FANCF (FA complementation group F) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: FANCF (FA complementation group F) Homo sapiens
Analyze
Symbol: FANCF
Name: FA complementation group F
RGD ID: 1345063
HGNC Page HGNC:3587
Description: Predicted to contribute to ubiquitin protein ligase activity. Predicted to be involved in DNA damage response. Predicted to act upstream of or within ovarian follicle development; protein ubiquitination; and spermatogenesis. Located in nucleoplasm. Part of Fanconi anaemia nuclear complex and chromatin. Implicated in Fanconi anemia complementation group F; adenocarcinoma in situ; and granulosa cell tumor. Biomarker of tongue squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FAF; Fanconi anemia complementation group F; Fanconi anemia group F protein; Fanconi anemia, complementation group F; MGC126856
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
GRCh381122,622,533 - 22,625,823 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1122,622,533 - 22,625,823 (-)EnsemblGRCh38hg38GRCh38
GRCh371122,644,079 - 22,647,369 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361122,600,655 - 22,603,963 (-)NCBINCBI36Build 36hg18NCBI36
Build 341122,600,654 - 22,603,963NCBI
Celera1122,777,941 - 22,781,250 (-)NCBICelera
Cytogenetic Map11p14.3NCBI
HuRef1122,327,266 - 22,330,575 (-)NCBIHuRef
CHM1_11122,643,695 - 22,647,004 (-)NCBICHM1_1
T2T-CHM13v2.01122,743,288 - 22,746,579 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 finger cutaneous syndactyly  (IAGP)
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal preputium morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thumb 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 upper limb  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Absent testis  (IAGP)
Absent thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Arteriovenous malformation  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Bone marrow hypocellularity  (IAGP)
Breast carcinoma  (IAGP)
Cafe-au-lait spot  (IAGP)
Cataract  (IAGP)
Choanal atresia  (IAGP)
Chromosomal breakage induced by crosslinking agents  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in males  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed speech and language development  (IAGP)
Dolichocephaly  (IAGP)
Duodenal atresia  (IAGP)
Duodenal stenosis  (IAGP)
Epicanthus  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Leukopenia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphallus  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Neoplasm  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Ovarian neoplasm  (IAGP)
Patent ductus arteriosus  (IAGP)
Pelvic kidney  (IAGP)
Pes planus  (IAGP)
Placental abruption  (IAGP)
Pneumonia  (IAGP)
Polyhydramnios  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Single umbilical artery  (IAGP)
Sloping forehead  (IAGP)
Specific learning disability  (IAGP)
Spina bifida  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Fancf-deficient mice are prone to develop ovarian tumours. Bakker ST, etal., J Pathol. 2012 Jan;226(1):28-39. doi: 10.1002/path.2992. Epub 2011 Nov 14.
2. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. de Winter JP, etal., Nat Genet. 2000 Jan;24(1):15-6.
3. CpG methylation of the FHIT, FANCF, cyclin-D2, BRCA2 and RUNX3 genes in Granulosa cell tumors (GCTs) of ovarian origin. Dhillon VS, etal., Mol Cancer. 2004 Dec 1;3:33.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Promoter hypermethylation of FANCF and outcome in advanced ovarian cancer. Lim SL, etal., Br J Cancer. 2008 Apr 22;98(8):1452-6. Epub 2008 Apr 15.
6. Inactivation of the Fanconi anemia/BRCA pathway in lung and oral cancers: implications for treatment and survival. Marsit CJ, etal., Oncogene. 2004 Jan 29;23(4):1000-4.
7. Promoter hypermethylation of FANCF: disruption of Fanconi Anemia-BRCA pathway in cervical cancer. Narayan G, etal., Cancer Res. 2004 May 1;64(9):2994-7.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Promoter hypermethylation of FANCF plays an important role in the occurrence of ovarian cancer through disrupting Fanconi anemia-BRCA pathway. Wang Z, etal., Cancer Biol Ther. 2006 Mar;5(3):256-60. Epub 2006 Mar 5.
13. 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:8125298   PMID:9382107   PMID:11063725   PMID:11157805   PMID:11750104   PMID:12093742   PMID:12239156   PMID:12444097   PMID:12477932   PMID:12649160   PMID:12724401   PMID:12973351  
PMID:14702039   PMID:15082718   PMID:15124103   PMID:15262960   PMID:15489334   PMID:15502827   PMID:16116422   PMID:16127171   PMID:16169070   PMID:16474167   PMID:16621732   PMID:16712791  
PMID:16720839   PMID:16889989   PMID:17082180   PMID:17289582   PMID:17396147   PMID:17932744   PMID:18212739   PMID:18550849   PMID:18950845   PMID:19064572   PMID:19102630   PMID:19321451  
PMID:19536649   PMID:19690177   PMID:19801548   PMID:19813073   PMID:19965384   PMID:20064461   PMID:20301575   PMID:20301753   PMID:20347428   PMID:20347429   PMID:20450923   PMID:20496165  
PMID:21109493   PMID:21873635   PMID:22020285   PMID:22343915   PMID:22705371   PMID:23303816   PMID:23440494   PMID:24469828   PMID:24699063   PMID:24910428   PMID:24996439   PMID:26033879  
PMID:26277624   PMID:26385482   PMID:26507869   PMID:27714961   PMID:27986371   PMID:28215707   PMID:28440438   PMID:29656893   PMID:31180492   PMID:31288759   PMID:32296183   PMID:32814053  
PMID:32915143   PMID:35559673  


Genomics

Comparative Map Data
FANCF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381122,622,533 - 22,625,823 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1122,622,533 - 22,625,823 (-)EnsemblGRCh38hg38GRCh38
GRCh371122,644,079 - 22,647,369 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361122,600,655 - 22,603,963 (-)NCBINCBI36Build 36hg18NCBI36
Build 341122,600,654 - 22,603,963NCBI
Celera1122,777,941 - 22,781,250 (-)NCBICelera
Cytogenetic Map11p14.3NCBI
HuRef1122,327,266 - 22,330,575 (-)NCBIHuRef
CHM1_11122,643,695 - 22,647,004 (-)NCBICHM1_1
T2T-CHM13v2.01122,743,288 - 22,746,579 (-)NCBIT2T-CHM13v2.0
Fancf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39751,510,325 - 51,512,015 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl751,510,325 - 51,512,015 (-)EnsemblGRCm39 Ensembl
GRCm38751,860,577 - 51,862,267 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl751,860,577 - 51,862,267 (-)EnsemblGRCm38mm10GRCm38
MGSCv37759,115,947 - 59,117,637 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36759,115,947 - 59,117,624 (-)NCBIMGSCv36mm8
Celera749,233,676 - 49,235,406 (-)NCBICelera
Cytogenetic Map7B4NCBI
cM Map732.87NCBI
Fancf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81110,585,054 - 110,587,870 (-)NCBIGRCr8
mRatBN7.21101,449,120 - 101,451,936 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1101,450,389 - 101,451,923 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1106,857,994 - 106,860,810 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01115,329,884 - 115,332,700 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01108,633,029 - 108,635,845 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01107,229,516 - 107,232,321 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1107,231,292 - 107,232,305 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01108,272,291 - 108,274,234 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41101,664,895 - 101,666,720 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera195,615,737 - 95,618,542 (-)NCBICelera
Cytogenetic Map1q22NCBI
Fancf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554763,067,689 - 3,068,728 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554763,067,491 - 3,069,637 (-)NCBIChiLan1.0ChiLan1.0
FANCF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2924,912,428 - 24,915,178 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11124,876,586 - 24,881,158 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01122,634,301 - 22,637,885 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11122,542,426 - 22,546,147 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1122,544,052 - 22,545,176 (-)Ensemblpanpan1.1panPan2
FANCF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12144,253,308 - 44,256,221 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2144,255,134 - 44,256,618 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2143,728,664 - 43,731,582 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02145,370,190 - 45,373,442 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12144,370,738 - 44,373,650 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02144,542,654 - 44,545,584 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02144,935,521 - 44,938,442 (-)NCBIUU_Cfam_GSD_1.0
Fancf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494740,625,542 - 40,630,998 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049366543,298,193 - 3,301,251 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FANCF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl236,884,777 - 36,885,856 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1236,884,701 - 36,886,661 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2240,095,250 - 40,097,471 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FANCF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1142,377,150 - 42,381,653 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl142,378,883 - 42,380,007 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038139,681,806 - 139,685,541 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fancf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476613,583,664 - 13,585,684 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FANCF
416 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022725.4(FANCF):c.230_252del (p.Val77fs) deletion Fanconi anemia [RCV000472440]|Fanconi anemia complementation group F [RCV000006712] Chr11:22625559..22625581 [GRCh38]
Chr11:22647105..22647127 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) deletion Fanconi anemia [RCV001233686]|Fanconi anemia complementation group F [RCV000006713] Chr11:22625414..22625460 [GRCh38]
Chr11:22646960..22647006 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) microsatellite FANCF-related disorder [RCV004752688]|Fanconi anemia [RCV000820044]|Fanconi anemia complementation group F [RCV000006715]|not provided [RCV001588802]|not specified [RCV000121020] Chr11:22625326..22625327 [GRCh38]
Chr11:22646872..22646873 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic|not provided
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro) indel Fanconi anemia [RCV002535042]|Fanconi anemia complementation group F [RCV002485842]|not provided [RCV000723145] Chr11:22625492..22625493 [GRCh38]
Chr11:22647038..22647039 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.547G>A (p.Glu183Lys) single nucleotide variant Fanconi anemia [RCV000547221] Chr11:22625264 [GRCh38]
Chr11:22646810 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.672C>T (p.Pro224=) single nucleotide variant FANCF-related disorder [RCV003960257]|Fanconi anemia [RCV001490439] Chr11:22625139 [GRCh38]
Chr11:22646685 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter) single nucleotide variant Fanconi anemia complementation group F [RCV000006714] Chr11:22625795 [GRCh38]
Chr11:22647341 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter) single nucleotide variant Fanconi anemia complementation group F [RCV000006716] Chr11:22625484 [GRCh38]
Chr11:22647030 [GRCh37]
Chr11:11p14.3		 pathogenic
GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1 copy number loss See cases [RCV000052647] Chr11:22115602..25375696 [GRCh38]
Chr11:22137148..25397242 [GRCh37]
Chr11:22093724..25353818 [NCBI36]
Chr11:11p14.3		 pathogenic
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_022725.3(FANCF):c.484_485delCT (p.Leu162Aspfs) deletion AllHighlyPenetrant [RCV000121020]|not specified [RCV000121020] Chr11:22625326..22625327 [GRCh38]
Chr11:22646872..22646873 [GRCh37]
Chr11:11p14.3		 not provided
NM_022725.4(FANCF):c.256C>T (p.Leu86Phe) single nucleotide variant not specified [RCV000121021] Chr11:22625555 [GRCh38]
Chr11:22647101 [GRCh37]
Chr11:11p14.3		 not provided
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) single nucleotide variant Fanconi anemia [RCV000395772]|Fanconi anemia complementation group F [RCV000764968]|not provided [RCV000421185]|not specified [RCV000121022] Chr11:22625426 [GRCh38]
Chr11:22646972 [GRCh37]
Chr11:11p14.3		 uncertain significance|not provided
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) single nucleotide variant Fanconi anemia [RCV000857458]|Fanconi anemia complementation group F [RCV000227171]|Malignant tumor of breast [RCV001269490]|Ovarian cancer [RCV003153394]|not provided [RCV001556897]|not specified [RCV000121023] Chr11:22625254 [GRCh38]
Chr11:22646800 [GRCh37]
Chr11:11p14.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_022725.4(FANCF):c.955C>T (p.Pro319Ser) single nucleotide variant not specified [RCV000121024] Chr11:22624856 [GRCh38]
Chr11:22646402 [GRCh37]
Chr11:11p14.3		 not provided
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) single nucleotide variant Fanconi anemia [RCV000231249]|Fanconi anemia complementation group F [RCV001104345]|not provided [RCV001569465]|not specified [RCV000121025] Chr11:22624852 [GRCh38]
Chr11:22646398 [GRCh37]
