FANCI (FA complementation group I) - Rat Genome Database
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Gene: FANCI (FA complementation group I) Homo sapiens
Analyze
Symbol: FANCI
Name: FA complementation group I
RGD ID: 1605380
HGNC Page HGNC
Description: Exhibits DNA polymerase binding activity. Involved in positive regulation of protein ubiquitination. Localizes to cytosol and nucleoplasm. Implicated in Fanconi anemia and Fanconi anemia complementation group I. Biomarker of tongue squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Fanconi anemia complementation group I; Fanconi anemia group I protein; Fanconi anemia, complementation group I; FLJ10719; KIAA1794
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1589,243,949 - 89,317,261 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1589,243,945 - 89,317,261 (+)EnsemblGRCh38hg38GRCh38
GRCh381589,243,973 - 89,317,259 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371589,787,210 - 89,860,490 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371589,785,634 - 89,860,362 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361587,588,198 - 87,661,366 (+)NCBINCBI36hg18NCBI36
Celera1566,188,469 - 66,261,721 (+)NCBI
Cytogenetic Map15q26.1NCBI
HuRef1565,899,078 - 65,972,245 (+)NCBIHuRef
CHM1_11589,628,176 - 89,701,402 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
amphetamine  (ISO)
asbestos  (EXP)
avobenzone  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
digitoxin  (EXP)
digoxin  (EXP)
dioxygen  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
fragrance  (EXP)
genistein  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
Lasiocarpine  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lucanthone  (EXP)
methyl methanesulfonate  (EXP)
mitomycin C  (EXP)
N-Nitrosopyrrolidine  (EXP)
ouabain  (EXP)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP)
PCB138  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl isothiocyanate  (EXP)
piroxicam  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
T-2 toxin  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP)
trimellitic anhydride  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA)
cytosol  (IDA)
membrane  (HDA)
nucleoplasm  (IDA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of femur morphology  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the preputium  (IAGP)
Absent septum pellucidum  (IAGP)
Absent testis  (IAGP)
Absent thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of corpus callosum  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Arnold-Chiari malformation  (IAGP)
Arteriovenous malformation  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Bone marrow hypocellularity  (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)
Colpocephaly  (IAGP)
Conductive hearing impairment  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased body weight  (IAGP)
Decreased fertility in males  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Dolichocephaly  (IAGP)
Duodenal stenosis  (IAGP)
Epicanthus  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Fused cervical vertebrae  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Leukopenia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Myopia  (IAGP)
Neutropenia  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pallor  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pes planus  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Scoliosis  (IAGP)
Short 1st metacarpal  (IAGP)
Short neck  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Sloping forehead  (IAGP)
Spina bifida  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Triangular face  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

Additional References at PubMed
PMID:11347906   PMID:12477932   PMID:14630800   PMID:14702039   PMID:15146197   PMID:15199141   PMID:15489334   PMID:16964243   PMID:17353931   PMID:17412408   PMID:17460694   PMID:17478428  
PMID:18029348   PMID:18082604   PMID:18445686   PMID:18931676   PMID:19111657   PMID:19465922   PMID:19536649   PMID:19561358   PMID:19589784   PMID:19615732   PMID:19737859   PMID:19946888  
PMID:19995904   PMID:20301575   PMID:20301753   PMID:20467437   PMID:20562859   PMID:20603015   PMID:20671156   PMID:20971953   PMID:21145461   PMID:21355096   PMID:21415862   PMID:21654808  
PMID:21719678   PMID:21775430   PMID:21832049   PMID:21873635   PMID:21896657   PMID:22199357   PMID:22258451   PMID:22586326   PMID:22658674   PMID:22678362   PMID:22855611   PMID:22863883  
PMID:23383273   PMID:23443559   PMID:23455922   PMID:23993743   PMID:24005329   PMID:24278431   PMID:24451376   PMID:24623813   PMID:24794430   PMID:24800743   PMID:25036637   PMID:25066130  
PMID:25168188   PMID:25319828   PMID:25489943   PMID:25557546   PMID:25659154   PMID:25843623   PMID:25862789   PMID:25921289   PMID:26187992   PMID:26336824   PMID:26344197   PMID:26430909  
PMID:26496610   PMID:26514267   PMID:26625197   PMID:26638075   PMID:26687479   PMID:26972000   PMID:27097374   PMID:27114453   PMID:27239033   PMID:27320910   PMID:27405460   PMID:27634302  
PMID:27686023   PMID:27694619   PMID:27705803   PMID:27773793   PMID:27880917   PMID:27986371   PMID:28330616   PMID:28575658   PMID:28636932   PMID:28675297   PMID:28684355   PMID:28712289  
PMID:28883622   PMID:28986522   PMID:29030393   PMID:29059323   PMID:29117863   PMID:29180619   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29656893   PMID:29802200  
PMID:30352685   PMID:30365131   PMID:30415952   PMID:30455355   PMID:30456385   PMID:30692263   PMID:30833792   PMID:30948266   PMID:31073040   PMID:31091453   PMID:31180492   PMID:31240132  
PMID:31586073   PMID:31620119   PMID:31980649   PMID:32092106   PMID:32203420   PMID:32269332   PMID:32416067   PMID:33060197  


Genomics

Comparative Map Data
FANCI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1589,243,949 - 89,317,261 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1589,243,945 - 89,317,261 (+)EnsemblGRCh38hg38GRCh38
GRCh381589,243,973 - 89,317,259 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371589,787,210 - 89,860,490 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371589,785,634 - 89,860,362 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361587,588,198 - 87,661,366 (+)NCBINCBI36hg18NCBI36
Celera1566,188,469 - 66,261,721 (+)NCBI
Cytogenetic Map15q26.1NCBI
HuRef1565,899,078 - 65,972,245 (+)NCBIHuRef
CHM1_11589,628,176 - 89,701,402 (+)NCBICHM1_1
Fanci
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39779,042,056 - 79,100,013 (+)NCBIGRCm39mm39
GRCm38779,392,312 - 79,450,266 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl779,391,929 - 79,450,264 (+)EnsemblGRCm38mm10GRCm38
MGSCv37786,537,224 - 86,595,150 (+)NCBIGRCm37mm9NCBIm37
MGSCv36779,265,866 - 79,323,777 (+)NCBImm8
Celera776,790,497 - 76,852,630 (+)NCBICelera
Cytogenetic Map7D2NCBI
Fanci
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21133,327,264 - 133,383,661 (+)NCBI
Rnor_6.0 Ensembl1141,120,166 - 141,172,483 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01141,116,565 - 141,172,997 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01142,078,658 - 142,134,772 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41135,144,029 - 135,196,828 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1125,390,494 - 125,446,830 (+)NCBICelera
Cytogenetic Map1q31NCBI
Fanci
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541615,788,922 - 15,853,480 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541615,788,812 - 15,857,933 (-)NCBIChiLan1.0ChiLan1.0
FANCI
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11587,142,871 - 87,215,271 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1587,142,871 - 87,215,271 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01567,935,882 - 68,009,033 (+)NCBIMhudiblu_PPA_v0panPan3
FANCI
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl352,282,731 - 52,357,226 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1352,282,955 - 52,357,874 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Fanci
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493648315,096,215 - 15,179,856 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FANCI
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl754,744,742 - 54,890,997 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1754,811,024 - 54,889,992 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2759,782,093 - 59,865,530 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FANCI
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1297,788,983 - 7,864,505 (+)NCBI
ChlSab1.1 Ensembl297,790,458 - 7,855,552 (+)Ensembl
Fanci
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476816,427,060 - 16,493,850 (+)NCBI

Position Markers
RH68306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,859,580 - 89,859,784UniSTSGRCh37
Build 361587,660,584 - 87,660,788RGDNCBI36
Celera1566,260,939 - 66,261,143RGD
Cytogenetic Map15q25UniSTS
Cytogenetic Map15q26.1UniSTS
HuRef1565,971,463 - 65,971,667UniSTS
GeneMap99-GB4 RH Map15318.56UniSTS
D15S736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,836,864 - 89,837,088UniSTSGRCh37
Build 361587,637,868 - 87,638,092RGDNCBI36
Celera1566,238,147 - 66,238,371RGD
Cytogenetic Map15q26.1UniSTS
HuRef1565,948,746 - 65,948,970UniSTS
Whitehead-RH Map15337.4UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map15631.3UniSTS
csnppolg-pcr23-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,859,450 - 89,860,184UniSTSGRCh37
Build 361587,660,454 - 87,661,188RGDNCBI36
Celera1566,260,809 - 66,261,543RGD
Cytogenetic Map15q25UniSTS
Cytogenetic Map15q26.1UniSTS
HuRef1565,971,333 - 65,972,067UniSTS
PMC311040P10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,849,247 - 89,849,486UniSTSGRCh37
Build 361587,650,251 - 87,650,490RGDNCBI36
Celera1566,250,536 - 66,250,775RGD
Cytogenetic Map15q26.1UniSTS
HuRef1565,961,131 - 65,961,370UniSTS
D15S1387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,834,660 - 89,834,890UniSTSGRCh37
Build 361587,635,664 - 87,635,894RGDNCBI36
Celera1566,235,943 - 66,236,173RGD
HuRef1565,946,542 - 65,946,772UniSTS
D15S1449E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,860,757 - 89,860,841UniSTSGRCh37
Build 361587,661,761 - 87,661,845RGDNCBI36
Celera1566,262,116 - 66,262,200RGD
HuRef1565,972,640 - 65,972,724UniSTS
D15S1452E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,822,320 - 89,822,446UniSTSGRCh37
Build 361587,623,324 - 87,623,450RGDNCBI36
Celera1566,223,600 - 66,223,726RGD
HuRef1565,934,192 - 65,934,315UniSTS
RH67845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,860,079 - 89,860,199UniSTSGRCh37
Build 361587,661,083 - 87,661,203RGDNCBI36
Celera1566,261,438 - 66,261,558RGD
Cytogenetic Map15q25UniSTS
Cytogenetic Map15q26.1UniSTS
HuRef1565,971,962 - 65,972,082UniSTS
GeneMap99-GB4 RH Map15318.56UniSTS
NCBI RH Map15695.4UniSTS
RH66025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,833,113 - 89,833,244UniSTSGRCh37
Build 361587,634,117 - 87,634,248RGDNCBI36
Celera1566,234,396 - 66,234,527RGD
Cytogenetic Map15q26.1UniSTS
HuRef1565,944,995 - 65,945,126UniSTS
GeneMap99-GB4 RH Map15320.51UniSTS
NCBI RH Map15692.0UniSTS
RH77770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,859,599 - 89,859,709UniSTSGRCh37
Build 361587,660,603 - 87,660,713RGDNCBI36
Celera1566,260,958 - 66,261,068RGD
Cytogenetic Map15q25UniSTS
Cytogenetic Map15q26.1UniSTS
HuRef1565,971,482 - 65,971,592UniSTS
GeneMap99-GB4 RH Map15318.62UniSTS
MARC_7859-7860:996688105:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,860,012 - 89,860,754UniSTSGRCh37
Build 361587,661,016 - 87,661,758RGDNCBI36
Celera1566,261,371 - 66,262,113RGD
HuRef1565,971,895 - 65,972,637UniSTS
POLG  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371589,859,623 - 89,859,801UniSTSGRCh37
Celera1566,260,982 - 66,261,160UniSTS
HuRef1565,971,506 - 65,971,684UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2215
Count of miRNA genes:897
Interacting mature miRNAs:1059
Transcripts:ENST00000300027, ENST00000310775, ENST00000447611, ENST00000451393, ENST00000561894, ENST00000563250, ENST00000564350, ENST00000564636, ENST00000564920, ENST00000565255, ENST00000565522, ENST00000566615, ENST00000566895, ENST00000567891, ENST00000567996, ENST00000568670, ENST00000570110, ENST00000570225
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 268 39 70 61 761 62 467 61 134 87 662 322 12 20 110 3
Low 2170 2714 1584 492 1145 332 3525 1597 3390 311 798 1291 163 1 1184 2314 2 2
Below cutoff 1 237 72 71 45 71 364 539 210 21 364

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB058697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM461935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ050477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU187299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN365698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF469766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF567077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300027   ⟹   ENSP00000300027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,243,949 - 89,317,261 (+)Ensembl
RefSeq Acc Id: ENST00000310775   ⟹   ENSP00000310842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,243,979 - 89,317,131 (+)Ensembl
RefSeq Acc Id: ENST00000447611   ⟹   ENSP00000413249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,244,004 - 89,316,481 (+)Ensembl
RefSeq Acc Id: ENST00000561894   ⟹   ENSP00000455189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,263,437 - 89,316,444 (+)Ensembl
RefSeq Acc Id: ENST00000563250   ⟹   ENSP00000457029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,244,034 - 89,264,004 (+)Ensembl
RefSeq Acc Id: ENST00000564350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,282,993 - 89,290,592 (+)Ensembl
RefSeq Acc Id: ENST00000564636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,247,602 - 89,259,350 (+)Ensembl
RefSeq Acc Id: ENST00000564920   ⟹   ENSP00000456552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,243,990 - 89,261,673 (+)Ensembl
RefSeq Acc Id: ENST00000565255   ⟹   ENSP00000454371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,243,990 - 89,264,037 (+)Ensembl
RefSeq Acc Id: ENST00000565522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,244,250 - 89,314,646 (+)Ensembl
RefSeq Acc Id: ENST00000566615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,307,859 - 89,316,426 (+)Ensembl
