FANCE (FA complementation group E) - Rat Genome Database

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Gene: FANCE (FA complementation group E) Homo sapiens
Analyze
Symbol: FANCE
Name: FA complementation group E
RGD ID: 1354425
HGNC Page HGNC:3586
Description: Predicted to be involved in interstrand cross-link repair. Located in centrosome; chromatin; and nucleoplasm. Part of Fanconi anaemia nuclear complex. Implicated in Fanconi anemia complementation group E.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FACE; FAE; Fanconi anemia complementation group E; Fanconi anemia group E protein; Fanconi anemia, complementation group E
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38635,452,338 - 35,467,102 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl635,452,338 - 35,467,104 (+)EnsemblGRCh38hg38GRCh38
GRCh37635,420,115 - 35,434,879 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36635,528,116 - 35,542,859 (+)NCBINCBI36Build 36hg18NCBI36
Build 34635,528,115 - 35,542,859NCBI
Celera636,974,117 - 36,988,860 (+)NCBICelera
Cytogenetic Map6p21.31NCBI
HuRef635,140,912 - 35,155,635 (+)NCBIHuRef
CHM1_1635,422,162 - 35,436,892 (+)NCBICHM1_1
T2T-CHM13v2.0635,275,414 - 35,290,178 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal heart 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 radius  (IAGP)
Absent testis  (IAGP)
Absent thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Anemic pallor  (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)
Breast carcinoma  (IAGP)
Bruising susceptibility  (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)
Colon cancer  (IAGP)
Complete duplication of thumb phalanx  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in males  (IAGP)
Deficient excision of UV-induced pyrimidine dimers in DNA  (IAGP)
Dolichocephaly  (IAGP)
Duodenal stenosis  (IAGP)
Duplicated collecting system  (IAGP)
Ectopic kidney  (IAGP)
Epicanthus  (IAGP)
Facial asymmetry  (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)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Leukemia  (IAGP)
Leukopenia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Neoplasm  (IAGP)
Neutropenia  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Ovarian neoplasm  (IAGP)
Pancytopenia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Prolonged G2 phase of cell cycle  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Reticulocytopenia  (IAGP)
Scoliosis  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Sloping forehead  (IAGP)
Small for gestational age  (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)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. de Winter JP, etal., Am J Hum Genet. 2000 Nov;67(5):1306-8. Epub 2000 Sep 19.
2. Primary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation in a Mouse Model. Fu C, etal., PLoS One. 2016 Mar 3;11(3):e0144285. doi: 10.1371/journal.pone.0144285. eCollection 2016.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7662964   PMID:9147877   PMID:9382107   PMID:10205272   PMID:11157805   PMID:12093742   PMID:12239156   PMID:12477932   PMID:12649160   PMID:12724401   PMID:12973351   PMID:14574404  
PMID:14625294   PMID:15082718   PMID:15115758   PMID:15199141   PMID:15262960   PMID:15489334   PMID:15502827   PMID:16116422   PMID:16116434   PMID:16127171   PMID:16513431   PMID:17082180  
PMID:17289582   PMID:17296736   PMID:17308347   PMID:17396147   PMID:18285517   PMID:18550849   PMID:18950845   PMID:19064572   PMID:19321451   PMID:19322201   PMID:19536649   PMID:19690177  
PMID:19704162   PMID:19714462   PMID:19965384   PMID:20064461   PMID:20301575   PMID:20301753   PMID:20347428   PMID:20360068   PMID:20496165   PMID:20800603   PMID:20937699   PMID:21873635  
PMID:22266823   PMID:22343915   PMID:22705371   PMID:23284291   PMID:23303816   PMID:24451376   PMID:24469828   PMID:24699063   PMID:24910428   PMID:26277624   PMID:27986371   PMID:28514442  
PMID:29656893   PMID:30686591   PMID:33592580   PMID:33961781   PMID:34724663   PMID:35906200   PMID:37184052  


Genomics

Comparative Map Data
FANCE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38635,452,338 - 35,467,102 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl635,452,338 - 35,467,104 (+)EnsemblGRCh38hg38GRCh38
GRCh37635,420,115 - 35,434,879 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36635,528,116 - 35,542,859 (+)NCBINCBI36Build 36hg18NCBI36
Build 34635,528,115 - 35,542,859NCBI
Celera636,974,117 - 36,988,860 (+)NCBICelera
Cytogenetic Map6p21.31NCBI
HuRef635,140,912 - 35,155,635 (+)NCBIHuRef
CHM1_1635,422,162 - 35,436,892 (+)NCBICHM1_1
T2T-CHM13v2.0635,275,414 - 35,290,178 (+)NCBIT2T-CHM13v2.0
Fance
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391728,532,504 - 28,545,548 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1728,532,493 - 28,545,546 (+)EnsemblGRCm39 Ensembl
GRCm381728,313,530 - 28,326,574 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1728,313,519 - 28,326,572 (+)EnsemblGRCm38mm10GRCm38
MGSCv371728,450,475 - 28,463,519 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361728,040,969 - 28,054,161 (+)NCBIMGSCv36mm8
Celera1728,867,357 - 28,880,396 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1714.65NCBI
Fance
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8206,371,153 - 6,388,366 (+)NCBIGRCr8
mRatBN7.2206,369,416 - 6,386,631 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl206,375,573 - 6,386,631 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx207,082,166 - 7,099,278 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0206,443,996 - 6,461,108 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0206,923,494 - 6,940,584 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0207,888,927 - 7,906,142 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl207,895,083 - 7,906,142 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02010,089,291 - 10,106,503 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4206,549,701 - 6,566,916 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera207,925,780 - 7,943,019 (+)NCBICelera
Cytogenetic Map20p12NCBI
Fance
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554373,369,042 - 3,382,783 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554373,369,127 - 3,382,072 (+)NCBIChiLan1.0ChiLan1.0
FANCE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2549,917,947 - 49,932,888 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1645,785,919 - 45,800,863 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0635,012,076 - 35,027,018 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1636,105,759 - 36,120,795 (+)NCBIpanpan1.1PanPan1.1panPan2
FANCE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1124,587,053 - 4,600,946 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl124,587,041 - 4,600,405 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha124,602,678 - 4,616,472 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0124,924,900 - 4,938,771 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl124,924,723 - 4,938,600 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1124,585,816 - 4,599,553 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0124,664,495 - 4,678,347 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0124,764,698 - 4,778,520 (+)NCBIUU_Cfam_GSD_1.0
Fance
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494640,165,402 - 40,177,074 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647623,782,977 - 23,794,708 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647623,783,161 - 23,794,646 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FANCE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11736,659,266 - 36,671,274 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604435,365,240 - 35,377,238 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fance
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475421,993,271 - 22,000,398 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475421,992,023 - 22,000,309 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FANCE
640 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021922.3(FANCE):c.953_958del (p.Glu318_Ser320delinsGly) deletion Fanconi anemia complementation group E [RCV000552235]|not provided [RCV002282224] Chr6:35457968..35457973 [GRCh38]
Chr6:35425745..35425750 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.798G>A (p.Ser266=) single nucleotide variant Fanconi anemia complementation group E [RCV000549396] Chr6:35456296 [GRCh38]
Chr6:35424073 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.365A>T (p.Gln122Leu) single nucleotide variant Fanconi anemia complementation group E [RCV000550712] Chr6:35455863 [GRCh38]
Chr6:35423640 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.999C>T (p.Leu333=) single nucleotide variant Fanconi anemia complementation group E [RCV000532920] Chr6:35458326 [GRCh38]
Chr6:35426103 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1074dup (p.Asn359fs) duplication not specified [RCV000121011] Chr6:35458400..35458401 [GRCh38]
Chr6:35426177..35426178 [GRCh37]
Chr6:6p21.31		 not provided
NM_021922.3(FANCE):c.1114-8G>A single nucleotide variant Fanconi anemia complementation group E [RCV000009249]|not provided [RCV003884334] Chr6:35459323 [GRCh38]
Chr6:35427100 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_021922.3(FANCE):c.856-3C>T single nucleotide variant Fanconi anemia complementation group E [RCV000527593] Chr6:35457553 [GRCh38]
Chr6:35425330 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) single nucleotide variant Fanconi anemia complementation group E [RCV000009247] Chr6:35455853 [GRCh38]
Chr6:35423630 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) single nucleotide variant Fanconi anemia complementation group E [RCV000009248] Chr6:35455919 [GRCh38]
Chr6:35423696 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.2(FANCE):c.916G>A (p.Glu306Lys) single nucleotide variant Malignant melanoma [RCV000061414] Chr6:35457931 [GRCh38]
Chr6:35425708 [GRCh37]
Chr6:35533686 [NCBI36]
Chr6:6p21.31		 not provided
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr) single nucleotide variant FANCE-related condition [RCV003945072]|Fanconi anemia [RCV002256062]|Fanconi anemia complementation group E [RCV000460529]|not provided [RCV001762260]|not specified [RCV000121004] Chr6:35452774 [GRCh38]
Chr6:35420551 [GRCh37]
Chr6:6p21.31		 uncertain significance|not provided
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) single nucleotide variant Fanconi anemia [RCV002257437]|Fanconi anemia complementation group E [RCV000687310]|not provided [RCV003237728]|not specified [RCV000121005] Chr6:35452597 [GRCh38]
Chr6:35420374 [GRCh37]
Chr6:6p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_021922.3(FANCE):c.94G>A (p.Ala32Thr) single nucleotide variant not specified [RCV000121006] Chr6:35452639 [GRCh38]
Chr6:35420416 [GRCh37]
Chr6:6p21.31		 not provided
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) single nucleotide variant Fanconi anemia complementation group E [RCV000467840]|not provided [RCV001194802]|not specified [RCV000121007] Chr6:35456109 [GRCh38]
Chr6:35423886 [GRCh37]
Chr6:6p21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu) single nucleotide variant Fanconi anemia complementation group E [RCV000229853]|not provided [RCV003884352]|not specified [RCV000121008] Chr6:35455764 [GRCh38]
Chr6:35423541 [GRCh37]
Chr6:6p21.31		 benign|likely benign|not provided
NM_021922.3(FANCE):c.929del (p.Pro310fs) deletion Fanconi anemia complementation group E [RCV003460852]|not specified [RCV000121009] Chr6:35457938 [GRCh38]
Chr6:35425715 [GRCh37]
Chr6:6p21.31		 likely pathogenic|not provided
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln) single nucleotide variant Exstrophy-epispadias complex [RCV003389394]|Fanconi anemia complementation group E [RCV000689014]|Ovarian cancer [RCV003153392]|not specified [RCV000121010] Chr6:35457944 [GRCh38]
Chr6:35425721 [GRCh37]
Chr6:6p21.31		 likely pathogenic|uncertain significance|not provided
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser) single nucleotide variant Fanconi anemia complementation group E [RCV001153476]|not specified [RCV000121012] Chr6:35458422 [GRCh38]
Chr6:35426199 [GRCh37]
Chr6:6p21.31		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_021922.3(FANCE):c.1058C>T (p.Pro353Leu) single nucleotide variant Fanconi anemia complementation group E [RCV001854627]|not specified [RCV000121013] Chr6:35458385 [GRCh38]
Chr6:35426162 [GRCh37]
Chr6:6p21.31		 uncertain significance|not provided
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg) single nucleotide variant Fanconi anemia complementation group E [RCV000231935]|not provided [RCV001194808]|not specified [RCV000121014] Chr6:35458345 [GRCh38]
Chr6:35426122 [GRCh37]
Chr6:6p21.31		 uncertain significance|not provided
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) single nucleotide variant Fanconi anemia complementation group E [RCV000473518]|not specified [RCV000121015] Chr6:35458355 [GRCh38]
Chr6:35426132 [GRCh37]
Chr6:6p21.31		 benign|not provided
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) single nucleotide variant Fanconi anemia [RCV002257438]|Fanconi anemia complementation group E [RCV000468358]|not specified [RCV000121016] Chr6:35459358 [GRCh38]
Chr6:35427135 [GRCh37]
Chr6:6p21.31		 uncertain significance|not provided
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) single nucleotide variant Fanconi anemia complementation group E [RCV000229190]|Ovarian cancer [RCV003153393]|not specified [RCV000121017] Chr6:35460568 [GRCh38]
Chr6:35428345 [GRCh37]
Chr6:6p21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_021922.3(FANCE):c.1509C>T (p.Asn503=) single nucleotide variant Fanconi anemia complementation group E [RCV000227002]|not specified [RCV000121018] Chr6:35462914 [GRCh38]
Chr6:35430691 [GRCh37]
Chr6:6p21.31		 benign|likely benign|not provided
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) single nucleotide variant Fanconi anemia complementation group E [RCV000860473]|not provided [RCV001541132]|not specified [RCV000121019] Chr6:35462909 [GRCh38]
Chr6:35430686 [GRCh37]
Chr6:6p21.31		 benign|not provided
NM_021922.3(FANCE):c.118G>C (p.Ala40Pro) single nucleotide variant Fanconi anemia complementation group E [RCV001944927] Chr6:35452663 [GRCh38]
Chr6:35420440 [GRCh37]
Chr6:6p21.31		 uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
NM_021922.3(FANCE):c.1510-11C>T single nucleotide variant Fanconi anemia complementation group E [RCV000402087]|not provided [RCV001565912]|not specified [RCV000193517] Chr6:35466233 [GRCh38]
Chr6:35434010 [GRCh37]
Chr6:6p21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) microsatellite FANCE-related condition [RCV003977513]|Fanconi anemia [RCV002257490]|Fanconi anemia complementation group E [RCV000460780]|not provided [RCV001618340]|not specified [RCV000194366] Chr6:35456231..35456233 [GRCh38]
Chr6:35424008..35424010 [GRCh37]
Chr6:6p21.31		 benign|likely benign
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter) single nucleotide variant Fanconi anemia complementation group E [RCV000259825] Chr6:35455978 [GRCh38]
Chr6:35423755 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) single nucleotide variant Fanconi anemia [RCV002256121]|Fanconi anemia complementation group E [RCV000204051]|not provided [RCV001092260]|not specified [RCV000503170] Chr6:35466306 [GRCh38]
Chr6:35434083 [GRCh37]
Chr6:6p21.31		 benign|likely benign|uncertain significance
NM_021922.3(FANCE):c.1309A>G (p.Met437Val) single nucleotide variant Fanconi anemia complementation group E [RCV000543258] Chr6:35459753 [GRCh38]
Chr6:35427530 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1582A>C (p.Lys528Gln) single nucleotide variant Fanconi anemia complementation group E [RCV000544056] Chr6:35466316 [GRCh38]
Chr6:35434093 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1459A>G (p.Met487Val) single nucleotide variant Fanconi anemia complementation group E [RCV000233167] Chr6:35462864 [GRCh38]
Chr6:35430641 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1057C>G (p.Pro353Ala) single nucleotide variant Fanconi anemia complementation group E [RCV000226346] Chr6:35458384 [GRCh38]
Chr6:35426161 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg) single nucleotide variant Fanconi anemia complementation group E [RCV000460473]|not specified [RCV001821089] Chr6:35462829 [GRCh38]
Chr6:35430606 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.387A>C (p.Pro129=) single nucleotide variant Fanconi anemia complementation group E [RCV000860093]|not provided [RCV001194799]|not specified [RCV000246343] Chr6:35455885 [GRCh38]
Chr6:35423662 [GRCh37]
Chr6:6p21.31		 benign|uncertain significance
NM_021922.3(FANCE):c.249-35A>G single nucleotide variant Fanconi anemia complementation group E [RCV001701824]|not provided [RCV001689907]|not specified [RCV000253913] Chr6:35455712 [GRCh38]
Chr6:35423489 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.1316+19G>A single nucleotide variant Fanconi anemia complementation group E [RCV001514685]|not provided [RCV001194812]|not specified [RCV000244196] Chr6:35459779 [GRCh38]
Chr6:35427556 [GRCh37]
Chr6:6p21.31		 benign|uncertain significance
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) single nucleotide variant Fanconi anemia complementation group E [RCV000456346]|not provided [RCV001194810]|not specified [RCV000251793] Chr6:35458398 [GRCh38]
Chr6:35426175 [GRCh37]
Chr6:6p21.31		 benign|likely benign|uncertain significance
NM_021922.3(FANCE):c.900+39A>G single nucleotide variant Fanconi anemia complementation group E [RCV001702401]|not provided [RCV001194805]|not specified [RCV000254211] Chr6:35457639 [GRCh38]
Chr6:35425416 [GRCh37]
Chr6:6p21.31		 benign|uncertain significance
NM_021922.3(FANCE):c.696G>A (p.Glu232=) single nucleotide variant FANCE-related condition [RCV003932471]|Fanconi anemia [RCV002256221]|Fanconi anemia complementation group E [RCV000862983]|not specified [RCV001821088] Chr6:35456194 [GRCh38]
Chr6:35423971 [GRCh37]
Chr6:6p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.-19G>C single nucleotide variant Fanconi anemia complementation group E [RCV000344963] Chr6:35452527 [GRCh38]
Chr6:35420304 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.*216del deletion Fanconi anemia [RCV000314729]|not provided [RCV001653708] Chr6:35466561 [GRCh38]
Chr6:35434338 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) single nucleotide variant Fanconi anemia complementation group E [RCV000467424]|Malignant tumor of breast [RCV001269487]|not provided [RCV001653707] Chr6:35455751 [GRCh38]
Chr6:35423528 [GRCh37]
Chr6:6p21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.248+7C>A single nucleotide variant Fanconi anemia [RCV002257654]|Fanconi anemia complementation group E [RCV000465264]|not specified [RCV001821087] Chr6:35452800 [GRCh38]
Chr6:35420577 [GRCh37]
Chr6:6p21.31		 benign|likely benign
NM_021922.3(FANCE):c.552A>C (p.Pro184=) single nucleotide variant FANCE-related condition [RCV003972502]|Fanconi anemia complementation group E [RCV000868246] Chr6:35456050 [GRCh38]
Chr6:35423827 [GRCh37]
Chr6:6p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.-56C>T single nucleotide variant Fanconi anemia complementation group E [RCV000287589] Chr6:35452490 [GRCh38]
Chr6:35420267 [GRCh37]
Chr6:6p21.31		 benign|likely benign
