FANCC (FA complementation group C) - Rat Genome Database

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Gene: FANCC (FA complementation group C) Homo sapiens
Analyze
Symbol: FANCC
Name: FA complementation group C
RGD ID: 735813
HGNC Page HGNC:3584
Description: Predicted to be involved in cellular response to oxidative stress and nucleotide-excision repair. Predicted to act upstream of or within several processes, including brain morphogenesis; neuronal stem cell population maintenance; and removal of superoxide radicals. Located in chromatin and cytosol. Part of Fanconi anaemia nuclear complex. Implicated in several diseases, including Fanconi anemia (multiple); acute myeloid leukemia; aspirin-induced respiratory disease; pancreatic cancer; and pancytopenia. Biomarker of tongue squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA80I15.1 (Fanconi anemia, complementation group C, protein); FA3; FAC; FACC; Fanconi anemia complementation group C; Fanconi anemia group C protein; Fanconi anemia, complementation group C; FLJ14675
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38995,099,054 - 95,317,709 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl995,099,054 - 95,426,796 (-)EnsemblGRCh38hg38GRCh38
GRCh37997,861,336 - 98,079,991 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36996,901,157 - 97,119,812 (-)NCBINCBI36Build 36hg18NCBI36
Build 34994,940,890 - 95,159,546NCBI
Celera968,302,367 - 68,521,048 (-)NCBICelera
Cytogenetic Map9q22.32NCBI
HuRef967,470,857 - 67,689,280 (-)NCBIHuRef
CHM1_1998,007,791 - 98,226,463 (-)NCBICHM1_1
T2T-CHM13v2.09107,268,451 - 107,487,223 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
asbestos  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
chlorambucil  (EXP)
cisplatin  (EXP,ISO)
cypermethrin  (ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
epoxiconazole  (ISO)
formaldehyde  (EXP)
genistein  (EXP)
hydrogen peroxide  (EXP)
lipopolysaccharide  (ISO)
lycopene  (EXP)
melphalan  (EXP)
methapyrilene  (EXP)
N-ethyl-N-nitrosourea  (ISO)
ochratoxin A  (ISO)
ozone  (ISO)
paracetamol  (ISO)
pentachlorophenol  (ISO)
phosphoramide mustard  (ISO)
pirinixic acid  (EXP)
potassium chromate  (EXP)
resveratrol  (ISO)
riddelliine  (EXP)
rotenone  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal preputium morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Absent radius  (IAGP)
Absent testis  (IAGP)
Absent thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Anemic pallor  (IAGP)
Anterior wedging of T12  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Arteriovenous malformation  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Bone marrow hypocellularity  (IAGP)
Breast carcinoma  (IAGP)
Bruising susceptibility  (IAGP)
Cafe-au-lait spot  (IAGP)
Cataract  (IAGP)
Childhood onset  (IAGP)
Choanal atresia  (IAGP)
Chromosomal breakage induced by crosslinking agents  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Colon cancer  (IAGP)
Complete duplication of thumb phalanx  (IAGP)
Congenital onset  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in males  (IAGP)
Deficient excision of UV-induced pyrimidine dimers in DNA  (IAGP)
Dolichocephaly  (IAGP)
Duodenal stenosis  (IAGP)
Duplicated collecting system  (IAGP)
Duplication of thumb phalanx  (IAGP)
Ectopic kidney  (IAGP)
Epicanthus  (IAGP)
Facial asymmetry  (IAGP)
Finger syndactyly  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented macule  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Leukemia  (IAGP)
Leukopenia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Neoplasm  (IAGP)
Neutropenia  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Ovarian neoplasm  (IAGP)
Pancytopenia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Premature ovarian insufficiency  (IAGP)
Prolonged G2 phase of cell cycle  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Reticulocytopenia  (IAGP)
Scoliosis  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Sloping forehead  (IAGP)
Small for gestational age  (IAGP)
Spina bifida  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Triangular face  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia. Barber LM, etal., Br J Haematol. 2003 Apr;121(1):57-62.
2. Bone marrow failure in the Fanconi anemia group C mouse model after DNA damage. Carreau M, etal., Blood. 1998 Apr 15;91(8):2737-44.
3. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Chen M, etal., Nat Genet 1996 Apr;12(4):448-51.
4. Germ line Fanconi anemia complementation group C mutations and pancreatic cancer. Couch FJ, etal., Cancer Res. 2005 Jan 15;65(2):383-6.
5. Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. Faivre L, etal., Blood. 2000 Dec 15;96(13):4064-70.
6. A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Gavish H, etal., Hum Mol Genet 1993 Feb;2(2):123-6.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Phenotypic correction of Fanconi anemia group C knockout mice. Gush KA, etal., Blood. 2000 Jan 15;95(2):700-4.
9. Association of FANCC polymorphisms with FEV1 decline in aspirin exacerbated respiratory disease. Kim JH, etal., Mol Biol Rep. 2012 Mar;39(3):2385-94. doi: 10.1007/s11033-011-0989-6. Epub 2011 Jun 14.
10. Fanconi anemia links reactive oxygen species to insulin resistance and obesity. Li J, etal., Antioxid Redox Signal. 2012 Oct 15;17(8):1083-98. doi: 10.1089/ars.2011.4417. Epub 2012 Jun 25.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Inflammatory reactive oxygen species-mediated hemopoietic suppression in Fancc-deficient mice. Sejas DP, etal., J Immunol. 2007 Apr 15;178(8):5277-87.
16. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. Thompson ER, etal., PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27.
17. In vivo therapeutic responses contingent on Fanconi anemia/BRCA2 status of the tumor. van der Heijden MS, etal., Clin Cancer Res. 2005 Oct 15;11(20):7508-15.
18. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Whitney MA, etal., Blood 1996 Jul 1;88(1):49-58.
19. Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma. Wreesmann VB, etal., ORL J Otorhinolaryngol Relat Spec. 2007;69(4):218-25. Epub 2007 Apr 4.
20. Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. Yates J, etal., Hum Mutat. 2006 Feb;27(2):214.
Additional References at PubMed
PMID:1303234   PMID:1574115   PMID:1641028   PMID:7492758   PMID:7517562   PMID:7518843   PMID:8058745   PMID:8081385   PMID:8103176   PMID:8125298   PMID:8128956   PMID:8348157  
PMID:8490620   PMID:8613549   PMID:8639804   PMID:8829660   PMID:8844212   PMID:9242535   PMID:9398857   PMID:9454773   PMID:9596688   PMID:9742112   PMID:9787138   PMID:9789045  
PMID:10210316   PMID:10373536   PMID:10431244   PMID:10551855   PMID:10572087   PMID:10627486   PMID:10848598   PMID:10961856   PMID:11063725   PMID:11157805   PMID:11167740   PMID:11297559  
PMID:11401546   PMID:11427142   PMID:11433346   PMID:11438206   PMID:11500375   PMID:11520787   PMID:11750104   PMID:11751423   PMID:11876000   PMID:11986317   PMID:12093742   PMID:12210728  
PMID:12239156   PMID:12397061   PMID:12444097   PMID:12477932   PMID:12649160   PMID:12692539   PMID:12724401   PMID:12763929   PMID:12973351   PMID:14499622   PMID:14625294   PMID:15077170  
PMID:15082718   PMID:15256425   PMID:15262960   PMID:15299017   PMID:15299030   PMID:15327776   PMID:15489334   PMID:15502827   PMID:15616572   PMID:15726604   PMID:15964625   PMID:16116422  
PMID:16127171   PMID:16344560   PMID:16513431   PMID:16720839   PMID:16889989   PMID:17082180   PMID:17289582   PMID:17353931   PMID:17396147   PMID:17490643   PMID:17671210   PMID:17977515  
PMID:18264947   PMID:18550849   PMID:18607065   PMID:18950845   PMID:18990233   PMID:19064572   PMID:19102630   PMID:19237606   PMID:19321451   PMID:19536649   PMID:19690177   PMID:19714462  
PMID:19913121   PMID:19965384   PMID:20301575   PMID:20301753   PMID:20347428   PMID:20379614   PMID:20496165   PMID:20509860   PMID:20518497   PMID:20538911   PMID:20628086   PMID:20864535  
PMID:20869034   PMID:21543111   PMID:21697891   PMID:21850767   PMID:21861228   PMID:21873635   PMID:21988832   PMID:22020285   PMID:22266823   PMID:22343915   PMID:22653977   PMID:22705371  
PMID:23303816   PMID:24046015   PMID:24412244   PMID:24418621   PMID:24451376   PMID:24469828   PMID:24676280   PMID:24699063   PMID:24910428   PMID:25545896   PMID:26277624   PMID:26466335  
PMID:26778106   PMID:26842001   PMID:26871637   PMID:27133164   PMID:27986371   PMID:28215707   PMID:28425259   PMID:29656893   PMID:29843852   PMID:29901137   PMID:29930218   PMID:29997244  
PMID:30021884   PMID:31467304   PMID:33073500   PMID:33960642   PMID:33961781   PMID:34591612   PMID:34864095   PMID:35559673   PMID:36688959  


Genomics

Comparative Map Data
FANCC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38995,099,054 - 95,317,709 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl995,099,054 - 95,426,796 (-)EnsemblGRCh38hg38GRCh38