RefSeq Acc Id: ENST00000566895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,278,687 - 89,317,128 (+)Ensembl
RefSeq Acc Id: ENST00000567891   ⟹   ENSP00000455735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,243,975 - 89,261,847 (+)Ensembl
RefSeq Acc Id: ENST00000567996   ⟹   ENSP00000458024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,244,017 - 89,264,651 (+)Ensembl
RefSeq Acc Id: ENST00000568670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,243,973 - 89,260,765 (+)Ensembl
RefSeq Acc Id: ENST00000570110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,244,008 - 89,259,068 (+)Ensembl
RefSeq Acc Id: ENST00000570225   ⟹   ENSP00000454669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,261,838 - 89,268,631 (+)Ensembl
RefSeq Acc Id: ENST00000674831   ⟹   ENSP00000502474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,243,945 - 89,316,471 (+)Ensembl
RefSeq Acc Id: ENST00000675352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,308,923 - 89,317,103 (+)Ensembl
RefSeq Acc Id: ENST00000676003   ⟹   ENSP00000502254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,243,983 - 89,316,834 (+)Ensembl
RefSeq Acc Id: ENST00000676110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,309,672 - 89,316,974 (+)Ensembl
RefSeq Acc Id: NM_001113378   ⟹   NP_001106849
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,243,979 - 89,317,131 (+)NCBI
GRCh371589,785,634 - 89,860,362 (+)NCBI
HuRef1565,899,078 - 65,972,245 (+)ENTREZGENE
CHM1_11589,628,176 - 89,701,402 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376910   ⟹   NP_001363839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,243,979 - 89,317,131 (+)NCBI
RefSeq Acc Id: NM_001376911   ⟹   NP_001363840
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,243,979 - 89,317,131 (+)NCBI
RefSeq Acc Id: NM_018193   ⟹   NP_060663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,243,979 - 89,317,259 (+)NCBI
GRCh371589,785,634 - 89,860,362 (+)NCBI
Build 361587,588,198 - 87,661,366 (+)NCBI Archive
HuRef1565,899,078 - 65,972,245 (+)ENTREZGENE
CHM1_11589,628,176 - 89,701,402 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521756   ⟹   XP_011520058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,243,973 - 89,317,132 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521764   ⟹   XP_011520066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,243,973 - 89,317,132 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001106849   ⟸   NM_001113378
- Peptide Label: isoform 1
- UniProtKB: Q9NVI1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060663   ⟸   NM_018193
- Peptide Label: isoform 2
- UniProtKB: Q9NVI1 (UniProtKB/Swiss-Prot),   B3KNW8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520058   ⟸   XM_011521756
- Peptide Label: isoform X1
- UniProtKB: Q9NVI1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520066   ⟸   XM_011521764
- Peptide Label: isoform X2
- UniProtKB: Q9NVI1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001363840   ⟸   NM_001376911
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001363839   ⟸   NM_001376910
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000454669   ⟸   ENST00000570225
RefSeq Acc Id: ENSP00000310842   ⟸   ENST00000310775
RefSeq Acc Id: ENSP00000455189   ⟸   ENST00000561894
RefSeq Acc Id: ENSP00000457029   ⟸   ENST00000563250
RefSeq Acc Id: ENSP00000300027   ⟸   ENST00000300027
RefSeq Acc Id: ENSP00000456552   ⟸   ENST00000564920
RefSeq Acc Id: ENSP00000454371   ⟸   ENST00000565255
RefSeq Acc Id: ENSP00000413249   ⟸   ENST00000447611
RefSeq Acc Id: ENSP00000458024   ⟸   ENST00000567996
RefSeq Acc Id: ENSP00000455735   ⟸   ENST00000567891
RefSeq Acc Id: ENSP00000502474   ⟸   ENST00000674831
RefSeq Acc Id: ENSP00000502254   ⟸   ENST00000676003
Protein Domains
FANCI_HD1   FANCI_HD2   FANCI_S1   FANCI_S1-cap   FANCI_S2   FANCI_S3   FANCI_S4

Promoters
RGD ID:6792355
Promoter ID:HG_KWN:22291
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001113378,   OTTHUMT00000256568,   UC002BNN.1,   UC002BNO.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361587,588,009 - 87,588,509 (+)MPROMDB
RGD ID:7230463
Promoter ID:EPDNEW_H20977
Type:initiation region
Name:FANCI_1
Description:Fanconi anemia complementation group I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,243,979 - 89,244,039EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001113378.1(FANCI):c.3473G>T (p.Cys1158Phe) single nucleotide variant Fanconi anemia [RCV000549476] Chr15:89306130 [GRCh38]
Chr15:89849361 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.601A>G (p.Met201Val) single nucleotide variant Fanconi anemia [RCV000529589]|Fanconi anemia, complementation group I [RCV001117326] Chr15:89263958 [GRCh38]
Chr15:89807189 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3671T>C (p.Ile1224Thr) single nucleotide variant Progressive sclerosing poliodystrophy [RCV000758337]|not provided [RCV000522166] Chr15:89316800 [GRCh38]
Chr15:89860031 [GRCh37]
Chr15:15q26.1
uncertain significance
FANCI, 2T-C single nucleotide variant Fanconi anemia, complementation group I [RCV000001022] Chr15:15q25-q26 pathogenic
NM_018193.3(FANCI):c.3674G>A (p.Arg1225Gln) single nucleotide variant Fanconi anemia, complementation group I [RCV000001023] Chr15:89315319 [GRCh38]
Chr15:89858550 [GRCh37]
Chr15:15q26.1
pathogenic
NM_018193.3(FANCI):c.3673C>T (p.Arg1225Ter) single nucleotide variant Fanconi anemia, complementation group I [RCV000001024]|not provided [RCV000584965] Chr15:89315318 [GRCh38]
Chr15:89858549 [GRCh37]
Chr15:15q26.1
pathogenic|uncertain significance
FANCI, IVS31AS, A-G, -88 single nucleotide variant Fanconi anemia, complementation group I [RCV000001025] Chr15:15q25-q26 pathogenic
NM_001113378.1(FANCI):c.2509G>T (p.Glu837Ter) single nucleotide variant Fanconi anemia, complementation group I [RCV000778449] Chr15:89294967 [GRCh38]
Chr15:89838198 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_001113378.1(FANCI):c.3041G>A (p.Cys1014Tyr) single nucleotide variant Fanconi anemia [RCV001239482]|Fanconi anemia, complementation group I [RCV000778450] Chr15:89303898 [GRCh38]
Chr15:89847129 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_018193.3(FANCI):c.286dup (p.Glu96fs) duplication not provided [RCV000727622] Chr15:89260839..89260840 [GRCh38]
Chr15:89804070..89804071 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_001113378.1(FANCI):c.3865A>G (p.Ile1289Val) single nucleotide variant Fanconi anemia [RCV000547520]|not specified [RCV001194160] Chr15:89315330 [GRCh38]
Chr15:89858561 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.993G>A (p.Lys331=) single nucleotide variant Fanconi anemia [RCV000544746] Chr15:89274185 [GRCh38]
Chr15:89817416 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.288+3A>G single nucleotide variant Fanconi anemia [RCV000546775] Chr15:89260846 [GRCh38]
Chr15:89804077 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1992+10T>C single nucleotide variant not provided [RCV000526385] Chr15:89291724 [GRCh38]
Chr15:89834955 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.2170-4T>C single nucleotide variant Fanconi anemia [RCV000525644] Chr15:89292938 [GRCh38]
Chr15:89836169 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.179C>G (p.Ala60Gly) single nucleotide variant Fanconi anemia [RCV000547742] Chr15:89260734 [GRCh38]
Chr15:89803965 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
NM_001113378.1(FANCI):c.1467C>T (p.Ser489=) single nucleotide variant Malignant melanoma [RCV000070944] Chr15:89281255 [GRCh38]
Chr15:89824486 [GRCh37]
Chr15:87625490 [NCBI36]
Chr15:15q26.1
not provided
NM_001113378.1(FANCI):c.2895C>T (p.Ser965=) single nucleotide variant Malignant melanoma [RCV000070945] Chr15:89301331 [GRCh38]
Chr15:89844562 [GRCh37]
Chr15:87645566 [NCBI36]
Chr15:15q26.1
not provided
NM_002693.2(POLG):c.3644-9A>G single nucleotide variant Fanconi anemia, complementation group I [RCV000352728]|Progressive sclerosing poliodystrophy [RCV000467871]|not provided [RCV000857933]|not specified [RCV000118021] Chr15:89316836 [GRCh38]
Chr15:89860067 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) single nucleotide variant Fanconi anemia [RCV000291582]|Fanconi anemia, complementation group I [RCV001000243]|Mitochondrial diseases [RCV000020480]|POLG-Related Spectrum Disorders [RCV000327842]|Progressive sclerosing poliodystrophy [RCV000758401]|Seizures [RCV000715848]|not provided [RCV000676315]|not specified [RCV000118022] Chr15:89316763 [GRCh38]
Chr15:89859994 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_002693.2(POLG):c.3700C>A (p.Arg1234=) single nucleotide variant Progressive sclerosing poliodystrophy [RCV000536053]|not provided [RCV000710187]|not specified [RCV000127550] Chr15:89316771 [GRCh38]
Chr15:89860002 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001113378.2(FANCI):c.2422A>T single nucleotide variant Fanconi anemia [RCV000630839]|Fanconi anemia, complementation group I [RCV000190643] Chr15:89293963 [GRCh38]
Chr15:89837194 [GRCh37]
Chr15:15q26.1
pathogenic|likely pathogenic
NM_001113378.1(FANCI):c.3812C>T (p.Ser1271Phe) single nucleotide variant Malignant tumor of breast [RCV001004844] Chr15:89314703 [GRCh38]
Chr15:89857934 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) single nucleotide variant Fanconi anemia [RCV001084635]|Fanconi anemia, complementation group A [RCV000989374]|Fanconi anemia, complementation group I [RCV001117437]|not provided [RCV000224770]|not specified [RCV000193016] Chr15:89285210 [GRCh38]
Chr15:89828441 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001113378.1(FANCI):c.3721-127_3721-126insGTACAA insertion not specified [RCV000194734] Chr15:89314480..89314481 [GRCh38]
Chr15:89857711..89857712 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) single nucleotide variant Fanconi anemia [RCV000231441]|Fanconi anemia, complementation group I [RCV001121009]|not specified [RCV000193501] Chr15:89294945 [GRCh38]
Chr15:89838176 [GRCh37]
Chr15:15q26.1
benign|likely benign|uncertain significance
NM_001113378.1(FANCI):c.2056C>A (p.Gln686Lys) single nucleotide variant Fanconi anemia [RCV000196010]|Fanconi anemia, complementation group I [RCV001119040] Chr15:89292751 [GRCh38]
Chr15:89835982 [GRCh37]
Chr15:15q26.1
likely pathogenic|benign|likely benign
NM_001113378.1(FANCI):c.2883A>G (p.Gln961=) single nucleotide variant Fanconi anemia [RCV000200479] Chr15:89300379 [GRCh38]
Chr15:89843610 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.*560A>G single nucleotide variant not specified [RCV000194820] Chr15:89317019 [GRCh38]
Chr15:89860250 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3644-14G>C single nucleotide variant Progressive sclerosing poliodystrophy [RCV000758554]|not specified [RCV000188538] Chr15:89316841 [GRCh38]
Chr15:89860072 [GRCh37]
Chr15:15q26.1
benign
NM_002693.2(POLG):c.3652C>T (p.Leu1218=) single nucleotide variant Progressive sclerosing poliodystrophy [RCV000758388]|not provided [RCV000726207]|not specified [RCV000188539] Chr15:89316819 [GRCh38]
Chr15:89860050 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002693.2(POLG):c.3701G>A (p.Arg1234Gln) single nucleotide variant not specified [RCV000188540] Chr15:89316770 [GRCh38]
Chr15:89860001 [GRCh37]
Chr15:15q26.1
likely benign
NM_002693.2(POLG):c.*12G>A single nucleotide variant not specified [RCV000188541] Chr15:89316739 [GRCh38]
Chr15:89859970 [GRCh37]
Chr15:15q26.1
likely benign
NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) single nucleotide variant Fanconi anemia, complementation group I [RCV001116313]|POLG-Related Spectrum Disorders [RCV001116314]|Progressive sclerosing poliodystrophy [RCV000758560]|Progressive sclerosing poliodystrophy [RCV000765233]|not provided [RCV000766619]|not specified [RCV000188632] Chr15:89316821 [GRCh38]
Chr15:89860052 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) single nucleotide variant Fanconi anemia [RCV000387145]|Fanconi anemia, complementation group I [RCV001121231]|POLG-Related Spectrum Disorders [RCV000292852]|Progressive sclerosing poliodystrophy [RCV000794915] Chr15:89316771 [GRCh38]
Chr15:89860002 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.*49G>A single nucleotide variant Fanconi anemia, complementation group I [RCV000361772]|POLG-Related Spectrum Disorders [RCV000267134]|Progressive sclerosing poliodystrophy [RCV000758389] Chr15:89316702 [GRCh38]
Chr15:89859933 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.286G>A (p.Glu96Lys) single nucleotide variant Fanconi anemia [RCV000205204]|Fanconi anemia, complementation group I [RCV001115870] Chr15:89260841 [GRCh38]
Chr15:89804072 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.3924+1G>A single nucleotide variant Fanconi anemia [RCV000206316] Chr15:89315390 [GRCh38]
Chr15:89858621 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_001113378.1(FANCI):c.445G>A (p.Gly149Ser) single nucleotide variant Fanconi anemia [RCV000206405] Chr15:89261741 [GRCh38]
Chr15:89804972 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.3444_3445GT[1] (p.Cys1149fs) microsatellite Fanconi anemia [RCV000203795] Chr15:89307644..89307645 [GRCh38]
Chr15:89850875..89850876 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.1(FANCI):c.236G>A (p.Gly79Glu) single nucleotide variant Fanconi anemia [RCV000543012] Chr15:89260791 [GRCh38]
Chr15:89804022 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1680G>A (p.Gln560=) single nucleotide variant Fanconi anemia [RCV000544332] Chr15:89283232 [GRCh38]
Chr15:89826463 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) single nucleotide variant Fanconi anemia [RCV000228217]|Fanconi anemia, complementation group I [RCV001094371]|not provided [RCV000430909] Chr15:89292706 [GRCh38]
Chr15:89835937 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.3592-8T>C single nucleotide variant Fanconi anemia [RCV000230437]|Fanconi anemia, complementation group I [RCV001121120]|not specified [RCV000244630] Chr15:89307605 [GRCh38]
Chr15:89850836 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001113378.1(FANCI):c.1741G>A (p.Glu581Lys) single nucleotide variant Fanconi anemia [RCV000230658] Chr15:89285138 [GRCh38]
Chr15:89828369 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.905A>G (p.Asn302Ser) single nucleotide variant Fanconi anemia [RCV000228659] Chr15:89273399 [GRCh38]