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp) single nucleotide variant Fanconi anemia complementation group E [RCV000376250]|not specified [RCV003151044] Chr6:35460613 [GRCh38]
Chr6:35428390 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) single nucleotide variant Fanconi anemia [RCV002255375]|Fanconi anemia complementation group E [RCV001041144]|Ovarian cancer [RCV003153564] Chr6:35458304 [GRCh38]
Chr6:35426081 [GRCh37]
Chr6:6p21.31		 likely pathogenic|uncertain significance
NM_021922.3(FANCE):c.*151A>G single nucleotide variant Fanconi anemia complementation group E [RCV000390487]|not provided [RCV001692026] Chr6:35466496 [GRCh38]
Chr6:35434273 [GRCh37]
Chr6:6p21.31		 benign|likely benign
NM_021922.3(FANCE):c.*322C>T single nucleotide variant Fanconi anemia complementation group E [RCV000367062] Chr6:35466667 [GRCh38]
Chr6:35434444 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-100C>T single nucleotide variant Fanconi anemia complementation group E [RCV000393259] Chr6:35452446 [GRCh38]
Chr6:35420223 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro) single nucleotide variant Fanconi anemia complementation group E [RCV000271909] Chr6:35458334 [GRCh38]
Chr6:35426111 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.*401G>C single nucleotide variant Fanconi anemia complementation group E [RCV000274843] Chr6:35466746 [GRCh38]
Chr6:35434523 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.561A>G (p.Glu187=) single nucleotide variant Fanconi anemia complementation group E [RCV000526284] Chr6:35456059 [GRCh38]
Chr6:35423836 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe) single nucleotide variant Fanconi anemia complementation group E [RCV000330627]|not provided [RCV002508211] Chr6:35457562 [GRCh38]
Chr6:35425339 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-105C>T single nucleotide variant Fanconi anemia complementation group E [RCV000346170]|not provided [RCV001194793] Chr6:35452441 [GRCh38]
Chr6:35420218 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro) single nucleotide variant Fanconi anemia complementation group E [RCV000649003] Chr6:35452549 [GRCh38]
Chr6:35420326 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-132A>G single nucleotide variant Fanconi anemia complementation group E [RCV000293329] Chr6:35452414 [GRCh38]
Chr6:35420191 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.216G>T (p.Pro72=) single nucleotide variant Fanconi anemia complementation group E [RCV000305991] Chr6:35452761 [GRCh38]
Chr6:35420538 [GRCh37]
Chr6:6p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.-182G>A single nucleotide variant Fanconi anemia complementation group E [RCV000385520] Chr6:35452364 [GRCh38]
Chr6:35420141 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1593G>A (p.Leu531=) single nucleotide variant Fanconi anemia complementation group E [RCV000335592] Chr6:35466327 [GRCh38]
Chr6:35434104 [GRCh37]
Chr6:6p21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.*729A>G single nucleotide variant Fanconi anemia [RCV000308983] Chr6:35467074 [GRCh38]
Chr6:35434851 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp) single nucleotide variant Fanconi anemia complementation group E [RCV000793453] Chr6:35459734 [GRCh38]
Chr6:35427511 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr) single nucleotide variant Fanconi anemia complementation group E [RCV000530647] Chr6:35459406 [GRCh38]
Chr6:35427183 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.524del (p.Gly175fs) deletion Fanconi anemia complementation group E [RCV003460997]|not provided [RCV000722244] Chr6:35456017 [GRCh38]
Chr6:35423794 [GRCh37]
Chr6:6p21.31		 likely pathogenic|uncertain significance
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg) single nucleotide variant Fanconi anemia complementation group E [RCV000538869] Chr6:35456090 [GRCh38]
Chr6:35423867 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys) single nucleotide variant Carcinoma of colon [RCV000416904]|Fanconi anemia complementation group E [RCV000649006]|not specified [RCV003488462] Chr6:35456096 [GRCh38]
Chr6:35423873 [GRCh37]
Chr6:6p21.31		 likely pathogenic|uncertain significance
GRCh37/hg19 6p21.31(chr6:35285720-35434273) copy number gain Abnormal esophagus morphology [RCV000416907] Chr6:35285720..35434273 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe) single nucleotide variant Fanconi anemia complementation group E [RCV000458900] Chr6:35455895 [GRCh38]
Chr6:35423672 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1510-9T>C single nucleotide variant Fanconi anemia complementation group E [RCV001471906] Chr6:35466235 [GRCh38]
Chr6:35434012 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) single nucleotide variant Fanconi anemia [RCV002256300]|Fanconi anemia complementation group E [RCV000474134]|not specified [RCV001821341] Chr6:35459754 [GRCh38]
Chr6:35427531 [GRCh37]
Chr6:6p21.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_021922.3(FANCE):c.297del (p.Met99fs) deletion Fanconi anemia complementation group E [RCV003464038]|not provided [RCV000481377] Chr6:35455795 [GRCh38]
Chr6:35423572 [GRCh37]
Chr6:6p21.31		 likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly) single nucleotide variant Fanconi anemia [RCV002255392]|Fanconi anemia complementation group E [RCV000474425]|not provided [RCV002280117] Chr6:35455809 [GRCh38]
Chr6:35423586 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.210G>A (p.Glu70=) single nucleotide variant Fanconi anemia complementation group E [RCV000475331] Chr6:35452755 [GRCh38]
Chr6:35420532 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser) single nucleotide variant Fanconi anemia complementation group E [RCV000476331] Chr6:35452759 [GRCh38]
Chr6:35420536 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr) single nucleotide variant Fanconi anemia complementation group E [RCV000467955] Chr6:35452576 [GRCh38]
Chr6:35420353 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys) single nucleotide variant Fanconi anemia complementation group E [RCV000464821] Chr6:35455898 [GRCh38]
Chr6:35423675 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr) single nucleotide variant Fanconi anemia complementation group E [RCV000476236] Chr6:35466322 [GRCh38]
Chr6:35434099 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1606C>G (p.Pro536Ala) single nucleotide variant Fanconi anemia complementation group E [RCV000465072] Chr6:35466340 [GRCh38]
Chr6:35434117 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1383+10C>T single nucleotide variant Fanconi anemia complementation group E [RCV001472346] Chr6:35460628 [GRCh38]
Chr6:35428405 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.436G>T (p.Val146Leu) single nucleotide variant Fanconi anemia [RCV002256267]|Fanconi anemia complementation group E [RCV000458433]|Inborn genetic diseases [RCV003168796] Chr6:35455934 [GRCh38]
Chr6:35423711 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1116C>T (p.Ile372=) single nucleotide variant Fanconi anemia [RCV002256301]|Fanconi anemia complementation group E [RCV000462289]|not specified [RCV001821342] Chr6:35459333 [GRCh38]
Chr6:35427110 [GRCh37]
Chr6:6p21.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_021922.3(FANCE):c.1464C>T (p.Ala488=) single nucleotide variant Fanconi anemia complementation group E [RCV001429529] Chr6:35462869 [GRCh38]
Chr6:35430646 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.246G>A (p.Glu82=) single nucleotide variant FANCE-related condition [RCV003960073]|Fanconi anemia complementation group E [RCV001467471] Chr6:35452791 [GRCh38]
Chr6:35420568 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.812C>T (p.Ala271Val) single nucleotide variant Fanconi anemia complementation group E [RCV000473654] Chr6:35456310 [GRCh38]
Chr6:35424087 [GRCh37]
Chr6:6p21.31		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg) single nucleotide variant Fanconi anemia complementation group E [RCV000539612]|not specified [RCV000501716] Chr6:35457944 [GRCh38]
Chr6:35425721 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met) single nucleotide variant FANCE-related condition [RCV003424132]|Fanconi anemia complementation group E [RCV000556590] Chr6:35466325 [GRCh38]
Chr6:35434102 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1480C>G (p.Leu494Val) single nucleotide variant Inborn genetic diseases [RCV003271464] Chr6:35462885 [GRCh38]
Chr6:35430662 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1336T>C (p.Trp446Arg) single nucleotide variant Fanconi anemia complementation group E [RCV000535961] Chr6:35460571 [GRCh38]
Chr6:35428348 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.246G>C (p.Glu82Asp) single nucleotide variant Inborn genetic diseases [RCV003278014] Chr6:35452791 [GRCh38]
Chr6:35420568 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln) single nucleotide variant Fanconi anemia complementation group E [RCV000537323]|Inborn genetic diseases [RCV002530181]|not provided [RCV001797103]|not specified [RCV001821581] Chr6:35452751 [GRCh38]
Chr6:35420528 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val) single nucleotide variant Fanconi anemia complementation group E [RCV000560351] Chr6:35459760 [GRCh38]
Chr6:35427537 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) single nucleotide variant Fanconi anemia [RCV002256387]|Fanconi anemia complementation group E [RCV000525524]|not specified [RCV001821582] Chr6:35455772 [GRCh38]
Chr6:35423549 [GRCh37]
Chr6:6p21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.679G>A (p.Glu227Lys) single nucleotide variant Fanconi anemia complementation group E [RCV000556008] Chr6:35456177 [GRCh38]
Chr6:35423954 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr) single nucleotide variant Fanconi anemia [RCV002258965]|Fanconi anemia complementation group E [RCV000538084]|not specified [RCV001821583] Chr6:35455796 [GRCh38]
Chr6:35423573 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro) single nucleotide variant Fanconi anemia complementation group E [RCV000649001]|not specified [RCV000609034] Chr6:35460566 [GRCh38]
Chr6:35428343 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) single nucleotide variant Fanconi anemia [RCV002257904]|Fanconi anemia complementation group E [RCV000648999]|not specified [RCV002235507] Chr6:35466344 [GRCh38]
Chr6:35434121 [GRCh37]
Chr6:6p21.31		 likely pathogenic|uncertain significance
NM_021922.3(FANCE):c.1520C>T (p.Thr507Ile) single nucleotide variant Fanconi anemia complementation group E [RCV000649000] Chr6:35466254 [GRCh38]
Chr6:35434031 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp) single nucleotide variant Fanconi anemia complementation group E [RCV000649002] Chr6:35458354 [GRCh38]
Chr6:35426131 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp) single nucleotide variant Fanconi anemia complementation group E [RCV000649004]|not provided [RCV001766400] Chr6:35455814 [GRCh38]
Chr6:35423591 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro) single nucleotide variant Fanconi anemia complementation group E [RCV000649005] Chr6:35458325 [GRCh38]
Chr6:35426102 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.457G>A (p.Ala153Thr) single nucleotide variant Fanconi anemia complementation group E [RCV000649007] Chr6:35455955 [GRCh38]
Chr6:35423732 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys) single nucleotide variant Fanconi anemia complementation group E [RCV000649008] Chr6:35456057 [GRCh38]
Chr6:35423834 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.88CTGCAGGCG[1] (p.30LQA[1]) microsatellite Fanconi anemia complementation group E [RCV000649009] Chr6:35452632..35452640 [GRCh38]
Chr6:35420409..35420417 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) single nucleotide variant FANCE-related condition [RCV003937954]|Fanconi anemia [RCV002256452]|Fanconi anemia complementation group E [RCV000649010]|not provided [RCV002269298] Chr6:35455782 [GRCh38]
Chr6:35423559 [GRCh37]
Chr6:6p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.1053T>G (p.Leu351=) single nucleotide variant Fanconi anemia complementation group E [RCV000649011] Chr6:35458380 [GRCh38]
Chr6:35426157 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1316+10C>T single nucleotide variant Fanconi anemia complementation group E [RCV000649012] Chr6:35459770 [GRCh38]
Chr6:35427547 [GRCh37]
Chr6:6p21.31		 likely benign
GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3 copy number gain not provided [RCV000682660] Chr6:34683518..36905281 [GRCh37]
Chr6:6p21.31-21.2		 likely pathogenic
NM_021922.3(FANCE):c.169C>T (p.Pro57Ser) single nucleotide variant Fanconi anemia complementation group E [RCV000700588] Chr6:35452714 [GRCh38]
Chr6:35420491 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1509+3G>A single nucleotide variant Fanconi anemia complementation group E [RCV000702371] Chr6:35462917 [GRCh38]
Chr6:35430694 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.358A>G (p.Ile120Val) single nucleotide variant Fanconi anemia complementation group E [RCV000705786]|Ovarian cancer [RCV003153821] Chr6:35455856 [GRCh38]
Chr6:35423633 [GRCh37]
Chr6:6p21.31		 benign|likely benign|uncertain significance
NM_021922.3(FANCE):c.1278G>A (p.Met426Ile) single nucleotide variant Fanconi anemia complementation group E [RCV000689181] Chr6:35459722 [GRCh38]
Chr6:35427499 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_021922.3(FANCE):c.746C>T (p.Ser249Phe) single nucleotide variant Fanconi anemia complementation group E [RCV000706020] Chr6:35456244 [GRCh38]
Chr6:35424021 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) single nucleotide variant Fanconi anemia complementation group E [RCV000686258]|not provided [RCV001816698] Chr6:35458438 [GRCh38]
Chr6:35426215 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic|uncertain significance
NM_021922.3(FANCE):c.742del (p.Ala248fs) deletion not provided [RCV000722582] Chr6:35456240 [GRCh38]
Chr6:35424017 [GRCh37]
Chr6:6p21.31		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_021922.3(FANCE):c.522G>A (p.Gly174=) single nucleotide variant FANCE-related condition [RCV003908171]|Fanconi anemia [RCV002255549]|Fanconi anemia complementation group E [RCV001465677] Chr6:35456020 [GRCh38]
Chr6:35423797 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.855+138A>G single nucleotide variant not provided [RCV001693308] Chr6:35456491 [GRCh38]
Chr6:35424268 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.1114-317C>T single nucleotide variant not provided [RCV001576527] Chr6:35459014 [GRCh38]
Chr6:35426791 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.542C>T (p.Pro181Leu) single nucleotide variant Fanconi anemia complementation group E [RCV001067717] Chr6:35456040 [GRCh38]
Chr6:35423817 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.792C>T (p.Asp264=) single nucleotide variant Fanconi anemia complementation group E [RCV000867778] Chr6:35456290 [GRCh38]
Chr6:35424067 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1114-4G>A single nucleotide variant FANCE-related condition [RCV003948087]|Fanconi anemia [RCV002258008]|Fanconi anemia complementation group E [RCV000863828] Chr6:35459327 [GRCh38]
Chr6:35427104 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_021922.3(FANCE):c.14A>T (p.Asp5Val) single nucleotide variant Fanconi anemia complementation group E [RCV001051293] Chr6:35452559 [GRCh38]
Chr6:35420336 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.954A>G (p.Glu318=) single nucleotide variant Fanconi anemia complementation group E [RCV001450573] Chr6:35457969 [GRCh38]
Chr6:35425746 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.148C>T (p.Leu50=) single nucleotide variant Fanconi anemia complementation group E [RCV002539204] Chr6:35452693 [GRCh38]
Chr6:35420470 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.199C>T (p.Leu67=) single nucleotide variant Fanconi anemia complementation group E [RCV001479467] Chr6:35452744 [GRCh38]
Chr6:35420521 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1509+8T>C single nucleotide variant Fanconi anemia complementation group E [RCV001464344] Chr6:35462922 [GRCh38]
Chr6:35430699 [GRCh37]
Chr6:6p21.31		 likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_021922.3(FANCE):c.970-6A>T single nucleotide variant Fanconi anemia complementation group E [RCV000818885] Chr6:35458291 [GRCh38]
Chr6:35426068 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro) single nucleotide variant Fanconi anemia complementation group E [RCV000799206]|See cases [RCV002252240] Chr6:35452610 [GRCh38]
Chr6:35420387 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe) single nucleotide variant Fanconi anemia complementation group E [RCV000818139] Chr6:35462871 [GRCh38]
Chr6:35430648 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.929dup (p.Val311fs) duplication Carcinoma of pancreas [RCV001391222]|Fanconi anemia complementation group E [RCV000811557]|not provided [RCV001194806] Chr6:35457937..35457938 [GRCh38]
Chr6:35425714..35425715 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic|uncertain significance
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter) single nucleotide variant Fanconi anemia complementation group E [RCV001065359] Chr6:35457955 [GRCh38]
Chr6:35425732 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr) single nucleotide variant Fanconi anemia complementation group E [RCV000796513] Chr6:35452720 [GRCh38]
Chr6:35420497 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.656G>T (p.Arg219Ile) single nucleotide variant Fanconi anemia complementation group E [RCV000807538] Chr6:35456154 [GRCh38]
Chr6:35423931 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.466C>T (p.Leu156=) single nucleotide variant Fanconi anemia complementation group E [RCV001458990] Chr6:35455964 [GRCh38]
Chr6:35423741 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro) single nucleotide variant Fanconi anemia complementation group E [RCV000822734] Chr6:35455854 [GRCh38]
Chr6:35423631 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg) single nucleotide variant Fanconi anemia complementation group E [RCV000791875] Chr6:35457983 [GRCh38]
Chr6:35425760 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.851T>C (p.Ile284Thr) single nucleotide variant Fanconi anemia complementation group E [RCV000823225]|Inborn genetic diseases [RCV002535979] Chr6:35456349 [GRCh38]
Chr6:35424126 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1425G>A (p.Lys475=) single nucleotide variant not provided [RCV000894166] Chr6:35462830 [GRCh38]
Chr6:35430607 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg) single nucleotide variant Fanconi anemia [RCV002256677]|Fanconi anemia complementation group E [RCV001067914] Chr6:35452678 [GRCh38]
Chr6:35420455 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1066A>G (p.Ser356Gly) single nucleotide variant Fanconi anemia complementation group E [RCV001194809] Chr6:35458393 [GRCh38]
Chr6:35426170 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-167C>T single nucleotide variant Fanconi anemia complementation group E [RCV001152085] Chr6:35452379 [GRCh38]
Chr6:35420156 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-197C>T single nucleotide variant Fanconi anemia complementation group E [RCV001152084] Chr6:35452349 [GRCh38]