GRCh37997,861,336 - 98,079,991 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36996,901,157 - 97,119,812 (-)NCBINCBI36Build 36hg18NCBI36
Build 34994,940,890 - 95,159,546NCBI
Celera968,302,367 - 68,521,048 (-)NCBICelera
Cytogenetic Map9q22.32NCBI
HuRef967,470,857 - 67,689,280 (-)NCBIHuRef
CHM1_1998,007,791 - 98,226,463 (-)NCBICHM1_1
T2T-CHM13v2.09107,268,451 - 107,487,223 (-)NCBIT2T-CHM13v2.0
Fancc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391363,452,519 - 63,645,126 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1363,432,857 - 63,645,092 (-)EnsemblGRCm39 Ensembl
GRCm381363,301,334 - 63,497,292 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1363,285,043 - 63,497,278 (-)EnsemblGRCm38mm10GRCm38
MGSCv371363,406,017 - 63,533,053 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361363,320,977 - 63,440,947 (-)NCBIMGSCv36mm8
Celera1364,958,890 - 65,084,928 (-)NCBICelera
Cytogenetic Map13B3NCBI
cM Map1332.8NCBI
Fancc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8171,686,374 - 1,818,672 (+)NCBIGRCr8
mRatBN7.2171,680,660 - 1,822,610 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl171,681,324 - 1,829,376 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx171,700,069 - 1,822,177 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0173,242,667 - 3,364,775 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0171,697,517 - 1,819,627 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.017826,512 - 955,703 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl17833,509 - 955,615 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.017819,325 - 948,712 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,254,528 - 7,341,500 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1177,254,527 - 7,341,497 (+)NCBI
Celera17719,268 - 841,089 (-)NCBICelera
RH 3.4 Map175.6RGD
Cytogenetic Map17p14NCBI
Fancc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542222,032,258 - 22,247,044 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542222,031,825 - 22,246,478 (-)NCBIChiLan1.0ChiLan1.0
FANCC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21144,131,166 - 44,349,651 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1944,133,582 - 44,352,031 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0966,201,581 - 66,418,229 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1994,327,355 - 94,544,772 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl994,329,971 - 94,477,198 (-)Ensemblpanpan1.1panPan2
FANCC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1171,388,931 - 71,678,019 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl171,487,601 - 71,678,506 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha172,151,677 - 72,440,952 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0171,693,614 - 71,983,350 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl171,788,781 - 71,973,067 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1171,505,368 - 71,794,755 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0171,269,071 - 71,558,824 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0171,975,513 - 72,265,108 (+)NCBIUU_Cfam_GSD_1.0
Fancc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049444,751,995 - 4,931,679 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366263,982,647 - 4,159,976 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366263,980,311 - 4,147,042 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FANCC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1026,796,572 - 27,061,801 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11026,796,546 - 27,055,271 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21031,282,173 - 31,315,897 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FANCC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112107,780,087 - 107,991,828 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl12107,845,135 - 107,991,237 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603896,155,447 - 96,377,196 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fancc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475316,566,864 - 16,811,438 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FANCC
1989 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000136.3(FANCC):c.1154+2dup duplication Fanconi anemia [RCV000552945]|Fanconi anemia complementation group C [RCV005044796]|Hereditary cancer-predisposing syndrome [RCV002367773]|not provided [RCV003322780] Chr9:95114626..95114627 [GRCh38]
Chr9:97876908..97876909 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.9A>T (p.Gln3His) single nucleotide variant Fanconi anemia [RCV000692581]|Fanconi anemia complementation group C [RCV001276468]|Hereditary cancer-predisposing syndrome [RCV002384005]|not provided [RCV000518936] Chr9:95249283 [GRCh38]
Chr9:98011565 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1146G>C (p.Gln382His) single nucleotide variant Fanconi anemia [RCV000542270]|Fanconi anemia complementation group C [RCV001274616]|Hereditary cancer-predisposing syndrome [RCV002456046] Chr9:95114637 [GRCh38]
Chr9:97876919 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1399C>G (p.Leu467Val) single nucleotide variant Fanconi anemia [RCV001857956]|Hereditary cancer-predisposing syndrome [RCV002395246]|not provided [RCV000519297] Chr9:95107200 [GRCh38]
Chr9:97869482 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro) single nucleotide variant Fanconi anemia [RCV000551381]|Hereditary cancer-predisposing syndrome [RCV002323916]|not provided [RCV003478126] Chr9:95240665 [GRCh38]
Chr9:98002947 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala) single nucleotide variant Fanconi anemia [RCV000549299]|Hereditary cancer-predisposing syndrome [RCV002384041] Chr9:95117357 [GRCh38]
Chr9:97879639 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_000136.3(FANCC):c.494_495del (p.His165fs) deletion Fanconi anemia complementation group C [RCV003485634]|not provided [RCV000722235] Chr9:95171105..95171106 [GRCh38]
Chr9:97933387..97933388 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.906C>T (p.Leu302=) single nucleotide variant Fanconi anemia [RCV000544868]|Hereditary cancer-predisposing syndrome [RCV002377003] Chr9:95125176 [GRCh38]
Chr9:97887458 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu) single nucleotide variant Fanconi anemia [RCV000630828]|Hereditary cancer-predisposing syndrome [RCV000567655]|not provided [RCV002293461] Chr9:95101762 [GRCh38]
Chr9:97864044 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1546_1547delinsTT (p.Ala516Phe) indel Hereditary cancer-predisposing syndrome [RCV000563212]|not specified [RCV000523904] Chr9:95101837..95101838 [GRCh38]
Chr9:97864119..97864120 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg) single nucleotide variant Fanconi anemia [RCV000797804]|Hereditary cancer-predisposing syndrome [RCV000566315]|not provided [RCV001770521] Chr9:95114693 [GRCh38]
Chr9:97876975 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) single nucleotide variant Fanconi anemia [RCV001242520]|Fanconi anemia complementation group A [RCV000988202]|Fanconi anemia complementation group C [RCV002497008]|Hereditary cancer-predisposing syndrome [RCV001010616]|not provided [RCV000519962] Chr9:95111533 [GRCh38]
Chr9:97873815 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) duplication Fanconi anemia [RCV001851810]|Fanconi anemia complementation group C [RCV000012828]|Hereditary cancer-predisposing syndrome [RCV004619189]|not provided [RCV004777561] Chr9:95101828..95101829 [GRCh38]
Chr9:97864110..97864111 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.165+1G>T single nucleotide variant Fanconi anemia [RCV001221363]|Fanconi anemia complementation group C [RCV000012831]|not provided [RCV001588811] Chr9:95249126 [GRCh38]
Chr9:98011408 [GRCh37]
Chr9:9q22.32		 pathogenic
FANCC, 250-BP DEL deletion Fanconi anemia complementation group C [RCV000012832] Chr9:9q22.3 pathogenic
NM_000136.3(FANCC):c.1285TAC[1] (p.Tyr430del) microsatellite Fanconi anemia [RCV001853768]|Fanconi anemia complementation group C [RCV001273983]|Hereditary cancer-predisposing syndrome [RCV000565785] Chr9:95111502..95111504 [GRCh38]
Chr9:97873784..97873786 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.246A>G (p.Ala82=) single nucleotide variant Fanconi anemia [RCV000543469]|Hereditary cancer-predisposing syndrome [RCV004023747] Chr9:95247436 [GRCh38]
Chr9:98009718 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.112G>C (p.Val38Leu) single nucleotide variant Fanconi anemia [RCV000527400]|Hereditary cancer-predisposing syndrome [RCV002323915] Chr9:95249180 [GRCh38]
Chr9:98011462 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1366A>G (p.Met456Val) single nucleotide variant Fanconi anemia [RCV000554186]|Fanconi anemia complementation group C [RCV001273980]|Hereditary cancer-predisposing syndrome [RCV001011062]|not provided [RCV005001075] Chr9:95107233 [GRCh38]