Chr15:89816630 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) single nucleotide variant Fanconi anemia [RCV000228956]|Fanconi anemia, complementation group I [RCV001094276]|not provided [RCV000766508]|not specified [RCV000482252] Chr15:89281825 [GRCh38]
Chr15:89825056 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.1211T>C (p.Ile404Thr) single nucleotide variant Fanconi anemia [RCV001082996]|not provided [RCV000515122] Chr15:89276809 [GRCh38]
Chr15:89820040 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) single nucleotide variant Fanconi anemia [RCV000229685]|Fanconi anemia, complementation group I [RCV001094317]|not specified [RCV000247675] Chr15:89301433 [GRCh38]
Chr15:89844664 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) single nucleotide variant Fanconi anemia [RCV000230137]|Fanconi anemia, complementation group I [RCV001094277]|not provided [RCV000424552] Chr15:89295062 [GRCh38]
Chr15:89838293 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.2167C>T (p.Leu723=) single nucleotide variant not provided [RCV000226036] Chr15:89292862 [GRCh38]
Chr15:89836093 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3255+6dup duplication Fanconi anemia [RCV001080863]|not provided [RCV000421284] Chr15:89305414..89305415 [GRCh38]
Chr15:89848645..89848646 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001113378.1(FANCI):c.33A>G (p.Glu11=) single nucleotide variant Fanconi anemia [RCV000227605] Chr15:89247680 [GRCh38]
Chr15:89790911 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3389T>A (p.Val1130Asp) single nucleotide variant Fanconi anemia [RCV000232922] Chr15:89306046 [GRCh38]
Chr15:89849277 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2781T>A (p.Ile927=) single nucleotide variant not provided [RCV000233001] Chr15:89299944 [GRCh38]
Chr15:89843175 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.2547A>G (p.Lys849=) single nucleotide variant Fanconi anemia [RCV000226449] Chr15:89295005 [GRCh38]
Chr15:89838236 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met) single nucleotide variant Fanconi anemia [RCV000233382]|Fanconi anemia, complementation group I [RCV001119128] Chr15:89305390 [GRCh38]
Chr15:89848621 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) single nucleotide variant Fanconi anemia [RCV000233693]|Fanconi anemia, complementation group I [RCV001094367] Chr15:89264605 [GRCh38]
Chr15:89807836 [GRCh37]
Chr15:15q26.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) single nucleotide variant Fanconi anemia [RCV000230835] Chr15:89263422 [GRCh38]
Chr15:89806653 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) single nucleotide variant Fanconi anemia [RCV000226832]|Fanconi anemia, complementation group I [RCV001094316]|not provided [RCV000514238] Chr15:89300328 [GRCh38]
Chr15:89843559 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.3379A>G (p.Asn1127Asp) single nucleotide variant Fanconi anemia [RCV000231184] Chr15:89306036 [GRCh38]
Chr15:89849267 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.2066_2077AGGAGGAAGAGG[1] (p.Glu693_Glu696del) microsatellite Fanconi anemia [RCV000232189] Chr15:89292760..89292771 [GRCh38]
Chr15:89835991..89836002 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) single nucleotide variant Fanconi anemia [RCV000233977]|Fanconi anemia, complementation group I [RCV000763987] Chr15:89281187 [GRCh38]
Chr15:89824418 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1891-6A>G single nucleotide variant not provided [RCV000234370] Chr15:89291607 [GRCh38]
Chr15:89834838 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3925-4C>T single nucleotide variant not provided [RCV000234427] Chr15:89316393 [GRCh38]
Chr15:89859624 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.2278A>G (p.Ile760Val) single nucleotide variant Fanconi anemia [RCV000228600] Chr15:89293050 [GRCh38]
Chr15:89836281 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.446-6T>G single nucleotide variant Fanconi anemia [RCV000227151] Chr15:89261815 [GRCh38]
Chr15:89805046 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.1904A>G (p.Tyr635Cys) single nucleotide variant Fanconi anemia [RCV000548119] Chr15:89291626 [GRCh38]
Chr15:89834857 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3888G>A (p.Met1296Ile) single nucleotide variant Fanconi anemia [RCV000525820] Chr15:89315353 [GRCh38]
Chr15:89858584 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
NM_001113378.1(FANCI):c.545+19C>T single nucleotide variant not specified [RCV000243527] Chr15:89263479 [GRCh38]
Chr15:89806710 [GRCh37]
Chr15:15q26.1
benign
NM_002693.2(POLG):c.3643+257T>G single nucleotide variant Fanconi anemia [RCV000274297]|Fanconi anemia, complementation group I [RCV001117758]|POLG-Related Spectrum Disorders [RCV000331693]|not provided [RCV000840517] Chr15:89317119 [GRCh38]
Chr15:89860350 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) single nucleotide variant Fanconi anemia [RCV000348737]|Fanconi anemia, complementation group I [RCV001117649]|POLG-Related Spectrum Disorders [RCV000329693]|not specified [RCV000251297] Chr15:89315371 [GRCh38]
Chr15:89858602 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) single nucleotide variant Progressive sclerosing poliodystrophy [RCV000548544]|Progressive sclerosing poliodystrophy [RCV000765232] Chr15:89316804 [GRCh38]
Chr15:89860035 [GRCh37]
Chr15:15q26.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.1698+15C>T single nucleotide variant Fanconi anemia, complementation group I [RCV000331416]|not specified [RCV000242034] Chr15:89283265 [GRCh38]
Chr15:89826496 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) single nucleotide variant Fanconi anemia [RCV000397179]|Fanconi anemia, complementation group I [RCV001094278]|not specified [RCV000252318] Chr15:89295087 [GRCh38]
Chr15:89838318 [GRCh37]
Chr15:15q26.1
benign|likely benign
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) single nucleotide variant Fanconi anemia [RCV000397172]|Fanconi anemia, complementation group I [RCV001094456]|not specified [RCV000242536] Chr15:89293908 [GRCh38]
Chr15:89837139 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) single nucleotide variant Fanconi anemia [RCV000262235]|Fanconi anemia, complementation group I [RCV001094273]|not specified [RCV000247561] Chr15:89260812 [GRCh38]
Chr15:89804043 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.288+37G>A single nucleotide variant not specified [RCV000242880] Chr15:89260880 [GRCh38]
Chr15:89804111 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) single nucleotide variant Fanconi anemia [RCV000297536]|Fanconi anemia, complementation group I [RCV001094272]|not specified [RCV000250260] Chr15:89260719 [GRCh38]
Chr15:89803950 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) single nucleotide variant Fanconi anemia [RCV000339014]|Fanconi anemia, complementation group I [RCV001094455]|not specified [RCV000250359] Chr15:89292997 [GRCh38]
Chr15:89836228 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.3006+15A>C single nucleotide variant Fanconi anemia, complementation group I [RCV000276437]|not specified [RCV000252807] Chr15:89301457 [GRCh38]
Chr15:89844688 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.824T>C (p.Ile275Thr) single nucleotide variant Fanconi anemia [RCV000529696]|Fanconi anemia, complementation group I [RCV001118938]|not provided [RCV000523947] Chr15:89268467 [GRCh38]
Chr15:89811698 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3651+19G>A single nucleotide variant not specified [RCV000248162] Chr15:89307691 [GRCh38]
Chr15:89850922 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.545+30G>A single nucleotide variant not specified [RCV000248274] Chr15:89263490 [GRCh38]
Chr15:89806721 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) single nucleotide variant Fanconi anemia [RCV000300610]|Fanconi anemia, complementation group I [RCV001094451] Chr15:89276774 [GRCh38]
Chr15:89820005 [GRCh37]
Chr15:15q26.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002693.2(POLG):c.3644-116T>C single nucleotide variant Fanconi anemia [RCV000300357]|Fanconi anemia, complementation group I [RCV001116319]|POLG-Related Spectrum Disorders [RCV000359680] Chr15:89316943 [GRCh38]
Chr15:89860174 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.*63A>G single nucleotide variant Fanconi anemia, complementation group I [RCV000300537]|POLG-Related Spectrum Disorders [RCV000355378] Chr15:89316688 [GRCh38]
Chr15:89859919 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3644-99C>T single nucleotide variant Fanconi anemia [RCV000335149]|Fanconi anemia, complementation group I [RCV001116318]|POLG-Related Spectrum Disorders [RCV000396648]|not provided [RCV000835404] Chr15:89316926 [GRCh38]
Chr15:89860157 [GRCh37]
Chr15:15q26.1
benign|likely benign|uncertain significance
NM_001113378.1(FANCI):c.2519G>A (p.Arg840His) single nucleotide variant Fanconi anemia, complementation group I [RCV000304024] Chr15:89294977 [GRCh38]
Chr15:89838208 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) single nucleotide variant Fanconi anemia [RCV000398337]|Fanconi anemia, complementation group I [RCV001094271] Chr15:89247664 [GRCh38]
Chr15:89790895 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) single nucleotide variant Fanconi anemia [RCV000268016]|Fanconi anemia, complementation group I [RCV000763985] Chr15:89261842 [GRCh38]
Chr15:89805073 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3705C>T (p.Ala1235=) single nucleotide variant Fanconi anemia, complementation group I [RCV000286695] Chr15:89312957 [GRCh38]
Chr15:89856188 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) single nucleotide variant Fanconi anemia [RCV000305871] Chr15:89278704 [GRCh38]
Chr15:89821935 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.*30G>A single nucleotide variant Fanconi anemia, complementation group I [RCV001121230]|POLG-Related Spectrum Disorders [RCV000381450]|Progressive sclerosing poliodystrophy [RCV000758402] Chr15:89316721 [GRCh38]
Chr15:89859952 [GRCh37]
Chr15:15q26.1
benign|likely benign|uncertain significance
NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) single nucleotide variant Fanconi anemia [RCV001213730]|Fanconi anemia, complementation group I [RCV000312524] Chr15:89315361 [GRCh38]
Chr15:89858592 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) single nucleotide variant Fanconi anemia, complementation group I [RCV000293402] Chr15:89268492 [GRCh38]
Chr15:89811723 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) single nucleotide variant Fanconi anemia [RCV000294568]|Fanconi anemia, complementation group I [RCV001094369] Chr15:89274303 [GRCh38]
Chr15:89817534 [GRCh37]
Chr15:15q26.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) single nucleotide variant Fanconi anemia [RCV000277965]|Fanconi anemia, complementation group I [RCV001094314] Chr15:89290247 [GRCh38]
Chr15:89833478 [GRCh37]
Chr15:15q26.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002693.2(POLG):c.3643+258A>G single nucleotide variant Fanconi anemia [RCV000328504]|Fanconi anemia, complementation group I [RCV001117757]|POLG-Related Spectrum Disorders [RCV000364559]|not provided [RCV000840824] Chr15:89317118 [GRCh38]
Chr15:89860349 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001113378.1(FANCI):c.3721-15G>A single nucleotide variant Fanconi anemia, complementation group I [RCV000341754] Chr15:89314597 [GRCh38]
Chr15:89857828 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) single nucleotide variant Fanconi anemia [RCV000263354]|Fanconi anemia, complementation group I [RCV001094373] Chr15:89305395 [GRCh38]
Chr15:89848626 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3644-72C>A single nucleotide variant Fanconi anemia [RCV000280138]|Fanconi anemia, complementation group I [RCV001116316]|POLG-Related Spectrum Disorders [RCV001116317] Chr15:89316899 [GRCh38]
Chr15:89860130 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_002693.2(POLG):c.*122G>A single nucleotide variant Fanconi anemia [RCV000354186]|Fanconi anemia, complementation group I [RCV001119231]|POLG-Related Spectrum Disorders [RCV000259330] Chr15:89316629 [GRCh38]
Chr15:89859860 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.288+10C>T single nucleotide variant Fanconi anemia, complementation group I [RCV000321878] Chr15:89260853 [GRCh38]
Chr15:89804084 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1512+3A>G single nucleotide variant Fanconi anemia, complementation group I [RCV000366280] Chr15:89281303 [GRCh38]
Chr15:89824534 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.539T>C (p.Met180Thr) single nucleotide variant Fanconi anemia, complementation group I [RCV000323121] Chr15:89263454 [GRCh38]
Chr15:89806685 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.-90T>C single nucleotide variant Fanconi anemia, complementation group I [RCV000394238] Chr15:89243963 [GRCh38]
Chr15:89787194 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) single nucleotide variant Fanconi anemia [RCV000325551]|Fanconi anemia, complementation group I [RCV001094275] Chr15:89281279 [GRCh38]
Chr15:89824510 [GRCh37]
Chr15:15q26.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) single nucleotide variant Fanconi anemia [RCV000348338]|Fanconi anemia, complementation group I [RCV001094368] Chr15:89268511 [GRCh38]
Chr15:89811742 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001113378.1(FANCI):c.3237G>A (p.Thr1079=) single nucleotide variant Fanconi anemia, complementation group I [RCV000372074] Chr15:89305391 [GRCh38]
Chr15:89848622 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1294-8C>T single nucleotide variant Fanconi anemia [RCV000397897]|Fanconi anemia, complementation group I [RCV001094453] Chr15:89278679 [GRCh38]
Chr15:89821910 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) single nucleotide variant Fanconi anemia [RCV000397895]|Fanconi anemia, complementation group I [RCV001094450] Chr15:89276712 [GRCh38]
Chr15:89819943 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_002693.2(POLG):c.*44G>C single nucleotide variant Fanconi anemia, complementation group I [RCV001121229]|POLG-Related Spectrum Disorders [RCV000326804] Chr15:89316707 [GRCh38]
Chr15:89859938 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) single nucleotide variant Fanconi anemia, complementation group I [RCV000373709] Chr15:89291622 [GRCh38]