Chr11:11p14.3		 benign|likely benign|not provided
NM_022725.4(FANCF):c.1041G>T (p.Trp347Cys) single nucleotide variant not specified [RCV000121026] Chr11:22624770 [GRCh38]
Chr11:22646316 [GRCh37]
Chr11:11p14.3		 not provided
NM_022725.4(FANCF):c.179G>A (p.Arg60Gln) single nucleotide variant not specified [RCV000121027] Chr11:22625632 [GRCh38]
Chr11:22647178 [GRCh37]
Chr11:11p14.3		 not provided
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) single nucleotide variant Fanconi anemia [RCV000232655]|Fanconi anemia complementation group F [RCV001094015]|not provided [RCV000857633]|not specified [RCV000121028] Chr11:22625438 [GRCh38]
Chr11:22646984 [GRCh37]
Chr11:11p14.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu) single nucleotide variant Fanconi anemia [RCV000457324]|not specified [RCV000121029] Chr11:22625083 [GRCh38]
Chr11:22646629 [GRCh37]
Chr11:11p14.3		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_022725.4(FANCF):c.153T>A (p.His51Gln) single nucleotide variant Fanconi anemia [RCV000475785]|not specified [RCV000121030] Chr11:22625658 [GRCh38]
Chr11:22647204 [GRCh37]
Chr11:11p14.3		 uncertain significance|not provided
NM_022725.4(FANCF):c.581A>G (p.Glu194Gly) single nucleotide variant Fanconi anemia complementation group F [RCV001292639] Chr11:22625230 [GRCh38]
Chr11:22646776 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly) single nucleotide variant Fanconi anemia [RCV001871750]|Fanconi anemia complementation group F [RCV001294131] Chr11:22625252 [GRCh38]
Chr11:22646798 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.690del (p.Gly231fs) deletion Fanconi anemia [RCV002517907]|Fanconi anemia complementation group F [RCV000190586] Chr11:22625121 [GRCh38]
Chr11:22646667 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg) single nucleotide variant Fanconi anemia [RCV001863179]|Fanconi anemia complementation group F [RCV001294129] Chr11:22625473 [GRCh38]
Chr11:22647019 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3 copy number gain See cases [RCV000137849] Chr11:21838014..26738627 [GRCh38]
Chr11:21859560..26760174 [GRCh37]
Chr11:21816136..26716750 [NCBI36]
Chr11:11p15.1-14.2		 uncertain significance
GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1 copy number loss See cases [RCV000140704] Chr11:22195749..22953436 [GRCh38]
Chr11:22217295..22974982 [GRCh37]
Chr11:22173871..22931558 [NCBI36]
Chr11:11p14.3		 uncertain significance
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 copy number loss See cases [RCV000142499] Chr11:20079474..34463996 [GRCh38]
Chr11:20101020..34485543 [GRCh37]
Chr11:20057596..34442119 [NCBI36]
Chr11:11p15.1-13		 pathogenic
NM_022725.4(FANCF):c.883G>A (p.Val295Ile) single nucleotide variant Fanconi anemia [RCV000196284]|not provided [RCV002469058] Chr11:22624928 [GRCh38]
Chr11:22646474 [GRCh37]
Chr11:11p14.3		 benign|likely benign
NM_022725.4(FANCF):c.*1879T>C single nucleotide variant Fanconi anemia complementation group F [RCV000357901]|not specified [RCV000192595] Chr11:22622807 [GRCh38]
Chr11:22644353 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22646794-22851268)x3 copy number gain Breast ductal adenocarcinoma [RCV000207141] Chr11:22646794..22851268 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr) single nucleotide variant FANCF-related disorder [RCV003955369]|Fanconi anemia [RCV000229804]|Fanconi anemia complementation group F [RCV003316303]|Ovarian cancer [RCV003153540]|not specified [RCV001820763] Chr11:22625462 [GRCh38]
Chr11:22647008 [GRCh37]
Chr11:11p14.3		 likely pathogenic|likely benign|uncertain significance|no classifications from unflagged records
NM_022725.4(FANCF):c.624G>T (p.Ala208=) single nucleotide variant Fanconi anemia [RCV000230577]|not provided [RCV004718118] Chr11:22625187 [GRCh38]
Chr11:22646733 [GRCh37]
Chr11:11p14.3		 benign
NM_022725.4(FANCF):c.387C>T (p.Leu129=) single nucleotide variant Fanconi anemia [RCV000229355]|Fanconi anemia complementation group F [RCV001094014]|not provided [RCV001558142]|not specified [RCV000248466] Chr11:22625424 [GRCh38]
Chr11:22646970 [GRCh37]
Chr11:11p14.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022725.4(FANCF):c.465A>T (p.Pro155=) single nucleotide variant Fanconi anemia [RCV000233336]|Fanconi anemia complementation group F [RCV001094013]|not provided [RCV001091515]|not specified [RCV000501594] Chr11:22625346 [GRCh38]
Chr11:22646892 [GRCh37]
Chr11:11p14.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022725.4(FANCF):c.384A>C (p.Thr128=) single nucleotide variant Fanconi anemia [RCV001484593] Chr11:22625427 [GRCh38]
Chr11:22646973 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) single nucleotide variant Fanconi anemia [RCV000225823]|Fanconi anemia complementation group F [RCV000764969]|Hereditary cancer [RCV003492014]|not provided [RCV003884425]|not specified [RCV001820762] Chr11:22625570 [GRCh38]
Chr11:22647116 [GRCh37]
Chr11:11p14.3		 likely benign|uncertain significance
NM_022725.4(FANCF):c.786A>G (p.Leu262=) single nucleotide variant Fanconi anemia [RCV000234572]|Fanconi anemia complementation group F [RCV001093960]|not provided [RCV001706273]|not specified [RCV000245090] Chr11:22625025 [GRCh38]
Chr11:22646571 [GRCh37]
Chr11:11p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022725.4(FANCF):c.825G>A (p.Leu275=) single nucleotide variant Fanconi anemia [RCV000227286]|Fanconi anemia complementation group F [RCV001093959]|not provided [RCV001573004]|not specified [RCV000248205] Chr11:22624986 [GRCh38]
Chr11:22646532 [GRCh37]
Chr11:11p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022725.4(FANCF):c.633G>T (p.Gln211His) single nucleotide variant Fanconi anemia [RCV000320511]|Fanconi anemia complementation group F [RCV001093961]|not provided [RCV001358441]|not specified [RCV000239026] Chr11:22625178 [GRCh38]
Chr11:22646724 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.-10C>T single nucleotide variant Fanconi anemia [RCV002518652]|Fanconi anemia complementation group F [RCV000327717]|not provided [RCV000860380]|not specified [RCV000243715] Chr11:22625820 [GRCh38]
Chr11:22647366 [GRCh37]
Chr11:11p14.3		 benign
NM_022725.4(FANCF):c.96C>T (p.Arg32=) single nucleotide variant FANCF-related disorder [RCV003891967]|Fanconi anemia [RCV000367096]|Fanconi anemia complementation group F [RCV001094034]|not provided [RCV001706360] Chr11:22625715 [GRCh38]
Chr11:22647261 [GRCh37]
Chr11:11p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022725.4(FANCF):c.*1629C>T single nucleotide variant Fanconi anemia complementation group F [RCV000268710] Chr11:22623057 [GRCh38]
Chr11:22644603 [GRCh37]
Chr11:11p14.3		 benign|likely benign
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln) single nucleotide variant Fanconi anemia [RCV002520716]|Fanconi anemia complementation group F [RCV000285389] Chr11:22625264 [GRCh38]
Chr11:22646810 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*819C>T single nucleotide variant Fanconi anemia complementation group F [RCV000372401]|not provided [RCV004718415] Chr11:22623867 [GRCh38]
Chr11:22645413 [GRCh37]
Chr11:11p14.3		 benign
NM_022725.4(FANCF):c.436C>G (p.Leu146Val) single nucleotide variant Fanconi anemia [RCV001850617]|Fanconi anemia complementation group F [RCV000285884]|not specified [RCV003488515] Chr11:22625375 [GRCh38]
Chr11:22646921 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*624G>C single nucleotide variant Fanconi anemia complementation group F [RCV000400651] Chr11:22624062 [GRCh38]
Chr11:22645608 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.3(FANCF):c.-31T>C single nucleotide variant Fanconi anemia complementation group F [RCV000268789]|not provided [RCV004693028] Chr11:22625841 [GRCh38]
Chr11:22647387 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*207C>T single nucleotide variant Fanconi anemia complementation group F [RCV000274375]|not provided [RCV001636869] Chr11:22624479 [GRCh38]
Chr11:22646025 [GRCh37]
Chr11:11p14.3		 benign
NM_022725.4(FANCF):c.2T>C (p.Met1Thr) single nucleotide variant Fanconi anemia [RCV002522195]|Fanconi anemia complementation group F [RCV000272674] Chr11:22625809 [GRCh38]
Chr11:22647355 [GRCh37]
Chr11:11p14.3		 pathogenic|uncertain significance
NM_022725.3(FANCF):c.-21A>G single nucleotide variant Fanconi anemia complementation group F [RCV000381956] Chr11:22625831 [GRCh38]
Chr11:22647377 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1094A>G single nucleotide variant Fanconi anemia complementation group F [RCV000334044] Chr11:22623592 [GRCh38]
Chr11:22645138 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.199A>C (p.Arg67=) single nucleotide variant Fanconi anemia [RCV000276248]|Fanconi anemia complementation group F [RCV001094033]|not provided [RCV004706839]|not specified [RCV001820900] Chr11:22625612 [GRCh38]
Chr11:22647158 [GRCh37]
Chr11:11p14.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022725.4(FANCF):c.*1119T>A single nucleotide variant Fanconi anemia complementation group F [RCV000295407] Chr11:22623567 [GRCh38]
Chr11:22645113 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*708C>T single nucleotide variant Fanconi anemia complementation group F [RCV000337277] Chr11:22623978 [GRCh38]
Chr11:22645524 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu) single nucleotide variant FANCF-related disorder [RCV003967873]|Fanconi anemia [RCV000337238]|Fanconi anemia complementation group F [RCV001094016]|not specified [RCV001820899] Chr11:22625461 [GRCh38]
Chr11:22647007 [GRCh37]
Chr11:11p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022725.4(FANCF):c.*1630G>A single nucleotide variant Fanconi anemia complementation group F [RCV000361005] Chr11:22623056 [GRCh38]
Chr11:22644602 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*709G>T single nucleotide variant Fanconi anemia complementation group F [RCV000279933] Chr11:22623977 [GRCh38]
Chr11:22645523 [GRCh37]
Chr11:11p14.3		 likely benign|uncertain significance
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys) single nucleotide variant Fanconi anemia [RCV000316837]|Fanconi anemia complementation group F [RCV001093958]|not specified [RCV003488514] Chr11:22624951 [GRCh38]
Chr11:22646497 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn) single nucleotide variant Fanconi anemia complementation group F [RCV000259214] Chr11:22624805 [GRCh38]
Chr11:22646351 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*7C>G single nucleotide variant Fanconi anemia complementation group F [RCV000370324] Chr11:22624679 [GRCh38]
Chr11:22646225 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.210C>T (p.Gly70=) single nucleotide variant Fanconi anemia [RCV002056198]|Fanconi anemia complementation group F [RCV000370781] Chr11:22625601 [GRCh38]
Chr11:22647147 [GRCh37]
Chr11:11p14.3		 likely benign|uncertain significance
NM_022725.4(FANCF):c.*1509G>C single nucleotide variant Fanconi anemia complementation group F [RCV000272461] Chr11:22623177 [GRCh38]
Chr11:22644723 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*650ATTAA[1] microsatellite Fanconi anemia [RCV000283364] Chr11:22624027..22624031 [GRCh38]
Chr11:22645573..22645577 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*597G>A single nucleotide variant Fanconi anemia complementation group F [RCV000306189] Chr11:22624089 [GRCh38]
Chr11:22645635 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*499T>C single nucleotide variant Fanconi anemia complementation group F [RCV000398643] Chr11:22624187 [GRCh38]
Chr11:22645733 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1338dup duplication Fanconi anemia [RCV000329822]|not provided [RCV004693027] Chr11:22623347..22623348 [GRCh38]
Chr11:22644893..22644894 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*319A>G single nucleotide variant Fanconi anemia complementation group F [RCV000309471] Chr11:22624367 [GRCh38]
Chr11:22645913 [GRCh37]
Chr11:11p14.3		 benign|likely benign
NM_022725.4(FANCF):c.*106T>C single nucleotide variant Fanconi anemia complementation group F [RCV000332044]|not provided [RCV004718417] Chr11:22624580 [GRCh38]
Chr11:22646126 [GRCh37]
Chr11:11p14.3		 benign|likely benign
NM_022725.4(FANCF):c.101C>T (p.Ala34Val) single nucleotide variant Fanconi anemia [RCV001322800]|Fanconi anemia complementation group F [RCV000312385]|not provided [RCV003237815] Chr11:22625710 [GRCh38]
Chr11:22647256 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*695dup duplication Fanconi anemia [RCV000394287] Chr11:22623990..22623991 [GRCh38]
Chr11:22645536..22645537 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1190C>A single nucleotide variant Fanconi anemia complementation group F [RCV000387334] Chr11:22623496 [GRCh38]
Chr11:22645042 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*632G>A single nucleotide variant Fanconi anemia complementation group F [RCV000341199]|not provided [RCV004718416] Chr11:22624054 [GRCh38]
Chr11:22645600 [GRCh37]
Chr11:11p14.3		 benign
NM_022725.4(FANCF):c.*2123G>A single nucleotide variant Fanconi anemia complementation group F [RCV000390427] Chr11:22622563 [GRCh38]
Chr11:22644109 [GRCh37]
Chr11:11p14.3		 benign|uncertain significance
NM_022725.4(FANCF):c.881G>A (p.Trp294Ter) single nucleotide variant not provided [RCV000722911] Chr11:22624930 [GRCh38]
Chr11:22646476 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*565A>G single nucleotide variant Fanconi anemia complementation group F [RCV000363183] Chr11:22624121 [GRCh38]