Chr6:35420126 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-162G>C single nucleotide variant Fanconi anemia complementation group E [RCV001152086] Chr6:35452384 [GRCh38]
Chr6:35420161 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.9A>C (p.Thr3=) single nucleotide variant not provided [RCV001194794] Chr6:35452554 [GRCh38]
Chr6:35420331 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.855+58A>G single nucleotide variant not provided [RCV001194803] Chr6:35456411 [GRCh38]
Chr6:35424188 [GRCh37]
Chr6:6p21.31		 benign|uncertain significance
NM_021922.3(FANCE):c.248+2T>C single nucleotide variant Fanconi anemia complementation group E [RCV000987684] Chr6:35452795 [GRCh38]
Chr6:35420572 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.248+5G>A single nucleotide variant Fanconi anemia complementation group E [RCV002549095]|not provided [RCV000998590] Chr6:35452798 [GRCh38]
Chr6:35420575 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.17C>T (p.Ala6Val) single nucleotide variant Fanconi anemia complementation group E [RCV001231176] Chr6:35452562 [GRCh38]
Chr6:35420339 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1392G>T (p.Met464Ile) single nucleotide variant Fanconi anemia complementation group E [RCV001216388] Chr6:35462797 [GRCh38]
Chr6:35430574 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.127G>A (p.Gly43Ser) single nucleotide variant Fanconi anemia complementation group E [RCV001221081] Chr6:35452672 [GRCh38]
Chr6:35420449 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1112G>A (p.Arg371Gln) single nucleotide variant Fanconi anemia complementation group E [RCV001210089] Chr6:35458439 [GRCh38]
Chr6:35426216 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.599G>A (p.Arg200His) single nucleotide variant Fanconi anemia complementation group E [RCV001230374] Chr6:35456097 [GRCh38]
Chr6:35423874 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.426G>A (p.Arg142=) single nucleotide variant Fanconi anemia complementation group E [RCV003118436] Chr6:35455924 [GRCh38]
Chr6:35423701 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.927C>T (p.Pro309=) single nucleotide variant Fanconi anemia complementation group E [RCV003110834] Chr6:35457942 [GRCh38]
Chr6:35425719 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1254G>A (p.Glu418=) single nucleotide variant Fanconi anemia complementation group E [RCV003121395] Chr6:35459698 [GRCh38]
Chr6:35427475 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1113+215del deletion not provided [RCV001565863] Chr6:35458640 [GRCh38]
Chr6:35426417 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1221C>T (p.Leu407=) single nucleotide variant Fanconi anemia complementation group E [RCV001499156] Chr6:35459438 [GRCh38]
Chr6:35427215 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.903G>C (p.Gly301=) single nucleotide variant Fanconi anemia complementation group E [RCV001416253] Chr6:35457918 [GRCh38]
Chr6:35425695 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1176C>G (p.Ala392=) single nucleotide variant Fanconi anemia complementation group E [RCV001482421] Chr6:35459393 [GRCh38]
Chr6:35427170 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA indel Fanconi anemia complementation group E [RCV001244686] Chr6:35459328..35459332 [GRCh38]
Chr6:35427105..35427109 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr) single nucleotide variant Fanconi anemia complementation group E [RCV001236288] Chr6:35456261 [GRCh38]
Chr6:35424038 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.521G>T (p.Gly174Val) single nucleotide variant Fanconi anemia complementation group E [RCV001208626] Chr6:35456019 [GRCh38]
Chr6:35423796 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser) single nucleotide variant Fanconi anemia complementation group E [RCV001051593] Chr6:35459454 [GRCh38]
Chr6:35427231 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter) single nucleotide variant Fanconi anemia complementation group E [RCV001237507] Chr6:35457982 [GRCh38]
Chr6:35425759 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro) single nucleotide variant Fanconi anemia [RCV002256699]|Fanconi anemia complementation group E [RCV001209525] Chr6:35452769 [GRCh38]
Chr6:35420546 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.387A>T (p.Pro129=) single nucleotide variant Fanconi anemia complementation group E [RCV001157663] Chr6:35455885 [GRCh38]
Chr6:35423662 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.*213T>A single nucleotide variant Fanconi anemia complementation group E [RCV001157776] Chr6:35466558 [GRCh38]
Chr6:35434335 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.199C>A (p.Leu67Met) single nucleotide variant Fanconi anemia complementation group E [RCV003769371]|not provided [RCV000998589] Chr6:35452744 [GRCh38]
Chr6:35420521 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys) single nucleotide variant FANCE-related condition [RCV003896090]|Fanconi anemia [RCV002255796]|Fanconi anemia complementation group E [RCV002481062]|Inborn genetic diseases [RCV003094195] Chr6:35456154 [GRCh38]
Chr6:35423931 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.524dup (p.Arg176fs) duplication Fanconi anemia complementation group E [RCV001536074] Chr6:35456016..35456017 [GRCh38]
Chr6:35423793..35423794 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.1317-11C>T single nucleotide variant Fanconi anemia [RCV002256691]|Fanconi anemia complementation group E [RCV001156079] Chr6:35460541 [GRCh38]
Chr6:35428318 [GRCh37]
Chr6:6p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp) single nucleotide variant Fanconi anemia complementation group E [RCV001157664] Chr6:35456006 [GRCh38]
Chr6:35423783 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.*63C>T single nucleotide variant Fanconi anemia complementation group E [RCV001157775] Chr6:35466408 [GRCh38]
Chr6:35434185 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.248+58A>C single nucleotide variant not provided [RCV001194797] Chr6:35452851 [GRCh38]
Chr6:35420628 [GRCh37]
Chr6:6p21.31		 benign|uncertain significance
NM_021922.3(FANCE):c.551C>A (p.Pro184Gln) single nucleotide variant Fanconi anemia complementation group E [RCV001194801] Chr6:35456049 [GRCh38]
Chr6:35423826 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1094G>A (p.Arg365Lys) single nucleotide variant Fanconi anemia complementation group E [RCV001194811] Chr6:35458421 [GRCh38]
Chr6:35426198 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe) single nucleotide variant Fanconi anemia complementation group E [RCV001153478] Chr6:35459347 [GRCh38]
Chr6:35427124 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1463C>G (p.Ala488Gly) single nucleotide variant not provided [RCV001194813] Chr6:35462868 [GRCh38]
Chr6:35430645 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1113+6T>C single nucleotide variant Fanconi anemia complementation group E [RCV001153477] Chr6:35458446 [GRCh38]
Chr6:35426223 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1263T>C (p.Cys421=) single nucleotide variant Fanconi anemia complementation group E [RCV001153479] Chr6:35459707 [GRCh38]
Chr6:35427484 [GRCh37]
Chr6:6p21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.937C>T (p.Leu313=) single nucleotide variant Fanconi anemia complementation group E [RCV001152193] Chr6:35457952 [GRCh38]
Chr6:35425729 [GRCh37]
Chr6:6p21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile) single nucleotide variant Fanconi anemia complementation group E [RCV001048583]|Inborn genetic diseases [RCV002552646]|not specified [RCV001819762] Chr6:35460584 [GRCh38]
Chr6:35428361 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_021922.3(FANCE):c.988C>G (p.Gln330Glu) single nucleotide variant Fanconi anemia complementation group E [RCV001217466] Chr6:35458315 [GRCh38]
Chr6:35426092 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe) single nucleotide variant Fanconi anemia complementation group E [RCV001216310] Chr6:35456220 [GRCh38]
Chr6:35423997 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.502T>C (p.Cys168Arg) single nucleotide variant Fanconi anemia complementation group E [RCV001237211] Chr6:35456000 [GRCh38]
Chr6:35423777 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1356G>C (p.Leu452Phe) single nucleotide variant Fanconi anemia complementation group E [RCV001057297] Chr6:35460591 [GRCh38]
Chr6:35428368 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1363del (p.Gln455fs) deletion Fanconi anemia complementation group E [RCV001236898] Chr6:35460598 [GRCh38]
Chr6:35428375 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.248+111C>T single nucleotide variant not provided [RCV001194798] Chr6:35452904 [GRCh38]
Chr6:35420681 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.856-70G>A single nucleotide variant not provided [RCV001194804] Chr6:35457486 [GRCh38]
Chr6:35425263 [GRCh37]
Chr6:6p21.31		 benign|uncertain significance
NM_021922.3(FANCE):c.970-84T>C single nucleotide variant not provided [RCV001194807] Chr6:35458213 [GRCh38]
Chr6:35425990 [GRCh37]
Chr6:6p21.31		 benign|uncertain significance
NM_021922.3(FANCE):c.1510-1G>A single nucleotide variant Fanconi anemia complementation group E [RCV001194814] Chr6:35466243 [GRCh38]
Chr6:35434020 [GRCh37]
Chr6:6p21.31		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter) single nucleotide variant Fanconi anemia complementation group E [RCV001194795] Chr6:35452636 [GRCh38]
Chr6:35420413 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.248+1G>A single nucleotide variant Fanconi anemia complementation group E [RCV001194796]|not provided [RCV003163493] Chr6:35452794 [GRCh38]
Chr6:35420571 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.436del (p.Val146fs) deletion Fanconi anemia complementation group E [RCV001194800] Chr6:35455930 [GRCh38]
Chr6:35423707 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.1262G>A (p.Cys421Tyr) single nucleotide variant Fanconi anemia complementation group E [RCV001040266] Chr6:35459706 [GRCh38]
Chr6:35427483 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-32A>T single nucleotide variant Fanconi anemia complementation group E [RCV001153350] Chr6:35452514 [GRCh38]
Chr6:35420291 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) single nucleotide variant Fanconi anemia [RCV002256675]|Fanconi anemia complementation group E [RCV001064064]|Inborn genetic diseases [RCV002554460] Chr6:35452598 [GRCh38]
Chr6:35420375 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.449T>C (p.Met150Thr) single nucleotide variant Fanconi anemia complementation group E [RCV001040547]|Inborn genetic diseases [RCV003259045] Chr6:35455947 [GRCh38]
Chr6:35423724 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp) single nucleotide variant Fanconi anemia complementation group E [RCV001155962] Chr6:35452666 [GRCh38]
Chr6:35420443 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.743C>T (p.Ala248Val) single nucleotide variant Fanconi anemia complementation group E [RCV001038769] Chr6:35456241 [GRCh38]
Chr6:35424018 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-126T>A single nucleotide variant Fanconi anemia complementation group E [RCV001153349] Chr6:35452420 [GRCh38]
Chr6:35420197 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.*225T>C single nucleotide variant Fanconi anemia complementation group E [RCV001157777] Chr6:35466570 [GRCh38]
Chr6:35434347 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu) single nucleotide variant Fanconi anemia complementation group E [RCV001231827] Chr6:35455938 [GRCh38]
Chr6:35423715 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.953A>G (p.Glu318Gly) single nucleotide variant Microcephaly [RCV001252751] Chr6:35457968 [GRCh38]
Chr6:35425745 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1509+1G>A single nucleotide variant Fanconi anemia complementation group E [RCV001255878] Chr6:35462915 [GRCh38]
Chr6:35430692 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu) single nucleotide variant Fanconi anemia complementation group E [RCV001304496]|Inborn genetic diseases [RCV002543105]|not provided [RCV003426034] Chr6:35457944 [GRCh38]
Chr6:35425721 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp) single nucleotide variant Fanconi anemia complementation group E [RCV001341222] Chr6:35459449 [GRCh38]
Chr6:35427226 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1383+3G>A single nucleotide variant Fanconi anemia complementation group E [RCV001327841] Chr6:35460621 [GRCh38]
Chr6:35428398 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.95C>A (p.Ala32Glu) single nucleotide variant Fanconi anemia complementation group E [RCV001317421] Chr6:35452640 [GRCh38]
Chr6:35420417 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.991C>G (p.Leu331Val) single nucleotide variant Fanconi anemia complementation group E [RCV001315630] Chr6:35458318 [GRCh38]
Chr6:35426095 [GRCh37]
Chr6:6p21.31		 uncertain significance
NC_000006.11:g.(?_35430556)_(35434122_?)del deletion Fanconi anemia complementation group E [RCV001374277] Chr6:35430556..35434122 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) single nucleotide variant Fanconi anemia [RCV003120585]|Fanconi anemia complementation group E [RCV001370136] Chr6:35452547 [GRCh38]
Chr6:35420324 [GRCh37]
Chr6:6p21.31		 likely pathogenic|uncertain significance
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro) single nucleotide variant Fanconi anemia complementation group E [RCV001302696] Chr6:35452745 [GRCh38]
Chr6:35420522 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg) single nucleotide variant Fanconi anemia complementation group E [RCV001294036]|Inborn genetic diseases [RCV002543023] Chr6:35457975 [GRCh38]
Chr6:35425752 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln) single nucleotide variant Fanconi anemia complementation group E [RCV001332416] Chr6:35455764 [GRCh38]
Chr6:35423541 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.330G>A (p.Pro110=) single nucleotide variant Fanconi anemia complementation group E [RCV001337606] Chr6:35455828 [GRCh38]
Chr6:35423605 [GRCh37]
Chr6:6p21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_021922.3(FANCE):c.248T>C (p.Leu83Pro) single nucleotide variant Fanconi anemia complementation group E [RCV001323920] Chr6:35452793 [GRCh38]
Chr6:35420570 [GRCh37]
Chr6:6p21.31		 uncertain significance
NC_000006.11:g.(?_35387904)_(35480635_?)dup duplication not provided [RCV001364928] Chr6:35387904..35480635 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?) deletion Fanconi anemia complementation group E [RCV001350942] Chr6:35466342..35466343 [GRCh38]
Chr6:35434119..35434120 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr) single nucleotide variant FANCE-related condition [RCV003416201]|Fanconi anemia complementation group E [RCV001318867] Chr6:35466290 [GRCh38]
Chr6:35434067 [GRCh37]
Chr6:6p21.31		 uncertain significance
GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497) copy number loss Severe intrauterine growth retardation [RCV001291973] Chr6:34401304..38435497 [GRCh37]
Chr6:6p21.31-21.2		 pathogenic
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro) single nucleotide variant Fanconi anemia complementation group E [RCV001338996] Chr6:35459337 [GRCh38]
Chr6:35427114 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp) single nucleotide variant Fanconi anemia [RCV002255642]|Fanconi anemia complementation group E [RCV001302300]|not provided [RCV003238340] Chr6:35456159 [GRCh38]
Chr6:35423936 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu) single nucleotide variant Fanconi anemia complementation group E [RCV001313207] Chr6:35455775 [GRCh38]
Chr6:35423552 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu) single nucleotide variant Fanconi anemia [RCV002256725]|Fanconi anemia complementation group E [RCV002491867]|Hereditary breast ovarian cancer syndrome [RCV001374563] Chr6:35455827 [GRCh38]
Chr6:35423604 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.685C>T (p.His229Tyr) single nucleotide variant Fanconi anemia complementation group E [RCV001348403] Chr6:35456183 [GRCh38]
Chr6:35423960 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile) single nucleotide variant Fanconi anemia complementation group E [RCV001336028] Chr6:35462799 [GRCh38]
Chr6:35430576 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.34dup (p.Glu12fs) duplication Fanconi anemia, complementation group E [RCV001336029] Chr6:35452578..35452579 [GRCh38]
Chr6:35420355..35420356 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.821T>C (p.Leu274Pro) single nucleotide variant Fanconi anemia complementation group E [RCV001340215] Chr6:35456319 [GRCh38]
Chr6:35424096 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.149T>C (p.Leu50Pro) single nucleotide variant Fanconi anemia complementation group E [RCV001318753]|Inborn genetic diseases [RCV002543757] Chr6:35452694 [GRCh38]
Chr6:35420471 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.71C>A (p.Ala24Asp) single nucleotide variant Fanconi anemia complementation group E [RCV001341091] Chr6:35452616 [GRCh38]
Chr6:35420393 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg) single nucleotide variant Fanconi anemia complementation group E [RCV001310043] Chr6:35466341 [GRCh38]
Chr6:35434118 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.744A>G (p.Ala248=) single nucleotide variant Fanconi anemia complementation group E [RCV001395714] Chr6:35456242 [GRCh38]
Chr6:35424019 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.401G>A (p.Arg134His) single nucleotide variant Fanconi anemia complementation group E [RCV001327576] Chr6:35455899 [GRCh38]
Chr6:35423676 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.938T>C (p.Leu313Pro) single nucleotide variant Fanconi anemia complementation group E [RCV001326614] Chr6:35457953 [GRCh38]
Chr6:35425730 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.448A>G (p.Met150Val) single nucleotide variant Fanconi anemia complementation group E [RCV001337494] Chr6:35455946 [GRCh38]
Chr6:35423723 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1486G>A (p.Val496Met) single nucleotide variant Fanconi anemia complementation group E [RCV001370222] Chr6:35462891 [GRCh38]
Chr6:35430668 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln) single nucleotide variant Fanconi anemia complementation group E [RCV001370412] Chr6:35455773 [GRCh38]
Chr6:35423550 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.15C>T (p.Asp5=) single nucleotide variant Fanconi anemia complementation group E [RCV001495673] Chr6:35452560 [GRCh38]
Chr6:35420337 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1062T>C (p.Asp354=) single nucleotide variant FANCE-related condition [RCV003965819]|Fanconi anemia [RCV002256774]|Fanconi anemia complementation group E [RCV001430868]|not provided [RCV003433161] Chr6:35458389 [GRCh38]
Chr6:35426166 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.903G>A (p.Gly301=) single nucleotide variant Fanconi anemia complementation group E [RCV001459488] Chr6:35457918 [GRCh38]
Chr6:35425695 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.540C>T (p.Ser180=) single nucleotide variant Fanconi anemia complementation group E [RCV001497061] Chr6:35456038 [GRCh38]
Chr6:35423815 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.248+1del deletion Fanconi anemia complementation group E [RCV001377608] Chr6:35452794 [GRCh38]