Chr15:89834853 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.*49dupG duplication POLG-Related Spectrum Disorders [RCV000320567] Chr15:89316702 [GRCh38]
Chr15:89859933 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) single nucleotide variant Fanconi anemia [RCV000374759]|Fanconi anemia, complementation group I [RCV001094372] Chr15:89292723 [GRCh38]
Chr15:89835954 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) single nucleotide variant Fanconi anemia [RCV000309949]|Fanconi anemia, complementation group I [RCV001094279] Chr15:89299809 [GRCh38]
Chr15:89843040 [GRCh37]
Chr15:15q26.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.3400A>G (p.Ile1134Val) single nucleotide variant Fanconi anemia, complementation group I [RCV000377858] Chr15:89306057 [GRCh38]
Chr15:89849288 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.976-13A>T single nucleotide variant Fanconi anemia, complementation group I [RCV000403770] Chr15:89274155 [GRCh38]
Chr15:89817386 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) single nucleotide variant Fanconi anemia [RCV000355478]|Fanconi anemia, complementation group I [RCV001094452] Chr15:89276777 [GRCh38]
Chr15:89820008 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) single nucleotide variant Fanconi anemia [RCV000405113]|Fanconi anemia, complementation group I [RCV001094320] Chr15:89315311 [GRCh38]
Chr15:89858542 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_002693.2(POLG):c.3644-16T>C single nucleotide variant Fanconi anemia [RCV000405320]|Fanconi anemia, complementation group I [RCV001116315]|Progressive sclerosing poliodystrophy [RCV000758387]|not specified [RCV000432859] Chr15:89316843 [GRCh38]
Chr15:89860074 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_002693.2(POLG):c.*49dup duplication Fanconi anemia [RCV000265494]|POLG-Related Spectrum Disorders [RCV000320567] Chr15:89316701..89316702 [GRCh38]
Chr15:89859932..89859933 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) single nucleotide variant Fanconi anemia, complementation group I [RCV000311735]|not provided [RCV000868341] Chr15:89300352 [GRCh38]
Chr15:89843583 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) single nucleotide variant Fanconi anemia, complementation group I [RCV000356939] Chr15:89260751 [GRCh38]
Chr15:89803982 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.546-6C>T single nucleotide variant Fanconi anemia [RCV001211026]|Fanconi anemia, complementation group I [RCV000382136] Chr15:89263897 [GRCh38]
Chr15:89807128 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) single nucleotide variant Fanconi anemia [RCV000382339]|Fanconi anemia, complementation group I [RCV001094280] Chr15:89314612 [GRCh38]
Chr15:89857843 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1113-10G>C single nucleotide variant Fanconi anemia, complementation group I [RCV000335630] Chr15:89276701 [GRCh38]
Chr15:89819932 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) single nucleotide variant Fanconi anemia [RCV000360604]|Fanconi anemia, complementation group I [RCV001094454]|not specified [RCV000504421] Chr15:89278719 [GRCh38]
Chr15:89821950 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) single nucleotide variant Fanconi anemia [RCV000386353]|Fanconi anemia, complementation group I [RCV001094313] Chr15:89285198 [GRCh38]
Chr15:89828429 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) single nucleotide variant Fanconi anemia [RCV000317528]|Fanconi anemia, complementation group I [RCV001094318] Chr15:89305159 [GRCh38]
Chr15:89848390 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002693.2(POLG):c.3644-184T>C single nucleotide variant Fanconi anemia, complementation group I [RCV001117756]|POLG-Related Spectrum Disorders [RCV000363254] Chr15:89317011 [GRCh38]
Chr15:89860242 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.*614T>G single nucleotide variant Fanconi anemia, complementation group I [RCV000268741] Chr15:89317073 [GRCh38]
Chr15:89860304 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) single nucleotide variant Fanconi anemia [RCV000364663]|Fanconi anemia, complementation group I [RCV001094315] Chr15:89299931 [GRCh38]
Chr15:89843162 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3665G>A (p.Ser1222Asn) single nucleotide variant Fanconi anemia [RCV000526853] Chr15:89312917 [GRCh38]
Chr15:89856148 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.158-2A>G single nucleotide variant Fanconi anemia, complementation group I [RCV000490489] Chr15:89260711 [GRCh38]
Chr15:89803942 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_001113378.1(FANCI):c.-72C>G single nucleotide variant Fanconi anemia, complementation group I [RCV000315198] Chr15:89243981 [GRCh38]
Chr15:89787212 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3644-178_3644-176dupAGA duplication POLG-Related Spectrum Disorders [RCV000303955] Chr15:89317003..89317005 [GRCh38]
Chr15:89860234..89860236 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1890+3A>G single nucleotide variant Fanconi anemia, complementation group I [RCV000333037] Chr15:89290284 [GRCh38]
Chr15:89833515 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3247A>G (p.Thr1083Ala) single nucleotide variant Fanconi anemia, complementation group I [RCV000318623] Chr15:89305401 [GRCh38]
Chr15:89848632 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2169+12G>A single nucleotide variant Fanconi anemia, complementation group I [RCV000284986] Chr15:89292876 [GRCh38]
Chr15:89836107 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3105-11T>C single nucleotide variant Fanconi anemia [RCV000281377]|POLG-Related Spectrum Disorders [RCV000284559]|Progressive sclerosing poliodystrophy [RCV000758546]|not specified [RCV000153754] Chr15:89319110 [GRCh38]
Chr15:89862341 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001113378.1(FANCI):c.-23G>A single nucleotide variant Fanconi anemia, complementation group I [RCV000369856] Chr15:89244030 [GRCh38]
Chr15:89787261 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) single nucleotide variant Fanconi anemia, complementation group I [RCV000338856] Chr15:89292716 [GRCh38]
Chr15:89835947 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.3636+17_3636+19del microsatellite Fanconi anemia [RCV000287731] Chr15:89314720..89314722 [GRCh38]
Chr15:89857951..89857953 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.606C>T (p.Phe202=) single nucleotide variant Fanconi anemia, complementation group I [RCV000287944] Chr15:89263963 [GRCh38]
Chr15:89807194 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) single nucleotide variant Fanconi anemia [RCV000357948]|Fanconi anemia, complementation group I [RCV001094274] Chr15:89261588 [GRCh38]
Chr15:89804819 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.3745-84_3745-81dup duplication Fanconi anemia [RCV000394228]|POLG-Related Spectrum Disorders [RCV000313257] Chr15:89316309..89316310 [GRCh38]
Chr15:89859540..89859541 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) single nucleotide variant Association with valproate-induced liver toxicity [RCV000999632]|Fanconi anemia [RCV000386578]|Mitochondrial diseases [RCV000020476]|POLG-Related Spectrum Disorders [RCV001119316]|Progressive sclerosing poliodystrophy [RCV000469563]|Progressive sclerosing poliodystrophy [RCV000755650]|Seizures [RCV000715555]|none provided [RCV001283131]|not provided [RCV000676317]|not specified [RCV000118018] Chr15:89318595 [GRCh38]
Chr15:89861826 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) single nucleotide variant Fanconi anemia [RCV000338726]|POLG-Related Spectrum Disorders [RCV000341944]|Progressive sclerosing poliodystrophy [RCV000467151]|Seizures [RCV000715617]|none provided [RCV001282629]|not provided [RCV000676320]|not specified [RCV000118015] Chr15:89320789 [GRCh38]
Chr15:89864020 [GRCh37]
Chr15:15q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_002693.2(POLG):c.*438_*441dupATCT duplication POLG-Related Spectrum Disorders [RCV000313257] Chr15:89316310..89316313 [GRCh38]
Chr15:89859541..89859544 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3644-178_3644-176dup duplication Fanconi anemia [RCV000396655]|POLG-Related Spectrum Disorders [RCV000303955] Chr15:89317002..89317003 [GRCh38]
Chr15:89860233..89860234 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3816+15A>T single nucleotide variant Fanconi anemia [RCV000347620]|Fanconi anemia, complementation group I [RCV001117647]|POLG-Related Spectrum Disorders [RCV000295709] Chr15:89314722 [GRCh38]
Chr15:89857953 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001113378.1(FANCI):c.328A>G (p.Asn110Asp) single nucleotide variant not provided [RCV000519865] Chr15:89261624 [GRCh38]
Chr15:89804855 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.669+17_669+18del deletion Fanconi anemia [RCV000328875] Chr15:89264042..89264043 [GRCh38]
Chr15:89807273..89807274 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) single nucleotide variant Fanconi anemia, complementation group I [RCV001120904] Chr15:89276861 [GRCh38]
Chr15:89820092 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile) single nucleotide variant Fanconi anemia [RCV001202148]|Fanconi anemia, complementation group I [RCV001121006] Chr15:89292957 [GRCh38]
Chr15:89836188 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1810A>G (p.Met604Val) single nucleotide variant Fanconi anemia [RCV000527436] Chr15:89285207 [GRCh38]
Chr15:89828438 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2520C>G (p.Arg840=) single nucleotide variant Fanconi anemia [RCV000531769] Chr15:89294978 [GRCh38]
Chr15:89838209 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2203A>G (p.Ile735Val) single nucleotide variant Fanconi anemia [RCV000554248]|Fanconi anemia, complementation group I [RCV000765225] Chr15:89292975 [GRCh38]
Chr15:89836206 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2326A>G (p.Met776Val) single nucleotide variant Fanconi anemia [RCV000699113]|not provided [RCV000522385] Chr15:89293867 [GRCh38]
Chr15:89837098 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2318G>A (p.Ser773Asn) single nucleotide variant Fanconi anemia [RCV000532557] Chr15:89293859 [GRCh38]
Chr15:89837090 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.1950T>A (p.Cys650Ter) single nucleotide variant not provided [RCV000722851] Chr15:89291672 [GRCh38]
Chr15:89834903 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
NM_001113378.1(FANCI):c.2026G>T (p.Ala676Ser) single nucleotide variant Fanconi anemia [RCV000541408] Chr15:89292721 [GRCh38]
Chr15:89835952 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3680C>A (p.Thr1227Asn) single nucleotide variant Progressive sclerosing poliodystrophy [RCV000758338]|not provided [RCV000734457] Chr15:89316791 [GRCh38]
Chr15:89860022 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1735G>A (p.Ala579Thr) single nucleotide variant Fanconi anemia [RCV000537549] Chr15:89285132 [GRCh38]
Chr15:89828363 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1850C>G (p.Ser617Cys) single nucleotide variant Fanconi anemia [RCV000537611]|Fanconi anemia, complementation group I [RCV000765223] Chr15:89290241 [GRCh38]
Chr15:89833472 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.394A>G (p.Ile132Val) single nucleotide variant Fanconi anemia [RCV000555553] Chr15:89261690 [GRCh38]
Chr15:89804921 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.290C>T (p.Ala97Val) single nucleotide variant Fanconi anemia [RCV000535517] Chr15:89261586 [GRCh38]
Chr15:89804817 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1727A>G (p.Asn576Ser) single nucleotide variant Fanconi anemia [RCV000558988] Chr15:89285124 [GRCh38]
Chr15:89828355 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.3007-2A>T single nucleotide variant not provided [RCV000723035] Chr15:89305339 [GRCh38]
Chr15:89848570 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
NM_001113378.1(FANCI):c.2519G>T (p.Arg840Leu) single nucleotide variant Fanconi anemia [RCV000553208] Chr15:89294977 [GRCh38]
Chr15:89838208 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) single nucleotide variant Fanconi anemia [RCV001086071]|Fanconi anemia, complementation group I [RCV001117440]|not provided [RCV000443415] Chr15:89291615 [GRCh38]
Chr15:89834846 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_002693.2(POLG):c.*4T>C single nucleotide variant not specified [RCV000431158] Chr15:89316747 [GRCh38]
Chr15:89859978 [GRCh37]
Chr15:15q26.1
likely benign
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 copy number loss See cases [RCV000448680] Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1
pathogenic
NM_001113378.1(FANCI):c.2023T>C (p.Leu675=) single nucleotide variant Fanconi anemia [RCV000473908] Chr15:89292718 [GRCh38]
Chr15:89835949 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.1704T>C (p.His568=) single nucleotide variant Fanconi anemia [RCV000459160] Chr15:89285101 [GRCh38]
Chr15:89828332 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3525C>A (p.Ala1175=) single nucleotide variant Fanconi anemia [RCV000462978]|Fanconi anemia, complementation group I [RCV001121116]|not specified [RCV000503400] Chr15:89306182 [GRCh38]
Chr15:89849413 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg) single nucleotide variant Fanconi anemia [RCV000466767]|Fanconi anemia, complementation group I [RCV001119038] Chr15:89291685 [GRCh38]
Chr15:89834916 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.1412C>G (p.Pro471Arg) single nucleotide variant Fanconi anemia [RCV000466858]|Fanconi anemia, complementation group I [RCV000763988]|not provided [RCV000658083] Chr15:89281200 [GRCh38]
Chr15:89824431 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala) single nucleotide variant Fanconi anemia [RCV000470517]|Fanconi anemia, complementation group I [RCV001115869] Chr15:89260713 [GRCh38]
Chr15:89803944 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.2507A>G (p.Asn836Ser) single nucleotide variant Fanconi anemia [RCV000463193]|Fanconi anemia, complementation group I [RCV001121010] Chr15:89294965 [GRCh38]
Chr15:89838196 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1102G>A (p.Val368Met) single nucleotide variant Fanconi anemia [RCV000463194] Chr15:89274294 [GRCh38]
Chr15:89817525 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter) single nucleotide variant Fanconi anemia [RCV000467025] Chr15:89314671 [GRCh38]