Chr11:22645667 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1632G>C single nucleotide variant Fanconi anemia complementation group F [RCV000303991] Chr11:22623054 [GRCh38]
Chr11:22644600 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1525T>G single nucleotide variant Fanconi anemia complementation group F [RCV000364696] Chr11:22623161 [GRCh38]
Chr11:22644707 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1696G>A single nucleotide variant Fanconi anemia complementation group F [RCV000402134] Chr11:22622990 [GRCh38]
Chr11:22644536 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*287C>T single nucleotide variant Fanconi anemia complementation group F [RCV000366559] Chr11:22624399 [GRCh38]
Chr11:22645945 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.261_263del (p.His88del) deletion Fanconi anemia [RCV000390389] Chr11:22625548..22625550 [GRCh38]
Chr11:22647094..22647096 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1535T>A single nucleotide variant Fanconi anemia complementation group F [RCV000326283] Chr11:22623151 [GRCh38]
Chr11:22644697 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*2071A>G single nucleotide variant Fanconi anemia complementation group F [RCV000300730] Chr11:22622615 [GRCh38]
Chr11:22644161 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.626T>C (p.Leu209Pro) single nucleotide variant Fanconi anemia [RCV000534826] Chr11:22625185 [GRCh38]
Chr11:22646731 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg) single nucleotide variant Fanconi anemia [RCV000557500]|Fanconi anemia complementation group F [RCV000764967]|Inborn genetic diseases [RCV002527669]|not provided [RCV001545711]|not specified [RCV001821485] Chr11:22625238 [GRCh38]
Chr11:22646784 [GRCh37]
Chr11:11p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022725.4(FANCF):c.885T>G (p.Val295=) single nucleotide variant FANCF-related disorder [RCV003960258]|Fanconi anemia [RCV000559981] Chr11:22624926 [GRCh38]
Chr11:22646472 [GRCh37]
Chr11:11p14.3		 likely benign
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Aniridia 1 [RCV000420782] Chr11:18536224..31923308 [GRCh37]
Chr11:11p15.1-13		 pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1 copy number loss Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400] Chr11:21586131..33168232 [GRCh37]
Chr11:11p15.1-13		 pathogenic
NM_022725.4(FANCF):c.359G>A (p.Gly120Asp) single nucleotide variant not provided [RCV000443199] Chr11:22625452 [GRCh38]
Chr11:22646998 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.469C>T (p.Leu157Phe) single nucleotide variant Fanconi anemia [RCV000462923] Chr11:22625342 [GRCh38]
Chr11:22646888 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.687A>T (p.Ser229=) single nucleotide variant FANCF-related disorder [RCV003925356]|Fanconi anemia [RCV000470799]|not provided [RCV003389810]|not specified [RCV001821340] Chr11:22625124 [GRCh38]
Chr11:22646670 [GRCh37]
Chr11:11p14.3		 likely benign
NC_000011.9:g.(?_22644079)_(22647387_?)dup duplication Fanconi anemia [RCV000464232] Chr11:22622533..22625841 [GRCh38]
Chr11:22644079..22647387 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.258C>A (p.Leu86=) single nucleotide variant Fanconi anemia [RCV001444309] Chr11:22625553 [GRCh38]
Chr11:22647099 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.889A>G (p.Thr297Ala) single nucleotide variant Fanconi anemia [RCV000472186] Chr11:22624922 [GRCh38]
Chr11:22646468 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.356C>T (p.Pro119Leu) single nucleotide variant Fanconi anemia [RCV000468810] Chr11:22625455 [GRCh38]
Chr11:22647001 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser) single nucleotide variant Fanconi anemia [RCV000457751]|Fanconi anemia complementation group F [RCV002506120] Chr11:22625365 [GRCh38]
Chr11:22646911 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter) single nucleotide variant Fanconi anemia [RCV001324804]|Fanconi anemia complementation group F [RCV000779056]|not provided [RCV000482395]|not specified [RCV003155201] Chr11:22624724 [GRCh38]
Chr11:22646270 [GRCh37]
Chr11:11p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022725.4(FANCF):c.90C>T (p.Thr30=) single nucleotide variant FANCF-related disorder [RCV003899972]|Fanconi anemia [RCV000462065] Chr11:22625721 [GRCh38]
Chr11:22647267 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.2T>G (p.Met1Arg) single nucleotide variant Fanconi anemia [RCV000462200] Chr11:22625809 [GRCh38]
Chr11:22647355 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic
NM_022725.4(FANCF):c.67G>T (p.Val23Phe) single nucleotide variant Fanconi anemia [RCV000469885]|Fanconi anemia complementation group F [RCV002480392] Chr11:22625744 [GRCh38]
Chr11:22647290 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.640T>C (p.Leu214=) single nucleotide variant Fanconi anemia [RCV000462486] Chr11:22625171 [GRCh38]
Chr11:22646717 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.352G>T (p.Gly118Cys) single nucleotide variant Fanconi anemia [RCV000462532] Chr11:22625459 [GRCh38]
Chr11:22647005 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.891T>G (p.Thr297=) single nucleotide variant Fanconi anemia [RCV001494714] Chr11:22624920 [GRCh38]
Chr11:22646466 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.246C>T (p.Asn82=) single nucleotide variant Fanconi anemia [RCV000477525]|not provided [RCV004707301]|not specified [RCV001821339] Chr11:22625565 [GRCh38]
Chr11:22647111 [GRCh37]
Chr11:11p14.3		 benign|likely benign
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro) single nucleotide variant Fanconi anemia [RCV001043635]|Fanconi anemia complementation group F [RCV000764966]|not provided [RCV001194789]|not specified [RCV000499436] Chr11:22625164 [GRCh38]
Chr11:22646710 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.529G>A (p.Val177Met) single nucleotide variant not specified [RCV000500151] Chr11:22625282 [GRCh38]
Chr11:22646828 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_022725.4(FANCF):c.993C>G (p.Thr331=) single nucleotide variant Fanconi anemia [RCV000630996] Chr11:22624818 [GRCh38]
Chr11:22646364 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.907C>T (p.Pro303Ser) single nucleotide variant Fanconi anemia [RCV000533888] Chr11:22624904 [GRCh38]
Chr11:22646450 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22026376-23809369)x3 copy number gain not provided [RCV000585511] Chr11:22026376..23809369 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.14T>C (p.Leu5Pro) single nucleotide variant Fanconi anemia [RCV000558372]|Fanconi anemia complementation group F [RCV002497057]|not provided [RCV003151784] Chr11:22625797 [GRCh38]
Chr11:22647343 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_022725.4(FANCF):c.96_98dup (p.Arg33dup) duplication Fanconi anemia [RCV000630900] Chr11:22625712..22625713 [GRCh38]
Chr11:22647258..22647259 [GRCh37]
Chr11:11p14.3		 uncertain significance
Single allele deletion not provided [RCV000677987] Chr11:22219999..22687901 [GRCh38]
Chr11:22241544..22709446 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro) single nucleotide variant Fanconi anemia [RCV000698398]|Fanconi anemia complementation group F [RCV001766516]|not provided [RCV003238187] Chr11:22625662 [GRCh38]
Chr11:22647208 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.795C>A (p.Ser265Arg) single nucleotide variant Fanconi anemia [RCV000685537]|Fanconi anemia complementation group F [RCV000764965] Chr11:22625016 [GRCh38]
Chr11:22646562 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.936A>T (p.Gln312His) single nucleotide variant Fanconi anemia [RCV000686988]|Fanconi anemia complementation group F [RCV002499221]|not specified [RCV001816700] Chr11:22624875 [GRCh38]
Chr11:22646421 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.49G>T (p.Val17Phe) single nucleotide variant Fanconi anemia [RCV000706631] Chr11:22625762 [GRCh38]
Chr11:22647308 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.128A>C (p.His43Pro) single nucleotide variant Fanconi anemia [RCV000695994] Chr11:22625683 [GRCh38]
Chr11:22647229 [GRCh37]
Chr11:11p14.3		 uncertain significance
NC_000011.10:g.22625955T>G single nucleotide variant not provided [RCV001574926] Chr11:22625955 [GRCh38]
Chr11:22647501 [GRCh37]
Chr11:11p14.3		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_022725.4(FANCF):c.873A>G (p.Lys291=) single nucleotide variant Fanconi anemia [RCV000861878]|not provided [RCV004808900]|not specified [RCV001816933] Chr11:22624938 [GRCh38]
Chr11:22646484 [GRCh37]
Chr11:11p14.3		 likely benign|uncertain significance
NM_022725.4(FANCF):c.301C>G (p.Arg101Gly) single nucleotide variant Fanconi anemia [RCV001046502] Chr11:22625510 [GRCh38]
Chr11:22647056 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser) single nucleotide variant Fanconi anemia [RCV000870754]|not specified [RCV001817000] Chr11:22625399 [GRCh38]
Chr11:22646945 [GRCh37]
Chr11:11p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022725.4(FANCF):c.234G>A (p.Pro78=) single nucleotide variant Fanconi anemia [RCV000868000]|not provided [RCV003392648] Chr11:22625577 [GRCh38]
Chr11:22647123 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.21C>T (p.His7=) single nucleotide variant Fanconi anemia [RCV001500003] Chr11:22625790 [GRCh38]
Chr11:22647336 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.832C>T (p.Leu278=) single nucleotide variant not provided [RCV000879654] Chr11:22624979 [GRCh38]
Chr11:22646525 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.877A>G (p.Ile293Val) single nucleotide variant Fanconi anemia [RCV001059241] Chr11:22624934 [GRCh38]
Chr11:22646480 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1089A>C (p.Gln363His) single nucleotide variant Fanconi anemia [RCV001051155] Chr11:22624722 [GRCh38]
Chr11:22646268 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.772G>A (p.Gly258Arg) single nucleotide variant Fanconi anemia [RCV001052297] Chr11:22625039 [GRCh38]
Chr11:22646585 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.123dup (p.Arg42fs) duplication Fanconi anemia [RCV001050876] Chr11:22625687..22625688 [GRCh38]
Chr11:22647233..22647234 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.258C>T (p.Leu86=) single nucleotide variant Fanconi anemia [RCV000871258] Chr11:22625553 [GRCh38]
Chr11:22647099 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp) single nucleotide variant FANCF-related disorder [RCV003908201]|Fanconi anemia [RCV000864580]|not provided [RCV001311755] Chr11:22625663 [GRCh38]
Chr11:22647209 [GRCh37]
Chr11:11p14.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022725.4(FANCF):c.279C>T (p.Leu93=) single nucleotide variant Fanconi anemia [RCV000870427]|Fanconi anemia complementation group F [RCV001107768]|not specified [RCV001816996] Chr11:22625532 [GRCh38]
Chr11:22647078 [GRCh37]
Chr11:11p14.3		 likely benign|uncertain significance
NM_022725.4(FANCF):c.923A>G (p.His308Arg) single nucleotide variant Fanconi anemia [RCV000806001] Chr11:22624888 [GRCh38]
Chr11:22646434 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.701G>A (p.Ser234Asn) single nucleotide variant Fanconi anemia [RCV000797359] Chr11:22625110 [GRCh38]
Chr11:22646656 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser) single nucleotide variant Fanconi anemia [RCV000803438]|Fanconi anemia complementation group F [RCV002477842] Chr11:22625600 [GRCh38]
Chr11:22647146 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser) single nucleotide variant Fanconi anemia [RCV000816473]|Fanconi anemia complementation group F [RCV002507427] Chr11:22625174 [GRCh38]
Chr11:22646720 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.65A>G (p.Tyr22Cys) single nucleotide variant Fanconi anemia [RCV000818361] Chr11:22625746 [GRCh38]
Chr11:22647292 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.489G>C (p.Met163Ile) single nucleotide variant Fanconi anemia [RCV000820447]|Fanconi anemia complementation group F [RCV002487831] Chr11:22625322 [GRCh38]
Chr11:22646868 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1 copy number loss not provided [RCV000848170] Chr11:22024933..22717219 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1 copy number loss not provided [RCV000848171] Chr11:22024933..22717219 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22619798-23441691)x1 copy number loss not provided [RCV000846067] Chr11:22619798..23441691 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.943dup (p.Cys315fs) duplication Fanconi anemia [RCV000824594]|Fanconi anemia complementation group F [RCV003461291] Chr11:22624867..22624868 [GRCh38]
Chr11:22646413..22646414 [GRCh37]
Chr11:11p14.3		 likely pathogenic|uncertain significance
GRCh37/hg19 11p14.3(chr11:22240672-22739036)x1 copy number loss not provided [RCV001006394] Chr11:22240672..22739036 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.37G>A (p.Glu13Lys) single nucleotide variant Fanconi anemia [RCV001046518] Chr11:22625774 [GRCh38]
Chr11:22647320 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.986T>C (p.Leu329Pro) single nucleotide variant Fanconi anemia [RCV001065067] Chr11:22624825 [GRCh38]
Chr11:22646371 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4 copy number gain not provided [RCV000847535] Chr11:21370750..23441691 [GRCh37]
Chr11:11p15.1-14.3		 uncertain significance