Chr9:97869515 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.436_438del (p.Tyr146del) deletion Fanconi anemia [RCV000550475]|Fanconi anemia complementation group C [RCV001276460]|Hereditary cancer-predisposing syndrome [RCV000566915]|not provided [RCV002254930]|not specified [RCV001821481] Chr9:95172055..95172057 [GRCh38]
Chr9:97934337..97934339 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1329+1G>T single nucleotide variant Fanconi anemia [RCV000529278]|Fanconi anemia complementation group C [RCV001004548] Chr9:95111462 [GRCh38]
Chr9:97873744 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.948G>C (p.Gln316His) single nucleotide variant Fanconi anemia complementation group C [RCV001274469]|Hereditary cancer-predisposing syndrome [RCV003159667]|not provided [RCV000519645] Chr9:95125134 [GRCh38]
Chr9:97887416 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) single nucleotide variant FANCC-related disorder [RCV003421917]|Fanconi anemia [RCV001221431]|Fanconi anemia complementation group C [RCV000012823]|Hereditary cancer-predisposing syndrome [RCV002399319]|not provided [RCV000058925] Chr9:95101723 [GRCh38]
Chr9:97864005 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|not provided
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) single nucleotide variant FANCC-related disorder [RCV004748517]|Fanconi anemia [RCV000471314]|Fanconi anemia complementation group C [RCV000012824]|Hereditary cancer-predisposing syndrome [RCV000568180]|Malignant tumor of breast [RCV001356657]|not provided [RCV000115356] Chr9:95150056 [GRCh38]
Chr9:97912338 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.456+4A>T single nucleotide variant FANCC-related disorder [RCV004748518]|Fanconi anemia [RCV000197192]|Fanconi anemia complementation group C [RCV000012825]|Hereditary cancer-predisposing syndrome [RCV000562912]|Malignant tumor of breast [RCV001358012]|not provided [RCV000115354] Chr9:95172033 [GRCh38]
Chr9:97934315 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) single nucleotide variant FANCC-related disorder [RCV004748519]|Fanconi anemia [RCV000476519]|Fanconi anemia complementation group C [RCV000012826]|Hereditary cancer-predisposing syndrome [RCV001021181]|not provided [RCV000115351] Chr9:95249255 [GRCh38]
Chr9:98011537 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) single nucleotide variant Fanconi anemia [RCV000205197]|Fanconi anemia complementation group C [RCV000012827]|Hereditary cancer-predisposing syndrome [RCV000572840]|not provided [RCV000058924] Chr9:95101742 [GRCh38]
Chr9:97864024 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000136.3(FANCC):c.67del (p.Asp23fs) deletion FANCC-related disorder [RCV004748520]|Fanconi anemia [RCV000460906]|Fanconi anemia complementation group C [RCV000012829]|Hereditary cancer-predisposing syndrome [RCV001025667]|not provided [RCV000058926] Chr9:95249225 [GRCh38]
Chr9:98011507 [GRCh37]
Chr9:9q22.32		 pathogenic|not provided
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) single nucleotide variant Fanconi anemia complementation group C [RCV000012830] Chr9:95107112 [GRCh38]
Chr9:97869394 [GRCh37]
Chr9:9q22.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1 copy number loss See cases [RCV000052916] Chr9:91596533..97018746 [GRCh38]
Chr9:94358815..99781028 [GRCh37]
Chr9:93398636..98820849 [NCBI36]
Chr9:9q22.31-22.33		 pathogenic
GRCh38/hg38 9q22.32(chr9:95046229-96111163)x1 copy number loss See cases [RCV000052918] Chr9:95046229..96111163 [GRCh38]
Chr9:97808511..98873445 [GRCh37]
Chr9:96848332..97913266 [NCBI36]
Chr9:9q22.32		 pathogenic
GRCh38/hg38 9q22.32(chr9:95316018-95668838)x1 copy number loss See cases [RCV000052919] Chr9:95316018..95668838 [GRCh38]
Chr9:98078300..98431120 [GRCh37]
Chr9:97118121..97470941 [NCBI36]
Chr9:9q22.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3 copy number gain See cases [RCV000053773] Chr9:92561720..98122580 [GRCh38]
Chr9:95324002..100884862 [GRCh37]
Chr9:94363823..99924683 [NCBI36]
Chr9:9q22.31-22.33		 pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) indel FANCC-related disorder [RCV003925114]|Fanconi anemia [RCV000229758]|Fanconi anemia complementation group C [RCV000590237]|Hereditary cancer-predisposing syndrome [RCV001020583]|not provided [RCV000115350] Chr9:95172133..95172138 [GRCh38]
Chr9:97934415..97934420 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.-78-2A>G single nucleotide variant Fanconi anemia [RCV001068445]|not provided [RCV000115337] Chr9:95249371 [GRCh38]
Chr9:98011653 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.-79+5G>A single nucleotide variant Fanconi anemia [RCV000934808]|Fanconi anemia complementation group C [RCV001168032]|not specified [RCV000115338] Chr9:95317521 [GRCh38]
Chr9:98079803 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln) single nucleotide variant Fanconi anemia [RCV000630863]|Hereditary breast ovarian cancer syndrome [RCV001030468]|Hereditary cancer-predisposing syndrome [RCV001009634]|not provided [RCV000115339] Chr9:95117386 [GRCh38]
Chr9:97879668 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe) single nucleotide variant Fanconi anemia [RCV000197177]|Hereditary cancer-predisposing syndrome [RCV002433605]|not provided [RCV000115340] Chr9:95117378 [GRCh38]
Chr9:97879660 [GRCh37]
Chr9:9q22.32		 pathogenic|uncertain significance
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys) single nucleotide variant Fanconi anemia [RCV000206060]|Fanconi anemia complementation group C [RCV005042212]|Hereditary cancer-predisposing syndrome [RCV002381419]|not provided [RCV000115341] Chr9:95111495 [GRCh38]
Chr9:97873777 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) single nucleotide variant FANCC-related disorder [RCV004748580]|Fanconi anemia [RCV000805530]|Fanconi anemia complementation group C [RCV000709080]|Hereditary cancer [RCV003492471]|Hereditary cancer-predisposing syndrome [RCV001011247]|not provided [RCV000115342] Chr9:95107225 [GRCh38]
Chr9:97869507 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1489T>C (p.Trp497Arg) single nucleotide variant not provided [RCV000115343] Chr9:95107110 [GRCh38]
Chr9:97869392 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu) single nucleotide variant Fanconi anemia [RCV000195617]|Fanconi anemia complementation group C [RCV001271437]|Hereditary cancer-predisposing syndrome [RCV000566338]|not provided [RCV000115344] Chr9:95101809 [GRCh38]
Chr9:97864091 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.1604G>A (p.Arg535His) single nucleotide variant Fanconi anemia [RCV000228424]|Hereditary cancer-predisposing syndrome [RCV001012346]|not provided [RCV005000998]|not specified [RCV000115345] Chr9:95101780 [GRCh38]
Chr9:97864062 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro) single nucleotide variant Fanconi anemia [RCV000699773]|Fanconi anemia complementation group C [RCV005042213]|Hereditary cancer-predisposing syndrome [RCV001012402]|Malignant tumor of breast [RCV001354205]|not provided [RCV000115346] Chr9:95101777 [GRCh38]
Chr9:97864059 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) single nucleotide variant FANCC-related disorder [RCV003935098]|Fanconi anemia [RCV000197543]|Fanconi anemia complementation group C [RCV000709095]|Hereditary cancer [RCV003492472]|Hereditary cancer-predisposing syndrome [RCV000563479]|Malignant tumor of breast [RCV001354572]|not provided [RCV000224234]|not specified [RCV000115347] Chr9:95247504 [GRCh38]
Chr9:98009786 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) single nucleotide variant Fanconi anemia [RCV000233348]|Fanconi anemia complementation group C [RCV000709097]|Hereditary cancer [RCV004700418]|Hereditary cancer-predisposing syndrome [RCV000567825]|Malignant tumor of breast [RCV001358189]|not provided [RCV000656849]|not specified [RCV001818266] Chr9:95249263 [GRCh38]
Chr9:98011545 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.345+6A>T single nucleotide variant Fanconi anemia [RCV000196582]|not provided [RCV003477494]|not specified [RCV000115349] Chr9:95240643 [GRCh38]
Chr9:98002925 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) single nucleotide variant Fanconi anemia [RCV000315029]|Fanconi anemia complementation group C [RCV000709093]|Hereditary cancer [RCV003492473]|Hereditary cancer-predisposing syndrome [RCV000571052]|not provided [RCV000115352]|not specified [RCV001818267] Chr9:95172098 [GRCh38]
Chr9:97934380 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe) single nucleotide variant Fanconi anemia [RCV000464178]|Fanconi anemia complementation group C [RCV001276461]|Hereditary cancer-predisposing syndrome [RCV002354291]|not provided [RCV000115353] Chr9:95172096 [GRCh38]
Chr9:97934378 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.542C>T (p.Ala181Val) single nucleotide variant Fanconi anemia [RCV000204580]|Fanconi anemia complementation group C [RCV001167421]|Hereditary cancer-predisposing syndrome [RCV001024091]|not provided [RCV000115355] Chr9:95150067 [GRCh38]