Chr6:35420571 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.993G>A (p.Leu331=) single nucleotide variant Fanconi anemia complementation group E [RCV001424659] Chr6:35458320 [GRCh38]
Chr6:35426097 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.951C>T (p.His317=) single nucleotide variant FANCE-related condition [RCV003900481]|Fanconi anemia complementation group E [RCV001430435] Chr6:35457966 [GRCh38]
Chr6:35425743 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1200C>T (p.Ser400=) single nucleotide variant Fanconi anemia complementation group E [RCV001410317] Chr6:35459417 [GRCh38]
Chr6:35427194 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.480C>T (p.Cys160=) single nucleotide variant Fanconi anemia complementation group E [RCV001410342] Chr6:35455978 [GRCh38]
Chr6:35423755 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1221C>G (p.Leu407=) single nucleotide variant Fanconi anemia complementation group E [RCV001444667] Chr6:35459438 [GRCh38]
Chr6:35427215 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1096del (p.Ser366fs) deletion Fanconi anemia complementation group E [RCV001383881] Chr6:35458422 [GRCh38]
Chr6:35426199 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.324G>A (p.Ser108=) single nucleotide variant Fanconi anemia complementation group E [RCV001426907] Chr6:35455822 [GRCh38]
Chr6:35423599 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs) deletion Fanconi anemia complementation group E [RCV001390298] Chr6:35459356..35459359 [GRCh38]
Chr6:35427133..35427136 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) single nucleotide variant Fanconi anemia complementation group E [RCV001387796] Chr6:35455763 [GRCh38]
Chr6:35423540 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.1581G>A (p.Leu527=) single nucleotide variant Fanconi anemia complementation group E [RCV001448312] Chr6:35466315 [GRCh38]
Chr6:35434092 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1383+232G>C single nucleotide variant not provided [RCV001690804] Chr6:35460850 [GRCh38]
Chr6:35428627 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.491T>C (p.Leu164Pro) single nucleotide variant Fanconi anemia [RCV001615377] Chr6:35455989 [GRCh38]
Chr6:35423766 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1238-10C>T single nucleotide variant Fanconi anemia complementation group E [RCV001502286] Chr6:35459672 [GRCh38]
Chr6:35427449 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.901-7T>C single nucleotide variant Fanconi anemia complementation group E [RCV001480086] Chr6:35457909 [GRCh38]
Chr6:35425686 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1510-336A>G single nucleotide variant not provided [RCV001587116] Chr6:35465908 [GRCh38]
Chr6:35433685 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.430T>C (p.Leu144=) single nucleotide variant Fanconi anemia complementation group E [RCV001460790] Chr6:35455928 [GRCh38]
Chr6:35423705 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.84C>T (p.Leu28=) single nucleotide variant Fanconi anemia complementation group E [RCV001471475] Chr6:35452629 [GRCh38]
Chr6:35420406 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1238-66C>T single nucleotide variant not provided [RCV001592435] Chr6:35459616 [GRCh38]
Chr6:35427393 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1086G>C (p.Val362=) single nucleotide variant Fanconi anemia complementation group E [RCV001452580] Chr6:35458413 [GRCh38]
Chr6:35426190 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1238-13G>C single nucleotide variant Fanconi anemia complementation group E [RCV001436280] Chr6:35459669 [GRCh38]
Chr6:35427446 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.927C>G (p.Pro309=) single nucleotide variant Fanconi anemia complementation group E [RCV001400105] Chr6:35457942 [GRCh38]
Chr6:35425719 [GRCh37]
Chr6:6p21.31		 likely benign
NC_000006.11:g.(?_35423579)_35424285del deletion Fanconi anemia complementation group E [RCV001378732]   likely pathogenic
NM_021922.3(FANCE):c.1113+1G>A single nucleotide variant Fanconi anemia complementation group E [RCV001377491] Chr6:35458441 [GRCh38]
Chr6:35426218 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1113+215dup duplication not provided [RCV001528089] Chr6:35458639..35458640 [GRCh38]
Chr6:35426416..35426417 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.138G>A (p.Val46=) single nucleotide variant Fanconi anemia complementation group E [RCV001437513] Chr6:35452683 [GRCh38]
Chr6:35420460 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.969+7C>T single nucleotide variant Fanconi anemia complementation group E [RCV003116010] Chr6:35457991 [GRCh38]
Chr6:35425768 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.693G>A (p.Lys231=) single nucleotide variant Fanconi anemia [RCV002256982]|Fanconi anemia complementation group E [RCV003120857] Chr6:35456191 [GRCh38]
Chr6:35423968 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1274A>G (p.Lys425Arg) single nucleotide variant Inborn genetic diseases [RCV003272974] Chr6:35459718 [GRCh38]
Chr6:35427495 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1238-1G>C single nucleotide variant Fanconi anemia complementation group E [RCV001781087] Chr6:35459681 [GRCh38]
Chr6:35427458 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.12G>A (p.Pro4=) single nucleotide variant Fanconi anemia [RCV002256981] Chr6:35452557 [GRCh38]
Chr6:35420334 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe) single nucleotide variant Fanconi anemia complementation group E [RCV001868557]|Inborn genetic diseases [RCV002539157]|not provided [RCV001761481] Chr6:35458396 [GRCh38]
Chr6:35426173 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln) single nucleotide variant Fanconi anemia complementation group E [RCV001788984] Chr6:35456160 [GRCh38]
Chr6:35423937 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.104C>T (p.Ala35Val) single nucleotide variant FANCE-related condition [RCV003968555]|Fanconi anemia complementation group E [RCV001788983] Chr6:35452649 [GRCh38]
Chr6:35420426 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_021922.3(FANCE):c.145G>C (p.Ala49Pro) single nucleotide variant Fanconi anemia complementation group E [RCV002488598]|Ovarian cancer [RCV003154191]|not provided [RCV001771521] Chr6:35452690 [GRCh38]
Chr6:35420467 [GRCh37]
Chr6:6p21.31		 benign|uncertain significance
NM_021922.3(FANCE):c.972G>A (p.Met324Ile) single nucleotide variant not provided [RCV003237648] Chr6:35458299 [GRCh38]
Chr6:35426076 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.965G>A (p.Ser322Asn) single nucleotide variant not provided [RCV003237649] Chr6:35457980 [GRCh38]
Chr6:35425757 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.8C>T (p.Thr3Ile) single nucleotide variant Fanconi anemia complementation group E [RCV001771639]|not provided [RCV003237650] Chr6:35452553 [GRCh38]
Chr6:35420330 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.740G>A (p.Ser247Asn) single nucleotide variant Fanconi anemia complementation group E [RCV001771640]|not provided [RCV003237651] Chr6:35456238 [GRCh38]
Chr6:35424015 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp) single nucleotide variant Fanconi anemia complementation group E [RCV001771641]|not provided [RCV003237652] Chr6:35456022 [GRCh38]
Chr6:35423799 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.313G>A (p.Val105Ile) single nucleotide variant Fanconi anemia [RCV002258310]|Fanconi anemia complementation group E [RCV001771642]|not provided [RCV003237653] Chr6:35455811 [GRCh38]
Chr6:35423588 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1275G>C (p.Lys425Asn) single nucleotide variant not provided [RCV003237654] Chr6:35459719 [GRCh38]
Chr6:35427496 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys) single nucleotide variant Fanconi anemia complementation group E [RCV001772538]|Inborn genetic diseases [RCV002540319]|not provided [RCV001760961] Chr6:35457569 [GRCh38]
Chr6:35425346 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.334del (p.Ser112fs) deletion Fanconi anemia complementation group E [RCV001783262] Chr6:35455830 [GRCh38]
Chr6:35423607 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.-3G>C single nucleotide variant not specified [RCV001817275] Chr6:35452543 [GRCh38]
Chr6:35420320 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter) single nucleotide variant Fanconi anemia complementation group E [RCV003509701]|not provided [RCV001818009] Chr6:35452709 [GRCh38]
Chr6:35420486 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.1446A>T (p.Ala482=) single nucleotide variant not specified [RCV001817197] Chr6:35462851 [GRCh38]
Chr6:35430628 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.373C>G (p.Leu125Val) single nucleotide variant not specified [RCV001822590] Chr6:35455871 [GRCh38]
Chr6:35423648 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.396G>T (p.Trp132Cys) single nucleotide variant Fanconi anemia complementation group E [RCV002489882]|not specified [RCV001822444] Chr6:35455894 [GRCh38]
Chr6:35423671 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys) single nucleotide variant Fanconi anemia complementation group E [RCV002482371]|not specified [RCV001822751] Chr6:35457967 [GRCh38]
Chr6:35425744 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1237+1G>A single nucleotide variant Fanconi anemia complementation group E [RCV003461468] Chr6:35459455 [GRCh38]
Chr6:35427232 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1317-1G>A single nucleotide variant Fanconi anemia complementation group E [RCV003461469] Chr6:35460551 [GRCh38]
Chr6:35428328 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.505del (p.Arg169fs) deletion Fanconi anemia complementation group E [RCV003461473] Chr6:35456003 [GRCh38]
Chr6:35423780 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1238-2A>C single nucleotide variant Fanconi anemia complementation group E [RCV003461475] Chr6:35459680 [GRCh38]
Chr6:35427457 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs) microsatellite Fanconi anemia complementation group E [RCV003461478] Chr6:35459695..35459696 [GRCh38]
Chr6:35427472..35427473 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.463C>T (p.Pro155Ser) single nucleotide variant Fanconi anemia complementation group E [RCV001950207] Chr6:35455961 [GRCh38]
Chr6:35423738 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg) single nucleotide variant Fanconi anemia complementation group E [RCV001872979] Chr6:35457575 [GRCh38]
Chr6:35425352 [GRCh37]
Chr6:6p21.31		 uncertain significance
NC_000006.11:g.(?_35420323)_(35434122_?)dup duplication Fanconi anemia complementation group E [RCV001967874] Chr6:35420323..35434122 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His) indel Fanconi anemia complementation group E [RCV001971759] Chr6:35455885..35455886 [GRCh38]
Chr6:35423662..35423663 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1031T>A (p.Leu344His) single nucleotide variant Fanconi anemia complementation group E [RCV001983632] Chr6:35458358 [GRCh38]
Chr6:35426135 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.313G>C (p.Val105Leu) single nucleotide variant Fanconi anemia complementation group E [RCV002044951] Chr6:35455811 [GRCh38]
Chr6:35423588 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.928C>T (p.Pro310Ser) single nucleotide variant Fanconi anemia complementation group E [RCV002006608]|not provided [RCV003319504] Chr6:35457943 [GRCh38]
Chr6:35425720 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.677A>C (p.Glu226Ala) single nucleotide variant Fanconi anemia complementation group E [RCV002008376] Chr6:35456175 [GRCh38]
Chr6:35423952 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) single nucleotide variant Fanconi anemia [RCV002258315]|Fanconi anemia complementation group E [RCV002044939] Chr6:35466328 [GRCh38]
Chr6:35434105 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.189G>T (p.Leu63Phe) single nucleotide variant Fanconi anemia complementation group E [RCV002008240] Chr6:35452734 [GRCh38]
Chr6:35420511 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro) single nucleotide variant Fanconi anemia complementation group E [RCV001911702] Chr6:35459362 [GRCh38]
Chr6:35427139 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr) single nucleotide variant Fanconi anemia complementation group E [RCV001967868] Chr6:35459413 [GRCh38]
Chr6:35427190 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.169C>A (p.Pro57Thr) single nucleotide variant Fanconi anemia complementation group E [RCV001983900] Chr6:35452714 [GRCh38]
Chr6:35420491 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.487C>A (p.Gln163Lys) single nucleotide variant Fanconi anemia complementation group E [RCV002005737] Chr6:35455985 [GRCh38]
Chr6:35423762 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu) single nucleotide variant Fanconi anemia complementation group E [RCV001946093] Chr6:35456150 [GRCh38]
Chr6:35423927 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg) single nucleotide variant Fanconi anemia complementation group E [RCV001947485] Chr6:35456151 [GRCh38]
Chr6:35423928 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.956G>A (p.Cys319Tyr) single nucleotide variant Fanconi anemia complementation group E [RCV002004922] Chr6:35457971 [GRCh38]
Chr6:35425748 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.181G>C (p.Gly61Arg) single nucleotide variant Fanconi anemia complementation group E [RCV001895315] Chr6:35452726 [GRCh38]
Chr6:35420503 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu) single nucleotide variant Fanconi anemia complementation group E [RCV002021306] Chr6:35456088 [GRCh38]
Chr6:35423865 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1497G>C (p.Lys499Asn) single nucleotide variant Fanconi anemia complementation group E [RCV001911620] Chr6:35462902 [GRCh38]
Chr6:35430679 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del) deletion Fanconi anemia complementation group E [RCV001908176] Chr6:35452543..35452557 [GRCh38]
Chr6:35420320..35420334 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.338G>C (p.Gly113Ala) single nucleotide variant Fanconi anemia complementation group E [RCV001969966] Chr6:35455836 [GRCh38]
Chr6:35423613 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1036A>C (p.Thr346Pro) single nucleotide variant Fanconi anemia complementation group E [RCV001908284] Chr6:35458363 [GRCh38]
Chr6:35426140 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg) single nucleotide variant Fanconi anemia complementation group E [RCV001911325] Chr6:35456018 [GRCh38]
Chr6:35423795 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.239G>A (p.Arg80His) single nucleotide variant Fanconi anemia complementation group E [RCV002003130] Chr6:35452784 [GRCh38]
Chr6:35420561 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1501C>G (p.Gln501Glu) single nucleotide variant Fanconi anemia complementation group E [RCV001926889] Chr6:35462906 [GRCh38]
Chr6:35430683 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu) single nucleotide variant Fanconi anemia complementation group E [RCV001970398] Chr6:35466307 [GRCh38]
Chr6:35434084 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.535A>C (p.Lys179Gln) single nucleotide variant Fanconi anemia complementation group E [RCV002003251] Chr6:35456033 [GRCh38]
Chr6:35423810 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.136G>T (p.Val46Leu) single nucleotide variant Fanconi anemia complementation group E [RCV001913174] Chr6:35452681 [GRCh38]
Chr6:35420458 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.818G>T (p.Gly273Val) single nucleotide variant Fanconi anemia complementation group E [RCV002042619] Chr6:35456316 [GRCh38]
Chr6:35424093 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln) single nucleotide variant Fanconi anemia [RCV002256846]|not specified [RCV001844716] Chr6:35452631 [GRCh38]
Chr6:35420408 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.266G>C (p.Arg89Pro) single nucleotide variant Fanconi anemia complementation group E [RCV002042367] Chr6:35455764 [GRCh38]
Chr6:35423541 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1343A>C (p.Glu448Ala) single nucleotide variant Fanconi anemia complementation group E [RCV001883799] Chr6:35460578 [GRCh38]
Chr6:35428355 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.128G>A (p.Gly43Asp) single nucleotide variant Fanconi anemia complementation group E [RCV002000468] Chr6:35452673 [GRCh38]
Chr6:35420450 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.461C>T (p.Ser154Phe) single nucleotide variant Fanconi anemia complementation group E [RCV002031550] Chr6:35455959 [GRCh38]
Chr6:35423736 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1478T>C (p.Met493Thr) single nucleotide variant Fanconi anemia complementation group E [RCV001956577] Chr6:35462883 [GRCh38]
Chr6:35430660 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.328C>T (p.Pro110Ser) single nucleotide variant Fanconi anemia complementation group E [RCV001938336] Chr6:35455826 [GRCh38]
Chr6:35423603 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1270G>T (p.Val424Leu) single nucleotide variant Fanconi anemia complementation group E [RCV001884969] Chr6:35459714 [GRCh38]
Chr6:35427491 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln) single nucleotide variant Fanconi anemia complementation group E [RCV001920230] Chr6:35457922 [GRCh38]
Chr6:35425699 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1276A>G (p.Met426Val) single nucleotide variant Fanconi anemia [RCV002256848]|Fanconi anemia complementation group E [RCV002051356] Chr6:35459720 [GRCh38]
Chr6:35427497 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.59C>T (p.Ala20Val) single nucleotide variant Fanconi anemia complementation group E [RCV001897755] Chr6:35452604 [GRCh38]
Chr6:35420381 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1142G>A (p.Arg381His) single nucleotide variant Fanconi anemia complementation group E [RCV001870275] Chr6:35459359 [GRCh38]
Chr6:35427136 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1034G>A (p.Cys345Tyr) single nucleotide variant Fanconi anemia complementation group E [RCV002048056] Chr6:35458361 [GRCh38]
Chr6:35426138 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.463C>G (p.Pro155Ala) single nucleotide variant Fanconi anemia complementation group E [RCV001922358] Chr6:35455961 [GRCh38]
Chr6:35423738 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1136C>G (p.Ala379Gly) single nucleotide variant Fanconi anemia complementation group E [RCV001954169] Chr6:35459353 [GRCh38]
Chr6:35427130 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.997C>T (p.Leu333Phe) single nucleotide variant Fanconi anemia complementation group E [RCV001993614] Chr6:35458324 [GRCh38]
Chr6:35426101 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.691_693del (p.Lys231del) deletion Fanconi anemia complementation group E [RCV002010482] Chr6:35456187..35456189 [GRCh38]
Chr6:35423964..35423966 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.786C>T (p.Gly262=) single nucleotide variant Fanconi anemia complementation group E [RCV001991432] Chr6:35456284 [GRCh38]
Chr6:35424061 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg) single nucleotide variant Fanconi anemia complementation group E [RCV002015226] Chr6:35459757 [GRCh38]