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) deletion FANCF-related disorder [RCV004753158]|Fanconi anemia [RCV003769334]|Fanconi anemia complementation group F [RCV001194788]|not provided [RCV000994586] Chr11:22625207 [GRCh38]
Chr11:22646753 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic
NM_022725.4(FANCF):c.457G>A (p.Glu153Lys) single nucleotide variant Fanconi anemia [RCV001217021] Chr11:22625354 [GRCh38]
Chr11:22646900 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.544G>A (p.Ala182Thr) single nucleotide variant Fanconi anemia [RCV001234348] Chr11:22625267 [GRCh38]
Chr11:22646813 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.91G>A (p.Val31Met) single nucleotide variant Fanconi anemia [RCV001239750]|Fanconi anemia complementation group F [RCV002480789]|not provided [RCV001760264] Chr11:22625720 [GRCh38]
Chr11:22647266 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro) single nucleotide variant Fanconi anemia [RCV001238441]|Fanconi anemia complementation group F [RCV002491774]|not specified [RCV001819936] Chr11:22625479 [GRCh38]
Chr11:22647025 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.689C>G (p.Pro230Arg) single nucleotide variant Fanconi anemia [RCV001241085] Chr11:22625122 [GRCh38]
Chr11:22646668 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1064G>A (p.Arg355His) single nucleotide variant Fanconi anemia [RCV003635939]|Fanconi anemia complementation group F [RCV001104043] Chr11:22624747 [GRCh38]
Chr11:22646293 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.594_595del (p.Asn199fs) deletion Fanconi anemia [RCV001615378] Chr11:22625216..22625217 [GRCh38]
Chr11:22646762..22646763 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.752T>G (p.Phe251Cys) single nucleotide variant Inborn genetic diseases [RCV003275577] Chr11:22625059 [GRCh38]
Chr11:22646605 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.804A>G (p.Pro268=) single nucleotide variant not provided [RCV000900577] Chr11:22625007 [GRCh38]
Chr11:22646553 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.837A>G (p.Thr279=) single nucleotide variant Fanconi anemia [RCV000862831] Chr11:22624974 [GRCh38]
Chr11:22646520 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.729G>A (p.Gly243=) single nucleotide variant Fanconi anemia [RCV002542180] Chr11:22625082 [GRCh38]
Chr11:22646628 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.580G>A (p.Glu194Lys) single nucleotide variant Fanconi anemia [RCV001218647] Chr11:22625231 [GRCh38]
Chr11:22646777 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.19C>G (p.His7Asp) single nucleotide variant Fanconi anemia [RCV001226126] Chr11:22625792 [GRCh38]
Chr11:22647338 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*738T>G single nucleotide variant Fanconi anemia complementation group F [RCV001107011]|not provided [RCV004718818] Chr11:22623948 [GRCh38]
Chr11:22645494 [GRCh37]
Chr11:11p14.3		 benign
NM_022725.4(FANCF):c.*2074A>G single nucleotide variant Fanconi anemia complementation group F [RCV001107570] Chr11:22622612 [GRCh38]
Chr11:22644158 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*461G>T single nucleotide variant Fanconi anemia complementation group F [RCV001107666] Chr11:22624225 [GRCh38]
Chr11:22645771 [GRCh37]
Chr11:11p14.3		 benign
NM_022725.4(FANCF):c.192C>A (p.Asn64Lys) single nucleotide variant Fanconi anemia [RCV001223940] Chr11:22625619 [GRCh38]
Chr11:22647165 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.911G>C (p.Trp304Ser) single nucleotide variant Fanconi anemia [RCV001238473]|Fanconi anemia complementation group F [RCV001788429] Chr11:22624900 [GRCh38]
Chr11:22646446 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.618G>C (p.Ala206=) single nucleotide variant Fanconi anemia [RCV001500147]|not specified [RCV001818909] Chr11:22625193 [GRCh38]
Chr11:22646739 [GRCh37]
Chr11:11p14.3		 likely benign|uncertain significance
NM_022725.4(FANCF):c.*186T>G single nucleotide variant not provided [RCV001563061] Chr11:22624500 [GRCh38]
Chr11:22646046 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) single nucleotide variant Fanconi anemia [RCV002271604]|Fanconi anemia complementation group F [RCV001194785]|not provided [RCV000994587] Chr11:22625618 [GRCh38]
Chr11:22647164 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_022725.4(FANCF):c.*286A>G single nucleotide variant Fanconi anemia complementation group F [RCV001104042] Chr11:22624400 [GRCh38]
Chr11:22645946 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1884T>C single nucleotide variant Fanconi anemia complementation group F [RCV001107571] Chr11:22622802 [GRCh38]
Chr11:22644348 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*555T>C single nucleotide variant Fanconi anemia complementation group F [RCV001107664] Chr11:22624131 [GRCh38]
Chr11:22645677 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*857G>A single nucleotide variant Fanconi anemia complementation group F [RCV001104236] Chr11:22623829 [GRCh38]
Chr11:22645375 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.364C>G (p.Arg122Gly) single nucleotide variant Fanconi anemia [RCV001245827]|Fanconi anemia complementation group F [RCV002484370]|Inborn genetic diseases [RCV004619586] Chr11:22625447 [GRCh38]
Chr11:22646993 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.680A>G (p.His227Arg) single nucleotide variant Fanconi anemia [RCV001856407]|Fanconi anemia complementation group F [RCV001104346] Chr11:22625131 [GRCh38]
Chr11:22646677 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys) single nucleotide variant Fanconi anemia complementation group F [RCV001104044] Chr11:22624748 [GRCh38]
Chr11:22646294 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*412T>A single nucleotide variant Fanconi anemia complementation group F [RCV001107667] Chr11:22624274 [GRCh38]
Chr11:22645820 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*336C>A single nucleotide variant Fanconi anemia complementation group F [RCV001107668] Chr11:22624350 [GRCh38]
Chr11:22645896 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1		 pathogenic
NM_022725.4(FANCF):c.84del (p.Ala29fs) deletion Fanconi anemia [RCV001383708]|Fanconi anemia complementation group F [RCV001194784] Chr11:22625727 [GRCh38]
Chr11:22647273 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic
NM_022725.4(FANCF):c.322C>T (p.Arg108Cys) single nucleotide variant Fanconi anemia [RCV001214094] Chr11:22625489 [GRCh38]
Chr11:22647035 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.62C>G (p.Thr21Ser) single nucleotide variant Fanconi anemia [RCV001042780]|Fanconi anemia complementation group F [RCV002481898] Chr11:22625749 [GRCh38]
Chr11:22647295 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.219del (p.Arg74fs) deletion Fanconi anemia [RCV001382650]|Fanconi anemia complementation group F [RCV001194786] Chr11:22625592 [GRCh38]
Chr11:22647138 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.*1512A>G single nucleotide variant Fanconi anemia complementation group F [RCV001103949] Chr11:22623174 [GRCh38]
Chr11:22644720 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1440A>G single nucleotide variant Fanconi anemia complementation group F [RCV001103951] Chr11:22623246 [GRCh38]
Chr11:22644792 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1420A>G single nucleotide variant Fanconi anemia complementation group F [RCV001104235] Chr11:22623266 [GRCh38]
Chr11:22644812 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.380A>G (p.Glu127Gly) single nucleotide variant Fanconi anemia [RCV001208167]|Fanconi anemia complementation group F [RCV002497714] Chr11:22625431 [GRCh38]
Chr11:22646977 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.496C>T (p.Gln166Ter) single nucleotide variant Fanconi anemia complementation group F [RCV001194787] Chr11:22625315 [GRCh38]
Chr11:22646861 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.233C>T (p.Pro78Leu) single nucleotide variant Fanconi anemia [RCV001247346] Chr11:22625578 [GRCh38]
Chr11:22647124 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.796C>T (p.Arg266Cys) single nucleotide variant Fanconi anemia [RCV001230558] Chr11:22625015 [GRCh38]
Chr11:22646561 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.58A>G (p.Thr20Ala) single nucleotide variant Fanconi anemia [RCV001202281]|Fanconi anemia complementation group F [RCV002497690] Chr11:22625753 [GRCh38]
Chr11:22647299 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.670C>A (p.Pro224Thr) single nucleotide variant Fanconi anemia [RCV001062524] Chr11:22625141 [GRCh38]
Chr11:22646687 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*1484G>A single nucleotide variant Fanconi anemia complementation group F [RCV001103950] Chr11:22623202 [GRCh38]
Chr11:22644748 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.*782A>G single nucleotide variant Fanconi anemia complementation group F [RCV001104237] Chr11:22623904 [GRCh38]
Chr11:22645450 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu) single nucleotide variant Fanconi anemia [RCV001306831]|Fanconi anemia complementation group F [RCV001104344] Chr11:22624841 [GRCh38]
Chr11:22646387 [GRCh37]
Chr11:11p14.3		 benign|uncertain significance
GRCh37/hg19 11p14.3(chr11:22501364-22701957)x3 copy number gain not provided [RCV001259576] Chr11:22501364..22701957 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe) single nucleotide variant Fanconi anemia [RCV001859242]|Fanconi anemia complementation group F [RCV001294130]|Inborn genetic diseases [RCV003166632] Chr11:22625359 [GRCh38]
Chr11:22646905 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.502G>T (p.Glu168Ter) single nucleotide variant Fanconi anemia, complementation group F [RCV001329913] Chr11:22625309 [GRCh38]
Chr11:22646855 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.583C>A (p.Arg195Ser) single nucleotide variant Fanconi anemia [RCV001342645]|Fanconi anemia complementation group F [RCV002486387] Chr11:22625228 [GRCh38]
Chr11:22646774 [GRCh37]
Chr11:11p14.3		 uncertain significance
NC_000011.9:g.(?_22646226)_(22647362_?)dup duplication Fanconi anemia [RCV001341076] Chr11:22646226..22647362 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.656A>G (p.Gln219Arg) single nucleotide variant Fanconi anemia [RCV001340585]|Inborn genetic diseases [RCV003169616] Chr11:22625155 [GRCh38]
Chr11:22646701 [GRCh37]
Chr11:11p14.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_022725.4(FANCF):c.353G>T (p.Gly118Val) single nucleotide variant Fanconi anemia complementation group F [RCV001281065] Chr11:22625458 [GRCh38]
Chr11:22647004 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.89C>G (p.Thr30Ser) single nucleotide variant Fanconi anemia [RCV001365229]|Fanconi anemia complementation group F [RCV002504599]|Inborn genetic diseases [RCV004036935] Chr11:22625722 [GRCh38]
Chr11:22647268 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser) single nucleotide variant Fanconi anemia [RCV001298328]|Fanconi anemia complementation group F [RCV002499547] Chr11:22624990 [GRCh38]
Chr11:22646536 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.221G>A (p.Arg74Gln) single nucleotide variant Fanconi anemia [RCV001344175] Chr11:22625590 [GRCh38]
Chr11:22647136 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.251A>G (p.Gln84Arg) single nucleotide variant Fanconi anemia [RCV001322301] Chr11:22625560 [GRCh38]
Chr11:22647106 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.992C>T (p.Thr331Ile) single nucleotide variant Fanconi anemia [RCV001361986]|Fanconi anemia complementation group F [RCV002488103]|Inborn genetic diseases [RCV004036820] Chr11:22624819 [GRCh38]
Chr11:22646365 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.116G>A (p.Arg39His) single nucleotide variant Fanconi anemia [RCV001319619] Chr11:22625695 [GRCh38]
Chr11:22647241 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.683A>G (p.Lys228Arg) single nucleotide variant Fanconi anemia [RCV001309348] Chr11:22625128 [GRCh38]
Chr11:22646674 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.617C>T (p.Ala206Val) single nucleotide variant Fanconi anemia [RCV001304748]|Fanconi anemia complementation group F [RCV002486183]|Inborn genetic diseases [RCV002543109] Chr11:22625194 [GRCh38]
Chr11:22646740 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.699G>A (p.Gly233=) single nucleotide variant Fanconi anemia [RCV001421951] Chr11:22625112 [GRCh38]
Chr11:22646658 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg) single nucleotide variant Fanconi anemia [RCV001297948]|Fanconi anemia complementation group F [RCV002493567] Chr11:22625728 [GRCh38]
Chr11:22647274 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.69C>T (p.Val23=) single nucleotide variant Fanconi anemia [RCV001422000] Chr11:22625742 [GRCh38]
Chr11:22647288 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.433A>G (p.Met145Val) single nucleotide variant Fanconi anemia [RCV001298825]|Fanconi anemia complementation group F [RCV002499550] Chr11:22625378 [GRCh38]
Chr11:22646924 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.372C>G (p.Ala124=) single nucleotide variant Fanconi anemia [RCV001490453] Chr11:22625439 [GRCh38]
Chr11:22646985 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.24G>A (p.Leu8=) single nucleotide variant Fanconi anemia [RCV001427885] Chr11:22625787 [GRCh38]