Chr15:89857902 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.1(FANCI):c.528A>G (p.Gln176=) single nucleotide variant Fanconi anemia [RCV000459556]|Fanconi anemia, complementation group I [RCV001117325] Chr15:89263443 [GRCh38]
Chr15:89806674 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.3660T>C (p.Ser1220=) single nucleotide variant Fanconi anemia [RCV000463423]|Fanconi anemia, complementation group I [RCV001116207] Chr15:89312912 [GRCh38]
Chr15:89856143 [GRCh37]
Chr15:15q26.1
benign|uncertain significance
NM_001113378.1(FANCI):c.1564C>T (p.Arg522Trp) single nucleotide variant Fanconi anemia [RCV000474593] Chr15:89281816 [GRCh38]
Chr15:89825047 [GRCh37]
Chr15:15q26.1
uncertain significance
NC_000015.10:g.(?_89247629)_(89317131_?)del deletion Fanconi anemia [RCV000474762] Chr15:89247629..89317131 [GRCh38]
Chr15:89790860..89860362 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.1(FANCI):c.2033A>G (p.Tyr678Cys) single nucleotide variant Fanconi anemia [RCV000470006] Chr15:89292728 [GRCh38]
Chr15:89835959 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2204T>C (p.Ile735Thr) single nucleotide variant Fanconi anemia [RCV000471427] Chr15:89292976 [GRCh38]
Chr15:89836207 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1699-7C>A single nucleotide variant Fanconi anemia [RCV000471365]|Fanconi anemia, complementation group I [RCV001115980] Chr15:89285089 [GRCh38]
Chr15:89828320 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.1699-3C>G single nucleotide variant Fanconi anemia [RCV000456710] Chr15:89285093 [GRCh38]
Chr15:89828324 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) single nucleotide variant Fanconi anemia [RCV000460384]|Fanconi anemia, complementation group I [RCV000502163] Chr15:89281249 [GRCh38]
Chr15:89824480 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.1(FANCI):c.3706G>A (p.Val1236Ile) single nucleotide variant Fanconi anemia [RCV000467934]|Fanconi anemia, complementation group A [RCV000989378] Chr15:89312958 [GRCh38]
Chr15:89856189 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.83A>G (p.Asp28Gly) single nucleotide variant Fanconi anemia [RCV000471618] Chr15:89247730 [GRCh38]
Chr15:89790961 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2434A>G (p.Ser812Gly) single nucleotide variant Fanconi anemia [RCV000475763]|Fanconi anemia, complementation group I [RCV000765226] Chr15:89293975 [GRCh38]
Chr15:89837206 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1923G>A (p.Leu641=) single nucleotide variant not provided [RCV000475808] Chr15:89291645 [GRCh38]
Chr15:89834876 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3493del (p.Asp1165fs) deletion Fanconi anemia [RCV000457201]|Fanconi anemia, complementation group I [RCV001194983] Chr15:89306149 [GRCh38]
Chr15:89849380 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.1(FANCI):c.2813A>G (p.Asp938Gly) single nucleotide variant Fanconi anemia [RCV000475877] Chr15:89300309 [GRCh38]
Chr15:89843540 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1355C>T (p.Ala452Val) single nucleotide variant not provided [RCV000485704] Chr15:89278748 [GRCh38]
Chr15:89821979 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2781T>G (p.Ile927Met) single nucleotide variant Fanconi anemia [RCV000457383] Chr15:89299944 [GRCh38]
Chr15:89843175 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2017C>T (p.His673Tyr) single nucleotide variant Fanconi anemia [RCV000472349] Chr15:89292712 [GRCh38]
Chr15:89835943 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2131A>T (p.Asn711Tyr) single nucleotide variant Fanconi anemia [RCV000465099] Chr15:89292826 [GRCh38]
Chr15:89836057 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1264G>A (p.Gly422Arg) single nucleotide variant Fanconi anemia [RCV000472649]|Fanconi anemia, complementation group I [RCV001194992] Chr15:89276862 [GRCh38]
Chr15:89820093 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3868A>G (p.Lys1290Glu) single nucleotide variant Fanconi anemia [RCV000476438] Chr15:89315333 [GRCh38]
Chr15:89858564 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1564C>A (p.Arg522=) single nucleotide variant Fanconi anemia [RCV000461592] Chr15:89281816 [GRCh38]
Chr15:89825047 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1278G>T (p.Leu426=) single nucleotide variant Fanconi anemia [RCV000461745] Chr15:89276876 [GRCh38]
Chr15:89820107 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) single nucleotide variant Fanconi anemia [RCV000476737]|Fanconi anemia, complementation group I [RCV000765231] Chr15:89316418 [GRCh38]
Chr15:89859649 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2406T>C (p.Asp802=) single nucleotide variant Fanconi anemia [RCV000461896]|Fanconi anemia, complementation group I [RCV001121008] Chr15:89293947 [GRCh38]
Chr15:89837178 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.2097C>T (p.Tyr699=) single nucleotide variant Fanconi anemia [RCV000458350]|not specified [RCV000502848] Chr15:89292792 [GRCh38]
Chr15:89836023 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.1112+3A>G single nucleotide variant Fanconi anemia [RCV000458366] Chr15:89274307 [GRCh38]
Chr15:89817538 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2936G>T (p.Ser979Ile) single nucleotide variant Fanconi anemia [RCV000462123] Chr15:89301372 [GRCh38]
Chr15:89844603 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1654A>C (p.Ser552Arg) single nucleotide variant Fanconi anemia [RCV000477159] Chr15:89283206 [GRCh38]
Chr15:89826437 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys) inversion Fanconi anemia [RCV000458468] Chr15:89315371..89315372 [GRCh38]
Chr15:89858602..89858603 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1656C>G (p.Ser552Arg) single nucleotide variant Fanconi anemia [RCV000462307] Chr15:89283208 [GRCh38]
Chr15:89826439 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.326C>G (p.Ala109Gly) single nucleotide variant Fanconi anemia [RCV000466037]|Microcephaly [RCV001252857] Chr15:89261622 [GRCh38]
Chr15:89804853 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2960C>T (p.Thr987Met) single nucleotide variant Fanconi anemia [RCV000469963]|Fanconi anemia, complementation group I [RCV000765228] Chr15:89301396 [GRCh38]
Chr15:89844627 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1200T>C (p.Asp400=) single nucleotide variant Fanconi anemia [RCV000470108] Chr15:89276798 [GRCh38]
Chr15:89820029 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.550G>C (p.Val184Leu) single nucleotide variant Fanconi anemia [RCV000801500]|not specified [RCV000500866] Chr15:89263907 [GRCh38]
Chr15:89807138 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2481A>T (p.Glu827Asp) single nucleotide variant not specified [RCV000501253] Chr15:89294939 [GRCh38]
Chr15:89838170 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1534T>G (p.Ser512Ala) single nucleotide variant not specified [RCV000503633] Chr15:89281786 [GRCh38]
Chr15:89825017 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3721-7C>T single nucleotide variant not provided [RCV000865535]|not specified [RCV000503913] Chr15:89314605 [GRCh38]
Chr15:89857836 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.3419C>T (p.Thr1140Ile) single nucleotide variant Fanconi anemia [RCV001223238]|not specified [RCV000501811] Chr15:89306076 [GRCh38]
Chr15:89849307 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.451C>G (p.Leu151Val) single nucleotide variant not specified [RCV000503920] Chr15:89261826 [GRCh38]
Chr15:89805057 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) single nucleotide variant Fanconi anemia [RCV000550556]|not specified [RCV000499688] Chr15:89303912 [GRCh38]
Chr15:89847143 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.3505A>G (p.Met1169Val) single nucleotide variant not specified [RCV000501944] Chr15:89306162 [GRCh38]
Chr15:89849393 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2349C>A (p.Asp783Glu) single nucleotide variant not specified [RCV000499788] Chr15:89293890 [GRCh38]
Chr15:89837121 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1241C>T (p.Pro414Leu) single nucleotide variant not specified [RCV000502333] Chr15:89276839 [GRCh38]
Chr15:89820070 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.96_98del (p.Leu33del) deletion not specified [RCV000500055] Chr15:89258713..89258715 [GRCh38]
Chr15:89801944..89801946 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3656A>G (p.Asp1219Gly) single nucleotide variant Progressive sclerosing poliodystrophy [RCV001039436]|not provided [RCV000497988] Chr15:89316815 [GRCh38]
Chr15:89860046 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_001113378.1(FANCI):c.2833G>C (p.Glu945Gln) single nucleotide variant Fanconi anemia [RCV000630843]|not specified [RCV000502874] Chr15:89300329 [GRCh38]
Chr15:89843560 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2547= (p.Lys849=) single nucleotide variant Fanconi anemia [RCV000860197]|not specified [RCV000508540] Chr15:89295005 [GRCh38]
Chr15:89838236 [GRCh37]
Chr15:15q26.1
benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3
likely pathogenic
NM_001113378.1(FANCI):c.406G>A (p.Ala136Thr) single nucleotide variant Fanconi anemia [RCV000699115] Chr15:89261702 [GRCh38]
Chr15:89804933 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3886A>G (p.Met1296Val) single nucleotide variant Fanconi anemia [RCV000630854] Chr15:89315351 [GRCh38]
Chr15:89858582 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3384G>A (p.Gln1128=) single nucleotide variant Fanconi anemia [RCV000630978] Chr15:89306041 [GRCh38]
Chr15:89849272 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.1703A>G (p.His568Arg) single nucleotide variant Fanconi anemia [RCV000631005]|Fanconi anemia, complementation group I [RCV001115981] Chr15:89285100 [GRCh38]
Chr15:89828331 [GRCh37]
Chr15:15q26.1
benign|likely benign|uncertain significance
NM_001113378.1(FANCI):c.1294-9_1294-8insA insertion Fanconi anemia [RCV000631034] Chr15:89278678..89278679 [GRCh38]
Chr15:89821909..89821910 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.756-4T>G single nucleotide variant Fanconi anemia [RCV000555933] Chr15:89268395 [GRCh38]
Chr15:89811626 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.2348A>G (p.Asp783Gly) single nucleotide variant Fanconi anemia [RCV000630957] Chr15:89293889 [GRCh38]
Chr15:89837120 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1939T>C (p.Leu647=) single nucleotide variant Fanconi anemia [RCV000630965]|Fanconi anemia, complementation group I [RCV001119037] Chr15:89291661 [GRCh38]
Chr15:89834892 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.3834C>T (p.His1278=) single nucleotide variant Fanconi anemia [RCV000631025] Chr15:89315299 [GRCh38]
Chr15:89858530 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3652-9T>C single nucleotide variant Fanconi anemia [RCV000631030] Chr15:89312895 [GRCh38]
Chr15:89856126 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.670-8_670-6del deletion Fanconi anemia [RCV000539796] Chr15:89264512..89264514 [GRCh38]
Chr15:89807743..89807745 [GRCh37]
Chr15:15q26.1
likely benign
NM_018193.3(FANCI):c.557T>C (p.Leu186Pro) single nucleotide variant Fanconi anemia, complementation group I [RCV000767960] Chr15:89263914 [GRCh38]
Chr15:89807145 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3832C>T (p.His1278Tyr) single nucleotide variant Fanconi anemia [RCV000541605]|Fanconi anemia, complementation group I [RCV001117648] Chr15:89315297 [GRCh38]
Chr15:89858528 [GRCh37]
Chr15:15q26.1
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_001113378.1(FANCI):c.2817G>T (p.Lys939Asn) single nucleotide variant Fanconi anemia [RCV000556834]|not specified [RCV001194161] Chr15:89300313 [GRCh38]
Chr15:89843544 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.3310A>C (p.Thr1104Pro) single nucleotide variant Fanconi anemia [RCV000534723] Chr15:89305659 [GRCh38]
Chr15:89848890 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3716del (p.Pro1239fs) deletion Progressive sclerosing poliodystrophy [RCV000633555] Chr15:89316755 [GRCh38]
Chr15:89859986 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.793C>T (p.Arg265Cys) single nucleotide variant Fanconi anemia [RCV000630835] Chr15:89268436 [GRCh38]
Chr15:89811667 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1556T>C (p.Leu519Pro) single nucleotide variant Fanconi anemia [RCV000630887] Chr15:89281808 [GRCh38]
Chr15:89825039 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1420C>A (p.Leu474Ile) single nucleotide variant Fanconi anemia [RCV000630919] Chr15:89281208 [GRCh38]
Chr15:89824439 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1655G>A (p.Ser552Asn) single nucleotide variant Fanconi anemia [RCV000630842] Chr15:89283207 [GRCh38]
Chr15:89826438 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.504-3C>T single nucleotide variant Fanconi anemia [RCV000630886] Chr15:89263416 [GRCh38]
Chr15:89806647 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.2675_2689delinsTTG (p.Thr892_Phe897delinsIleVal) indel Fanconi anemia [RCV000630921] Chr15:89300351..89300365 [GRCh38]
Chr15:89843582..89843596 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3947G>A (p.Gly1316Glu) single nucleotide variant Fanconi anemia [RCV000540824]|not provided [RCV000658723] Chr15:89316419 [GRCh38]
Chr15:89859650 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.2063G>T (p.Gly688Val) single nucleotide variant Fanconi anemia [RCV000556110] Chr15:89292758 [GRCh38]
Chr15:89835989 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1676G>T (p.Ser559Ile) single nucleotide variant Fanconi anemia [RCV000533835] Chr15:89283228 [GRCh38]
Chr15:89826459 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2907A>C (p.Leu969Phe) single nucleotide variant Fanconi anemia [RCV000557194] Chr15:89301343 [GRCh38]
Chr15:89844574 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3652-6C>G single nucleotide variant Fanconi anemia [RCV000630866] Chr15:89312898 [GRCh38]
Chr15:89856129 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3428C>T (p.Thr1143Ile) single nucleotide variant Fanconi anemia [RCV000630884] Chr15:89306085 [GRCh38]
Chr15:89849316 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3652-10A>G single nucleotide variant Fanconi anemia [RCV000631035]|Fanconi anemia, complementation group I [RCV001121122] Chr15:89312894 [GRCh38]