Chr9:97912349 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) single nucleotide variant FANCC-related disorder [RCV003945045]|Fanconi anemia [RCV000200372]|Fanconi anemia complementation group A [RCV000988214]|Fanconi anemia complementation group C [RCV000709090]|Hereditary cancer-predisposing syndrome [RCV000570280]|Malignant tumor of breast [RCV001356599]|not provided [RCV001195037]|not specified [RCV000120979] Chr9:95149977 [GRCh38]
Chr9:97912259 [GRCh37]
Chr9:9q22.32		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000136.3(FANCC):c.708G>A (p.Met236Ile) single nucleotide variant Fanconi anemia [RCV005089577]|Hereditary cancer-predisposing syndrome [RCV003162537]|not provided [RCV000115359] Chr9:95135481 [GRCh38]
Chr9:97897763 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.828A>G (p.Ile276Met) single nucleotide variant Fanconi anemia [RCV005089578]|Hereditary cancer-predisposing syndrome [RCV004619200]|not provided [RCV000115360] Chr9:95135361 [GRCh38]
Chr9:97897643 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.843+1G>A single nucleotide variant Fanconi anemia [RCV000204814]|Fanconi anemia complementation group C [RCV000410480]|Hereditary cancer-predisposing syndrome [RCV002444565]|Malignant tumor of breast [RCV001356332] Chr9:95135345 [GRCh38]
Chr9:97897627 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) single nucleotide variant FANCC-related disorder [RCV004748581]|Fanconi anemia [RCV000196771]|Fanconi anemia complementation group C [RCV000709085]|Hereditary cancer [RCV004700419]|Hereditary cancer-predisposing syndrome [RCV000572525]|not provided [RCV001195051]|not specified [RCV001818268] Chr9:95125148 [GRCh38]
Chr9:97887430 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.943A>G (p.Ile315Val) single nucleotide variant Fanconi anemia [RCV001831904]|Fanconi anemia complementation group C [RCV005042214]|Hereditary cancer-predisposing syndrome [RCV001019357]|not provided [RCV000115363] Chr9:95125139 [GRCh38]
Chr9:97887421 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) single nucleotide variant FANCC-related disorder [RCV003905096]|Fanconi anemia [RCV000197125]|Fanconi anemia complementation group C [RCV001169821]|Hereditary cancer-predisposing syndrome [RCV000575554]|not provided [RCV001355026]|not specified [RCV000115364] Chr9:95125109 [GRCh38]
Chr9:97887391 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.974C>T (p.Ala325Val) single nucleotide variant Fanconi anemia [RCV000630831]|Fanconi anemia complementation group C [RCV002483186]|Hereditary cancer-predisposing syndrome [RCV001019698]|not provided [RCV000115365]|not specified [RCV001818269] Chr9:95125108 [GRCh38]
Chr9:97887390 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.672C>T (p.Asn224=) single nucleotide variant Fanconi anemia [RCV000227447]|Fanconi anemia complementation group C [RCV001165846]|Hereditary cancer-predisposing syndrome [RCV000566669]|Malignant tumor of breast [RCV001356398]|not specified [RCV000124963] Chr9:95149937 [GRCh38]
Chr9:97912219 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.705C>T (p.Pro235=) single nucleotide variant FANCC-related disorder [RCV003975106]|Fanconi anemia [RCV000199490]|Fanconi anemia complementation group C [RCV001095300]|Hereditary cancer-predisposing syndrome [RCV000564470]|Malignant tumor of breast [RCV001355936]|not provided [RCV001195050]|not specified [RCV000124964] Chr9:95135484 [GRCh38]
Chr9:97897766 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.816C>T (p.Ile272=) single nucleotide variant FANCC-related disorder [RCV003905198]|Fanconi anemia [RCV000203994]|Fanconi anemia complementation group C [RCV001095299]|Hereditary cancer-predisposing syndrome [RCV000563129]|not provided [RCV000588252]|not specified [RCV000124965] Chr9:95135373 [GRCh38]
Chr9:97897655 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.840G>A (p.Ser280=) single nucleotide variant Fanconi anemia [RCV000205819]|Hereditary cancer-predisposing syndrome [RCV000565157]|not provided [RCV003430691]|not specified [RCV000124966] Chr9:95135349 [GRCh38]
Chr9:97897631 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.897-19C>T single nucleotide variant Fanconi anemia [RCV002055531]|not specified [RCV000124967] Chr9:95125204 [GRCh38]
Chr9:97887486 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1073-5C>T single nucleotide variant Fanconi anemia [RCV000380041]|Fanconi anemia complementation group C [RCV001095360]|Hereditary cancer-predisposing syndrome [RCV000568936]|not specified [RCV000124968] Chr9:95114715 [GRCh38]
Chr9:97876997 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) single nucleotide variant Fanconi anemia [RCV000206854]|Hereditary cancer-predisposing syndrome [RCV001010505]|not specified [RCV000124969] Chr9:95111550 [GRCh38]
Chr9:97873832 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1329+111C>T single nucleotide variant FANCC-related disorder [RCV003952650]|Fanconi anemia [RCV001831921]|not specified [RCV000124970] Chr9:95111352 [GRCh38]
Chr9:97873634 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1329+212C>T single nucleotide variant FANCC-related disorder [RCV004748595]|not provided [RCV003237735]|not specified [RCV000124972] Chr9:95111251 [GRCh38]
Chr9:97873533 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) single nucleotide variant Fanconi anemia [RCV000205056]|Fanconi anemia complementation group C [RCV001169817]|Hereditary cancer-predisposing syndrome [RCV000573088]|not provided [RCV001357280]|not specified [RCV000124974] Chr9:95107192 [GRCh38]
Chr9:97869474 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) single nucleotide variant Fanconi anemia [RCV000205120]|Fanconi anemia complementation group C [RCV001167959]|Hereditary cancer-predisposing syndrome [RCV000567268]|Malignant tumor of breast [RCV001356823]|not specified [RCV000124975] Chr9:95107114 [GRCh38]
Chr9:97869396 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000136.3(FANCC):c.*5C>T single nucleotide variant Fanconi anemia [RCV000205839]|Fanconi anemia complementation group C [RCV001167953]|Hereditary cancer-predisposing syndrome [RCV000576112]|Malignant tumor of breast [RCV001357500]|not provided [RCV003457642]|not specified [RCV000124976] Chr9:95101702 [GRCh38]
Chr9:97863984 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.-29A>C single nucleotide variant Fanconi anemia [RCV000396410]|Fanconi anemia complementation group C [RCV001095338]|not provided [RCV004712107]|not specified [RCV000124977] Chr9:95249320 [GRCh38]
Chr9:98011602 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1063G>C (p.Asp355His) single nucleotide variant Fanconi anemia [RCV001300842]|Hereditary cancer-predisposing syndrome [RCV001009799]|not provided [RCV000766565]|not specified [RCV000120968] Chr9:95117324 [GRCh38]
Chr9:97879606 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance|not provided
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) single nucleotide variant Fanconi anemia [RCV001082314]|Fanconi anemia complementation group A [RCV000988205]|Fanconi anemia complementation group C [RCV000709083]|Hereditary cancer-predisposing syndrome [RCV000566496]|not provided [RCV000224016]|not specified [RCV000120969] Chr9:95111636 [GRCh38]
Chr9:97873918 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) single nucleotide variant Fanconi anemia [RCV001082312]|Fanconi anemia complementation group A [RCV000988196]|Fanconi anemia complementation group C [RCV001169818]|Hereditary cancer-predisposing syndrome [RCV000574575]|Malignant tumor of breast [RCV001357248]|not provided [RCV000590373]|not specified [RCV000120970] Chr9:95107205 [GRCh38]
Chr9:97869487 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) single nucleotide variant Fanconi anemia [RCV000323053]|Fanconi anemia complementation group C [RCV001095359]|Hereditary cancer-predisposing syndrome [RCV000564046]|Malignant tumor of breast [RCV001354509]|not provided [RCV000587018]|not specified [RCV000120971] Chr9:95107254 [GRCh38]
Chr9:97869536 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) single nucleotide variant Fanconi anemia [RCV000205771]|Fanconi anemia complementation group C [RCV001509574]|Hereditary cancer-predisposing syndrome [RCV001011455]|not provided [RCV001310662]|not specified [RCV000120972] Chr9:95107185 [GRCh38]
Chr9:97869467 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro) single nucleotide variant Fanconi anemia [RCV001247976]|not specified [RCV000120973] Chr9:95101799 [GRCh38]
Chr9:97864081 [GRCh37]
Chr9:9q22.32		 uncertain significance|not provided
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) single nucleotide variant FANCC-related disorder [RCV003891642]|Fanconi anemia [RCV001083879]|Fanconi anemia complementation group A [RCV000988227]|Fanconi anemia complementation group C [RCV001168031]|Hereditary cancer-predisposing syndrome [RCV000573438]|Malignant tumor of breast [RCV001357504]|not provided [RCV000513630]|not specified [RCV000120974] Chr9:95249215 [GRCh38]