Chr11:22647333 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.1026T>C (p.Pro342=) single nucleotide variant Fanconi anemia [RCV001483339] Chr11:22624785 [GRCh38]
Chr11:22646331 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.1002G>C (p.Ala334=) single nucleotide variant Fanconi anemia [RCV001419234] Chr11:22624809 [GRCh38]
Chr11:22646355 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.9C>T (p.Ser3=) single nucleotide variant Fanconi anemia [RCV001432687] Chr11:22625802 [GRCh38]
Chr11:22647348 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.675C>T (p.Gly225=) single nucleotide variant Fanconi anemia [RCV001431322]|not provided [RCV004720910] Chr11:22625136 [GRCh38]
Chr11:22646682 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.249C>T (p.Phe83=) single nucleotide variant Fanconi anemia [RCV001447975] Chr11:22625562 [GRCh38]
Chr11:22647108 [GRCh37]
Chr11:11p14.3		 likely benign
NC_000011.10:g.22626004A>G single nucleotide variant not provided [RCV001643271] Chr11:22626004 [GRCh38]
Chr11:22647550 [GRCh37]
Chr11:11p14.3		 benign
NM_022725.4(FANCF):c.126C>T (p.Arg42=) single nucleotide variant Fanconi anemia [RCV001481606] Chr11:22625685 [GRCh38]
Chr11:22647231 [GRCh37]
Chr11:11p14.3		 likely benign
NC_000011.10:g.22626136_22626140dup duplication not provided [RCV001669838] Chr11:22626135..22626136 [GRCh38]
Chr11:22647681..22647682 [GRCh37]
Chr11:11p14.3		 benign
NC_000011.10:g.22625904C>G single nucleotide variant not provided [RCV001587514] Chr11:22625904 [GRCh38]
Chr11:22647450 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.849A>G (p.Gln283=) single nucleotide variant Fanconi anemia [RCV001478110] Chr11:22624962 [GRCh38]
Chr11:22646508 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.762C>A (p.Ala254=) single nucleotide variant Fanconi anemia [RCV001486199] Chr11:22625049 [GRCh38]
Chr11:22646595 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer) deletion Fanconi anemia complementation group F [RCV001520573] Chr11:22625360..22625373 [GRCh38]
Chr11:22646906..22646919 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.534del (p.Lys179fs) deletion Fanconi anemia complementation group F [RCV001520576] Chr11:22625277 [GRCh38]
Chr11:22646823 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs) insertion Fanconi anemia [RCV001389253]|Fanconi anemia complementation group F [RCV003469754] Chr11:22625786..22625787 [GRCh38]
Chr11:22647332..22647333 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp) single nucleotide variant Fanconi anemia [RCV001885116]|not provided [RCV003237629] Chr11:22625345 [GRCh38]
Chr11:22646891 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1A>C (p.Met1Leu) single nucleotide variant Fanconi anemia [RCV002255797] Chr11:22625810 [GRCh38]
Chr11:22647356 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.1020A>G (p.Glu340=) single nucleotide variant Fanconi anemia [RCV002256983] Chr11:22624791 [GRCh38]
Chr11:22646337 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser) single nucleotide variant Fanconi anemia [RCV002256984]|Fanconi anemia complementation group F [RCV002488638] Chr11:22625123 [GRCh38]
Chr11:22646669 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1A>T (p.Met1Leu) single nucleotide variant Fanconi anemia [RCV002258415] Chr11:22625810 [GRCh38]
Chr11:22647356 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.134A>G (p.His45Arg) single nucleotide variant Fanconi anemia [RCV002034478]|not provided [RCV001772754] Chr11:22625677 [GRCh38]
Chr11:22647223 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.801C>A (p.His267Gln) single nucleotide variant Fanconi anemia [RCV001861121]|Fanconi anemia complementation group F [RCV004571088]|not provided [RCV003237628] Chr11:22625010 [GRCh38]
Chr11:22646556 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.817_820del (p.Val273fs) deletion Fanconi anemia complementation group F [RCV001809242]|not specified [RCV004782793] Chr11:22624991..22624994 [GRCh38]
Chr11:22646537..22646540 [GRCh37]
Chr11:11p14.3		 likely pathogenic|uncertain significance
NM_022725.4(FANCF):c.632_634dup (p.Gln211dup) duplication not specified [RCV001817941] Chr11:22625176..22625177 [GRCh38]
Chr11:22646722..22646723 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.774G>A (p.Gly258=) single nucleotide variant not specified [RCV001820472] Chr11:22625037 [GRCh38]
Chr11:22646583 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.474G>A (p.Gln158=) single nucleotide variant not specified [RCV001820585] Chr11:22625337 [GRCh38]
Chr11:22646883 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.555C>T (p.Pro185=) single nucleotide variant Fanconi anemia [RCV002077306]|not specified [RCV001820657] Chr11:22625256 [GRCh38]
Chr11:22646802 [GRCh37]
Chr11:11p14.3		 likely benign|uncertain significance
NM_022725.4(FANCF):c.807G>A (p.Ala269=) single nucleotide variant Fanconi anemia [RCV002542497]|not specified [RCV001822221] Chr11:22625004 [GRCh38]
Chr11:22646550 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.301C>T (p.Arg101Trp) single nucleotide variant not specified [RCV001822655] Chr11:22625510 [GRCh38]
Chr11:22647056 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.63C>G (p.Thr21=) single nucleotide variant not specified [RCV001822677] Chr11:22625748 [GRCh38]
Chr11:22647294 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.785T>C (p.Leu262Ser) single nucleotide variant Fanconi anemia [RCV002542615]|not specified [RCV001820375] Chr11:22625026 [GRCh38]
Chr11:22646572 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.345C>A (p.Leu115=) single nucleotide variant Fanconi anemia [RCV002545173]|not specified [RCV001822520] Chr11:22625466 [GRCh38]
Chr11:22647012 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter) single nucleotide variant Fanconi anemia [RCV003523185]|Fanconi anemia complementation group F [RCV003461486] Chr11:22625153 [GRCh38]
Chr11:22646699 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser) single nucleotide variant Fanconi anemia [RCV002542776]|Fanconi anemia complementation group F [RCV001834547] Chr11:22625462 [GRCh38]
Chr11:22647008 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.696G>T (p.Glu232Asp) single nucleotide variant Fanconi anemia [RCV001929422] Chr11:22625115 [GRCh38]
Chr11:22646661 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22469479-22724326) copy number gain not specified [RCV002052918] Chr11:22469479..22724326 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.705A>C (p.Gln235His) single nucleotide variant Fanconi anemia [RCV001890354]|Fanconi anemia complementation group F [RCV002482645] Chr11:22625106 [GRCh38]
Chr11:22646652 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.136C>G (p.Arg46Gly) single nucleotide variant Fanconi anemia [RCV001965342] Chr11:22625675 [GRCh38]
Chr11:22647221 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1078A>G (p.Arg360Gly) single nucleotide variant Fanconi anemia [RCV002008042] Chr11:22624733 [GRCh38]
Chr11:22646279 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.223G>T (p.Gly75Cys) single nucleotide variant Fanconi anemia [RCV001970989] Chr11:22625588 [GRCh38]
Chr11:22647134 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.692G>A (p.Gly231Glu) single nucleotide variant Fanconi anemia [RCV001929107] Chr11:22625119 [GRCh38]
Chr11:22646665 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp) single nucleotide variant Fanconi anemia [RCV002042694]|Fanconi anemia complementation group F [RCV002507778] Chr11:22625707 [GRCh38]
Chr11:22647253 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1060C>T (p.Leu354Phe) single nucleotide variant Fanconi anemia [RCV002020372] Chr11:22624751 [GRCh38]
Chr11:22646297 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1114A>G (p.Ser372Gly) single nucleotide variant Fanconi anemia [RCV001986033] Chr11:22624697 [GRCh38]
Chr11:22646243 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter) single nucleotide variant Fanconi anemia [RCV001910532] Chr11:22624770 [GRCh38]
Chr11:22646316 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.904G>A (p.Val302Met) single nucleotide variant not specified [RCV001844721] Chr11:22624907 [GRCh38]
Chr11:22646453 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.166A>G (p.Thr56Ala) single nucleotide variant Fanconi anemia [RCV001967006] Chr11:22625645 [GRCh38]
Chr11:22647191 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.24G>C (p.Leu8=) single nucleotide variant Fanconi anemia [RCV002007477]|not provided [RCV003395317] Chr11:22625787 [GRCh38]
Chr11:22647333 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly) single nucleotide variant Fanconi anemia [RCV002021950] Chr11:22624804 [GRCh38]
Chr11:22646350 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn) single nucleotide variant Fanconi anemia [RCV002007845] Chr11:22624799 [GRCh38]
Chr11:22646345 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.3G>A (p.Met1Ile) single nucleotide variant Fanconi anemia [RCV001970176] Chr11:22625808 [GRCh38]
Chr11:22647354 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.268G>A (p.Asp90Asn) single nucleotide variant Fanconi anemia [RCV002023382] Chr11:22625543 [GRCh38]
Chr11:22647089 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser) single nucleotide variant Fanconi anemia [RCV001987402]|Fanconi anemia complementation group F [RCV002484673] Chr11:22625441 [GRCh38]
Chr11:22646987 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.160A>G (p.Ile54Val) single nucleotide variant Fanconi anemia [RCV002008036] Chr11:22625651 [GRCh38]
Chr11:22647197 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.614T>C (p.Ile205Thr) single nucleotide variant Fanconi anemia [RCV001910781] Chr11:22625197 [GRCh38]
Chr11:22646743 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.921G>T (p.Leu307Phe) single nucleotide variant Fanconi anemia [RCV001909462] Chr11:22624890 [GRCh38]
Chr11:22646436 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.98G>A (p.Arg33Gln) single nucleotide variant Fanconi anemia [RCV001892288] Chr11:22625713 [GRCh38]
Chr11:22647259 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.887G>T (p.Gly296Val) single nucleotide variant Fanconi anemia [RCV001926152] Chr11:22624924 [GRCh38]
Chr11:22646470 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg) single nucleotide variant Fanconi anemia [RCV002038139] Chr11:22624729 [GRCh38]
Chr11:22646275 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.869A>C (p.Gln290Pro) single nucleotide variant Fanconi anemia [RCV001906892] Chr11:22624942 [GRCh38]
Chr11:22646488 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser) single nucleotide variant Fanconi anemia [RCV001888183]|Fanconi anemia complementation group F [RCV002478212] Chr11:22624859 [GRCh38]
Chr11:22646405 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys) single nucleotide variant Fanconi anemia [RCV002013436]|Fanconi anemia complementation group F [RCV002507789] Chr11:22625692 [GRCh38]
Chr11:22647238 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.817G>C (p.Val273Leu) single nucleotide variant Fanconi anemia [RCV001937395] Chr11:22624994 [GRCh38]
Chr11:22646540 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.269A>G (p.Asp90Gly) single nucleotide variant Fanconi anemia [RCV001916296] Chr11:22625542 [GRCh38]
Chr11:22647088 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.302G>C (p.Arg101Pro) single nucleotide variant Fanconi anemia [RCV001958342]|Fanconi anemia complementation group F [RCV002484750]|Inborn genetic diseases [RCV003250340] Chr11:22625509 [GRCh38]
Chr11:22647055 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.635C>A (p.Pro212Gln) single nucleotide variant Fanconi anemia [RCV001977496] Chr11:22625176 [GRCh38]
Chr11:22646722 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.419G>A (p.Arg140Gln) single nucleotide variant Fanconi anemia [RCV001880709]|Fanconi anemia complementation group F [RCV002482587] Chr11:22625392 [GRCh38]
Chr11:22646938 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.189C>G (p.His63Gln) single nucleotide variant Fanconi anemia [RCV001992984] Chr11:22625622 [GRCh38]
Chr11:22647168 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.484C>G (p.Leu162Val) single nucleotide variant Fanconi anemia [RCV001903456] Chr11:22625327 [GRCh38]
Chr11:22646873 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.821A>G (p.Tyr274Cys) single nucleotide variant Fanconi anemia [RCV001879522] Chr11:22624990 [GRCh38]
Chr11:22646536 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.849A>C (p.Gln283His) single nucleotide variant Fanconi anemia [RCV001881997] Chr11:22624962 [GRCh38]
Chr11:22646508 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.232C>A (p.Pro78Thr) single nucleotide variant Fanconi anemia [RCV001973988] Chr11:22625579 [GRCh38]
Chr11:22647125 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.325T>C (p.Tyr109His) single nucleotide variant Fanconi anemia [RCV001975450] Chr11:22625486 [GRCh38]
Chr11:22647032 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.790A>T (p.Thr264Ser) single nucleotide variant Fanconi anemia [RCV001881470] Chr11:22625021 [GRCh38]
Chr11:22646567 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.866T>C (p.Leu289Pro) single nucleotide variant Fanconi anemia [RCV001930346] Chr11:22624945 [GRCh38]