Chr6:35427534 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.959G>A (p.Ser320Asn) single nucleotide variant Fanconi anemia complementation group E [RCV001898602] Chr6:35457974 [GRCh38]
Chr6:35425751 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG indel Fanconi anemia complementation group E [RCV002026515] Chr6:35455802..35456508 [GRCh38]
Chr6:35423579..35424285 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) duplication Fanconi anemia complementation group E [RCV001951367] Chr6:35459682..35459683 [GRCh38]
Chr6:35427459..35427460 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp) single nucleotide variant Fanconi anemia complementation group E [RCV001898956] Chr6:35456031 [GRCh38]
Chr6:35423808 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.128G>T (p.Gly43Val) single nucleotide variant Fanconi anemia complementation group E [RCV001958470] Chr6:35452673 [GRCh38]
Chr6:35420450 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1517A>G (p.Glu506Gly) single nucleotide variant Fanconi anemia complementation group E [RCV002049287] Chr6:35466251 [GRCh38]
Chr6:35434028 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1260_1268del (p.Cys421_Leu423del) deletion Fanconi anemia complementation group E [RCV001974158] Chr6:35459702..35459710 [GRCh38]
Chr6:35427479..35427487 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1489A>G (p.Met497Val) single nucleotide variant Fanconi anemia complementation group E [RCV001925334] Chr6:35462894 [GRCh38]
Chr6:35430671 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1189C>G (p.Pro397Ala) single nucleotide variant Fanconi anemia complementation group E [RCV001922900] Chr6:35459406 [GRCh38]
Chr6:35427183 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr) single nucleotide variant Fanconi anemia complementation group E [RCV001959423]|not provided [RCV002224127] Chr6:35452690 [GRCh38]
Chr6:35420467 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.742G>A (p.Ala248Thr) single nucleotide variant Fanconi anemia complementation group E [RCV001901370]|Inborn genetic diseases [RCV002557563]|Ovarian cancer [RCV003154216] Chr6:35456240 [GRCh38]
Chr6:35424017 [GRCh37]
Chr6:6p21.31		 benign|uncertain significance
NM_021922.3(FANCE):c.1484C>T (p.Thr495Ile) single nucleotide variant Fanconi anemia complementation group E [RCV001997463] Chr6:35462889 [GRCh38]
Chr6:35430666 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu) single nucleotide variant Fanconi anemia complementation group E [RCV001982184] Chr6:35462837 [GRCh38]
Chr6:35430614 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1379G>T (p.Arg460Leu) single nucleotide variant Fanconi anemia complementation group E [RCV001980738] Chr6:35460614 [GRCh38]
Chr6:35428391 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.855+6T>G single nucleotide variant Fanconi anemia complementation group E [RCV001924826] Chr6:35456359 [GRCh38]
Chr6:35424136 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1507A>T (p.Asn503Tyr) single nucleotide variant Fanconi anemia complementation group E [RCV001931273] Chr6:35462912 [GRCh38]
Chr6:35430689 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr) single nucleotide variant Fanconi anemia complementation group E [RCV001998383] Chr6:35452570 [GRCh38]
Chr6:35420347 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.229C>T (p.Pro77Ser) single nucleotide variant Fanconi anemia complementation group E [RCV001921575] Chr6:35452774 [GRCh38]
Chr6:35420551 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.926C>T (p.Pro309Leu) single nucleotide variant Fanconi anemia complementation group E [RCV001897437] Chr6:35457941 [GRCh38]
Chr6:35425718 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser) single nucleotide variant Fanconi anemia complementation group E [RCV001933339] Chr6:35458310 [GRCh38]
Chr6:35426087 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe) single nucleotide variant FANCE-related condition [RCV003401933]|Fanconi anemia complementation group E [RCV001958096] Chr6:35459421 [GRCh38]
Chr6:35427198 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1383+6C>G single nucleotide variant Fanconi anemia complementation group E [RCV001880660] Chr6:35460624 [GRCh38]
Chr6:35428401 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1501C>T (p.Gln501Ter) single nucleotide variant Fanconi anemia complementation group E [RCV001976214] Chr6:35462906 [GRCh38]
Chr6:35430683 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1316+20T>C single nucleotide variant Fanconi anemia complementation group E [RCV002186307] Chr6:35459780 [GRCh38]
Chr6:35427557 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.798G>T (p.Ser266=) single nucleotide variant Fanconi anemia complementation group E [RCV002147278] Chr6:35456296 [GRCh38]
Chr6:35424073 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1353C>T (p.Phe451=) single nucleotide variant Fanconi anemia complementation group E [RCV002207758] Chr6:35460588 [GRCh38]
Chr6:35428365 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) single nucleotide variant Fanconi anemia complementation group E [RCV002075324] Chr6:35458419 [GRCh38]
Chr6:35426196 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.222G>T (p.Val74=) single nucleotide variant Fanconi anemia complementation group E [RCV002126316] Chr6:35452767 [GRCh38]
Chr6:35420544 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.399C>T (p.Leu133=) single nucleotide variant Fanconi anemia complementation group E [RCV002106045] Chr6:35455897 [GRCh38]
Chr6:35423674 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1383+15C>G single nucleotide variant Fanconi anemia complementation group E [RCV002109369] Chr6:35460633 [GRCh38]
Chr6:35428410 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.621G>A (p.Glu207=) single nucleotide variant Fanconi anemia complementation group E [RCV002210219] Chr6:35456119 [GRCh38]
Chr6:35423896 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-15G>A single nucleotide variant Fanconi anemia complementation group E [RCV002091362] Chr6:35458282 [GRCh38]
Chr6:35426059 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1114-16T>G single nucleotide variant Fanconi anemia complementation group E [RCV002085243] Chr6:35459315 [GRCh38]
Chr6:35427092 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1510-12C>G single nucleotide variant Fanconi anemia complementation group E [RCV002110000] Chr6:35466232 [GRCh38]
Chr6:35434009 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.327G>C (p.Leu109=) single nucleotide variant Fanconi anemia complementation group E [RCV002152847] Chr6:35455825 [GRCh38]
Chr6:35423602 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1164C>T (p.Thr388=) single nucleotide variant Fanconi anemia complementation group E [RCV002113764] Chr6:35459381 [GRCh38]
Chr6:35427158 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.501A>G (p.Leu167=) single nucleotide variant Fanconi anemia complementation group E [RCV002209318] Chr6:35455999 [GRCh38]
Chr6:35423776 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.981G>A (p.Leu327=) single nucleotide variant Fanconi anemia complementation group E [RCV002095706] Chr6:35458308 [GRCh38]
Chr6:35426085 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.981G>T (p.Leu327=) single nucleotide variant Fanconi anemia complementation group E [RCV002130923] Chr6:35458308 [GRCh38]
Chr6:35426085 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.405C>T (p.Ala135=) single nucleotide variant Fanconi anemia complementation group E [RCV002211701] Chr6:35455903 [GRCh38]
Chr6:35423680 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1237+8T>A single nucleotide variant Fanconi anemia complementation group E [RCV002196305] Chr6:35459462 [GRCh38]
Chr6:35427239 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-16C>T single nucleotide variant Fanconi anemia complementation group E [RCV002117264] Chr6:35458281 [GRCh38]
Chr6:35426058 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.495A>G (p.Gln165=) single nucleotide variant Fanconi anemia complementation group E [RCV002197481] Chr6:35455993 [GRCh38]
Chr6:35423770 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.499C>T (p.Leu167=) single nucleotide variant Fanconi anemia complementation group E [RCV002173925] Chr6:35455997 [GRCh38]
Chr6:35423774 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1384-10A>T single nucleotide variant Fanconi anemia complementation group E [RCV002075395] Chr6:35462779 [GRCh38]
Chr6:35430556 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1384-14C>T single nucleotide variant Fanconi anemia complementation group E [RCV002095900] Chr6:35462775 [GRCh38]
Chr6:35430552 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1509+19T>C single nucleotide variant Fanconi anemia complementation group E [RCV002115096] Chr6:35462933 [GRCh38]
Chr6:35430710 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.759C>T (p.Asp253=) single nucleotide variant Fanconi anemia complementation group E [RCV002087946] Chr6:35456257 [GRCh38]
Chr6:35424034 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-18C>G single nucleotide variant Fanconi anemia complementation group E [RCV002114080] Chr6:35458279 [GRCh38]
Chr6:35426056 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.222G>C (p.Val74=) single nucleotide variant Fanconi anemia complementation group E [RCV002173722] Chr6:35452767 [GRCh38]
Chr6:35420544 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.312C>T (p.Ala104=) single nucleotide variant Fanconi anemia complementation group E [RCV002131038] Chr6:35455810 [GRCh38]
Chr6:35423587 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly) single nucleotide variant Fanconi anemia complementation group E [RCV002132277] Chr6:35460613 [GRCh38]
Chr6:35428390 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.18G>T (p.Ala6=) single nucleotide variant Fanconi anemia complementation group E [RCV002094260] Chr6:35452563 [GRCh38]
Chr6:35420340 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-16C>G single nucleotide variant Fanconi anemia complementation group E [RCV002113681] Chr6:35458281 [GRCh38]
Chr6:35426058 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.901-20C>T single nucleotide variant Fanconi anemia complementation group E [RCV002213005] Chr6:35457896 [GRCh38]
Chr6:35425673 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.856-5C>T single nucleotide variant Fanconi anemia complementation group E [RCV002171550] Chr6:35457551 [GRCh38]
Chr6:35425328 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1608C>G (p.Pro536=) single nucleotide variant FANCE-related condition [RCV003923427]|Fanconi anemia complementation group E [RCV002097144] Chr6:35466342 [GRCh38]
Chr6:35434119 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-20C>G single nucleotide variant Fanconi anemia complementation group E [RCV002138240] Chr6:35458277 [GRCh38]
Chr6:35426054 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1509+17C>A single nucleotide variant Fanconi anemia complementation group E [RCV002219508] Chr6:35462931 [GRCh38]
Chr6:35430708 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1440G>T (p.Gly480=) single nucleotide variant Fanconi anemia complementation group E [RCV002121732] Chr6:35462845 [GRCh38]
Chr6:35430622 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1237+20C>G single nucleotide variant Fanconi anemia complementation group E [RCV002121904] Chr6:35459474 [GRCh38]
Chr6:35427251 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1384-5T>C single nucleotide variant Fanconi anemia complementation group E [RCV002217163] Chr6:35462784 [GRCh38]
Chr6:35430561 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.897G>A (p.Glu299=) single nucleotide variant Fanconi anemia complementation group E [RCV002118216] Chr6:35457597 [GRCh38]
Chr6:35425374 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-17C>A single nucleotide variant Fanconi anemia complementation group E [RCV002120316] Chr6:35458280 [GRCh38]
Chr6:35426057 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1525A>C (p.Arg509=) single nucleotide variant Fanconi anemia complementation group E [RCV002198762] Chr6:35466259 [GRCh38]
Chr6:35434036 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.861G>A (p.Gln287=) single nucleotide variant Fanconi anemia complementation group E [RCV002157917] Chr6:35457561 [GRCh38]
Chr6:35425338 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-18C>A single nucleotide variant Fanconi anemia complementation group E [RCV002177901] Chr6:35458279 [GRCh38]
Chr6:35426056 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1316+18C>T single nucleotide variant Fanconi anemia complementation group E [RCV002157171] Chr6:35459778 [GRCh38]
Chr6:35427555 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1512C>A (p.Ile504=) single nucleotide variant Fanconi anemia complementation group E [RCV002204203] Chr6:35466246 [GRCh38]
Chr6:35434023 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1383+20dup duplication Fanconi anemia complementation group E [RCV002136732] Chr6:35460634..35460635 [GRCh38]
Chr6:35428411..35428412 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.856-11C>G single nucleotide variant Fanconi anemia complementation group E [RCV002178958] Chr6:35457545 [GRCh38]
Chr6:35425322 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1395C>T (p.Thr465=) single nucleotide variant Fanconi anemia complementation group E [RCV002123177] Chr6:35462800 [GRCh38]
Chr6:35430577 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.969+16T>G single nucleotide variant Fanconi anemia complementation group E [RCV002104148] Chr6:35458000 [GRCh38]
Chr6:35425777 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1023C>T (p.Leu341=) single nucleotide variant Fanconi anemia complementation group E [RCV002098540] Chr6:35458350 [GRCh38]
Chr6:35426127 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1509+16G>T single nucleotide variant Fanconi anemia complementation group E [RCV002177814] Chr6:35462930 [GRCh38]
Chr6:35430707 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1509+7A>G single nucleotide variant Fanconi anemia complementation group E [RCV002219481] Chr6:35462921 [GRCh38]
Chr6:35430698 [GRCh37]
Chr6:6p21.31		 likely benign
NC_000006.11:g.(?_35420323)_(35424150_?)dup duplication Fanconi anemia complementation group E [RCV003109839] Chr6:35420323..35424150 [GRCh37]
Chr6:6p21.31		 uncertain significance
NC_000006.11:g.(?_35428309)_(35434122_?)dup duplication Fanconi anemia complementation group E [RCV003109840] Chr6:35428309..35434122 [GRCh37]
Chr6:6p21.31		 uncertain significance
NC_000006.11:g.(?_35423579)_(35424285_?)del deletion Fanconi anemia complementation group E [RCV003109841] Chr6:35423579..35424285 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NC_000006.11:g.(?_30695893)_(36953949_?)dup duplication Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2		 uncertain significance
NM_021922.3(FANCE):c.1017C>T (p.Leu339=) single nucleotide variant Fanconi anemia [RCV002256980]|Fanconi anemia complementation group E [RCV003619758] Chr6:35458344 [GRCh38]
Chr6:35426121 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.901-5C>A single nucleotide variant Fanconi anemia [RCV002258414] Chr6:35457911 [GRCh38]
Chr6:35425688 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del) deletion Fanconi anemia [RCV002266522] Chr6:35452546..35452551 [GRCh38]
Chr6:35420323..35420328 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp) single nucleotide variant Fanconi anemia complementation group E [RCV002298172] Chr6:35459698 [GRCh38]
Chr6:35427475 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.71_72insGGG (p.Ala24_Pro25insGly) insertion not specified [RCV002266521] Chr6:35452616..35452617 [GRCh38]
Chr6:35420393..35420394 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.983G>T (p.Cys328Phe) single nucleotide variant Fanconi anemia complementation group E [RCV002297354] Chr6:35458310 [GRCh38]
Chr6:35426087 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1531G>T (p.Gly511Cys) single nucleotide variant Fanconi anemia complementation group E [RCV002302405] Chr6:35466265 [GRCh38]
Chr6:35434042 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.36G>T (p.Glu12Asp) single nucleotide variant Fanconi anemia complementation group E [RCV003099128]|not provided [RCV002308877] Chr6:35452581 [GRCh38]
Chr6:35420358 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.618A>G (p.Glu206=) single nucleotide variant Fanconi anemia complementation group E [RCV002751443] Chr6:35456116 [GRCh38]
Chr6:35423893 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.832T>C (p.Leu278=) single nucleotide variant Fanconi anemia complementation group E [RCV002858588] Chr6:35456330 [GRCh38]
Chr6:35424107 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1518G>A (p.Glu506=) single nucleotide variant Fanconi anemia complementation group E [RCV002881147] Chr6:35466252 [GRCh38]
Chr6:35434029 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1049C>A (p.Ala350Asp) single nucleotide variant Fanconi anemia complementation group E [RCV002970745] Chr6:35458376 [GRCh38]
Chr6:35426153 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1383+17G>A single nucleotide variant Fanconi anemia complementation group E [RCV003073972] Chr6:35460635 [GRCh38]
Chr6:35428412 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1476C>T (p.Leu492=) single nucleotide variant Fanconi anemia complementation group E [RCV002775783] Chr6:35462881 [GRCh38]
Chr6:35430658 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys) single nucleotide variant Fanconi anemia complementation group E [RCV002780151] Chr6:35456117 [GRCh38]
Chr6:35423894 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.985G>A (p.Ala329Thr) single nucleotide variant Fanconi anemia complementation group E [RCV002775021] Chr6:35458312 [GRCh38]
Chr6:35426089 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.257T>C (p.Leu86Pro) single nucleotide variant Fanconi anemia complementation group E [RCV003098999] Chr6:35455755 [GRCh38]
Chr6:35423532 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.430T>G (p.Leu144Val) single nucleotide variant Inborn genetic diseases [RCV002884156] Chr6:35455928 [GRCh38]
Chr6:35423705 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.928C>G (p.Pro310Ala) single nucleotide variant Fanconi anemia complementation group E [RCV003077122] Chr6:35457943 [GRCh38]
Chr6:35425720 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.720A>G (p.Glu240=) single nucleotide variant Fanconi anemia complementation group E [RCV002994151] Chr6:35456218 [GRCh38]
Chr6:35423995 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu) single nucleotide variant Fanconi anemia complementation group E [RCV002970706] Chr6:35460592 [GRCh38]
Chr6:35428369 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1317-9G>A single nucleotide variant Fanconi anemia complementation group E [RCV002881844] Chr6:35460543 [GRCh38]
Chr6:35428320 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.22C>T (p.Leu8Phe) single nucleotide variant Fanconi anemia complementation group E [RCV002908376] Chr6:35452567 [GRCh38]
Chr6:35420344 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly) single nucleotide variant Fanconi anemia complementation group E [RCV002907734]|not provided [RCV002895277] Chr6:35459412 [GRCh38]