Chr15:89856125 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.1(FANCI):c.284T>A (p.Leu95Gln) single nucleotide variant Fanconi anemia [RCV000536573] Chr15:89260839 [GRCh38]
Chr15:89804070 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2183A>G (p.Asp728Gly) single nucleotide variant Fanconi anemia [RCV000540362]|Fanconi anemia, complementation group I [RCV001121005] Chr15:89292955 [GRCh38]
Chr15:89836186 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1822-7del deletion Fanconi anemia [RCV000631016] Chr15:89290205 [GRCh38]
Chr15:89833436 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3900G>C (p.Glu1300Asp) single nucleotide variant Fanconi anemia [RCV000630826] Chr15:89315365 [GRCh38]
Chr15:89858596 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2300G>T (p.Arg767Met) single nucleotide variant Fanconi anemia [RCV000630838] Chr15:89293841 [GRCh38]
Chr15:89837072 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2992C>T (p.Pro998Ser) single nucleotide variant Fanconi anemia [RCV000630845]|Fanconi anemia, complementation group I [RCV000765229] Chr15:89301428 [GRCh38]
Chr15:89844659 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3377C>G (p.Pro1126Arg) single nucleotide variant Fanconi anemia [RCV000630864] Chr15:89306034 [GRCh38]
Chr15:89849265 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2849G>T (p.Ser950Ile) single nucleotide variant Fanconi anemia [RCV000630926] Chr15:89300345 [GRCh38]
Chr15:89843576 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.157+7A>G single nucleotide variant Fanconi anemia [RCV000630935] Chr15:89258783 [GRCh38]
Chr15:89802014 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3056G>A (p.Arg1019Gln) single nucleotide variant Fanconi anemia [RCV000685878] Chr15:89303913 [GRCh38]
Chr15:89847144 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
NM_002693.2(POLG):c.3662A>C (p.Tyr1221Ser) single nucleotide variant not provided [RCV000712806] Chr15:89316809 [GRCh38]
Chr15:89860040 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2614C>G (p.Gln872Glu) single nucleotide variant Fanconi anemia [RCV000698535]|Fanconi anemia, complementation group I [RCV000765227] Chr15:89295072 [GRCh38]
Chr15:89838303 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3186+3A>G single nucleotide variant Fanconi anemia [RCV000698985] Chr15:89305245 [GRCh38]
Chr15:89848476 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.217A>T (p.Ile73Phe) single nucleotide variant Fanconi anemia [RCV000707454] Chr15:89260772 [GRCh38]
Chr15:89804003 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3499T>G (p.Cys1167Gly) single nucleotide variant Fanconi anemia [RCV000704943]|Fanconi anemia, complementation group I [RCV000765230] Chr15:89306156 [GRCh38]
Chr15:89849387 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1418T>G (p.Val473Gly) single nucleotide variant Fanconi anemia [RCV000705220] Chr15:89281206 [GRCh38]
Chr15:89824437 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3712G>C (p.Gly1238Arg) single nucleotide variant Progressive sclerosing poliodystrophy [RCV000699336] Chr15:89316759 [GRCh38]
Chr15:89859990 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3435C>G (p.Phe1145Leu) single nucleotide variant Fanconi anemia [RCV000689360] Chr15:89306092 [GRCh38]
Chr15:89849323 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1765G>A (p.Asp589Asn) single nucleotide variant Fanconi anemia [RCV000700338] Chr15:89285162 [GRCh38]
Chr15:89828393 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2071G>A (p.Glu691Lys) single nucleotide variant Fanconi anemia [RCV000692972]|Fanconi anemia, complementation group I [RCV000765224] Chr15:89292766 [GRCh38]
Chr15:89835997 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1739A>G (p.Asn580Ser) single nucleotide variant Fanconi anemia [RCV000693233] Chr15:89285136 [GRCh38]
Chr15:89828367 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3053G>A (p.Ser1018Asn) single nucleotide variant Fanconi anemia [RCV000693310] Chr15:89303910 [GRCh38]
Chr15:89847141 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.92A>G (p.Asn31Ser) single nucleotide variant Fanconi anemia [RCV000690795] Chr15:89258711 [GRCh38]
Chr15:89801942 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.3482del (p.Lys1161fs) deletion Fanconi anemia [RCV000705229] Chr15:89312913 [GRCh38]
Chr15:89856144 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.1(FANCI):c.3255T>G (p.Cys1085Trp) single nucleotide variant Fanconi anemia [RCV000689000] Chr15:89305409 [GRCh38]
Chr15:89848640 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2098G>A (p.Glu700Lys) single nucleotide variant Fanconi anemia [RCV000705998] Chr15:89292793 [GRCh38]
Chr15:89836024 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2455A>G (p.Arg819Gly) single nucleotide variant Fanconi anemia [RCV000691970] Chr15:89293996 [GRCh38]
Chr15:89837227 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.919C>T (p.Pro307Ser) single nucleotide variant Fanconi anemia [RCV000697107]|Fanconi anemia, complementation group I [RCV000763986] Chr15:89273413 [GRCh38]
Chr15:89816644 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2273T>G (p.Phe758Cys) single nucleotide variant Fanconi anemia [RCV000706375] Chr15:89293045 [GRCh38]
Chr15:89836276 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2393A>G (p.Asn798Ser) single nucleotide variant Fanconi anemia [RCV000706377] Chr15:89293934 [GRCh38]
Chr15:89837165 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.2332dup (p.Tyr778fs) duplication not provided [RCV000722907] Chr15:89293871..89293872 [GRCh38]
Chr15:89837102..89837103 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_001113378.2(FANCI):c.883-9C>T single nucleotide variant Fanconi anemia [RCV000938698] Chr15:89273368 [GRCh38]
Chr15:89816599 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val) single nucleotide variant Fanconi anemia [RCV001065643] Chr15:89263424 [GRCh38]
Chr15:89806655 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys) single nucleotide variant Fanconi anemia [RCV001044865] Chr15:89261838 [GRCh38]
Chr15:89805069 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=) single nucleotide variant Fanconi anemia, complementation group I [RCV001116208] Chr15:89312939 [GRCh38]
Chr15:89856170 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met) single nucleotide variant Fanconi anemia, complementation group I [RCV001116211] Chr15:89314700 [GRCh38]
Chr15:89857931 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr) single nucleotide variant Fanconi anemia, complementation group I [RCV001117533] Chr15:89301413 [GRCh38]
Chr15:89844644 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.363A>G (p.Leu121=) single nucleotide variant not provided [RCV000929426] Chr15:89261659 [GRCh38]
Chr15:89804890 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.1146C>T (p.Leu382=) single nucleotide variant not provided [RCV000919768] Chr15:89276744 [GRCh38]
Chr15:89819975 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.755+9T>C single nucleotide variant not provided [RCV000869393] Chr15:89264616 [GRCh38]
Chr15:89807847 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=) single nucleotide variant not provided [RCV000863396] Chr15:89305170 [GRCh38]
Chr15:89848401 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3165G>A (p.Gly1055=) single nucleotide variant not provided [RCV000936818] Chr15:89305221 [GRCh38]
Chr15:89848452 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.1821+9G>A single nucleotide variant not provided [RCV000877095] Chr15:89285227 [GRCh38]
Chr15:89828458 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3330G>A (p.Val1110=) single nucleotide variant not provided [RCV000926627] Chr15:89305679 [GRCh38]
Chr15:89848910 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3210C>T (p.Asn1070=) single nucleotide variant not provided [RCV000865852] Chr15:89305364 [GRCh38]
Chr15:89848595 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) single nucleotide variant Fanconi anemia [RCV000868876]|Fanconi anemia, complementation group I [RCV001120905] Chr15:89281186 [GRCh38]
Chr15:89824417 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001113378.2(FANCI):c.558G>C (p.Leu186=) single nucleotide variant not provided [RCV000929007] Chr15:89263915 [GRCh38]
Chr15:89807146 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.976-5T>C single nucleotide variant Fanconi anemia [RCV000871773] Chr15:89274163 [GRCh38]
Chr15:89817394 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3256-9T>C single nucleotide variant not provided [RCV000866204] Chr15:89305596 [GRCh38]
Chr15:89848827 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3538-2A>T single nucleotide variant Fanconi anemia [RCV001053088] Chr15:89307474 [GRCh38]
Chr15:89850705 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser) single nucleotide variant Fanconi anemia [RCV001053243] Chr15:89299815 [GRCh38]
Chr15:89843046 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg) single nucleotide variant Fanconi anemia [RCV001071618] Chr15:89261600 [GRCh38]
Chr15:89804831 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro) single nucleotide variant Fanconi anemia [RCV001059477] Chr15:89281253 [GRCh38]
Chr15:89824484 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe) single nucleotide variant Fanconi anemia [RCV001048382] Chr15:89305408 [GRCh38]
Chr15:89848639 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.*339dup duplication Progressive sclerosing poliodystrophy [RCV000758491] Chr15:89316797..89316798 [GRCh38]
Chr15:89860028..89860029 [GRCh37]
Chr15:15q26.1
pathogenic
NM_018193.3(FANCI):c.1743A>C (p.Glu581Asp) single nucleotide variant Fanconi anemia, complementation group I [RCV000767961] Chr15:89285140 [GRCh38]
Chr15:89828371 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.150C>T (p.Ile50=) single nucleotide variant not provided [RCV000933010] Chr15:89258769 [GRCh38]
Chr15:89802000 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) single nucleotide variant not provided [RCV000875784] Chr15:89293875 [GRCh38]
Chr15:89837106 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.324A>G (p.Leu108=) single nucleotide variant not provided [RCV000914686] Chr15:89261620 [GRCh38]
Chr15:89804851 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3720+10T>C single nucleotide variant not provided [RCV000871623] Chr15:89312982 [GRCh38]
Chr15:89856213 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.1112+8G>C single nucleotide variant not provided [RCV000872321] Chr15:89274312 [GRCh38]
Chr15:89817543 [GRCh37]
Chr15:15q26.1
likely benign
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1
pathogenic
NM_001113378.2(FANCI):c.669+8T>C single nucleotide variant Fanconi anemia [RCV000958381] Chr15:89264034 [GRCh38]
Chr15:89807265 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.956T>C (p.Ile319Thr) single nucleotide variant Fanconi anemia [RCV000792994] Chr15:89273450 [GRCh38]
Chr15:89816681 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2776A>C (p.Lys926Gln) single nucleotide variant Fanconi anemia [RCV000797203] Chr15:89299939 [GRCh38]
Chr15:89843170 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3965C>T (p.Ala1322Val) single nucleotide variant Fanconi anemia [RCV000817573] Chr15:89316437 [GRCh38]
Chr15:89859668 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1972A>T (p.Ile658Phe) single nucleotide variant Fanconi anemia [RCV000823437] Chr15:89291694 [GRCh38]
Chr15:89834925 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3977G>T (p.Arg1326Met) single nucleotide variant Fanconi anemia [RCV000803126] Chr15:89316449 [GRCh38]
Chr15:89859680 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3466G>C (p.Gly1156Arg) single nucleotide variant Fanconi anemia [RCV000794419]|Fanconi anemia, complementation group I [RCV001270866] Chr15:89306123 [GRCh38]
Chr15:89849354 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3016A>G (p.Met1006Val) single nucleotide variant Fanconi anemia [RCV000816413] Chr15:89303873 [GRCh38]
Chr15:89847104 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1867G>A (p.Val623Ile) single nucleotide variant Fanconi anemia [RCV000824459] Chr15:89290258 [GRCh38]
Chr15:89833489 [GRCh37]
Chr15:15q26.1
uncertain significance
NC_000015.10:g.(?_89290203)_(89291724_?)del deletion Fanconi anemia [RCV000807254] Chr15:89290203..89291724 [GRCh38]
Chr15:89833434..89834955 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.3489_3492dup (p.Tyr1165fs) duplication Fanconi anemia [RCV000814808] Chr15:89312920..89312921 [GRCh38]
Chr15:89856151..89856152 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.1(FANCI):c.1250A>G (p.His417Arg) single nucleotide variant Fanconi anemia [RCV000800222] Chr15:89276848 [GRCh38]
Chr15:89820079 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2:c.3643+257T>G single nucleotide variant not provided [RCV000840517] Chr15:89860350 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del) microsatellite Fanconi anemia [RCV000791702] Chr15:89274219..89274221 [GRCh38]
Chr15:89817450..89817452 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3643+226C>G single nucleotide variant not provided [RCV000836906] Chr15:89317150 [GRCh38]
Chr15:89860381 [GRCh37]
Chr15:15q26.1
benign
NM_001113378.1(FANCI):c.3283G>A (p.Val1095Ile) single nucleotide variant Fanconi anemia [RCV000803983] Chr15:89305632 [GRCh38]
Chr15:89848863 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2:c.3644-99C>T single nucleotide variant not provided [RCV000835404] Chr15:89860157 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3674A>G (p.Tyr1225Cys) single nucleotide variant Fanconi anemia [RCV000818806] Chr15:89312926 [GRCh38]
Chr15:89856157 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3220A>T (p.Ile1074Leu) single nucleotide variant Fanconi anemia [RCV000806833] Chr15:89305374 [GRCh38]
Chr15:89848605 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.329A>G (p.Asn110Ser) single nucleotide variant Fanconi anemia [RCV000804125] Chr15:89261625 [GRCh38]
Chr15:89804856 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.475C>G (p.Gln159Glu) single nucleotide variant Fanconi anemia [RCV000807175] Chr15:89261850 [GRCh38]
Chr15:89805081 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_018193.3(FANCI):c.2815_2819TCCTC[1] (p.Pro941fs) microsatellite Fanconi anemia [RCV000807393] Chr15:89301430..89301434 [GRCh38]