Chr11:22646491 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.182G>T (p.Arg61Leu) single nucleotide variant Fanconi anemia [RCV001931757] Chr11:22625629 [GRCh38]
Chr11:22647175 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.326dup (p.Tyr109Ter) duplication Fanconi anemia [RCV001982108] Chr11:22625484..22625485 [GRCh38]
Chr11:22647030..22647031 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.78G>C (p.Trp26Cys) single nucleotide variant Fanconi anemia [RCV001897431] Chr11:22625733 [GRCh38]
Chr11:22647279 [GRCh37]
Chr11:11p14.3		 uncertain significance
NC_000011.9:g.(?_22646232)_(22647356_?)del deletion Fanconi anemia [RCV004580120] Chr11:22646232..22647356 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.451T>A (p.Tyr151Asn) single nucleotide variant Fanconi anemia [RCV001936785]|not provided [RCV002473331] Chr11:22625360 [GRCh38]
Chr11:22646906 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.899A>G (p.Gln300Arg) single nucleotide variant Fanconi anemia [RCV001918954] Chr11:22624912 [GRCh38]
Chr11:22646458 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.940C>T (p.Leu314Phe) single nucleotide variant Fanconi anemia [RCV002046876] Chr11:22624871 [GRCh38]
Chr11:22646417 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.191A>G (p.Asn64Ser) single nucleotide variant Fanconi anemia [RCV001938301] Chr11:22625620 [GRCh38]
Chr11:22647166 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe) single nucleotide variant Fanconi anemia [RCV001924051]|Inborn genetic diseases [RCV002560472] Chr11:22624763 [GRCh38]
Chr11:22646309 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.404G>T (p.Arg135Leu) single nucleotide variant Fanconi anemia [RCV001982194] Chr11:22625407 [GRCh38]
Chr11:22646953 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.583C>T (p.Arg195Cys) single nucleotide variant Fanconi anemia [RCV001960492] Chr11:22625228 [GRCh38]
Chr11:22646774 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.857A>G (p.His286Arg) single nucleotide variant Fanconi anemia [RCV002010587] Chr11:22624954 [GRCh38]
Chr11:22646500 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.133C>T (p.His45Tyr) single nucleotide variant Fanconi anemia [RCV001922505] Chr11:22625678 [GRCh38]
Chr11:22647224 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val) single nucleotide variant Fanconi anemia [RCV001879381]|Inborn genetic diseases [RCV004040639] Chr11:22624810 [GRCh38]
Chr11:22646356 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.845G>A (p.Gly282Asp) single nucleotide variant Fanconi anemia [RCV001958318] Chr11:22624966 [GRCh38]
Chr11:22646512 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.537G>A (p.Lys179=) single nucleotide variant Fanconi anemia [RCV002126718] Chr11:22625274 [GRCh38]
Chr11:22646820 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.201G>A (p.Arg67=) single nucleotide variant Fanconi anemia [RCV002110374] Chr11:22625610 [GRCh38]
Chr11:22647156 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.987G>C (p.Leu329=) single nucleotide variant Fanconi anemia [RCV002188507] Chr11:22624824 [GRCh38]
Chr11:22646370 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.645T>A (p.Ser215=) single nucleotide variant Fanconi anemia [RCV002071253] Chr11:22625166 [GRCh38]
Chr11:22646712 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.96C>G (p.Arg32=) single nucleotide variant Fanconi anemia [RCV002187597] Chr11:22625715 [GRCh38]
Chr11:22647261 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.1044A>G (p.Thr348=) single nucleotide variant Fanconi anemia [RCV002167172] Chr11:22624767 [GRCh38]
Chr11:22646313 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.654C>G (p.Pro218=) single nucleotide variant Fanconi anemia [RCV002192287] Chr11:22625157 [GRCh38]
Chr11:22646703 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.360C>T (p.Gly120=) single nucleotide variant Fanconi anemia [RCV002214766]|not provided [RCV003389894] Chr11:22625451 [GRCh38]
Chr11:22646997 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.84C>A (p.Pro28=) single nucleotide variant Fanconi anemia [RCV002193309] Chr11:22625727 [GRCh38]
Chr11:22647273 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.714C>T (p.Val238=) single nucleotide variant Fanconi anemia [RCV002211697] Chr11:22625097 [GRCh38]
Chr11:22646643 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.36C>G (p.Ser12=) single nucleotide variant Fanconi anemia [RCV002116950] Chr11:22625775 [GRCh38]
Chr11:22647321 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.184C>T (p.Leu62=) single nucleotide variant Fanconi anemia [RCV002078728] Chr11:22625627 [GRCh38]
Chr11:22647173 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.861T>C (p.Tyr287=) single nucleotide variant Fanconi anemia [RCV002077690] Chr11:22624950 [GRCh38]
Chr11:22646496 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.615A>T (p.Ile205=) single nucleotide variant Fanconi anemia [RCV002205622] Chr11:22625196 [GRCh38]
Chr11:22646742 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.462C>T (p.Asn154=) single nucleotide variant Fanconi anemia [RCV002093283] Chr11:22625349 [GRCh38]
Chr11:22646895 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.51C>T (p.Val17=) single nucleotide variant Fanconi anemia [RCV002119774] Chr11:22625760 [GRCh38]
Chr11:22647306 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.696G>C (p.Glu232Asp) single nucleotide variant Fanconi anemia [RCV002258416] Chr11:22625115 [GRCh38]
Chr11:22646661 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.812C>T (p.Ser271Phe) single nucleotide variant Fanconi anemia [RCV002258417] Chr11:22624999 [GRCh38]
Chr11:22646545 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1054T>C (p.Leu352=) single nucleotide variant Fanconi anemia [RCV002177052] Chr11:22624757 [GRCh38]
Chr11:22646303 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.984C>T (p.Ala328=) single nucleotide variant Fanconi anemia [RCV002163278] Chr11:22624827 [GRCh38]
Chr11:22646373 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.378G>A (p.Glu126=) single nucleotide variant Fanconi anemia [RCV002098362] Chr11:22625433 [GRCh38]
Chr11:22646979 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.70A>T (p.Ser24Cys) single nucleotide variant Fanconi anemia [RCV002256985] Chr11:22625741 [GRCh38]
Chr11:22647287 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.13C>T (p.Leu5=) single nucleotide variant Fanconi anemia [RCV002100844] Chr11:22625798 [GRCh38]
Chr11:22647344 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.291G>C (p.Leu97=) single nucleotide variant Fanconi anemia [RCV002160330] Chr11:22625520 [GRCh38]
Chr11:22647066 [GRCh37]
Chr11:11p14.3		 likely benign
NC_000011.9:g.(?_22644078)_(22647388_?)del deletion Fanconi anemia [RCV002222973] Chr11:22644078..22647388 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic
NM_022725.4(FANCF):c.927T>C (p.Asn309=) single nucleotide variant Fanconi anemia [RCV002104168] Chr11:22624884 [GRCh38]
Chr11:22646430 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.276G>C (p.Leu92=) single nucleotide variant Fanconi anemia [RCV002137955] Chr11:22625535 [GRCh38]
Chr11:22647081 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.22C>T (p.Leu8=) single nucleotide variant Fanconi anemia [RCV002178032] Chr11:22625789 [GRCh38]
Chr11:22647335 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.471C>A (p.Leu157=) single nucleotide variant Fanconi anemia [RCV002102732] Chr11:22625340 [GRCh38]
Chr11:22646886 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.636G>T (p.Pro212=) single nucleotide variant Fanconi anemia [RCV002121069] Chr11:22625175 [GRCh38]
Chr11:22646721 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.306C>T (p.Ala102=) single nucleotide variant Fanconi anemia [RCV003109392] Chr11:22625505 [GRCh38]
Chr11:22647051 [GRCh37]
Chr11:11p14.3		 likely benign
NC_000011.9:g.(?_22646232)_(22647356_?)dup duplication Fanconi anemia [RCV003111505] Chr11:22646232..22647356 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.175G>C (p.Glu59Gln) single nucleotide variant Fanconi anemia [RCV003119983] Chr11:22625636 [GRCh38]
Chr11:22647182 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.50T>C (p.Val17Ala) single nucleotide variant Fanconi anemia [RCV003121671] Chr11:22625761 [GRCh38]
Chr11:22647307 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.115C>T (p.Arg39Cys) single nucleotide variant Fanconi anemia [RCV003636008]|Inborn genetic diseases [RCV003276079] Chr11:22625696 [GRCh38]
Chr11:22647242 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.283_284del (p.Leu95fs) microsatellite Fanconi anemia complementation group F [RCV002254006] Chr11:22625527..22625528 [GRCh38]
Chr11:22647073..22647074 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.281C>T (p.Ser94Phe) single nucleotide variant Fanconi anemia [RCV002255798] Chr11:22625530 [GRCh38]
Chr11:22647076 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe) single nucleotide variant Fanconi anemia [RCV002255248] Chr11:22624755 [GRCh38]
Chr11:22646301 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
GRCh37/hg19 11p14.3(chr11:22582555-23040011)x3 copy number gain not provided [RCV002473567] Chr11:22582555..23040011 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.552_554inv (p.Pro185Asp) inversion Fanconi anemia [RCV002993633] Chr11:22625257..22625259 [GRCh38]
Chr11:22646803..22646805 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.388C>G (p.Gln130Glu) single nucleotide variant Fanconi anemia [RCV003033543] Chr11:22625423 [GRCh38]
Chr11:22646969 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.538del (p.Ala180fs) deletion Fanconi anemia [RCV002994700]|Fanconi anemia complementation group F [RCV004686755] Chr11:22625273 [GRCh38]
Chr11:22646819 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.140_141delinsTT (p.Arg47Leu) indel Fanconi anemia [RCV003077108] Chr11:22625670..22625671 [GRCh38]
Chr11:22647216..22647217 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu) single nucleotide variant Fanconi anemia [RCV002947902] Chr11:22624786 [GRCh38]
Chr11:22646332 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.63del (p.Tyr22fs) deletion Fanconi anemia [RCV002880987] Chr11:22625748 [GRCh38]
Chr11:22647294 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.750C>A (p.Ala250=) single nucleotide variant FANCF-related disorder [RCV004731279]|Fanconi anemia [RCV002617176] Chr11:22625061 [GRCh38]
Chr11:22646607 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.355C>G (p.Pro119Ala) single nucleotide variant Inborn genetic diseases [RCV002969801] Chr11:22625456 [GRCh38]
Chr11:22647002 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.88dup (p.Thr30fs) duplication Fanconi anemia [RCV003016325] Chr11:22625722..22625723 [GRCh38]
Chr11:22647268..22647269 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.420G>A (p.Arg140=) single nucleotide variant Fanconi anemia [RCV003075378] Chr11:22625391 [GRCh38]
Chr11:22646937 [GRCh37]
Chr11:11p14.3		 likely benign
GRCh37/hg19 11p14.3(chr11:22501365-22701807)x3 copy number gain not provided [RCV002475644] Chr11:22501365..22701807 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.886G>T (p.Gly296Ter) single nucleotide variant Fanconi anemia [RCV002751410] Chr11:22624925 [GRCh38]
Chr11:22646471 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.445A>G (p.Asn149Asp) single nucleotide variant Fanconi anemia [RCV003079925] Chr11:22625366 [GRCh38]
Chr11:22646912 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile) single nucleotide variant Fanconi anemia [RCV002999825] Chr11:22624763 [GRCh38]
Chr11:22646309 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.838G>T (p.Asp280Tyr) single nucleotide variant Fanconi anemia [RCV003036677] Chr11:22624973 [GRCh38]
Chr11:22646519 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.838G>A (p.Asp280Asn) single nucleotide variant Fanconi anemia [RCV002979714] Chr11:22624973 [GRCh38]
Chr11:22646519 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.351C>T (p.Pro117=) single nucleotide variant Fanconi anemia [RCV002620143] Chr11:22625460 [GRCh38]
Chr11:22647006 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.829C>G (p.Leu277Val) single nucleotide variant Fanconi anemia [RCV002636536] Chr11:22624982 [GRCh38]
Chr11:22646528 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.281C>G (p.Ser94Cys) single nucleotide variant Fanconi anemia [RCV003077848] Chr11:22625530 [GRCh38]
Chr11:22647076 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.291G>A (p.Leu97=) single nucleotide variant Fanconi anemia [RCV002620523] Chr11:22625520 [GRCh38]
Chr11:22647066 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.799C>T (p.His267Tyr) single nucleotide variant Fanconi anemia [RCV002620790] Chr11:22625012 [GRCh38]
Chr11:22646558 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.683A>C (p.Lys228Thr) single nucleotide variant Fanconi anemia [RCV002591949] Chr11:22625128 [GRCh38]
Chr11:22646674 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.851G>C (p.Arg284Pro) single nucleotide variant Fanconi anemia [RCV002761587] Chr11:22624960 [GRCh38]
Chr11:22646506 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.95G>A (p.Arg32His) single nucleotide variant Fanconi anemia [RCV003778518]|Inborn genetic diseases [RCV003000434] Chr11:22625716 [GRCh38]