Chr6:35427189 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.726G>A (p.Leu242=) single nucleotide variant Fanconi anemia complementation group E [RCV002819659] Chr6:35456224 [GRCh38]
Chr6:35424001 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.930A>G (p.Pro310=) single nucleotide variant Fanconi anemia complementation group E [RCV003021738] Chr6:35457945 [GRCh38]
Chr6:35425722 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.663G>T (p.Arg221=) single nucleotide variant Fanconi anemia complementation group E [RCV002952761] Chr6:35456161 [GRCh38]
Chr6:35423938 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.157C>T (p.Arg53Cys) single nucleotide variant Fanconi anemia complementation group E [RCV002571125] Chr6:35452702 [GRCh38]
Chr6:35420479 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.363C>G (p.Ala121=) single nucleotide variant Fanconi anemia complementation group E [RCV003079417] Chr6:35455861 [GRCh38]
Chr6:35423638 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly) single nucleotide variant Fanconi anemia complementation group E [RCV003100611] Chr6:35455911 [GRCh38]
Chr6:35423688 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1260G>T (p.Leu420=) single nucleotide variant Fanconi anemia complementation group E [RCV003077374] Chr6:35459704 [GRCh38]
Chr6:35427481 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.855+18C>G single nucleotide variant Fanconi anemia complementation group E [RCV002979415] Chr6:35456371 [GRCh38]
Chr6:35424148 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.248+11G>C single nucleotide variant Fanconi anemia complementation group E [RCV002780669] Chr6:35452804 [GRCh38]
Chr6:35420581 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.707A>G (p.His236Arg) single nucleotide variant Inborn genetic diseases [RCV002759406] Chr6:35456205 [GRCh38]
Chr6:35423982 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1114-3T>C single nucleotide variant Fanconi anemia complementation group E [RCV002886294] Chr6:35459328 [GRCh38]
Chr6:35427105 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1488G>A (p.Val496=) single nucleotide variant Fanconi anemia complementation group E [RCV002639779] Chr6:35462893 [GRCh38]
Chr6:35430670 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.139C>T (p.Leu47Phe) single nucleotide variant Fanconi anemia complementation group E [RCV002620440] Chr6:35452684 [GRCh38]
Chr6:35420461 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.318G>A (p.Arg106=) single nucleotide variant Fanconi anemia complementation group E [RCV002592283] Chr6:35455816 [GRCh38]
Chr6:35423593 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser) single nucleotide variant Fanconi anemia complementation group E [RCV003002611] Chr6:35458345 [GRCh38]
Chr6:35426122 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.256C>G (p.Leu86Val) single nucleotide variant Fanconi anemia complementation group E [RCV003020906] Chr6:35455754 [GRCh38]
Chr6:35423531 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1598A>T (p.His533Leu) single nucleotide variant Fanconi anemia complementation group E [RCV002756798] Chr6:35466332 [GRCh38]
Chr6:35434109 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.325C>T (p.Leu109=) single nucleotide variant Fanconi anemia complementation group E [RCV002766739] Chr6:35455823 [GRCh38]
Chr6:35423600 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.249G>T (p.Leu83=) single nucleotide variant Fanconi anemia complementation group E [RCV002597393] Chr6:35455747 [GRCh38]
Chr6:35423524 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.702C>T (p.Pro234=) single nucleotide variant Fanconi anemia complementation group E [RCV002895007] Chr6:35456200 [GRCh38]
Chr6:35423977 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1390A>G (p.Met464Val) single nucleotide variant Fanconi anemia complementation group E [RCV002805415] Chr6:35462795 [GRCh38]
Chr6:35430572 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu) single nucleotide variant Fanconi anemia complementation group E [RCV002711703] Chr6:35460588 [GRCh38]
Chr6:35428365 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1428C>T (p.Leu476=) single nucleotide variant Fanconi anemia complementation group E [RCV002890320] Chr6:35462833 [GRCh38]
Chr6:35430610 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1594A>T (p.Lys532Ter) single nucleotide variant Fanconi anemia complementation group E [RCV002891227] Chr6:35466328 [GRCh38]
Chr6:35434105 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp) single nucleotide variant Fanconi anemia complementation group E [RCV002765951] Chr6:35456287 [GRCh38]
Chr6:35424064 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1528C>G (p.Leu510Val) single nucleotide variant Fanconi anemia complementation group E [RCV003084096] Chr6:35466262 [GRCh38]
Chr6:35434039 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.74C>T (p.Pro25Leu) single nucleotide variant Fanconi anemia complementation group E [RCV002574664] Chr6:35452619 [GRCh38]
Chr6:35420396 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter) single nucleotide variant Fanconi anemia complementation group E [RCV003025051] Chr6:35455894 [GRCh38]
Chr6:35423671 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg) single nucleotide variant Fanconi anemia complementation group E [RCV002711811] Chr6:35457578 [GRCh38]
Chr6:35425355 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.541C>T (p.Pro181Ser) single nucleotide variant Fanconi anemia complementation group E [RCV002828406] Chr6:35456039 [GRCh38]
Chr6:35423816 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.134G>T (p.Gly45Val) single nucleotide variant Fanconi anemia complementation group E [RCV002932100] Chr6:35452679 [GRCh38]
Chr6:35420456 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1510-15T>C single nucleotide variant Fanconi anemia complementation group E [RCV002786579] Chr6:35466229 [GRCh38]
Chr6:35434006 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-12C>T single nucleotide variant Fanconi anemia complementation group E [RCV002966095] Chr6:35458285 [GRCh38]
Chr6:35426062 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.756G>A (p.Lys252=) single nucleotide variant Fanconi anemia complementation group E [RCV002602189] Chr6:35456254 [GRCh38]
Chr6:35424031 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.105G>A (p.Ala35=) single nucleotide variant Fanconi anemia complementation group E [RCV002602890] Chr6:35452650 [GRCh38]
Chr6:35420427 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.698G>A (p.Arg233Lys) single nucleotide variant Fanconi anemia complementation group E [RCV002967252] Chr6:35456196 [GRCh38]
Chr6:35423973 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1383+12G>T single nucleotide variant Fanconi anemia complementation group E [RCV003090153] Chr6:35460630 [GRCh38]
Chr6:35428407 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.751A>G (p.Ile251Val) single nucleotide variant Fanconi anemia complementation group E [RCV002633000] Chr6:35456249 [GRCh38]
Chr6:35424026 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.539C>G (p.Ser180Cys) single nucleotide variant Fanconi anemia complementation group E [RCV002856392] Chr6:35456037 [GRCh38]
Chr6:35423814 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.969+11A>T single nucleotide variant Fanconi anemia complementation group E [RCV002922380] Chr6:35457995 [GRCh38]
Chr6:35425772 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr) single nucleotide variant Fanconi anemia complementation group E [RCV002671281] Chr6:35459741 [GRCh38]
Chr6:35427518 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1131C>A (p.Ser377=) single nucleotide variant Fanconi anemia complementation group E [RCV002770927] Chr6:35459348 [GRCh38]
Chr6:35427125 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly) single nucleotide variant Fanconi anemia complementation group E [RCV002647872] Chr6:35455869 [GRCh38]
Chr6:35423646 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.856-11C>T single nucleotide variant Fanconi anemia complementation group E [RCV003009232] Chr6:35457545 [GRCh38]
Chr6:35425322 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg) single nucleotide variant Fanconi anemia complementation group E [RCV002578260] Chr6:35460554 [GRCh38]
Chr6:35428331 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1294G>A (p.Asp432Asn) single nucleotide variant Inborn genetic diseases [RCV002879006] Chr6:35459738 [GRCh38]
Chr6:35427515 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.422G>A (p.Arg141Gln) single nucleotide variant Fanconi anemia complementation group E [RCV003777649]|Inborn genetic diseases [RCV002702410] Chr6:35455920 [GRCh38]
Chr6:35423697 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_021922.3(FANCE):c.1051C>G (p.Leu351Val) single nucleotide variant Fanconi anemia complementation group E [RCV002580524] Chr6:35458378 [GRCh38]
Chr6:35426155 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro) indel Fanconi anemia complementation group E [RCV003088014] Chr6:35452560..35452561 [GRCh38]
Chr6:35420337..35420338 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.5C>T (p.Ala2Val) single nucleotide variant Fanconi anemia complementation group E [RCV002895287] Chr6:35452550 [GRCh38]
Chr6:35420327 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu) single nucleotide variant Fanconi anemia complementation group E [RCV002580841] Chr6:35456295 [GRCh38]
Chr6:35424072 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1509+13A>G single nucleotide variant Fanconi anemia complementation group E [RCV002579162] Chr6:35462927 [GRCh38]
Chr6:35430704 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser) single nucleotide variant Fanconi anemia complementation group E [RCV003087629] Chr6:35458403 [GRCh38]
Chr6:35426180 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1114-17del deletion Fanconi anemia complementation group E [RCV002806005] Chr6:35459313 [GRCh38]
Chr6:35427090 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.11C>T (p.Pro4Leu) single nucleotide variant Inborn genetic diseases [RCV002713970] Chr6:35452556 [GRCh38]
Chr6:35420333 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.25C>T (p.Pro9Ser) single nucleotide variant Fanconi anemia complementation group E [RCV002715604] Chr6:35452570 [GRCh38]
Chr6:35420347 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.373C>T (p.Leu125=) single nucleotide variant Fanconi anemia complementation group E [RCV003046785] Chr6:35455871 [GRCh38]
Chr6:35423648 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1141C>G (p.Arg381Gly) single nucleotide variant Fanconi anemia complementation group E [RCV002647010] Chr6:35459358 [GRCh38]
Chr6:35427135 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.992T>C (p.Leu331Pro) single nucleotide variant Fanconi anemia complementation group E [RCV002942203] Chr6:35458319 [GRCh38]
Chr6:35426096 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1068C>T (p.Ser356=) single nucleotide variant Fanconi anemia complementation group E [RCV002583697] Chr6:35458395 [GRCh38]
Chr6:35426172 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1321A>C (p.Ile441Leu) single nucleotide variant Inborn genetic diseases [RCV002652668] Chr6:35460556 [GRCh38]
Chr6:35428333 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.248+14C>A single nucleotide variant Fanconi anemia complementation group E [RCV002607416] Chr6:35452807 [GRCh38]
Chr6:35420584 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.248+13C>T single nucleotide variant Fanconi anemia complementation group E [RCV002586734] Chr6:35452806 [GRCh38]
Chr6:35420583 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-8G>A single nucleotide variant Fanconi anemia complementation group E [RCV002608519] Chr6:35458289 [GRCh38]
Chr6:35426066 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1258C>T (p.Leu420=) single nucleotide variant Fanconi anemia complementation group E [RCV003072982] Chr6:35459702 [GRCh38]
Chr6:35427479 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys) single nucleotide variant Fanconi anemia complementation group E [RCV003071207] Chr6:35456201 [GRCh38]
Chr6:35423978 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.221T>C (p.Val74Ala) single nucleotide variant Fanconi anemia complementation group E [RCV003071459] Chr6:35452766 [GRCh38]
Chr6:35420543 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.54C>T (p.Pro18=) single nucleotide variant Fanconi anemia complementation group E [RCV003069604] Chr6:35452599 [GRCh38]
Chr6:35420376 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1519A>G (p.Thr507Ala) single nucleotide variant Fanconi anemia complementation group E [RCV002589053] Chr6:35466253 [GRCh38]
Chr6:35434030 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala) single nucleotide variant Fanconi anemia complementation group E [RCV002721369] Chr6:35455877 [GRCh38]
Chr6:35423654 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.447C>G (p.Ser149=) single nucleotide variant Fanconi anemia complementation group E [RCV002612453] Chr6:35455945 [GRCh38]
Chr6:35423722 [GRCh37]
Chr6:6p21.31		 likely benign
NC_000006.11:g.(?_32148920)_(36953949_?)dup duplication not provided [RCV003154914] Chr6:32148920..36953949 [GRCh37]
Chr6:6p21.32-21.2		 uncertain significance
NM_021922.3(FANCE):c.161G>A (p.Gly54Asp) single nucleotide variant Ovarian cancer [RCV003154700] Chr6:35452706 [GRCh38]
Chr6:35420483 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys) single nucleotide variant Fanconi anemia complementation group E [RCV003147176] Chr6:35455789 [GRCh38]
Chr6:35423566 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.637G>C (p.Gly213Arg) single nucleotide variant not provided [RCV003154175] Chr6:35456135 [GRCh38]
Chr6:35423912 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.339del (p.Leu114fs) deletion Fanconi anemia [RCV003331879]|Fanconi anemia complementation group E [RCV003509810] Chr6:35455835 [GRCh38]
Chr6:35423612 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.635del (p.Glu212fs) deletion Fanconi anemia complementation group E [RCV003468145] Chr6:35456133 [GRCh38]
Chr6:35423910 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1113+2T>A single nucleotide variant Fanconi anemia complementation group E [RCV003461471] Chr6:35458442 [GRCh38]
Chr6:35426219 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.24_33del (p.Pro9fs) deletion Fanconi anemia complementation group E [RCV003461479] Chr6:35452563..35452572 [GRCh38]
Chr6:35420340..35420349 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs) deletion Fanconi anemia complementation group E [RCV003461476] Chr6:35462841..35462842 [GRCh38]
Chr6:35430618..35430619 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.969+1G>A single nucleotide variant Fanconi anemia complementation group E [RCV003468142] Chr6:35457985 [GRCh38]
Chr6:35425762 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.39C>T (p.Gly13=) single nucleotide variant Fanconi anemia complementation group E [RCV003873200] Chr6:35452584 [GRCh38]
Chr6:35420361 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1494C>T (p.Thr498=) single nucleotide variant Fanconi anemia complementation group E [RCV003873184] Chr6:35462899 [GRCh38]
Chr6:35430676 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs) microsatellite Fanconi anemia complementation group E [RCV003468148] Chr6:35452661..35452662 [GRCh38]
Chr6:35420438..35420439 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.134G>A (p.Gly45Glu) single nucleotide variant Fanconi anemia complementation group E [RCV003874064] Chr6:35452679 [GRCh38]
Chr6:35420456 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.787G>A (p.Glu263Lys) single nucleotide variant Fanconi anemia complementation group E [RCV003486076] Chr6:35456285 [GRCh38]
Chr6:35424062 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.465A>G (p.Pro155=) single nucleotide variant Fanconi anemia complementation group E [RCV003874073] Chr6:35455963 [GRCh38]
Chr6:35423740 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1383+2T>C single nucleotide variant Fanconi anemia complementation group E [RCV003461470] Chr6:35460620 [GRCh38]
Chr6:35428397 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter) single nucleotide variant Fanconi anemia complementation group E [RCV003468144] Chr6:35459439 [GRCh38]
Chr6:35427216 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.153C>T (p.Gly51=) single nucleotide variant Fanconi anemia complementation group E [RCV003880202] Chr6:35452698 [GRCh38]
Chr6:35420475 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.118del (p.Ala40fs) deletion Fanconi anemia complementation group E [RCV003461474] Chr6:35452659 [GRCh38]
Chr6:35420436 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.117_136del (p.Arg41fs) deletion Fanconi anemia complementation group E [RCV003461481] Chr6:35452659..35452678 [GRCh38]
Chr6:35420436..35420455 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter) single nucleotide variant Fanconi anemia complementation group E [RCV003468141] Chr6:35452645 [GRCh38]
Chr6:35420422 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.538del (p.Ser180fs) deletion Fanconi anemia complementation group E [RCV003461467] Chr6:35456036 [GRCh38]
Chr6:35423813 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.836del (p.Glu279fs) deletion Fanconi anemia complementation group E [RCV003461472] Chr6:35456334 [GRCh38]
Chr6:35424111 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.350_351del (p.Val117fs) microsatellite Fanconi anemia complementation group E [RCV003468143] Chr6:35455846..35455847 [GRCh38]
Chr6:35423623..35423624 [GRCh37]
Chr6:6p21.31		 pathogenic|likely pathogenic
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs) indel Fanconi anemia complementation group E [RCV003468146] Chr6:35457580 [GRCh38]
Chr6:35425357 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.248+1G>T single nucleotide variant Fanconi anemia complementation group E [RCV003468147] Chr6:35452794 [GRCh38]
Chr6:35420571 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.57G>A (p.Trp19Ter) single nucleotide variant FANCE-related condition [RCV003391451] Chr6:35452602 [GRCh38]
Chr6:35420379 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_021922.3(FANCE):c.1512C>T (p.Ile504=) single nucleotide variant Fanconi anemia complementation group E [RCV003509351] Chr6:35466246 [GRCh38]
Chr6:35434023 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs) duplication Fanconi anemia complementation group E [RCV003509931] Chr6:35456266..35456267 [GRCh38]
Chr6:35424043..35424044 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.1182T>C (p.Tyr394=) single nucleotide variant Fanconi anemia complementation group E [RCV003510574] Chr6:35459399 [GRCh38]
Chr6:35427176 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1383+16T>C single nucleotide variant Fanconi anemia complementation group E [RCV003510941] Chr6:35460634 [GRCh38]
Chr6:35428411 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1452C>G (p.Thr484=) single nucleotide variant Fanconi anemia complementation group E [RCV003510959] Chr6:35462857 [GRCh38]
Chr6:35430634 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.636G>A (p.Glu212=) single nucleotide variant Fanconi anemia complementation group E [RCV003510994] Chr6:35456134 [GRCh38]