Chr9:98011497 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) single nucleotide variant Fanconi anemia [RCV001826790]|Fanconi anemia complementation group C [RCV000668393]|Hereditary cancer-predisposing syndrome [RCV001014600]|not specified [RCV000120975] Chr9:95247468 [GRCh38]
Chr9:98009750 [GRCh37]
Chr9:9q22.32		 uncertain significance|not provided
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly) single nucleotide variant Fanconi anemia [RCV002517589]|Fanconi anemia complementation group C [RCV005042226]|Hereditary cancer-predisposing syndrome [RCV003352774]|not provided [RCV000766659]|not specified [RCV000120976] Chr9:95172110 [GRCh38]
Chr9:97934392 [GRCh37]
Chr9:9q22.32		 uncertain significance|not provided
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) single nucleotide variant Fanconi anemia [RCV000205371]|Fanconi anemia complementation group A [RCV000988218]|Fanconi anemia complementation group C [RCV001095332]|Hereditary cancer-predisposing syndrome [RCV000575908]|Malignant tumor of breast [RCV001355214]|not provided [RCV000432064]|not specified [RCV000120977] Chr9:95172077 [GRCh38]
Chr9:97934359 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) single nucleotide variant Fanconi anemia [RCV001083500]|Fanconi anemia complementation group A [RCV000988215]|Fanconi anemia complementation group C [RCV000667368]|Hereditary cancer-predisposing syndrome [RCV000124962]|Malignant tumor of breast [RCV001356570]|not provided [RCV000179716]|not specified [RCV000120978] Chr9:95150025 [GRCh38]
Chr9:97912307 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000136.3(FANCC):c.626G>T (p.Arg209Leu) single nucleotide variant not specified [RCV000120980] Chr9:95149983 [GRCh38]
Chr9:97912265 [GRCh37]
Chr9:9q22.32		 not provided
NM_000136.3(FANCC):c.1329+175C>T single nucleotide variant Fanconi anemia [RCV001831912]|Fanconi anemia complementation group C [RCV003315754]|not provided [RCV003430675]|not specified [RCV000120982] Chr9:95111288 [GRCh38]
Chr9:97873570 [GRCh37]
Chr9:9q22.32		 benign|likely benign|not provided
NM_000136.3(FANCC):c.1329+149G>A single nucleotide variant not specified [RCV000120983] Chr9:95111314 [GRCh38]
Chr9:97873596 [GRCh37]
Chr9:9q22.32		 not provided
NM_000136.3(FANCC):c.166-2A>G single nucleotide variant FANCC-related disorder [RCV003407527]|Fanconi anemia [RCV003522928]|Fanconi anemia complementation group C [RCV001729399]|Hereditary cancer-predisposing syndrome [RCV002399490]|not specified [RCV000122403] Chr9:95247518 [GRCh38]
Chr9:98009800 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|not provided
NM_000136.3(FANCC):c.1329+181_1329+183del deletion FANCC-related disorder [RCV003407513]|Fanconi anemia complementation group C [RCV000665686]|not specified [RCV000120981] Chr9:95111280..95111282 [GRCh38]
Chr9:97873562..97873564 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance|not provided
NM_000136.3(FANCC):c.368C>G (p.Ser123Ter) single nucleotide variant not provided [RCV000657685] Chr9:95172125 [GRCh38]
Chr9:97934407 [GRCh37]
Chr9:9q22.32		 likely pathogenic
Single allele deletion Intellectual disability [RCV001293373] Chr9:97834573..107199088 [GRCh37]
Chr9:9q22.32-31.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3		 pathogenic
GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1 copy number loss See cases [RCV000135303] Chr9:94713892..98121186 [GRCh38]
Chr9:97476174..100883468 [GRCh37]
Chr9:96515995..99923289 [NCBI36]
Chr9:9q22.32-22.33		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4 copy number gain See cases [RCV000138068] Chr9:93574616..95115422 [GRCh38]
Chr9:96336898..97877704 [GRCh37]
Chr9:95376719..96917525 [NCBI36]
Chr9:9q22.31-22.32		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) single nucleotide variant FANCC-related disorder [RCV003955217]|Fanconi anemia [RCV000526773]|Fanconi anemia complementation group C [RCV000409441]|Hereditary cancer-predisposing syndrome [RCV001010060]|not provided [RCV000202668] Chr9:95111630 [GRCh38]
Chr9:97873912 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) microsatellite Fanconi anemia [RCV000528984]|Fanconi anemia complementation group C [RCV000410607]|Hereditary cancer-predisposing syndrome [RCV001023180]|not provided [RCV000160466] Chr9:95171110..95171113 [GRCh38]
Chr9:97933392..97933395 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.689AGA[1] (p.Lys231del) microsatellite Fanconi anemia [RCV000470311]|Fanconi anemia complementation group C [RCV005042319]|Hereditary cancer-predisposing syndrome [RCV001025807]|not provided [RCV000160467] Chr9:95135495..95135497 [GRCh38]
Chr9:97897777..97897779 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) duplication FANCC-related disorder [RCV004748608]|Fanconi anemia [RCV000203768]|Fanconi anemia complementation group C [RCV000984265]|Hereditary cancer-predisposing syndrome [RCV002381527]|not provided [RCV000160468] Chr9:95111489..95111490 [GRCh38]
Chr9:97873771..97873772 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) microsatellite FANCC-related disorder [RCV004724948]|Fanconi anemia [RCV000798003]|Fanconi anemia complementation group C [RCV000672163]|Hereditary cancer-predisposing syndrome [RCV001011210]|not provided [RCV000160469] Chr9:95107211..95107212 [GRCh38]
Chr9:97869493..97869494 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) single nucleotide variant Fanconi anemia [RCV000205386]|Fanconi anemia complementation group C [RCV001167422]|Hereditary cancer-predisposing syndrome [RCV002326920]|not provided [RCV000160470] Chr9:95172053 [GRCh38]
Chr9:97934335 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.938C>T (p.Ala313Val) single nucleotide variant Fanconi anemia [RCV001826859]|Hereditary cancer-predisposing syndrome [RCV003162677]|not provided [RCV000160471] Chr9:95125144 [GRCh38]
Chr9:97887426 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.371C>T (p.Ala124Val) single nucleotide variant Fanconi anemia [RCV000799139]|Fanconi anemia complementation group C [RCV001276594]|Hereditary cancer-predisposing syndrome [RCV002345551]|not provided [RCV000160472] Chr9:95172122 [GRCh38]
Chr9:97934404 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) single nucleotide variant Fanconi anemia [RCV000470152]|Fanconi anemia complementation group A [RCV000988216]|Fanconi anemia complementation group C [RCV002492634]|Hereditary cancer-predisposing syndrome [RCV000564307]|not provided [RCV000160473]|not specified [RCV002271426] Chr9:95150055 [GRCh38]
Chr9:97912337 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.556G>A (p.Val186Ile) single nucleotide variant Fanconi anemia [RCV001831980]|Fanconi anemia complementation group C [RCV005049439]|Hereditary cancer-predisposing syndrome [RCV002345552]|not provided [RCV000160474] Chr9:95150053 [GRCh38]
Chr9:97912335 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu) single nucleotide variant Fanconi anemia [RCV000791796]|Hereditary cancer-predisposing syndrome [RCV001025356]|Malignant tumor of breast [RCV001358559]|not provided [RCV000160475] Chr9:95149959 [GRCh38]
Chr9:97912241 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.710C>T (p.Ser237Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298191]|not provided [RCV000160476] Chr9:95135479 [GRCh38]
Chr9:97897761 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.767A>G (p.His256Arg) single nucleotide variant Fanconi anemia [RCV000205450]|Fanconi anemia complementation group C [RCV001276590]|Hereditary cancer-predisposing syndrome [RCV000571601]|not provided [RCV000513268]|not specified [RCV003488408] Chr9:95135422 [GRCh38]
Chr9:97897704 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) single nucleotide variant Fanconi anemia [RCV000206295]|Fanconi anemia complementation group C [RCV002498797]|Hereditary cancer-predisposing syndrome [RCV002415701]|Malignant tumor of breast [RCV001354181]|not provided [RCV000586258]|not specified [RCV001549275] Chr9:95135397 [GRCh38]
Chr9:97897679 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser) single nucleotide variant Fanconi anemia [RCV000233995]|Fanconi anemia complementation group C [RCV001274478]|Hereditary cancer-predisposing syndrome [RCV000562231]|not provided [RCV000160479] Chr9:95135389 [GRCh38]
Chr9:97897671 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser) single nucleotide variant Fanconi anemia [RCV000459016]|Fanconi anemia complementation group C [RCV001274477]|Hereditary cancer-predisposing syndrome [RCV001027088]|not provided [RCV000160480] Chr9:95135387 [GRCh38]
Chr9:97897669 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) single nucleotide variant Fanconi anemia [RCV001085038]|Fanconi anemia complementation group C [RCV000709088]|Hereditary cancer [RCV003492652]|Hereditary cancer-predisposing syndrome [RCV000571755]|Malignant tumor of breast [RCV001355168]|not provided [RCV000160481]|not specified [RCV001194155] Chr9:95135372 [GRCh38]