Chr15:89844661..89844665 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.1(FANCI):c.2533G>A (p.Val845Ile) single nucleotide variant Fanconi anemia [RCV000791661] Chr15:89294991 [GRCh38]
Chr15:89838222 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3505A>T (p.Met1169Leu) single nucleotide variant Fanconi anemia [RCV000824155] Chr15:89306162 [GRCh38]
Chr15:89849393 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q26.1(chr15:89828317-89874912)x1 copy number loss not provided [RCV000847319] Chr15:89828317..89874912 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1531A>C (p.Met511Leu) single nucleotide variant Fanconi anemia [RCV000818536] Chr15:89281783 [GRCh38]
Chr15:89825014 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2:c.3643+258A>G single nucleotide variant not provided [RCV000840824] Chr15:89860349 [GRCh37]
Chr15:15q26.1
benign
NM_002693.3(POLG):c.*420A>G single nucleotide variant POLG-Related Spectrum Disorders [RCV001117652] Chr15:89316331 [GRCh38]
Chr15:89859562 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser) single nucleotide variant Fanconi anemia [RCV001067213] Chr15:89281765 [GRCh38]
Chr15:89824996 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu) single nucleotide variant Fanconi anemia, complementation group I [RCV001116090] Chr15:89295047 [GRCh38]
Chr15:89838278 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3187-3C>G single nucleotide variant Fanconi anemia [RCV001046225] Chr15:89305338 [GRCh38]
Chr15:89848569 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.2(POLG):c.3643+180G>A single nucleotide variant Progressive sclerosing poliodystrophy [RCV000758413]|not provided [RCV000826748] Chr15:89317196 [GRCh38]
Chr15:89860427 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg) single nucleotide variant Fanconi anemia, complementation group I [RCV001119130] Chr15:89306100 [GRCh38]
Chr15:89849331 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) single nucleotide variant Fanconi anemia, complementation group I [RCV001118940] Chr15:89274244 [GRCh38]
Chr15:89817475 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3162C>T (p.His1054=) single nucleotide variant Fanconi anemia, complementation group I [RCV001119127] Chr15:89305218 [GRCh38]
Chr15:89848449 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.696A>T (p.Gly232=) single nucleotide variant Fanconi anemia, complementation group I [RCV001117327] Chr15:89264548 [GRCh38]
Chr15:89807779 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2845G>A (p.Val949Ile) single nucleotide variant Fanconi anemia [RCV000806618] Chr15:89300341 [GRCh38]
Chr15:89843572 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.488C>A (p.Thr163Asn) single nucleotide variant Fanconi anemia [RCV000795911] Chr15:89261863 [GRCh38]
Chr15:89805094 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3677C>T (p.Thr1226Met) single nucleotide variant Fanconi anemia [RCV000802051] Chr15:89312929 [GRCh38]
Chr15:89856160 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.1891-3C>T single nucleotide variant Fanconi anemia [RCV000822522] Chr15:89291610 [GRCh38]
Chr15:89834841 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3918T>G (p.Asn1306Lys) single nucleotide variant Fanconi anemia [RCV000813245] Chr15:89315383 [GRCh38]
Chr15:89858614 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1557T>C (p.Leu519=) single nucleotide variant not provided [RCV000861717] Chr15:89281809 [GRCh38]
Chr15:89825040 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.258G>A (p.Ala86=) single nucleotide variant not provided [RCV000861785] Chr15:89260813 [GRCh38]
Chr15:89804044 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3604G>C (p.Gly1202Arg) single nucleotide variant Fanconi anemia [RCV000795048]|Fanconi anemia, complementation group I [RCV001194985] Chr15:89307625 [GRCh38]
Chr15:89850856 [GRCh37]
Chr15:15q26.1
pathogenic|uncertain significance
NM_001113378.2(FANCI):c.948A>T (p.Val316=) single nucleotide variant not provided [RCV000918661] Chr15:89273442 [GRCh38]
Chr15:89816673 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3234A>G (p.Arg1078=) single nucleotide variant not provided [RCV000976928] Chr15:89305388 [GRCh38]
Chr15:89848619 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.1(FANCI):c.3908A>G (p.Glu1303Gly) single nucleotide variant Fanconi anemia [RCV000814254] Chr15:89315373 [GRCh38]
Chr15:89858604 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.3457C>G (p.Leu1153Val) single nucleotide variant Fanconi anemia [RCV000823708]|Fanconi anemia, complementation group I [RCV001121115] Chr15:89306114 [GRCh38]
Chr15:89849345 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2684C>T (p.Ser895Leu) single nucleotide variant Fanconi anemia [RCV000809747] Chr15:89299847 [GRCh38]
Chr15:89843078 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.1(FANCI):c.2188T>C (p.Ser730Pro) single nucleotide variant Fanconi anemia [RCV000814499] Chr15:89292960 [GRCh38]
Chr15:89836191 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.-56T>C single nucleotide variant Fanconi anemia, complementation group I [RCV001120810] Chr15:89243997 [GRCh38]
Chr15:89787228 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) deletion Fanconi anemia, complementation group A [RCV000989376] Chr15:89305174 [GRCh38]
Chr15:89848405 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile) single nucleotide variant Fanconi anemia, complementation group I [RCV001194984] Chr15:89306178 [GRCh38]
Chr15:89849409 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) single nucleotide variant Fanconi anemia, complementation group I [RCV001194991] Chr15:89268509 [GRCh38]
Chr15:89811740 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) single nucleotide variant Neoplasm of stomach [RCV001194996] Chr15:89285201 [GRCh38]
Chr15:89828432 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro) single nucleotide variant Fanconi anemia, complementation group I [RCV001117438] Chr15:89290240 [GRCh38]
Chr15:89833471 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser) single nucleotide variant Fanconi anemia, complementation group I [RCV001119039] Chr15:89292749 [GRCh38]
Chr15:89835980 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1185A>C (p.Pro395=) single nucleotide variant not provided [RCV000869572] Chr15:89276783 [GRCh38]
Chr15:89820014 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.2636+11C>G single nucleotide variant Fanconi anemia, complementation group A [RCV000989375] Chr15:89295105 [GRCh38]
Chr15:89838336 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3652-70_3652-69del deletion Fanconi anemia, complementation group A [RCV000989377] Chr15:89312817..89312818 [GRCh38]
Chr15:89856048..89856049 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del) deletion Fanconi anemia, complementation group I [RCV001194989] Chr15:89316397..89317131 [GRCh38]
Chr15:89859628..89860362 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.756-25_756-19del deletion Fanconi anemia, complementation group I [RCV001194990] Chr15:89268372..89268378 [GRCh38]
Chr15:89811603..89811609 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.3006+3A>G single nucleotide variant Fanconi anemia, complementation group I [RCV001195000] Chr15:89301445 [GRCh38]
Chr15:89844676 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr) single nucleotide variant Fanconi anemia [RCV001213942] Chr15:89283195 [GRCh38]
Chr15:89826426 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1113C>T (p.Ser371=) single nucleotide variant Fanconi anemia [RCV001203034] Chr15:89276711 [GRCh38]
Chr15:89819942 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile) single nucleotide variant Fanconi anemia [RCV001226328] Chr15:89306172 [GRCh38]
Chr15:89849403 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val) single nucleotide variant Fanconi anemia [RCV001231391] Chr15:89293907 [GRCh38]
Chr15:89837138 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) single nucleotide variant Fanconi anemia [RCV001220139] Chr15:89307658 [GRCh38]
Chr15:89850889 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala) single nucleotide variant Fanconi anemia [RCV001216260] Chr15:89306138 [GRCh38]
Chr15:89849369 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu) single nucleotide variant Fanconi anemia [RCV001239476] Chr15:89306039 [GRCh38]
Chr15:89849270 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr) single nucleotide variant Fanconi anemia [RCV001239202] Chr15:89305117 [GRCh38]
Chr15:89848348 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val) single nucleotide variant Fanconi anemia [RCV001205405] Chr15:89268454 [GRCh38]
Chr15:89811685 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn) single nucleotide variant Fanconi anemia [RCV001237512] Chr15:89305222 [GRCh38]
Chr15:89848453 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile) single nucleotide variant Fanconi anemia [RCV001237516] Chr15:89281205 [GRCh38]
Chr15:89824436 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.22C>G (p.Leu8Val) single nucleotide variant Fanconi anemia [RCV001227020] Chr15:89247669 [GRCh38]
Chr15:89790900 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) single nucleotide variant Fanconi anemia [RCV001214638] Chr15:89315361 [GRCh38]
Chr15:89858592 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val) single nucleotide variant Fanconi anemia [RCV001043156] Chr15:89247660 [GRCh38]
Chr15:89790891 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg) single nucleotide variant Fanconi anemia [RCV001224026] Chr15:89268482 [GRCh38]
Chr15:89811713 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser) single nucleotide variant Fanconi anemia [RCV001224290] Chr15:89305120 [GRCh38]
Chr15:89848351 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg) single nucleotide variant Fanconi anemia [RCV001235717] Chr15:89306178 [GRCh38]
Chr15:89849409 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala) single nucleotide variant Fanconi anemia [RCV001225559] Chr15:89293939 [GRCh38]
Chr15:89837170 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro) single nucleotide variant Fanconi anemia [RCV001201810] Chr15:89261658 [GRCh38]
Chr15:89804889 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3255+1G>C single nucleotide variant Fanconi anemia [RCV001232704] Chr15:89305410 [GRCh38]
Chr15:89848641 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_002693.3(POLG):c.3701_3702insT (p.Ser1235fs) insertion Progressive sclerosing poliodystrophy [RCV001215530] Chr15:89316769..89316770 [GRCh38]
Chr15:89860000..89860001 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3592-12C>T single nucleotide variant Fanconi anemia, complementation group I [RCV001121119] Chr15:89307601 [GRCh38]
Chr15:89850832 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp) single nucleotide variant Fanconi anemia, complementation group I [RCV001117532] Chr15:89300374 [GRCh38]
Chr15:89843605 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3925-80G>A single nucleotide variant POLG-Related Spectrum Disorders [RCV001117651] Chr15:89316317 [GRCh38]
Chr15:89859548 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.883-4C>G single nucleotide variant Fanconi anemia [RCV001246059] Chr15:89273373 [GRCh38]
Chr15:89816604 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val) single nucleotide variant Fanconi anemia, complementation group I [RCV001116209] Chr15:89312970 [GRCh38]
Chr15:89856201 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1956G>C (p.Leu652=) single nucleotide variant not provided [RCV001093437] Chr15:89291678 [GRCh38]
Chr15:89834909 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3255+9T>A single nucleotide variant not provided [RCV000951534] Chr15:89305418 [GRCh38]
Chr15:89848649 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.228G>A (p.Val76=) single nucleotide variant not provided [RCV000963682] Chr15:89260783 [GRCh38]
Chr15:89804014 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.*376_*379dup duplication Progressive sclerosing poliodystrophy [RCV000862750] Chr15:89316832..89316833 [GRCh38]
Chr15:89860063..89860064 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.446-4C>A single nucleotide variant not provided [RCV000925826] Chr15:89261817 [GRCh38]
Chr15:89805048 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3059-4C>T single nucleotide variant Fanconi anemia [RCV000870462] Chr15:89305111 [GRCh38]
Chr15:89848342 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.819A>T (p.Leu273=) single nucleotide variant Fanconi anemia [RCV000919982] Chr15:89268462 [GRCh38]
Chr15:89811693 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) single nucleotide variant Fanconi anemia [RCV000861177]|Fanconi anemia, complementation group I [RCV001115983] Chr15:89285146 [GRCh38]
Chr15:89828377 [GRCh37]
Chr15:15q26.1
benign|likely benign|uncertain significance
NM_001113378.2(FANCI):c.3243C>G (p.Ala1081=) single nucleotide variant not provided [RCV000929934] Chr15:89305397 [GRCh38]
Chr15:89848628 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.595T>C (p.Leu199=) single nucleotide variant Fanconi anemia [RCV000871905] Chr15:89263952 [GRCh38]
Chr15:89807183 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.2577G>C (p.Val859=) single nucleotide variant not provided [RCV000876989] Chr15:89295035 [GRCh38]
Chr15:89838266 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) single nucleotide variant Fanconi anemia [RCV000872551] Chr15:89264557 [GRCh38]
Chr15:89807788 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.1479T>G (p.Leu493=) single nucleotide variant Fanconi anemia [RCV000918626] Chr15:89281267 [GRCh38]
Chr15:89824498 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=) single nucleotide variant Fanconi anemia [RCV001226221] Chr15:89305227 [GRCh38]
Chr15:89848458 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) single nucleotide variant Fanconi anemia [RCV001244711] Chr15:89299850 [GRCh38]
Chr15:89843081 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2457-2A>G single nucleotide variant not provided [RCV001200104] Chr15:89294913 [GRCh38]
Chr15:89838144 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr) single nucleotide variant Fanconi anemia [RCV001207937] Chr15:89299856 [GRCh38]