Chr11:22647262 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.994T>C (p.Cys332Arg) single nucleotide variant Fanconi anemia [RCV003052795] Chr11:22624817 [GRCh38]
Chr11:22646363 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.130A>T (p.Ile44Phe) single nucleotide variant Fanconi anemia [RCV002637382] Chr11:22625681 [GRCh38]
Chr11:22647227 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.765C>T (p.Leu255=) single nucleotide variant Fanconi anemia [RCV003053323] Chr11:22625046 [GRCh38]
Chr11:22646592 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.147T>G (p.Gly49=) single nucleotide variant Fanconi anemia [RCV002909759] Chr11:22625664 [GRCh38]
Chr11:22647210 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.993C>A (p.Thr331=) single nucleotide variant Fanconi anemia [RCV002569847] Chr11:22624818 [GRCh38]
Chr11:22646364 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.156C>T (p.Gly52=) single nucleotide variant Fanconi anemia [RCV002572350] Chr11:22625655 [GRCh38]
Chr11:22647201 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.39G>C (p.Glu13Asp) single nucleotide variant Inborn genetic diseases [RCV002827127] Chr11:22625772 [GRCh38]
Chr11:22647318 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.85G>C (p.Ala29Pro) single nucleotide variant Fanconi anemia [RCV002830026] Chr11:22625726 [GRCh38]
Chr11:22647272 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.429G>A (p.Val143=) single nucleotide variant Fanconi anemia [RCV002701362] Chr11:22625382 [GRCh38]
Chr11:22646928 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.814C>T (p.Pro272Ser) single nucleotide variant Fanconi anemia [RCV002745418]|Inborn genetic diseases [RCV002745419] Chr11:22624997 [GRCh38]
Chr11:22646543 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.253G>A (p.Ala85Thr) single nucleotide variant Fanconi anemia [RCV002890246] Chr11:22625558 [GRCh38]
Chr11:22647104 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.449G>A (p.Gly150Asp) single nucleotide variant Fanconi anemia [RCV002596830] Chr11:22625362 [GRCh38]
Chr11:22646908 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.309C>T (p.Leu103=) single nucleotide variant Fanconi anemia [RCV002644330] Chr11:22625502 [GRCh38]
Chr11:22647048 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.434T>G (p.Met145Arg) single nucleotide variant Fanconi anemia [RCV002624852] Chr11:22625377 [GRCh38]
Chr11:22646923 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.352G>A (p.Gly118Ser) single nucleotide variant Fanconi anemia [RCV002642862] Chr11:22625459 [GRCh38]
Chr11:22647005 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.203A>G (p.Gln68Arg) single nucleotide variant Fanconi anemia [RCV002575880] Chr11:22625608 [GRCh38]
Chr11:22647154 [GRCh37]
Chr11:11p14.3		 likely benign|uncertain significance
NM_022725.4(FANCF):c.214T>G (p.Phe72Val) single nucleotide variant Fanconi anemia [RCV003064794] Chr11:22625597 [GRCh38]
Chr11:22647143 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.623C>A (p.Ala208Glu) single nucleotide variant Fanconi anemia [RCV003009931] Chr11:22625188 [GRCh38]
Chr11:22646734 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.389A>G (p.Gln130Arg) single nucleotide variant Inborn genetic diseases [RCV002879018] Chr11:22625422 [GRCh38]
Chr11:22646968 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.501G>A (p.Ala167=) single nucleotide variant Fanconi anemia [RCV003028597] Chr11:22625310 [GRCh38]
Chr11:22646856 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter) single nucleotide variant Fanconi anemia [RCV003048995] Chr11:22625276 [GRCh38]
Chr11:22646822 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.771C>T (p.Ala257=) single nucleotide variant Fanconi anemia [RCV002628587] Chr11:22625040 [GRCh38]
Chr11:22646586 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.364C>T (p.Arg122Trp) single nucleotide variant Fanconi anemia [RCV002962501] Chr11:22625447 [GRCh38]
Chr11:22646993 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.137G>A (p.Arg46Gln) single nucleotide variant Fanconi anemia [RCV003063189] Chr11:22625674 [GRCh38]
Chr11:22647220 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.506T>A (p.Leu169Gln) single nucleotide variant Fanconi anemia [RCV003091031] Chr11:22625305 [GRCh38]
Chr11:22646851 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.462C>A (p.Asn154Lys) single nucleotide variant Fanconi anemia [RCV003048125] Chr11:22625349 [GRCh38]
Chr11:22646895 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.10C>T (p.Leu4Phe) single nucleotide variant Fanconi anemia [RCV003061154]|Inborn genetic diseases [RCV003061153] Chr11:22625801 [GRCh38]
Chr11:22647347 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.236del (p.Gly79fs) deletion Fanconi anemia [RCV002966515] Chr11:22625575 [GRCh38]
Chr11:22647121 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.952C>G (p.Pro318Ala) single nucleotide variant Fanconi anemia [RCV002810658] Chr11:22624859 [GRCh38]
Chr11:22646405 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.260G>T (p.Gly87Val) single nucleotide variant Fanconi anemia [RCV002922016] Chr11:22625551 [GRCh38]
Chr11:22647097 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.482C>G (p.Ser161Cys) single nucleotide variant Fanconi anemia [RCV002597543] Chr11:22625329 [GRCh38]
Chr11:22646875 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.924C>T (p.His308=) single nucleotide variant Fanconi anemia [RCV002628085] Chr11:22624887 [GRCh38]
Chr11:22646433 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.186G>T (p.Leu62=) single nucleotide variant Fanconi anemia [RCV002922382] Chr11:22625625 [GRCh38]
Chr11:22647171 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.494C>T (p.Thr165Ile) single nucleotide variant Fanconi anemia [RCV002962031] Chr11:22625317 [GRCh38]
Chr11:22646863 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.192C>T (p.Asn64=) single nucleotide variant Fanconi anemia [RCV003062651] Chr11:22625619 [GRCh38]
Chr11:22647165 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.606G>T (p.Leu202=) single nucleotide variant Fanconi anemia [RCV002899376] Chr11:22625205 [GRCh38]
Chr11:22646751 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.760G>A (p.Ala254Thr) single nucleotide variant Fanconi anemia [RCV002602539] Chr11:22625051 [GRCh38]
Chr11:22646597 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.628T>C (p.Leu210=) single nucleotide variant Fanconi anemia [RCV002806904] Chr11:22625183 [GRCh38]
Chr11:22646729 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.231T>C (p.Val77=) single nucleotide variant Fanconi anemia [RCV002966517] Chr11:22625580 [GRCh38]
Chr11:22647126 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.1123T>C (p.Ter375Gln) single nucleotide variant Fanconi anemia [RCV002651208] Chr11:22624688 [GRCh38]
Chr11:22646234 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.473A>G (p.Gln158Arg) single nucleotide variant Fanconi anemia [RCV003067864] Chr11:22625338 [GRCh38]
Chr11:22646884 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1038C>T (p.Ile346=) single nucleotide variant Fanconi anemia [RCV002605594] Chr11:22624773 [GRCh38]
Chr11:22646319 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.164G>A (p.Arg55His) single nucleotide variant Fanconi anemia [RCV002606487] Chr11:22625647 [GRCh38]
Chr11:22647193 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.841T>C (p.Trp281Arg) single nucleotide variant Fanconi anemia [RCV003071503] Chr11:22624970 [GRCh38]
Chr11:22646516 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.194A>C (p.Gln65Pro) single nucleotide variant Fanconi anemia [RCV002586989] Chr11:22625617 [GRCh38]
Chr11:22647163 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.244A>G (p.Asn82Asp) single nucleotide variant Fanconi anemia [RCV002606234] Chr11:22625567 [GRCh38]
Chr11:22647113 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.98G>C (p.Arg33Pro) single nucleotide variant Fanconi anemia [RCV002604022] Chr11:22625713 [GRCh38]
Chr11:22647259 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.654_655del (p.Gln219fs) deletion not specified [RCV003155625] Chr11:22625156..22625157 [GRCh38]
Chr11:22646702..22646703 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.394A>G (p.Ser132Gly) single nucleotide variant Ovarian cancer [RCV003154739] Chr11:22625417 [GRCh38]
Chr11:22646963 [GRCh37]
Chr11:11p14.3		 benign
NM_022725.4(FANCF):c.497A>C (p.Gln166Pro) single nucleotide variant Fanconi anemia complementation group F [RCV003333313] Chr11:22625314 [GRCh38]
Chr11:22646860 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer) microsatellite Fanconi anemia [RCV003636027]|Fanconi anemia complementation group F [RCV003461485] Chr11:22625543..22625544 [GRCh38]
Chr11:22647089..22647090 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic
NM_022725.4(FANCF):c.80A>C (p.Asp27Ala) single nucleotide variant Fanconi anemia [RCV003524789] Chr11:22625731 [GRCh38]
Chr11:22647277 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.365G>C (p.Arg122Pro) single nucleotide variant Fanconi anemia [RCV003874704] Chr11:22625446 [GRCh38]
Chr11:22646992 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter) single nucleotide variant Fanconi anemia complementation group F [RCV003461482] Chr11:22624913 [GRCh38]
Chr11:22646459 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.530_537del (p.Val177fs) deletion Fanconi anemia complementation group F [RCV003461487] Chr11:22625274..22625281 [GRCh38]
Chr11:22646820..22646827 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.167del (p.Thr56fs) deletion Fanconi anemia complementation group F [RCV003461488] Chr11:22625644 [GRCh38]
Chr11:22647190 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.133_136del (p.His45fs) microsatellite Fanconi anemia [RCV003636026]|Fanconi anemia complementation group F [RCV003461483] Chr11:22625675..22625678 [GRCh38]
Chr11:22647221..22647224 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic
NM_022725.4(FANCF):c.434del (p.Met145fs) deletion Fanconi anemia complementation group F [RCV003461489] Chr11:22625377 [GRCh38]
Chr11:22646923 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.388dup (p.Gln130fs) duplication Fanconi anemia [RCV003636016]|Fanconi anemia complementation group F [RCV003459861]|not provided [RCV003394789] Chr11:22625422..22625423 [GRCh38]
Chr11:22646968..22646969 [GRCh37]
Chr11:11p14.3		 pathogenic|likely pathogenic
NM_022725.4(FANCF):c.1011A>G (p.Gly337=) single nucleotide variant not provided [RCV003390028] Chr11:22624800 [GRCh38]
Chr11:22646346 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.205G>T (p.Glu69Ter) single nucleotide variant FANCF-related disorder [RCV003412456] Chr11:22625606 [GRCh38]
Chr11:22647152 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.292C>T (p.Leu98=) single nucleotide variant Fanconi anemia [RCV003524688] Chr11:22625519 [GRCh38]
Chr11:22647065 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.9C>A (p.Ser3=) single nucleotide variant Fanconi anemia [RCV003876721] Chr11:22625802 [GRCh38]
Chr11:22647348 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.-7G>T single nucleotide variant not specified [RCV003489752] Chr11:22625817 [GRCh38]
Chr11:22647363 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.822T>C (p.Tyr274=) single nucleotide variant Fanconi anemia [RCV003882282] Chr11:22624989 [GRCh38]
Chr11:22646535 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.623C>T (p.Ala208Val) single nucleotide variant Fanconi anemia [RCV003811191] Chr11:22625188 [GRCh38]
Chr11:22646734 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.385C>A (p.Leu129Ile) single nucleotide variant Fanconi anemia [RCV003523492] Chr11:22625426 [GRCh38]
Chr11:22646972 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.654C>T (p.Pro218=) single nucleotide variant Fanconi anemia [RCV003522471] Chr11:22625157 [GRCh38]
Chr11:22646703 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.90C>A (p.Thr30=) single nucleotide variant Fanconi anemia [RCV003523794] Chr11:22625721 [GRCh38]
Chr11:22647267 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.407_415dup (p.Arg138_Arg139insLeuAlaArg) duplication Fanconi anemia [RCV003524059] Chr11:22625395..22625396 [GRCh38]
Chr11:22646941..22646942 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.139C>T (p.Arg47Cys) single nucleotide variant Fanconi anemia [RCV003523323] Chr11:22625672 [GRCh38]
Chr11:22647218 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.391G>A (p.Glu131Lys) single nucleotide variant Fanconi anemia [RCV003637126] Chr11:22625420 [GRCh38]
Chr11:22646966 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.533G>A (p.Gly178Glu) single nucleotide variant Fanconi anemia [RCV003637274] Chr11:22625278 [GRCh38]
Chr11:22646824 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.447T>C (p.Asn149=) single nucleotide variant Fanconi anemia [RCV003637275] Chr11:22625364 [GRCh38]
Chr11:22646910 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.667G>T (p.Glu223Ter) single nucleotide variant Fanconi anemia [RCV003636521] Chr11:22625144 [GRCh38]
Chr11:22646690 [GRCh37]
Chr11:11p14.3		 pathogenic
NM_022725.4(FANCF):c.771C>G (p.Ala257=) single nucleotide variant Fanconi anemia [RCV003523554] Chr11:22625040 [GRCh38]
Chr11:22646586 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.763C>G (p.Leu255Val) single nucleotide variant Fanconi anemia [RCV003636917] Chr11:22625048 [GRCh38]