Chr6:35423911 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1383+13C>T single nucleotide variant Fanconi anemia complementation group E [RCV003511075] Chr6:35460631 [GRCh38]
Chr6:35428408 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1608C>T (p.Pro536=) single nucleotide variant Fanconi anemia complementation group E [RCV003511305] Chr6:35466342 [GRCh38]
Chr6:35434119 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1317-18A>G single nucleotide variant Fanconi anemia complementation group E [RCV003827010] Chr6:35460534 [GRCh38]
Chr6:35428311 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.342C>T (p.Leu114=) single nucleotide variant Fanconi anemia complementation group E [RCV003620186] Chr6:35455840 [GRCh38]
Chr6:35423617 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter) single nucleotide variant Fanconi anemia complementation group E [RCV003620572] Chr6:35458368 [GRCh38]
Chr6:35426145 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.477A>G (p.Arg159=) single nucleotide variant Fanconi anemia complementation group E [RCV003620951] Chr6:35455975 [GRCh38]
Chr6:35423752 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.931dup (p.Val311fs) duplication Fanconi anemia complementation group E [RCV003621062] Chr6:35457945..35457946 [GRCh38]
Chr6:35425722..35425723 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.1113+11T>C single nucleotide variant Fanconi anemia complementation group E [RCV003619998] Chr6:35458451 [GRCh38]
Chr6:35426228 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1515T>C (p.Thr505=) single nucleotide variant Fanconi anemia complementation group E [RCV003621435] Chr6:35466249 [GRCh38]
Chr6:35434026 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.813T>C (p.Ala271=) single nucleotide variant Fanconi anemia complementation group E [RCV003619256] Chr6:35456311 [GRCh38]
Chr6:35424088 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-6A>G single nucleotide variant Fanconi anemia complementation group E [RCV003619517] Chr6:35458291 [GRCh38]
Chr6:35426068 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1371C>T (p.Leu457=) single nucleotide variant Fanconi anemia complementation group E [RCV003619546] Chr6:35460606 [GRCh38]
Chr6:35428383 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.975C>T (p.Asp325=) single nucleotide variant Fanconi anemia complementation group E [RCV003620339] Chr6:35458302 [GRCh38]
Chr6:35426079 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.4_13del (p.Ala2fs) deletion Fanconi anemia complementation group E [RCV003620537] Chr6:35452548..35452557 [GRCh38]
Chr6:35420325..35420334 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn) single nucleotide variant Fanconi anemia complementation group E [RCV003621465] Chr6:35462809 [GRCh38]
Chr6:35430586 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.207G>T (p.Arg69=) single nucleotide variant Fanconi anemia complementation group E [RCV003877386] Chr6:35452752 [GRCh38]
Chr6:35420529 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.702C>G (p.Pro234=) single nucleotide variant Fanconi anemia complementation group E [RCV003509274] Chr6:35456200 [GRCh38]
Chr6:35423977 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.901-15G>C single nucleotide variant Fanconi anemia complementation group E [RCV003509370] Chr6:35457901 [GRCh38]
Chr6:35425678 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.856-20G>T single nucleotide variant Fanconi anemia complementation group E [RCV003509389] Chr6:35457536 [GRCh38]
Chr6:35425313 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.248+11G>A single nucleotide variant Fanconi anemia complementation group E [RCV003509450] Chr6:35452804 [GRCh38]
Chr6:35420581 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.768C>T (p.Val256=) single nucleotide variant Fanconi anemia complementation group E [RCV003827602] Chr6:35456266 [GRCh38]
Chr6:35424043 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1237+14C>T single nucleotide variant Fanconi anemia complementation group E [RCV003510146] Chr6:35459468 [GRCh38]
Chr6:35427245 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1510-13T>A single nucleotide variant Fanconi anemia complementation group E [RCV003510553] Chr6:35466231 [GRCh38]
Chr6:35434008 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1114-11G>T single nucleotide variant Fanconi anemia complementation group E [RCV003510721] Chr6:35459320 [GRCh38]
Chr6:35427097 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1238-13del deletion Fanconi anemia complementation group E [RCV003510780] Chr6:35459669 [GRCh38]
Chr6:35427446 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1155T>C (p.Thr385=) single nucleotide variant Fanconi anemia complementation group E [RCV003510884] Chr6:35459372 [GRCh38]
Chr6:35427149 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1316+13G>A single nucleotide variant Fanconi anemia complementation group E [RCV003511241] Chr6:35459773 [GRCh38]
Chr6:35427550 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1509+14G>C single nucleotide variant Fanconi anemia complementation group E [RCV003619426] Chr6:35462928 [GRCh38]
Chr6:35430705 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-18C>T single nucleotide variant Fanconi anemia complementation group E [RCV003619462] Chr6:35458279 [GRCh38]
Chr6:35426056 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.642G>A (p.Lys214=) single nucleotide variant Fanconi anemia complementation group E [RCV003619515] Chr6:35456140 [GRCh38]
Chr6:35423917 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.807T>C (p.Asp269=) single nucleotide variant Fanconi anemia complementation group E [RCV003619548] Chr6:35456305 [GRCh38]
Chr6:35424082 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.345C>T (p.Leu115=) single nucleotide variant Fanconi anemia complementation group E [RCV003619596] Chr6:35455843 [GRCh38]
Chr6:35423620 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1600T>C (p.Leu534=) single nucleotide variant Fanconi anemia complementation group E [RCV003619605] Chr6:35466334 [GRCh38]
Chr6:35434111 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1113+10T>C single nucleotide variant Fanconi anemia complementation group E [RCV003619632] Chr6:35458450 [GRCh38]
Chr6:35426227 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.216G>A (p.Pro72=) single nucleotide variant Fanconi anemia complementation group E [RCV003620187] Chr6:35452761 [GRCh38]
Chr6:35420538 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter) single nucleotide variant Fanconi anemia complementation group E [RCV003620212] Chr6:35458330 [GRCh38]
Chr6:35426107 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.1139C>T (p.Ser380Phe) single nucleotide variant Fanconi anemia complementation group E [RCV003620219] Chr6:35459356 [GRCh38]
Chr6:35427133 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.552A>G (p.Pro184=) single nucleotide variant Fanconi anemia complementation group E [RCV003620464] Chr6:35456050 [GRCh38]
Chr6:35423827 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1044G>A (p.Leu348=) single nucleotide variant Fanconi anemia complementation group E [RCV003620495] Chr6:35458371 [GRCh38]
Chr6:35426148 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.600C>T (p.Arg200=) single nucleotide variant Fanconi anemia complementation group E [RCV003620632] Chr6:35456098 [GRCh38]
Chr6:35423875 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs) deletion Fanconi anemia complementation group E [RCV003620714] Chr6:35459690..35459693 [GRCh38]
Chr6:35427467..35427470 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.435G>C (p.Gly145=) single nucleotide variant Fanconi anemia complementation group E [RCV003620817] Chr6:35455933 [GRCh38]
Chr6:35423710 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.969+20T>A single nucleotide variant Fanconi anemia complementation group E [RCV003620940] Chr6:35458004 [GRCh38]
Chr6:35425781 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1509+14G>A single nucleotide variant Fanconi anemia complementation group E [RCV003621041] Chr6:35462928 [GRCh38]
Chr6:35430705 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.162C>T (p.Gly54=) single nucleotide variant Fanconi anemia complementation group E [RCV003621090] Chr6:35452707 [GRCh38]
Chr6:35420484 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.855+4C>G single nucleotide variant Fanconi anemia complementation group E [RCV003621146] Chr6:35456357 [GRCh38]
Chr6:35424134 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1510-10T>G single nucleotide variant Fanconi anemia complementation group E [RCV003621174] Chr6:35466234 [GRCh38]
Chr6:35434011 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.970-9T>G single nucleotide variant Fanconi anemia complementation group E [RCV003620165] Chr6:35458288 [GRCh38]
Chr6:35426065 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del) deletion Fanconi anemia complementation group E [RCV003621185] Chr6:35452620..35452643 [GRCh38]
Chr6:35420397..35420420 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.892T>A (p.Leu298Met) single nucleotide variant Fanconi anemia complementation group E [RCV003621262] Chr6:35457592 [GRCh38]
Chr6:35425369 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.519G>C (p.Leu173=) single nucleotide variant Fanconi anemia complementation group E [RCV003621344] Chr6:35456017 [GRCh38]
Chr6:35423794 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.856-18C>T single nucleotide variant Fanconi anemia complementation group E [RCV003621348] Chr6:35457538 [GRCh38]
Chr6:35425315 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.112G>T (p.Glu38Ter) single nucleotide variant Fanconi anemia complementation group E [RCV003621413] Chr6:35452657 [GRCh38]
Chr6:35420434 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.1379G>A (p.Arg460Gln) single nucleotide variant Fanconi anemia complementation group E [RCV003621436] Chr6:35460614 [GRCh38]
Chr6:35428391 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1284C>G (p.Ser428=) single nucleotide variant Fanconi anemia complementation group E [RCV003621438] Chr6:35459728 [GRCh38]
Chr6:35427505 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.96G>T (p.Ala32=) single nucleotide variant Fanconi anemia complementation group E [RCV003825044] Chr6:35452641 [GRCh38]
Chr6:35420418 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.901-10G>A single nucleotide variant Fanconi anemia complementation group E [RCV003509212] Chr6:35457906 [GRCh38]
Chr6:35425683 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.855+9G>A single nucleotide variant Fanconi anemia complementation group E [RCV003509860] Chr6:35456362 [GRCh38]
Chr6:35424139 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1317-7T>C single nucleotide variant Fanconi anemia complementation group E [RCV003510291] Chr6:35460545 [GRCh38]
Chr6:35428322 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.723C>T (p.Ser241=) single nucleotide variant Fanconi anemia complementation group E [RCV003510636] Chr6:35456221 [GRCh38]
Chr6:35423998 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.519G>T (p.Leu173=) single nucleotide variant Fanconi anemia complementation group E [RCV003511038] Chr6:35456017 [GRCh38]
Chr6:35423794 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1029G>A (p.Arg343=) single nucleotide variant Fanconi anemia complementation group E [RCV003511221] Chr6:35458356 [GRCh38]
Chr6:35426133 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.415T>C (p.Leu139=) single nucleotide variant Fanconi anemia complementation group E [RCV003511275] Chr6:35455913 [GRCh38]
Chr6:35423690 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.398T>C (p.Leu133Pro) single nucleotide variant Fanconi anemia complementation group E [RCV003511314] Chr6:35455896 [GRCh38]
Chr6:35423673 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.901-5C>T single nucleotide variant Fanconi anemia complementation group E [RCV003511381] Chr6:35457911 [GRCh38]
Chr6:35425688 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.969+9A>C single nucleotide variant Fanconi anemia complementation group E [RCV003510521] Chr6:35457993 [GRCh38]
Chr6:35425770 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.273C>T (p.Pro91=) single nucleotide variant Fanconi anemia complementation group E [RCV003510862] Chr6:35455771 [GRCh38]
Chr6:35423548 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.976T>C (p.Leu326=) single nucleotide variant Fanconi anemia complementation group E [RCV003511096] Chr6:35458303 [GRCh38]
Chr6:35426080 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.855+8G>A single nucleotide variant Fanconi anemia complementation group E [RCV003511198] Chr6:35456361 [GRCh38]
Chr6:35424138 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1354T>C (p.Leu452=) single nucleotide variant Fanconi anemia complementation group E [RCV003830357] Chr6:35460589 [GRCh38]
Chr6:35428366 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.777T>G (p.Val259=) single nucleotide variant Fanconi anemia complementation group E [RCV003619471] Chr6:35456275 [GRCh38]
Chr6:35424052 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.627C>G (p.Ala209=) single nucleotide variant Fanconi anemia complementation group E [RCV003619514] Chr6:35456125 [GRCh38]
Chr6:35423902 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1266C>T (p.Cys422=) single nucleotide variant Fanconi anemia complementation group E [RCV003619540] Chr6:35459710 [GRCh38]
Chr6:35427487 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.614_615del (p.Glu205fs) microsatellite Fanconi anemia complementation group E [RCV003619627] Chr6:35456110..35456111 [GRCh38]
Chr6:35423887..35423888 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.465A>T (p.Pro155=) single nucleotide variant Fanconi anemia complementation group E [RCV003620203] Chr6:35455963 [GRCh38]
Chr6:35423740 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1384-19C>T single nucleotide variant Fanconi anemia complementation group E [RCV003620243] Chr6:35462770 [GRCh38]
Chr6:35430547 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1113+15A>T single nucleotide variant Fanconi anemia complementation group E [RCV003620287] Chr6:35458455 [GRCh38]
Chr6:35426232 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.108G>T (p.Gly36=) single nucleotide variant Fanconi anemia complementation group E [RCV003620326] Chr6:35452653 [GRCh38]
Chr6:35420430 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1113+20C>T single nucleotide variant Fanconi anemia complementation group E [RCV003620334] Chr6:35458460 [GRCh38]
Chr6:35426237 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1383+8G>C single nucleotide variant Fanconi anemia complementation group E [RCV003620389] Chr6:35460626 [GRCh38]
Chr6:35428403 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.880C>T (p.Leu294=) single nucleotide variant Fanconi anemia complementation group E [RCV003620469] Chr6:35457580 [GRCh38]
Chr6:35425357 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1374A>G (p.Leu458=) single nucleotide variant Fanconi anemia complementation group E [RCV003620520] Chr6:35460609 [GRCh38]
Chr6:35428386 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1384-16C>A single nucleotide variant Fanconi anemia complementation group E [RCV003620603] Chr6:35462773 [GRCh38]
Chr6:35430550 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1359G>A (p.Val453=) single nucleotide variant Fanconi anemia complementation group E [RCV003621058] Chr6:35460594 [GRCh38]
Chr6:35428371 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.105G>C (p.Ala35=) single nucleotide variant Fanconi anemia complementation group E [RCV003621087] Chr6:35452650 [GRCh38]
Chr6:35420427 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.856-14G>T single nucleotide variant Fanconi anemia complementation group E [RCV003621159] Chr6:35457542 [GRCh38]
Chr6:35425319 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.421C>A (p.Arg141=) single nucleotide variant Fanconi anemia complementation group E [RCV003620179] Chr6:35455919 [GRCh38]
Chr6:35423696 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.838T>C (p.Leu280=) single nucleotide variant Fanconi anemia complementation group E [RCV003620102] Chr6:35456336 [GRCh38]
Chr6:35424113 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1158C>A (p.Ala386=) single nucleotide variant Fanconi anemia complementation group E [RCV003620062] Chr6:35459375 [GRCh38]
Chr6:35427152 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1043T>C (p.Leu348Pro) single nucleotide variant Fanconi anemia complementation group E [RCV003620056] Chr6:35458370 [GRCh38]
Chr6:35426147 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.597A>G (p.Lys199=) single nucleotide variant Fanconi anemia complementation group E [RCV003619859] Chr6:35456095 [GRCh38]
Chr6:35423872 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.856-7T>C single nucleotide variant Fanconi anemia complementation group E [RCV003621210] Chr6:35457549 [GRCh38]
Chr6:35425326 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.531G>A (p.Arg177=) single nucleotide variant Fanconi anemia complementation group E [RCV003621219] Chr6:35456029 [GRCh38]
Chr6:35423806 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1114-17C>T single nucleotide variant Fanconi anemia complementation group E [RCV003621248] Chr6:35459314 [GRCh38]
Chr6:35427091 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1237+20C>T single nucleotide variant Fanconi anemia complementation group E [RCV003621259] Chr6:35459474 [GRCh38]
Chr6:35427251 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1237+7C>T single nucleotide variant Fanconi anemia complementation group E [RCV003621316] Chr6:35459461 [GRCh38]
Chr6:35427238 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.855+17A>T single nucleotide variant Fanconi anemia complementation group E [RCV003621420] Chr6:35456370 [GRCh38]
Chr6:35424147 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.543C>G (p.Pro181=) single nucleotide variant Fanconi anemia complementation group E [RCV003621495] Chr6:35456041 [GRCh38]
Chr6:35423818 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1237+18C>T single nucleotide variant Fanconi anemia complementation group E [RCV003511019] Chr6:35459472 [GRCh38]
Chr6:35427249 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.901-6C>T single nucleotide variant Fanconi anemia complementation group E [RCV003511126] Chr6:35457910 [GRCh38]
Chr6:35425687 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.88CTGCAGGCG[3] (p.Ala35_Gly36insLeuGlnAla) microsatellite Fanconi anemia complementation group E [RCV003511181] Chr6:35452631..35452632 [GRCh38]
Chr6:35420408..35420409 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1176C>T (p.Ala392=) single nucleotide variant Fanconi anemia complementation group E [RCV003509894] Chr6:35459393 [GRCh38]
Chr6:35427170 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1383+17G>C single nucleotide variant Fanconi anemia complementation group E [RCV003510529] Chr6:35460635 [GRCh38]
Chr6:35428412 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1344G>A (p.Glu448=) single nucleotide variant Fanconi anemia complementation group E [RCV003510829] Chr6:35460579 [GRCh38]