Chr15:89843087 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu) indel Fanconi anemia [RCV001243021] Chr15:89283191 [GRCh38]
Chr15:89826422 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn) single nucleotide variant Fanconi anemia, complementation group I [RCV001115982] Chr15:89285115 [GRCh38]
Chr15:89828346 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=) single nucleotide variant Fanconi anemia, complementation group I [RCV001116091] Chr15:89299848 [GRCh38]
Chr15:89843079 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp) single nucleotide variant Fanconi anemia, complementation group I [RCV001116210] Chr15:89314645 [GRCh38]
Chr15:89857876 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly) single nucleotide variant Fanconi anemia [RCV001220563] Chr15:89281796 [GRCh38]
Chr15:89825027 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn) single nucleotide variant Fanconi anemia [RCV001224766] Chr15:89264598 [GRCh38]
Chr15:89807829 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2636+3A>G single nucleotide variant Fanconi anemia [RCV001211775] Chr15:89295097 [GRCh38]
Chr15:89838328 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln) single nucleotide variant Fanconi anemia [RCV001045910] Chr15:89295060 [GRCh38]
Chr15:89838291 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1890+10A>G single nucleotide variant Fanconi anemia, complementation group I [RCV001117439] Chr15:89290291 [GRCh38]
Chr15:89833522 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) single nucleotide variant Fanconi anemia, complementation group I [RCV001117650] Chr15:89315372 [GRCh38]
Chr15:89858603 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=) single nucleotide variant Fanconi anemia, complementation group I [RCV001121117] Chr15:89306194 [GRCh38]
Chr15:89849425 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.3(POLG):c.3688T>G (p.Ser1230Ala) single nucleotide variant Progressive sclerosing poliodystrophy [RCV001235222] Chr15:89316783 [GRCh38]
Chr15:89860014 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu) single nucleotide variant Fanconi anemia [RCV001218164] Chr15:89276784 [GRCh38]
Chr15:89820015 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=) single nucleotide variant Fanconi anemia [RCV000933868] Chr15:89292799 [GRCh38]
Chr15:89836030 [GRCh37]
Chr15:15q26.1
likely benign
NM_001113378.2(FANCI):c.*329T>C single nucleotide variant not provided [RCV000992690] Chr15:89316788 [GRCh38]
Chr15:89860019 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile) single nucleotide variant Fanconi anemia [RCV001048638] Chr15:89278698 [GRCh38]
Chr15:89821929 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q26.1(chr15:89669751-89899031)x3 copy number gain not provided [RCV001006719] Chr15:89669751..89899031 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.*662C>G single nucleotide variant Fanconi anemia, complementation group I [RCV001117759] Chr15:89317121 [GRCh38]
Chr15:89860352 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val) single nucleotide variant Fanconi anemia, complementation group I [RCV001121118] Chr15:89307527 [GRCh38]
Chr15:89850758 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002693.3(POLG):c.*100G>A single nucleotide variant Fanconi anemia, complementation group I [RCV001119232]|POLG-Related Spectrum Disorders [RCV001119233] Chr15:89316651 [GRCh38]
Chr15:89859882 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) single nucleotide variant Fanconi anemia, complementation group I [RCV001194980] Chr15:89247649 [GRCh38]
Chr15:89790880 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) deletion Fanconi anemia, complementation group I [RCV001194986] Chr15:89307643..89307644 [GRCh38]
Chr15:89850874..89850875 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs) duplication Fanconi anemia, complementation group I [RCV001194988] Chr15:89315364..89315365 [GRCh38]
Chr15:89858595..89858596 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.3058+1G>A single nucleotide variant Fanconi anemia, complementation group I [RCV001195001] Chr15:89303916 [GRCh38]
Chr15:89847147 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg) single nucleotide variant Fanconi anemia, complementation group I [RCV001194993] Chr15:89276862 [GRCh38]
Chr15:89820093 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.876_879del (p.His292fs) deletion Fanconi anemia [RCV001035379] Chr15:89268518..89268521 [GRCh38]
Chr15:89811749..89811752 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs) deletion Fanconi anemia [RCV001049832] Chr15:89283217..89283233 [GRCh38]
Chr15:89826448..89826464 [GRCh37]
Chr15:15q26.1
pathogenic
NC_000015.10:g.(?_89316731)_(89316847_?)del deletion Progressive sclerosing poliodystrophy [RCV001031829] Chr15:89859962..89860078 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln) single nucleotide variant Fanconi anemia [RCV001218676] Chr15:89300375 [GRCh38]
Chr15:89843606 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile) single nucleotide variant Fanconi anemia [RCV001204923] Chr15:89293869 [GRCh38]
Chr15:89837100 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile) single nucleotide variant Fanconi anemia [RCV001035958] Chr15:89293882 [GRCh38]
Chr15:89837113 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.933_935TCT[2] (p.Leu314del) microsatellite Fanconi anemia [RCV001060864] Chr15:89273427..89273429 [GRCh38]
Chr15:89816658..89816660 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.-10A>G single nucleotide variant Fanconi anemia, complementation group I [RCV001120811] Chr15:89247638 [GRCh38]
Chr15:89790869 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2292-11G>C single nucleotide variant Fanconi anemia, complementation group I [RCV001121007] Chr15:89293822 [GRCh38]
Chr15:89837053 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1703A>C (p.His568Pro) single nucleotide variant Fanconi anemia [RCV001234953] Chr15:89285100 [GRCh38]
Chr15:89828331 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His) single nucleotide variant Fanconi anemia [RCV001061571] Chr15:89281279 [GRCh38]
Chr15:89824510 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) deletion Fanconi anemia [RCV001205465] Chr15:89295026..89295027 [GRCh38]
Chr15:89838257..89838258 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg) single nucleotide variant Fanconi anemia [RCV001216607] Chr15:89307500 [GRCh38]
Chr15:89850731 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe) single nucleotide variant Fanconi anemia [RCV001236998] Chr15:89264006 [GRCh38]
Chr15:89807237 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys) single nucleotide variant Fanconi anemia, complementation group I [RCV001119129] Chr15:89305626 [GRCh38]
Chr15:89848857 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr) single nucleotide variant Fanconi anemia, complementation group I [RCV001194999] Chr15:89295030 [GRCh38]
Chr15:89838261 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs) deletion Fanconi anemia, complementation group I [RCV001194982] Chr15:89306093..89306111 [GRCh38]
Chr15:89849324..89849342 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro) single nucleotide variant Fanconi anemia [RCV001058102] Chr15:89281260 [GRCh38]
Chr15:89824491 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn) single nucleotide variant Fanconi anemia [RCV001202317] Chr15:89316456 [GRCh38]
Chr15:89859687 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala) single nucleotide variant Fanconi anemia [RCV001040081] Chr15:89268443 [GRCh38]
Chr15:89811674 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys) single nucleotide variant Fanconi anemia [RCV001217968] Chr15:89315363 [GRCh38]
Chr15:89858594 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg) single nucleotide variant Fanconi anemia [RCV001218035] Chr15:89305228 [GRCh38]
Chr15:89848459 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp) single nucleotide variant Fanconi anemia [RCV001206910] Chr15:89295030 [GRCh38]
Chr15:89838261 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser) single nucleotide variant Fanconi anemia [RCV001052009] Chr15:89273405 [GRCh38]
Chr15:89816636 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.571G>A (p.Val191Met) single nucleotide variant Fanconi anemia [RCV001218391] Chr15:89263928 [GRCh38]
Chr15:89807159 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser) single nucleotide variant Fanconi anemia [RCV001040941] Chr15:89292791 [GRCh38]
Chr15:89836022 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) single nucleotide variant Fanconi anemia [RCV001208200] Chr15:89293038 [GRCh38]
Chr15:89836269 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.157+78G>A single nucleotide variant Fanconi anemia, complementation group I [RCV001194981] Chr15:89258854 [GRCh38]
Chr15:89802085 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) single nucleotide variant Fanconi anemia, complementation group I [RCV001194987] Chr15:89315360 [GRCh38]
Chr15:89858591 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.1583+142C>T single nucleotide variant Fanconi anemia, complementation group I [RCV001194994] Chr15:89281977 [GRCh38]
Chr15:89825208 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) single nucleotide variant not provided [RCV001194995] Chr15:89283149 [GRCh38]
Chr15:89826380 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) single nucleotide variant Fanconi anemia, complementation group I [RCV001194997] Chr15:89290231 [GRCh38]
Chr15:89833462 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg) single nucleotide variant Fanconi anemia, complementation group I [RCV001194998] Chr15:89293020 [GRCh38]
Chr15:89836251 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.3058+4A>G single nucleotide variant Fanconi anemia, complementation group I [RCV001195002] Chr15:89303919 [GRCh38]
Chr15:89847150 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.3350-88A>G single nucleotide variant Fanconi anemia, complementation group I [RCV001195003] Chr15:89305919 [GRCh38]
Chr15:89849150 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp) deletion Fanconi anemia [RCV001228924] Chr15:89300316..89300348 [GRCh38]
Chr15:89843547..89843579 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=) single nucleotide variant Fanconi anemia, complementation group I [RCV001121121] Chr15:89307672 [GRCh38]
Chr15:89850903 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg) single nucleotide variant Fanconi anemia [RCV001051225] Chr15:89292752 [GRCh38]
Chr15:89835983 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) single nucleotide variant Fanconi anemia, complementation group I [RCV001118939] Chr15:89274209 [GRCh38]
Chr15:89817440 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg) single nucleotide variant Fanconi anemia [RCV001041631] Chr15:89263980 [GRCh38]
Chr15:89807211 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr) single nucleotide variant Fanconi anemia, complementation group I [RCV001117328] Chr15:89264553 [GRCh38]
Chr15:89807784 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val) single nucleotide variant Fanconi anemia [RCV001052792] Chr15:89293931 [GRCh38]
Chr15:89837162 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys) single nucleotide variant Fanconi anemia [RCV001203284] Chr15:89281277 [GRCh38]
Chr15:89824508 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly) single nucleotide variant Fanconi anemia [RCV001048482] Chr15:89292972 [GRCh38]
Chr15:89836203 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val) single nucleotide variant Microcephaly [RCV001252858] Chr15:89261696 [GRCh38]
Chr15:89804927 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25568 AgrOrtholog
COSMIC FANCI COSMIC
Ensembl Genes ENSG00000140525 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000300027 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000310842 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413249 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000454371 UniProtKB/TrEMBL
  ENSP00000454669 UniProtKB/TrEMBL
  ENSP00000455189 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000455735 UniProtKB/TrEMBL
  ENSP00000456552 UniProtKB/TrEMBL
  ENSP00000457029 UniProtKB/TrEMBL
  ENSP00000458024 UniProtKB/Swiss-Prot
  ENSP00000502254 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502474 UniProtKB/TrEMBL
Ensembl Transcript ENST00000300027 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000310775 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000447611 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000561894 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000563250 UniProtKB/TrEMBL
  ENST00000564920 UniProtKB/TrEMBL
  ENST00000565255 UniProtKB/TrEMBL
  ENST00000567891 UniProtKB/TrEMBL
  ENST00000567996 UniProtKB/Swiss-Prot
  ENST00000570225 UniProtKB/TrEMBL
  ENST00000674831 UniProtKB/TrEMBL
  ENST00000676003 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000140525 GTEx
HGNC ID HGNC:25568 ENTREZGENE
Human Proteome Map FANCI Human Proteome Map
InterPro FANCI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_HD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_HD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S1-cap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55215 UniProtKB/Swiss-Prot
NCBI Gene 55215 ENTREZGENE
OMIM 609053 OMIM
  611360 OMIM
PANTHER PTHR21818 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FANCI_HD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_HD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S1-cap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCI_S4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162387928 PharmGKB
UniProt A0A6Q8PGF4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH09_HUMAN UniProtKB/TrEMBL
  B3KNW8 ENTREZGENE, UniProtKB/TrEMBL
  B7ZMF2_HUMAN UniProtKB/TrEMBL
  F8W7R3_HUMAN UniProtKB/TrEMBL
  FANCI_HUMAN UniProtKB/Swiss-Prot
  H3BMG4_HUMAN UniProtKB/TrEMBL
  H3BN35_HUMAN UniProtKB/TrEMBL
  H3BP78_HUMAN UniProtKB/TrEMBL
  H3BQE2_HUMAN UniProtKB/TrEMBL
  H3BS60_HUMAN UniProtKB/TrEMBL
  H3BT54_HUMAN UniProtKB/TrEMBL
  Q9NVI1 ENTREZGENE
UniProt Secondary A4ZVE4 UniProtKB/Swiss-Prot
  A5YMH4 UniProtKB/Swiss-Prot
  A6NJZ0 UniProtKB/Swiss-Prot
  Q96JN1 UniProtKB/Swiss-Prot
  Q96ST0 UniProtKB/Swiss-Prot
  Q9BT96 UniProtKB/Swiss-Prot


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