Chr9:97897654 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.889A>T (p.Met297Leu) single nucleotide variant Fanconi anemia [RCV001826860]|Fanconi anemia complementation group C [RCV002254685]|Hereditary cancer-predisposing syndrome [RCV002372043]|not provided [RCV000160482] Chr9:95126536 [GRCh38]
Chr9:97888818 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.967G>A (p.Val323Ile) single nucleotide variant Fanconi anemia [RCV001826861]|not provided [RCV000160483] Chr9:95125115 [GRCh38]
Chr9:97887397 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1079C>T (p.Pro360Leu) single nucleotide variant Fanconi anemia [RCV002516430]|Fanconi anemia complementation group C [RCV001273993]|Hereditary cancer-predisposing syndrome [RCV002415702]|not provided [RCV000160484] Chr9:95114704 [GRCh38]
Chr9:97876986 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg) single nucleotide variant Fanconi anemia [RCV000630920]|Fanconi anemia complementation group C [RCV001273990]|Hereditary cancer-predisposing syndrome [RCV002345553]|not provided [RCV000160485] Chr9:95111591 [GRCh38]
Chr9:97873873 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) single nucleotide variant Fanconi anemia [RCV000477242]|Fanconi anemia complementation group C [RCV001273988]|Hereditary cancer-predisposing syndrome [RCV000570128]|Malignant tumor of breast [RCV001358089]|not provided [RCV000160486] Chr9:95111543 [GRCh38]
Chr9:97873825 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys) single nucleotide variant Fanconi anemia [RCV001831981]|Fanconi anemia complementation group C [RCV002478484]|Hereditary cancer-predisposing syndrome [RCV001010936]|not provided [RCV000160487]|not specified [RCV003150957] Chr9:95111476 [GRCh38]
Chr9:97873758 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1363G>C (p.Ala455Pro) single nucleotide variant not provided [RCV000160488] Chr9:95107236 [GRCh38]
Chr9:97869518 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) single nucleotide variant Fanconi anemia [RCV000204351]|Fanconi anemia complementation group C [RCV001167958]|Hereditary cancer-predisposing syndrome [RCV001011857]|not provided [RCV000160489] Chr9:95107106 [GRCh38]
Chr9:97869388 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1516T>C (p.Trp506Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390387]|not provided [RCV000160490] Chr9:95107083 [GRCh38]
Chr9:97869365 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1534-5T>G single nucleotide variant Fanconi anemia [RCV000532636]|Fanconi anemia complementation group C [RCV001271440]|Hereditary cancer-predisposing syndrome [RCV002390388]|not provided [RCV000160491] Chr9:95101855 [GRCh38]
Chr9:97864137 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1597T>G (p.Trp533Gly) single nucleotide variant Fanconi anemia [RCV001831982]|Hereditary cancer-predisposing syndrome [RCV002399586]|not provided [RCV000160492] Chr9:95101787 [GRCh38]
Chr9:97864069 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln) single nucleotide variant Fanconi anemia [RCV000630940]|Fanconi anemia complementation group C [RCV003153437]|Hereditary cancer-predisposing syndrome [RCV001012509]|not provided [RCV000160494]|not specified [RCV001818357] Chr9:95101741 [GRCh38]
Chr9:97864023 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) single nucleotide variant Fanconi anemia [RCV002256090]|Fanconi anemia complementation group A [RCV000988226]|Fanconi anemia complementation group C [RCV000709096]|Hereditary cancer-predisposing syndrome [RCV002372044]|not provided [RCV000160495] Chr9:95249165 [GRCh38]
Chr9:98011447 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys) single nucleotide variant Fanconi anemia [RCV000557807]|Fanconi anemia complementation group C [RCV002492635]|Hereditary cancer-predisposing syndrome [RCV001013700]|not provided [RCV000160496] Chr9:95247491 [GRCh38]
Chr9:98009773 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr) single nucleotide variant Fanconi anemia [RCV001831983]|Fanconi anemia complementation group C [RCV002484995]|Hereditary cancer-predisposing syndrome [RCV002426792]|not provided [RCV000160497] Chr9:95247443 [GRCh38]
Chr9:98009725 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.272T>C (p.Ile91Thr) single nucleotide variant not provided [RCV000160498] Chr9:95240722 [GRCh38]
Chr9:98003004 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) single nucleotide variant Fanconi anemia [RCV000472455]|Fanconi anemia complementation group C [RCV000781350]|Hereditary cancer-predisposing syndrome [RCV004019942]|not provided [RCV000160499] Chr9:95240675 [GRCh38]
Chr9:98002957 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.457-18A>G single nucleotide variant Fanconi anemia [RCV001826862]|Fanconi anemia complementation group C [RCV002478485]|not specified [RCV000160500] Chr9:95171161 [GRCh38]
Chr9:97933443 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.522-4A>G single nucleotide variant FANCC-related disorder [RCV003965178]|Fanconi anemia [RCV000200491]|Fanconi anemia complementation group C [RCV000665085]|Hereditary cancer-predisposing syndrome [RCV000561641]|not specified [RCV000160501] Chr9:95150091 [GRCh38]
Chr9:97912373 [GRCh37]
Chr9:9q22.32		 likely pathogenic|benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.531C>T (p.Pro177=) single nucleotide variant Fanconi anemia [RCV000197251]|Hereditary cancer-predisposing syndrome [RCV001023917]|not provided [RCV003422052]|not specified [RCV000160502] Chr9:95150078 [GRCh38]
Chr9:97912360 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) single nucleotide variant FANCC-related disorder [RCV003952799]|Fanconi anemia [RCV000198398]|Fanconi anemia complementation group C [RCV001167956]|Hereditary cancer-predisposing syndrome [RCV000571952]|not specified [RCV000160504] Chr9:95107090 [GRCh38]
Chr9:97869372 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.251-20T>C single nucleotide variant Fanconi anemia [RCV002053925]|Fanconi anemia complementation group C [RCV002492636]|not specified [RCV000160505] Chr9:95240763 [GRCh38]
Chr9:98003045 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.626G>A (p.Arg209His) single nucleotide variant Fanconi anemia [RCV000168381]|Fanconi anemia complementation group C [RCV003144145]|Hereditary cancer-predisposing syndrome [RCV001025063]|not provided [RCV000482249] Chr9:95149983 [GRCh38]
Chr9:97912265 [GRCh37]
Chr9:9q22.32		 pathogenic|likely benign|uncertain significance
NM_000136.3(FANCC):c.996+1G>T single nucleotide variant Fanconi anemia [RCV000458747]|Fanconi anemia complementation group C [RCV000412116]|Hereditary cancer-predisposing syndrome [RCV000574838]|not provided [RCV000254963] Chr9:95125085 [GRCh38]
Chr9:97887367 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1330-3C>T single nucleotide variant Fanconi anemia [RCV001085632]|Fanconi anemia complementation group C [RCV001169819]|Hereditary cancer-predisposing syndrome [RCV000561408]|Malignant tumor of breast [RCV001357537]|not provided [RCV000589933]|not specified [RCV000193376] Chr9:95107272 [GRCh38]
Chr9:97869554 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) single nucleotide variant FANCC-related disorder [RCV003407628]|Fanconi anemia [RCV001390247]|Fanconi anemia complementation group C [RCV000169293]|Hereditary cancer-predisposing syndrome [RCV002362865]|not provided [RCV004719732] Chr9:95249227 [GRCh38]
Chr9:98011509 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) single nucleotide variant Fanconi anemia [RCV001213440]|Fanconi anemia complementation group C [RCV000169411]|Hereditary cancer-predisposing syndrome [RCV002345568]|not provided [RCV003441768] Chr9:95171080 [GRCh38]
Chr9:97933362 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.844-1G>C single nucleotide variant FANCC-related disorder [RCV003398868]|Fanconi anemia [RCV000462508]|Fanconi anemia complementation group C [RCV000169449]|Hereditary cancer-predisposing syndrome [RCV001017779]|not provided [RCV000224795] Chr9:95126582 [GRCh38]
Chr9:97888864 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.843+87T>C single nucleotide variant not specified [RCV000195037] Chr9:95135259 [GRCh38]
Chr9:97897541 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) single nucleotide variant Fanconi anemia [RCV000195408]|Fanconi anemia complementation group C [RCV001292900]|Hereditary cancer-predisposing syndrome [RCV001017074]|not provided [RCV001546836]|not specified [RCV002282033] Chr9:95117339 [GRCh38]
Chr9:97879621 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp) single nucleotide variant Fanconi anemia [RCV000195976]|Fanconi anemia complementation group C [RCV001354801]|Hereditary cancer-predisposing syndrome [RCV001009657]|not provided [RCV000486496]|not specified [RCV001818484] Chr9:95117387 [GRCh38]
Chr9:97879669 [GRCh37]
Chr9:9q22.32		 likely pathogenic|likely benign|uncertain significance
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu) single nucleotide variant Fanconi anemia [RCV000196371] Chr9:95101715 [GRCh38]