Chr11:22646594 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.49G>A (p.Val17Ile) single nucleotide variant Fanconi anemia [RCV003636719] Chr11:22625762 [GRCh38]
Chr11:22647308 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.553C>T (p.Pro185Ser) single nucleotide variant Fanconi anemia [RCV003524404] Chr11:22625258 [GRCh38]
Chr11:22646804 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.183G>A (p.Arg61=) single nucleotide variant Fanconi anemia [RCV003522126] Chr11:22625628 [GRCh38]
Chr11:22647174 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.724C>T (p.Leu242=) single nucleotide variant Fanconi anemia [RCV003522389] Chr11:22625087 [GRCh38]
Chr11:22646633 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.388C>A (p.Gln130Lys) single nucleotide variant Fanconi anemia [RCV003636166] Chr11:22625423 [GRCh38]
Chr11:22646969 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.551G>C (p.Arg184Pro) single nucleotide variant Fanconi anemia [RCV003636317] Chr11:22625260 [GRCh38]
Chr11:22646806 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.864C>T (p.Asp288=) single nucleotide variant Fanconi anemia [RCV003636533] Chr11:22624947 [GRCh38]
Chr11:22646493 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.857A>C (p.His286Pro) single nucleotide variant Fanconi anemia [RCV003636459] Chr11:22624954 [GRCh38]
Chr11:22646500 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.769G>A (p.Ala257Thr) single nucleotide variant Fanconi anemia [RCV003524208] Chr11:22625042 [GRCh38]
Chr11:22646588 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.668A>C (p.Glu223Ala) single nucleotide variant Fanconi anemia [RCV003524211] Chr11:22625143 [GRCh38]
Chr11:22646689 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=) indel Fanconi anemia [RCV003636510] Chr11:22625306..22625307 [GRCh38]
Chr11:22646852..22646853 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.204A>G (p.Gln68=) single nucleotide variant Fanconi anemia [RCV003636811] Chr11:22625607 [GRCh38]
Chr11:22647153 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.267T>C (p.Cys89=) single nucleotide variant Fanconi anemia [RCV003636815] Chr11:22625544 [GRCh38]
Chr11:22647090 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.477G>A (p.Glu159=) single nucleotide variant Fanconi anemia [RCV003637039] Chr11:22625334 [GRCh38]
Chr11:22646880 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.507G>A (p.Leu169=) single nucleotide variant Fanconi anemia [RCV003635582] Chr11:22625304 [GRCh38]
Chr11:22646850 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.88A>G (p.Thr30Ala) single nucleotide variant Fanconi anemia [RCV003522205] Chr11:22625723 [GRCh38]
Chr11:22647269 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.537G>C (p.Lys179Asn) single nucleotide variant Fanconi anemia [RCV003859500] Chr11:22625274 [GRCh38]
Chr11:22646820 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.633G>A (p.Gln211=) single nucleotide variant Fanconi anemia [RCV003843430] Chr11:22625178 [GRCh38]
Chr11:22646724 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.664T>C (p.Leu222=) single nucleotide variant Fanconi anemia [RCV003638002] Chr11:22625147 [GRCh38]
Chr11:22646693 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.54A>G (p.Ser18=) single nucleotide variant Fanconi anemia [RCV003637687] Chr11:22625757 [GRCh38]
Chr11:22647303 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.924C>A (p.His308Gln) single nucleotide variant Fanconi anemia [RCV003866344] Chr11:22624887 [GRCh38]
Chr11:22646433 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.248T>C (p.Phe83Ser) single nucleotide variant Fanconi anemia complementation group F [RCV003991692] Chr11:22625563 [GRCh38]
Chr11:22647109 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.594G>C (p.Gln198His) single nucleotide variant Inborn genetic diseases [RCV004383727] Chr11:22625217 [GRCh38]
Chr11:22646763 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.448G>A (p.Gly150Ser) single nucleotide variant Inborn genetic diseases [RCV004383725] Chr11:22625363 [GRCh38]
Chr11:22646909 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.379G>T (p.Glu127Ter) single nucleotide variant Fanconi anemia complementation group F [RCV004576565] Chr11:22625432 [GRCh38]
Chr11:22646978 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.78G>A (p.Trp26Ter) single nucleotide variant Fanconi anemia complementation group F [RCV004576566] Chr11:22625733 [GRCh38]
Chr11:22647279 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.307dup (p.Leu103fs) duplication Fanconi anemia complementation group F [RCV004576571] Chr11:22625503..22625504 [GRCh38]
Chr11:22647049..22647050 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.774_780del (p.Leu259_Leu260insTer) deletion Fanconi anemia complementation group F [RCV004576569] Chr11:22625031..22625037 [GRCh38]
Chr11:22646577..22646583 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.235G>T (p.Gly79Ter) single nucleotide variant Fanconi anemia complementation group F [RCV004576568] Chr11:22625576 [GRCh38]
Chr11:22647122 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.1018G>T (p.Glu340Ter) single nucleotide variant Fanconi anemia complementation group F [RCV004576570] Chr11:22624793 [GRCh38]
Chr11:22646339 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.641dup (p.Leu214fs) duplication Fanconi anemia complementation group F [RCV004576567] Chr11:22625169..22625170 [GRCh38]
Chr11:22646715..22646716 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.667G>C (p.Glu223Gln) single nucleotide variant Inborn genetic diseases [RCV004383729] Chr11:22625144 [GRCh38]
Chr11:22646690 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.666G>T (p.Leu222Phe) single nucleotide variant Inborn genetic diseases [RCV004383728] Chr11:22625145 [GRCh38]
Chr11:22646691 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.830T>C (p.Leu277Pro) single nucleotide variant Inborn genetic diseases [RCV004620778] Chr11:22624981 [GRCh38]
Chr11:22646527 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.182G>A (p.Arg61Gln) single nucleotide variant Inborn genetic diseases [RCV004620779] Chr11:22625629 [GRCh38]
Chr11:22647175 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.651G>A (p.Arg217=) single nucleotide variant FANCF-related disorder [RCV004752553] Chr11:22625160 [GRCh38]
Chr11:22646706 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.698_699del (p.Gly233fs) deletion not provided [RCV004719585] Chr11:22625112..22625113 [GRCh38]
Chr11:22646658..22646659 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NC_000011.9:g.(?_22215039)_(22647356_?)dup duplication Gnathodiaphyseal dysplasia [RCV004580240] Chr11:22215039..22647356 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.1035C>T (p.Ser345=) single nucleotide variant Fanconi anemia [RCV000630967] Chr11:22624776 [GRCh38]
Chr11:22646322 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.600C>T (p.Asn200=) single nucleotide variant Fanconi anemia [RCV000631003] Chr11:22625211 [GRCh38]
Chr11:22646757 [GRCh37]
Chr11:11p14.3		 likely benign
GRCh37/hg19 11p14.3(chr11:22290214-23743998)x3 copy number gain not provided [RCV001006395] Chr11:22290214..23743998 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*539T>A single nucleotide variant Fanconi anemia complementation group F [RCV001107665] Chr11:22624147 [GRCh38]
Chr11:22645693 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.*328C>T single nucleotide variant Fanconi anemia complementation group F [RCV001107669] Chr11:22624358 [GRCh38]
Chr11:22645904 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.70A>G (p.Ser24Gly) single nucleotide variant Fanconi anemia [RCV001997625] Chr11:22625741 [GRCh38]
Chr11:22647287 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_022725.4(FANCF):c.823C>T (p.Leu275=) single nucleotide variant Fanconi anemia [RCV002090392] Chr11:22624988 [GRCh38]
Chr11:22646534 [GRCh37]
Chr11:11p14.3		 likely benign
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter) single nucleotide variant Fanconi anemia complementation group F [RCV003468149] Chr11:22625609 [GRCh38]
Chr11:22647155 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.792dup (p.Ser265Ter) duplication Fanconi anemia complementation group F [RCV003468150] Chr11:22625018..22625019 [GRCh38]
Chr11:22646564..22646565 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.736del (p.Glu246fs) deletion Fanconi anemia complementation group F [RCV003468151] Chr11:22625075 [GRCh38]
Chr11:22646621 [GRCh37]
Chr11:11p14.3		 likely pathogenic
NM_022725.4(FANCF):c.448G>C (p.Gly150Arg) single nucleotide variant Fanconi anemia [RCV003637865] Chr11:22625363 [GRCh38]
Chr11:22646909 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22207494-22985845)x1 copy number loss not specified [RCV003986916] Chr11:22207494..22985845 [GRCh37]
Chr11:11p14.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:775
Count of miRNA genes:529
Interacting mature miRNAs:577
Transcripts:ENST00000327470
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1576345LVC1_HLeft ventricular contractility QTL 1 (human)3.93Left ventricular contractility11797076733970767Human
2289313BW388_HBody weight QTL 388 (human)1.570.00356Body fat amountabdominal11443467130434671Human
1559107SCL32_HSerum cholesterol level QTL 32 (human)3.27Lipid levelLDL cholesterol11289243028892430Human
1559104SCL15_HSerum cholesterol level QTL 15 (human)2.60.06Lipid levelhyperlipidemia susceptibility111589236841892368Human
1559113SCL31_HSerum cholesterol level QTL 31 (human)3.72Lipid levelLDL cholesterol11289243028892430Human

Markers in Region
RH12721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,646,139 - 22,646,290UniSTSGRCh37
Build 361122,602,715 - 22,602,866RGDNCBI36
Celera1122,780,002 - 22,780,153RGD
Cytogenetic Map11p15UniSTS
HuRef1122,329,327 - 22,329,478UniSTS
GeneMap99-GB4 RH Map1181.76UniSTS
D11S4279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,644,659 - 22,644,781UniSTSGRCh37
Build 361122,601,235 - 22,601,357RGDNCBI36
Celera1122,778,521 - 22,778,643RGD
Cytogenetic Map11p15UniSTS
HuRef1122,327,846 - 22,327,968UniSTS
Whitehead-YAC Contig Map11 UniSTS
WI-13404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,644,612 - 22,644,736UniSTSGRCh37
Build 361122,601,188 - 22,601,312RGDNCBI36
Celera1122,778,474 - 22,778,598RGD
Cytogenetic Map11p15UniSTS
HuRef1122,327,799 - 22,327,923UniSTS
GeneMap99-GB4 RH Map1163.37UniSTS
Whitehead-RH Map1171.6UniSTS
NCBI RH Map11137.4UniSTS
RH78226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,644,653 - 22,644,786UniSTSGRCh37
Build 361122,601,229 - 22,601,362RGDNCBI36
Celera1122,778,515 - 22,778,648RGD
Cytogenetic Map11p15UniSTS
HuRef1122,327,840 - 22,327,973UniSTS
GeneMap99-GB4 RH Map1181.66UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
UniSTS:483136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,646,137 - 22,647,377UniSTSGRCh37
Celera1122,780,000 - 22,781,240UniSTS
HuRef1122,329,325 - 22,330,565UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7305 6472 53 3734 1 851 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC103801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF181994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF181995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY928335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI522448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB157038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000327470   ⟹   ENSP00000330875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,622,533 - 22,625,823 (-)Ensembl
RefSeq Acc Id: NM_022725   ⟹   NP_073562
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,622,533 - 22,625,823 (-)NCBI
GRCh371122,644,079 - 22,647,387 (-)ENTREZGENE
Build 361122,600,655 - 22,603,963 (-)NCBI Archive
HuRef1122,327,266 - 22,330,575 (-)ENTREZGENE
CHM1_11122,643,695 - 22,647,004 (-)NCBI
T2T-CHM13v2.01122,743,288 - 22,746,579 (-)NCBI
Sequence:
RefSeq Acc Id: NP_073562   ⟸   NM_022725
- UniProtKB: Q52LM0 (UniProtKB/Swiss-Prot),   Q9NPI8 (UniProtKB/Swiss-Prot),   A3KME0 (UniProtKB/TrEMBL),   Q53FK7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000330875   ⟸   ENST00000327470

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NPI8-F1-model_v2 AlphaFold Q9NPI8 1-374 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3587 AgrOrtholog
COSMIC FANCF COSMIC
Ensembl Genes ENSG00000183161 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000327470 ENTREZGENE
  ENST00000327470.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183161 GTEx
HGNC ID HGNC:3587 ENTREZGENE
Human Proteome Map FANCF Human Proteome Map
InterPro FANCF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCF_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2188 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2188 ENTREZGENE
OMIM 613897 OMIM
PANTHER FANCONI ANEMIA GROUP F PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14449 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FANCF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28001 PharmGKB
UniProt A3KME0 ENTREZGENE, UniProtKB/TrEMBL
  FANCF_HUMAN UniProtKB/Swiss-Prot
  Q52LM0 ENTREZGENE
  Q53FK7 ENTREZGENE, UniProtKB/TrEMBL
  Q9NPI8 ENTREZGENE
UniProt Secondary Q52LM0 UniProtKB/Swiss-Prot


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