355
Ensembl Acc Id: ENSP00000512559   ⟸   ENST00000696322
Ensembl Acc Id: ENSP00000512572   ⟸   ENST00000696351
Ensembl Acc Id: ENSP00000512577   ⟸   ENST00000696356
Ensembl Acc Id: ENSP00000512549   ⟸   ENST00000696311
Ensembl Acc Id: ENSP00000512551   ⟸   ENST00000696313
Ensembl Acc Id: ENSP00000512550   ⟸   ENST00000696312
Ensembl Acc Id: ENSP00000512573   ⟸   ENST00000696352
Ensembl Acc Id: ENSP00000512575   ⟸   ENST00000696354
RefSeq Acc Id: XP_047297878   ⟸   XM_047441922
- Peptide Label: isoform X2
- UniProtKB: A0A8Q3WL55 (UniProtKB/TrEMBL),   C9J5X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297879   ⟸   XM_047441923
- Peptide Label: isoform X2
- UniProtKB: A0A8Q3WL55 (UniProtKB/TrEMBL),   C9J5X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297880   ⟸   XM_047441924
- Peptide Label: isoform X2
- UniProtKB: A0A8Q3WL55 (UniProtKB/TrEMBL),   C9J5X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297877   ⟸   XM_047441921
- Peptide Label: isoform X1
- UniProtKB: Q8NB91 (UniProtKB/Swiss-Prot),   Q7Z2U2 (UniProtKB/Swiss-Prot),   B2RMZ4 (UniProtKB/Swiss-Prot),   Q86XG1 (UniProtKB/Swiss-Prot),   A0A8Q3WL55 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297876   ⟸   XM_047441920
- Peptide Label: isoform X1
- UniProtKB: Q8NB91 (UniProtKB/Swiss-Prot),   Q7Z2U2 (UniProtKB/Swiss-Prot),   B2RMZ4 (UniProtKB/Swiss-Prot),   Q86XG1 (UniProtKB/Swiss-Prot),   A0A8Q3WL55 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397693   ⟸   NM_001410764
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3SJA8 (UniProtKB/TrEMBL),   A0A8Q3WL66 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182668   ⟸   XM_054326693
- Peptide Label: isoform X2
- UniProtKB: A0A8Q3WL55 (UniProtKB/TrEMBL),   C9J5X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182669   ⟸   XM_054326694
- Peptide Label: isoform X2
- UniProtKB: A0A8Q3WL55 (UniProtKB/TrEMBL),   C9J5X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182667   ⟸   XM_054326692
- Peptide Label: isoform X2
- UniProtKB: A0A8Q3WL55 (UniProtKB/TrEMBL),   C9J5X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182670   ⟸   XM_054326695
- Peptide Label: isoform X2
- UniProtKB: A0A8Q3WL55 (UniProtKB/TrEMBL),   C9J5X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182665   ⟸   XM_054326690
- Peptide Label: isoform X1
- UniProtKB: Q8NB91 (UniProtKB/Swiss-Prot),   Q7Z2U2 (UniProtKB/Swiss-Prot),   B2RMZ4 (UniProtKB/Swiss-Prot),   Q86XG1 (UniProtKB/Swiss-Prot),   A0A8Q3WL55 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182666   ⟸   XM_054326691
- Peptide Label: isoform X1
- UniProtKB: Q8NB91 (UniProtKB/Swiss-Prot),   Q7Z2U2 (UniProtKB/Swiss-Prot),   B2RMZ4 (UniProtKB/Swiss-Prot),   Q86XG1 (UniProtKB/Swiss-Prot),   A0A8Q3WL55 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NB91-F1-model_v2 AlphaFold Q8NB91 1-859 view protein structure

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

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 Transcript ENST00000324138 ENTREZGENE
  ENST00000324138.7 UniProtKB/Swiss-Prot
  ENST00000452869 ENTREZGENE
  ENST00000452869.2 UniProtKB/TrEMBL
  ENST00000643728.2 UniProtKB/TrEMBL
  ENST00000646255.1 UniProtKB/TrEMBL
  ENST00000650831 ENTREZGENE
  ENST00000650831.1 UniProtKB/Swiss-Prot
  ENST00000696311.1 UniProtKB/TrEMBL
  ENST00000696312 ENTREZGENE
  ENST00000696312.1 UniProtKB/Swiss-Prot
  ENST00000696313.1 UniProtKB/TrEMBL
  ENST00000696322.1 UniProtKB/TrEMBL
  ENST00000696351.1 UniProtKB/TrEMBL
  ENST00000696352.1 UniProtKB/TrEMBL
  ENST00000696353 ENTREZGENE
  ENST00000696353.1 UniProtKB/TrEMBL
  ENST00000696354.1 UniProtKB/TrEMBL
  ENST00000696355.1 UniProtKB/TrEMBL
  ENST00000696356.1 UniProtKB/Swiss-Prot
  ENST00000696357.1 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
NCBI Gene 2187 ENTREZGENE
OMIM 300515 OMIM
PANTHER FANCONI ANEMIA GROUP B PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27996 PharmGKB
UniProt A0A2R8YDV8_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIN2_HUMAN UniProtKB/TrEMBL
  A0A8Q3SJA8 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WL55 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WL61_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL66 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WLR5_HUMAN UniProtKB/TrEMBL
  B2RMZ4 ENTREZGENE
  C9J5X9 ENTREZGENE, UniProtKB/TrEMBL
  FANCB_HUMAN UniProtKB/Swiss-Prot
  Q7Z2U2 ENTREZGENE
  Q86XG1 ENTREZGENE
  Q8NB91 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  FANCB  Fanconi anemia complementation group B  Symbol and/or name change 5135510 APPROVED
2015-11-10 FANCB  Fanconi anemia complementation group B  FANCB  Fanconi anemia, complementation group B  Symbol and/or name change 5135510 APPROVED