Chr6:35428356 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.209del (p.Glu70fs) deletion Fanconi anemia complementation group E [RCV003510855] Chr6:35452754 [GRCh38]
Chr6:35420531 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.1296T>C (p.Asp432=) single nucleotide variant Fanconi anemia complementation group E [RCV003510857] Chr6:35459740 [GRCh38]
Chr6:35427517 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1087C>T (p.Leu363=) single nucleotide variant Fanconi anemia complementation group E [RCV003510931] Chr6:35458414 [GRCh38]
Chr6:35426191 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1283C>G (p.Ser428Cys) single nucleotide variant Fanconi anemia complementation group E [RCV003511360] Chr6:35459727 [GRCh38]
Chr6:35427504 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.456A>C (p.Gly152=) single nucleotide variant Fanconi anemia complementation group E [RCV003509205] Chr6:35455954 [GRCh38]
Chr6:35423731 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1014C>A (p.Asp338Glu) single nucleotide variant Fanconi anemia complementation group E [RCV003509156] Chr6:35458341 [GRCh38]
Chr6:35426118 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.856-6C>T single nucleotide variant Fanconi anemia complementation group E [RCV003510105] Chr6:35457550 [GRCh38]
Chr6:35425327 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.901-3del deletion Fanconi anemia complementation group E [RCV003510117] Chr6:35457910 [GRCh38]
Chr6:35425687 [GRCh37]
Chr6:6p21.31		 benign
NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter) duplication Fanconi anemia complementation group E [RCV003510293] Chr6:35456250..35456251 [GRCh38]
Chr6:35424027..35424028 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.259T>C (p.Leu87=) single nucleotide variant Fanconi anemia complementation group E [RCV003510761] Chr6:35455757 [GRCh38]
Chr6:35423534 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1510-17T>C single nucleotide variant Fanconi anemia complementation group E [RCV003511003] Chr6:35466227 [GRCh38]
Chr6:35434004 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.75C>T (p.Pro25=) single nucleotide variant Fanconi anemia complementation group E [RCV003511165] Chr6:35452620 [GRCh38]
Chr6:35420397 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.711G>A (p.Lys237=) single nucleotide variant Fanconi anemia complementation group E [RCV003511204] Chr6:35456209 [GRCh38]
Chr6:35423986 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.141C>T (p.Leu47=) single nucleotide variant Fanconi anemia complementation group E [RCV003511231] Chr6:35452686 [GRCh38]
Chr6:35420463 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1413C>T (p.Val471=) single nucleotide variant Fanconi anemia complementation group E [RCV003511307] Chr6:35462818 [GRCh38]
Chr6:35430595 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.59C>A (p.Ala20Glu) single nucleotide variant Fanconi anemia complementation group E [RCV003828387] Chr6:35452604 [GRCh38]
Chr6:35420381 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.444C>G (p.Thr148=) single nucleotide variant Fanconi anemia complementation group E [RCV003510124] Chr6:35455942 [GRCh38]
Chr6:35423719 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1372C>G (p.Leu458Val) single nucleotide variant Fanconi anemia complementation group E [RCV003510134] Chr6:35460607 [GRCh38]
Chr6:35428384 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.1455C>T (p.Thr485=) single nucleotide variant Fanconi anemia complementation group E [RCV003510402] Chr6:35462860 [GRCh38]
Chr6:35430637 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.249-18T>C single nucleotide variant Fanconi anemia complementation group E [RCV003510730] Chr6:35455729 [GRCh38]
Chr6:35423506 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1206C>T (p.Leu402=) single nucleotide variant Fanconi anemia complementation group E [RCV003509157] Chr6:35459423 [GRCh38]
Chr6:35427200 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.29G>A (p.Gly10Glu) single nucleotide variant Fanconi anemia complementation group E [RCV003509301] Chr6:35452574 [GRCh38]
Chr6:35420351 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.519G>A (p.Leu173=) single nucleotide variant Fanconi anemia complementation group E [RCV003509115] Chr6:35456017 [GRCh38]
Chr6:35423794 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.304C>T (p.Leu102=) single nucleotide variant Fanconi anemia complementation group E [RCV003839450] Chr6:35455802 [GRCh38]
Chr6:35423579 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.249-11C>A single nucleotide variant Fanconi anemia complementation group E [RCV003837156] Chr6:35455736 [GRCh38]
Chr6:35423513 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.518dup (p.Arg176fs) duplication Fanconi anemia complementation group E [RCV003855377] Chr6:35456015..35456016 [GRCh38]
Chr6:35423792..35423793 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.51G>T (p.Ala17=) single nucleotide variant Fanconi anemia complementation group E [RCV003855661] Chr6:35452596 [GRCh38]
Chr6:35420373 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1398T>C (p.Pro466=) single nucleotide variant Fanconi anemia complementation group E [RCV003834954] Chr6:35462803 [GRCh38]
Chr6:35430580 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1510-6C>T single nucleotide variant Fanconi anemia complementation group E [RCV003854994] Chr6:35466238 [GRCh38]
Chr6:35434015 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1587C>T (p.Ala529=) single nucleotide variant Fanconi anemia complementation group E [RCV003811354] Chr6:35466321 [GRCh38]
Chr6:35434098 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1509+8T>G single nucleotide variant Fanconi anemia complementation group E [RCV003851623] Chr6:35462922 [GRCh38]
Chr6:35430699 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.174C>T (p.Phe58=) single nucleotide variant Fanconi anemia complementation group E [RCV003863147] Chr6:35452719 [GRCh38]
Chr6:35420496 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.351G>A (p.Val117=) single nucleotide variant Fanconi anemia complementation group E [RCV003859119] Chr6:35455849 [GRCh38]
Chr6:35423626 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.525C>T (p.Gly175=) single nucleotide variant Fanconi anemia complementation group E [RCV003853885] Chr6:35456023 [GRCh38]
Chr6:35423800 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1464C>G (p.Ala488=) single nucleotide variant Fanconi anemia complementation group E [RCV003843222] Chr6:35462869 [GRCh38]
Chr6:35430646 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.564A>G (p.Glu188=) single nucleotide variant Fanconi anemia complementation group E [RCV003868753] Chr6:35456062 [GRCh38]
Chr6:35423839 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter) single nucleotide variant Fanconi anemia complementation group E [RCV003861758] Chr6:35460598 [GRCh38]
Chr6:35428375 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.1332G>A (p.Leu444=) single nucleotide variant Fanconi anemia complementation group E [RCV003857269] Chr6:35460567 [GRCh38]
Chr6:35428344 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.159C>G (p.Arg53=) single nucleotide variant Fanconi anemia complementation group E [RCV003871945] Chr6:35452704 [GRCh38]
Chr6:35420481 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter) single nucleotide variant Fanconi anemia complementation group E [RCV003872191] Chr6:35457929 [GRCh38]
Chr6:35425706 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.969+18C>T single nucleotide variant Fanconi anemia complementation group E [RCV003853293] Chr6:35458002 [GRCh38]
Chr6:35425779 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.265C>A (p.Arg89=) single nucleotide variant Fanconi anemia complementation group E [RCV003871581] Chr6:35455763 [GRCh38]
Chr6:35423540 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.192C>G (p.Leu64=) single nucleotide variant Fanconi anemia complementation group E [RCV003848303] Chr6:35452737 [GRCh38]
Chr6:35420514 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.248+19C>T single nucleotide variant Fanconi anemia complementation group E [RCV003863372] Chr6:35452812 [GRCh38]
Chr6:35420589 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs) insertion Fanconi anemia complementation group E [RCV003865806] Chr6:35457579..35457580 [GRCh38]
Chr6:35425356..35425357 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_021922.3(FANCE):c.438G>A (p.Val146=) single nucleotide variant Fanconi anemia complementation group E [RCV003858001] Chr6:35455936 [GRCh38]
Chr6:35423713 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.567G>A (p.Glu189=) single nucleotide variant Fanconi anemia complementation group E [RCV003866292] Chr6:35456065 [GRCh38]
Chr6:35423842 [GRCh37]
Chr6:6p21.31		 likely benign
NM_021922.3(FANCE):c.823G>A (p.Ala275Thr) single nucleotide variant Fanconi anemia complementation group E [RCV003820307] Chr6:35456321 [GRCh38]
Chr6:35424098 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_021922.3(FANCE):c.-4C>T single nucleotide variant FANCE-related condition [RCV003949704] Chr6:35452542 [GRCh38]
Chr6:35420319 [GRCh37]
Chr6:6p21.31		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:391
Count of miRNA genes:331
Interacting mature miRNAs:348
Transcripts:ENST00000229769
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
FANCE_1493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37635,434,057 - 35,434,884UniSTSGRCh37
Build 36635,542,035 - 35,542,862RGDNCBI36
Celera636,988,036 - 36,988,863RGD
HuRef635,154,811 - 35,155,638UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 224 823 118 54 713 34 3047 304 641 63 1077 517 32 295 1970 5
Low 2215 2143 1563 526 1217 387 1310 1889 3085 353 383 1096 142 1 909 818 1 2
Below cutoff 25 45 44 21 44 4 8 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF265210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ020173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000229769   ⟹   ENSP00000229769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,452,338 - 35,467,102 (+)Ensembl
RefSeq Acc Id: ENST00000648059   ⟹   ENSP00000497902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,452,356 - 35,466,961 (+)Ensembl
RefSeq Acc Id: ENST00000696264   ⟹   ENSP00000512511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,452,546 - 35,467,064 (+)Ensembl
RefSeq Acc Id: ENST00000696265   ⟹   ENSP00000512512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,452,546 - 35,467,081 (+)Ensembl
RefSeq Acc Id: ENST00000696266   ⟹   ENSP00000512513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,455,781 - 35,466,963 (+)Ensembl
RefSeq Acc Id: ENST00000696267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,455,859 - 35,467,075 (+)Ensembl
RefSeq Acc Id: ENST00000696268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,459,358 - 35,460,946 (+)Ensembl
RefSeq Acc Id: ENST00000696269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,461,790 - 35,467,104 (+)Ensembl
RefSeq Acc Id: NM_001410876   ⟹   NP_001397805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,338 - 35,467,102 (+)NCBI
T2T-CHM13v2.0635,275,414 - 35,290,178 (+)NCBI
RefSeq Acc Id: NM_021922   ⟹   NP_068741
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,338 - 35,467,102 (+)NCBI
GRCh37635,420,116 - 35,434,918 (+)NCBI
Build 36635,528,116 - 35,542,859 (+)NCBI Archive
HuRef635,140,912 - 35,155,635 (+)ENTREZGENE
CHM1_1635,422,162 - 35,436,892 (+)NCBI
T2T-CHM13v2.0635,275,414 - 35,290,178 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248885   ⟹   XP_005248942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,338 - 35,467,102 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248886   ⟹   XP_005248943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,338 - 35,467,102 (+)NCBI
GRCh37635,420,116 - 35,434,918 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248887   ⟹   XP_005248944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,338 - 35,467,102 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514343   ⟹   XP_011512645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,852 - 35,467,102 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047418300   ⟹   XP_047274256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,338 - 35,467,102 (+)NCBI
RefSeq Acc Id: XM_047418301   ⟹   XP_047274257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,338 - 35,462,900 (+)NCBI
RefSeq Acc Id: XM_047418302   ⟹   XP_047274258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,670 - 35,467,102 (+)NCBI
RefSeq Acc Id: XM_047418303   ⟹   XP_047274259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,338 - 35,467,102 (+)NCBI
RefSeq Acc Id: XM_054354494   ⟹   XP_054210469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0635,275,414 - 35,290,178 (+)NCBI
RefSeq Acc Id: XM_054354495   ⟹   XP_054210470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0635,275,414 - 35,290,178 (+)NCBI
RefSeq Acc Id: XM_054354496   ⟹   XP_054210471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0635,275,414 - 35,290,178 (+)NCBI
RefSeq Acc Id: XM_054354497   ⟹   XP_054210472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0635,275,414 - 35,290,178 (+)NCBI
RefSeq Acc Id: XM_054354498   ⟹   XP_054210473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0635,275,414 - 35,285,976 (+)NCBI
RefSeq Acc Id: XM_054354499   ⟹   XP_054210474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0635,275,928 - 35,290,178 (+)NCBI
RefSeq Acc Id: XM_054354500   ⟹   XP_054210475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0635,275,841 - 35,290,178 (+)NCBI
RefSeq Acc Id: XM_054354501   ⟹   XP_054210476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0635,275,414 - 35,290,178 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001397805 (Get FASTA)   NCBI Sequence Viewer  
  NP_068741 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248942 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248943 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248944 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512645 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274256 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274257 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274258 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274259 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210469 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210473 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210474 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210476 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG16743 (Get FASTA)   NCBI Sequence Viewer  
  AAH46359 (Get FASTA)   NCBI Sequence Viewer  
  AAY26395 (Get FASTA)   NCBI Sequence Viewer  
  BAF85211 (Get FASTA)   NCBI Sequence Viewer  
  EAX03830 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000229769
  ENSP00000229769.2
  ENSP00000497902.1
  ENSP00000512511
  ENSP00000512511.1
  ENSP00000512512
  ENSP00000512512.1
  ENSP00000512513.1
GenBank Protein Q9HB96 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_068741   ⟸   NM_021922
- Peptide Label: isoform 1
- UniProtKB: A8K907 (UniProtKB/Swiss-Prot),   Q4ZGH2 (UniProtKB/Swiss-Prot),   Q9HB96 (UniProtKB/Swiss-Prot),   A0A3B3ITU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248944   ⟸   XM_005248887
- Peptide Label: isoform X3
- UniProtKB: A0A3B3ITU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248942   ⟸   XM_005248885
- Peptide Label: isoform X1
- UniProtKB: A0A3B3ITU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248943   ⟸   XM_005248886
- Peptide Label: isoform X2
- UniProtKB: A0A3B3ITU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512645   ⟸   XM_011514343
- Peptide Label: isoform X6
- UniProtKB: A0A3B3ITU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497902   ⟸   ENST00000648059
RefSeq Acc Id: ENSP00000229769   ⟸   ENST00000229769
RefSeq Acc Id: ENSP00000512512   ⟸   ENST00000696265
RefSeq Acc Id: ENSP00000512511   ⟸   ENST00000696264
RefSeq Acc Id: ENSP00000512513   ⟸   ENST00000696266
RefSeq Acc Id: XP_047274256   ⟸   XM_047418300
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047274259   ⟸   XM_047418303
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047274257   ⟸   XM_047418301
- Peptide Label: isoform X5
- UniProtKB: A0A8Q3WMB8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274258   ⟸   XM_047418302
- Peptide Label: isoform X6
RefSeq Acc Id: NP_001397805   ⟸   NM_001410876
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3WL50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210471   ⟸   XM_054354496
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054210469   ⟸   XM_054354494
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054210470   ⟸   XM_054354495
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054210472   ⟸   XM_054354497
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054210476   ⟸   XM_054354501
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054210473   ⟸   XM_054354498
- Peptide Label: isoform X5
- UniProtKB: A0A8Q3WMB8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210475   ⟸   XM_054354500
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054210474   ⟸   XM_054354499
- Peptide Label: isoform X6
Protein Domains
Fanconi Anaemia group E protein C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HB96-F1-model_v2 AlphaFold Q9HB96 1-536 view protein structure

Promoters
RGD ID:6872964
Promoter ID:EPDNEW_H9647
Type:initiation region
Name:FANCE_1
Description:Fanconi anemia complementation group E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,452,338 - 35,452,398EPDNEW
RGD ID:6804225
Promoter ID:HG_KWN:53322
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_021922,   UC010JVW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36635,527,901 - 35,528,401 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3586 AgrOrtholog
COSMIC FANCE COSMIC
Ensembl Genes ENSG00000112039 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000229769 ENTREZGENE
  ENST00000229769.3 UniProtKB/Swiss-Prot
  ENST00000648059.1 UniProtKB/TrEMBL
  ENST00000696264 ENTREZGENE
  ENST00000696264.1 UniProtKB/TrEMBL
  ENST00000696265 ENTREZGENE
  ENST00000696265.1 UniProtKB/TrEMBL
  ENST00000696266.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.480 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112039 GTEx
HGNC ID HGNC:3586 ENTREZGENE
Human Proteome Map FANCE Human Proteome Map
InterPro FANCE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fanconi_anaemia_gr_E_prot_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2178 UniProtKB/Swiss-Prot
NCBI Gene 2178 ENTREZGENE
OMIM 613976 OMIM
PANTHER FANCONI ANEMIA GROUP E PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR32094 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FA_FANCE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28000 PharmGKB
UniProt A0A3B3ITU7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SIL2_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL50 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WMB8 ENTREZGENE, UniProtKB/TrEMBL
  A8K907 ENTREZGENE
  FANCE_HUMAN UniProtKB/Swiss-Prot
  Q4ZGH2 ENTREZGENE
  Q9HB96 ENTREZGENE
UniProt Secondary A8K907 UniProtKB/Swiss-Prot
  Q4ZGH2 UniProtKB/Swiss-Prot


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