Chr9:97863997 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) single nucleotide variant Fanconi anemia [RCV000196637]|Fanconi anemia complementation group C [RCV000709089]|Hereditary cancer-predisposing syndrome [RCV001025536]|not provided [RCV002478703]|not specified [RCV001818486] Chr9:95149941 [GRCh38]
Chr9:97912223 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.1344C>T (p.Ala448=) single nucleotide variant Fanconi anemia [RCV000196675]|Hereditary cancer-predisposing syndrome [RCV001010970] Chr9:95107255 [GRCh38]
Chr9:97869537 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.896+2T>G single nucleotide variant Fanconi anemia [RCV000196695]|not provided [RCV000487051] Chr9:95126527 [GRCh38]
Chr9:97888809 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) single nucleotide variant Fanconi anemia [RCV001406810]|Hereditary cancer-predisposing syndrome [RCV001012464]|not provided [RCV000197391] Chr9:95101761 [GRCh38]
Chr9:97864043 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly) single nucleotide variant Fanconi anemia [RCV000197973]|Fanconi anemia complementation group C [RCV002485318]|Hereditary cancer-predisposing syndrome [RCV001010607] Chr9:95111530 [GRCh38]
Chr9:97873812 [GRCh37]
Chr9:9q22.32		 pathogenic|uncertain significance
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) single nucleotide variant Fanconi anemia [RCV000198094]|Fanconi anemia complementation group C [RCV005049475]|Hereditary cancer-predisposing syndrome [RCV000561073]|not provided [RCV000221697] Chr9:95101795 [GRCh38]
Chr9:97864077 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.346-11_346-10del deletion Fanconi anemia [RCV001426921] Chr9:95172157..95172158 [GRCh38]
Chr9:97934439..97934440 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.549G>T (p.Leu183=) single nucleotide variant FANCC-related disorder [RCV003895271]|Fanconi anemia [RCV000198447]|Hereditary cancer-predisposing syndrome [RCV000562078]|not specified [RCV000418764] Chr9:95150060 [GRCh38]
Chr9:97912342 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) microsatellite Fanconi anemia [RCV000198724]|Fanconi anemia complementation group C [RCV000984173]|Hereditary cancer-predisposing syndrome [RCV002336539] Chr9:95171110..95171111 [GRCh38]
Chr9:97933392..97933393 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1024C>G (p.Pro342Ala) single nucleotide variant Fanconi anemia [RCV000199045]|Hereditary cancer-predisposing syndrome [RCV002381685]|not provided [RCV003322759] Chr9:95117363 [GRCh38]
Chr9:97879645 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-2A>G single nucleotide variant Fanconi anemia [RCV000199622]|Hereditary cancer-predisposing syndrome [RCV002433892] Chr9:95249293 [GRCh38]
Chr9:98011575 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile) single nucleotide variant Fanconi anemia [RCV000199855]|Fanconi anemia complementation group C [RCV002492914]|Hereditary cancer-predisposing syndrome [RCV002381686] Chr9:95107231 [GRCh38]
Chr9:97869513 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) single nucleotide variant Fanconi anemia [RCV000199976]|Fanconi anemia complementation group C [RCV001167954]|Hereditary cancer-predisposing syndrome [RCV001012322]|Ovarian cancer [RCV003153471]|not provided [RCV000520121] Chr9:95101789 [GRCh38]
Chr9:97864071 [GRCh37]
Chr9:9q22.32		 likely pathogenic|benign|uncertain significance
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) single nucleotide variant Fanconi anemia [RCV000200177]|Fanconi anemia complementation group C [RCV000709098]|Hereditary cancer-predisposing syndrome [RCV001016913]|not provided [RCV000218236]|not specified [RCV001818485] Chr9:95249264 [GRCh38]
Chr9:98011546 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala) single nucleotide variant Fanconi anemia [RCV000200314]|Fanconi anemia complementation group C [RCV001276454]|Hereditary cancer-predisposing syndrome [RCV002345716]|not specified [RCV002271459] Chr9:95150044 [GRCh38]
Chr9:97912326 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.843+5G>A single nucleotide variant FANCC-related disorder [RCV004748654]|Fanconi anemia [RCV000200370]|Fanconi anemia complementation group C [RCV000666113]|Hereditary cancer-predisposing syndrome [RCV001017767]|not provided [RCV000486099]|not specified [RCV002509295] Chr9:95135341 [GRCh38]
Chr9:97897623 [GRCh37]
Chr9:9q22.32		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.1533+9C>T single nucleotide variant Fanconi anemia [RCV001458184]|Fanconi anemia complementation group C [RCV000670456] Chr9:95107057 [GRCh38]
Chr9:97869339 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*450G>A single nucleotide variant Fanconi anemia complementation group C [RCV000397276]|not specified [RCV000195156] Chr9:95101257 [GRCh38]
Chr9:97863539 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9q22.32(97579146-99280739)x1 copy number loss Gorlin syndrome [RCV000201243] Chr9:94816864..96518457 [GRCh38]
Chr9:97579146..99280739 [GRCh37]
Chr9:9q22.32-22.33		 pathogenic
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) single nucleotide variant Fanconi anemia [RCV000204426]|Fanconi anemia complementation group C [RCV001333238]|Hereditary cancer-predisposing syndrome [RCV001019959] Chr9:95117389 [GRCh38]
Chr9:97879671 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.2(FANCC):c.997-?_1154+?del deletion Fanconi anemia [RCV000204455]   pathogenic
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala) single nucleotide variant Fanconi anemia [RCV000204465]|Hereditary cancer-predisposing syndrome [RCV002327064] Chr9:95172069 [GRCh38]
Chr9:97934351 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1594A>C (p.Arg532=) single nucleotide variant Fanconi anemia [RCV000204505]|Hereditary cancer-predisposing syndrome [RCV002399766]|not provided [RCV003236789] Chr9:95101790 [GRCh38]
Chr9:97864072 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1300G>A (p.Asp434Asn) single nucleotide variant Fanconi anemia [RCV000204554]|Hereditary cancer-predisposing syndrome [RCV002381710] Chr9:95111492 [GRCh38]
Chr9:97873774 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly) single nucleotide variant Fanconi anemia [RCV000204620]|Hereditary cancer-predisposing syndrome [RCV001026941]|not provided [RCV002478735] Chr9:95135399 [GRCh38]
Chr9:97897681 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr) single nucleotide variant Fanconi anemia [RCV000204741]|Fanconi anemia complementation group C [RCV002503808]|Hereditary cancer-predisposing syndrome [RCV000565449]|not provided [RCV000521377] Chr9:95107086 [GRCh38]
Chr9:97869368 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.679A>G (p.Ile227Val) single nucleotide variant Fanconi anemia [RCV000204753]|Hereditary cancer-predisposing syndrome [RCV001025655]|not provided [RCV000482871] Chr9:95149930 [GRCh38]
Chr9:97912212 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu) single nucleotide variant Fanconi anemia [RCV000204906]|Fanconi anemia complementation group C [RCV002500646]|Hereditary cancer-predisposing syndrome [RCV000572325]|not provided [RCV000485118] Chr9:95135366 [GRCh38]
Chr9:97897648 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg) single nucleotide variant Fanconi anemia [RCV000204965]|Fanconi anemia complementation group C [RCV001273986]|Hereditary cancer-predisposing syndrome [RCV001010361]|not provided [RCV003313058] Chr9:95111536 [GRCh38]
Chr9:97873818 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg) single nucleotide variant Fanconi anemia [RCV000205129]|Hereditary cancer-predisposing syndrome [RCV001010059]|not provided [RCV000484234] Chr9:95111630 [GRCh38]
Chr9:97873912 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys) indel Fanconi anemia [RCV000205177]|Hereditary cancer-predisposing syndrome [RCV003362726]|not provided [RCV001797064] Chr9:95101756..95101757 [GRCh38]
Chr9:97864038..97864039 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) single nucleotide variant Fanconi anemia [RCV000205214]|Fanconi anemia complementation group C [RCV000409033]|not provided [RCV004767149] Chr9:95111502 [GRCh38]
Chr9:97873784 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.609C>T (p.Leu203=) single nucleotide variant Fanconi anemia [RCV000205246]|Fanconi anemia complementation group C [RCV001165847]|Hereditary cancer-predisposing syndrome [RCV001024894]|not provided [RCV001354745]|not specified [RCV000443939] Chr9:95150000 [GRCh38]
Chr9:97912282 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.399T>G (p.Leu133=) single nucleotide variant Fanconi anemia [RCV000205258]|Hereditary cancer-predisposing syndrome [RCV002354584]|not specified [RCV000419095] Chr9:95172094 [GRCh38]
Chr9:97934376 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.166-7T>C single nucleotide variant Fanconi anemia [RCV000205280]|Fanconi anemia complementation group A [RCV000988223]|not provided [RCV001651065]|not specified [RCV000249999] Chr9:95247523 [GRCh38]
Chr9:98009805 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) single nucleotide variant FANCC-related disorder [RCV003967551]|Fanconi anemia [RCV000205349]|Fanconi anemia complementation group C [RCV001167957]|Hereditary cancer-predisposing syndrome [RCV000568553]|not provided [RCV001657994]|not specified [RCV001260352] Chr9:95107105 [GRCh38]
Chr9:97869387 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) single nucleotide variant Fanconi anemia [RCV000205428]|Fanconi anemia complementation group C [RCV001167423]|Hereditary cancer-predisposing syndrome [RCV000570699]|not provided [RCV001705175]|not specified [RCV001818501] Chr9:95172055 [GRCh38]
Chr9:97934337 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.109C>G (p.His37Asp) single nucleotide variant Fanconi anemia [RCV000205596]|Fanconi anemia complementation group C [RCV001276598]|Hereditary cancer-predisposing syndrome [RCV001017291]|not provided [RCV004701268] Chr9:95249183 [GRCh38]
Chr9:98011465 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.924C>G (p.Ala308=) single nucleotide variant Fanconi anemia [RCV001405462]|Hereditary cancer-predisposing syndrome [RCV002372196] Chr9:95125158 [GRCh38]
Chr9:97887440 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.993G>A (p.Lys331=) single nucleotide variant Fanconi anemia [RCV000205627]|Fanconi anemia complementation group C [RCV001274464]|Hereditary cancer-predisposing syndrome [RCV001019916]|not provided [RCV003477690]|not specified [RCV000608632] Chr9:95125089 [GRCh38]
Chr9:97887371 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys) single nucleotide variant FANCC-related disorder [RCV003407725]|Fanconi anemia [RCV000205662]|Hereditary cancer-predisposing syndrome [RCV000564875]|not provided [RCV001753610] Chr9:95101781 [GRCh38]
Chr9:97864063 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.687G>A (p.Leu229=) single nucleotide variant Fanconi anemia [RCV000205895] Chr9:95135502 [GRCh38]
Chr9:97897784 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.844-10_844-8del deletion Fanconi anemia [RCV000206232]|Fanconi anemia complementation group A [RCV000988210]|Fanconi anemia complementation group C [RCV000670094] Chr9:95126589..95126591 [GRCh38]
Chr9:97888871..97888873 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp) single nucleotide variant Fanconi anemia [RCV000206395]|Hereditary cancer-predisposing syndrome [RCV002426960]|not provided [RCV000479585] Chr9:95114702 [GRCh38]
Chr9:97876984 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1330-8T>C single nucleotide variant Fanconi anemia [RCV000206510]|Fanconi anemia complementation group C [RCV000666867] Chr9:95107277 [GRCh38]
Chr9:97869559 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) single nucleotide variant Fanconi anemia [RCV000206563]|Fanconi anemia complementation group C [RCV002291593]|Hereditary cancer-predisposing syndrome [RCV001014138]|not provided [RCV001546776] Chr9:95247480 [GRCh38]
Chr9:98009762 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.915C>T (p.Thr305=) single nucleotide variant Fanconi anemia [RCV000206634]|Fanconi anemia complementation group C [RCV001274471]|Hereditary cancer-predisposing syndrome [RCV001018930]|not provided [RCV001723776] Chr9:95125167 [GRCh38]
Chr9:97887449 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg) single nucleotide variant Fanconi anemia [RCV000203726]|Fanconi anemia complementation group C [RCV001274465]|Hereditary cancer-predisposing syndrome [RCV002381707] Chr9:95125090 [GRCh38]
Chr9:97887372 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.288T>C (p.Cys96=) single nucleotide variant Fanconi anemia [RCV001394395]|Hereditary cancer-predisposing syndrome [RCV002433904]|not provided [RCV000836074] Chr9:95240706 [GRCh38]
Chr9:98002988 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys) single nucleotide variant Fanconi anemia [RCV000206718]|Fanconi anemia complementation group C [RCV002494533]|Hereditary cancer-predisposing syndrome [RCV002426969]|not provided [RCV000221187]|not specified [RCV001824685] Chr9:95247434 [GRCh38]
Chr9:98009716 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) single nucleotide variant Fanconi anemia [RCV000206783]|Hereditary cancer-predisposing syndrome [RCV001010786]|not specified [RCV000429828] Chr9:95111502 [GRCh38]
Chr9:97873784 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.843+4C>T single nucleotide variant Fanconi anemia [RCV000206886]|Fanconi anemia complementation group C [RCV001095298]|Hereditary cancer-predisposing syndrome [RCV000568730]|Malignant tumor of breast [RCV001356265]|not provided [RCV000224721]|not specified [RCV001729458] Chr9:95135342 [GRCh38]
Chr9:97897624 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln) single nucleotide variant Fanconi anemia [RCV000204197]|Fanconi anemia complementation group C [RCV002485337]|Hereditary cancer-predisposing syndrome [RCV001018284]|not provided [RCV000214971] Chr9:95126550 [GRCh38]
Chr9:97888832 [GRCh37]
Chr9:9q22.32		 pathogenic|uncertain significance
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp) single nucleotide variant Fanconi anemia [RCV000204215]|Fanconi anemia complementation group C [RCV002500647]|Hereditary cancer-predisposing syndrome [RCV001026293]|not provided [RCV000487303] Chr9:95135456 [GRCh38]
Chr9:97897738 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.635A>G (p.Gln212Arg) single nucleotide variant Fanconi anemia [RCV001316232]|Hereditary cancer-predisposing syndrome [RCV000561493] Chr9:95149974 [GRCh38]
Chr9:97912256 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys) single nucleotide variant Fanconi anemia [RCV001833231]|Hereditary cancer-predisposing syndrome [RCV003165583]|not provided [RCV000221761] Chr9:95247454 [GRCh38]
Chr9:98009736 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-85C>T single nucleotide variant FANCC-related disorder [RCV003897508]|not specified [RCV000223611] Chr9:95317532 [GRCh38]
Chr9:98079814 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.388G>T (p.Glu130Ter) single nucleotide variant not provided [RCV000219758] Chr9:95172105 [GRCh38]
Chr9:97934387 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro) single nucleotide variant FANCC-related disorder [RCV004748667]|Familial ovarian cancer [RCV001358152]|Fanconi anemia [RCV000477104]|Fanconi anemia complementation group C [RCV003144167]|Hereditary cancer-predisposing syndrome [RCV000575115]|not provided [RCV000221946] Chr9:95171128 [GRCh38]
Chr9:97933410 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1327A>G (p.Met443Val) single nucleotide variant Fanconi anemia [RCV000821830]|Hereditary cancer-predisposing syndrome [RCV001011044]|not provided [RCV000219780] Chr9:95111465 [GRCh38]
Chr9:97873747 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1508C>T (p.Thr503Met) single nucleotide variant FANCC-related disorder [RCV004748668]|Fanconi anemia [RCV000799605]|Fanconi anemia complementation group C [RCV005044460]|Hereditary cancer-predisposing syndrome [RCV001011947]|not provided [RCV000222127] Chr9:95107091 [GRCh38]
Chr9:97869373 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) single nucleotide variant Fanconi anemia [RCV000456548]|Fanconi anemia complementation group A [RCV000988198]|Fanconi anemia complementation group C [RCV000709081]|Hereditary cancer-predisposing syndrome [RCV001011135]|not provided [RCV000220014] Chr9:95107236 [GRCh38]
Chr9:97869518 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.523A>G (p.Met175Val) single nucleotide variant Fanconi anemia [RCV000538286]|Fanconi anemia complementation group C [RCV005044461]|Hereditary cancer-predisposing syndrome [RCV000560923]|not provided [RCV000217754] Chr9:95150086 [GRCh38]
Chr9:97912368 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.175dup (p.Thr59fs) duplication not provided [RCV000220141] Chr9:95247506..95247507 [GRCh38]
Chr9:98009788..98009789 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.880G>T (p.Val294Phe) single nucleotide variant not provided [RCV000215493] Chr9:95126545 [GRCh38]
Chr9:97888827 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys) single nucleotide variant Fanconi anemia [RCV000706885]|Hereditary cancer-predisposing syndrome [RCV001012190]|not provided [RCV000215546]|not specified [RCV003150986] Chr9:95101823 [GRCh38]
Chr9:97864105 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.706A>G (p.Met236Val) single nucleotide variant Fanconi anemia [RCV001368893]|Hereditary cancer-predisposing syndrome [RCV001025994]|not provided [RCV000220492] Chr9:95135483 [GRCh38]
Chr9:97897765 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1329+157C>T single nucleotide variant Fanconi anemia complementation group C [RCV000669327] Chr9:95111306 [GRCh38]
Chr9:97873588 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.251A>G (p.Asp84Gly) single nucleotide variant not provided [RCV000222618] Chr9:95240743 [GRCh38]
Chr9:98003025 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) single nucleotide variant Fanconi anemia [RCV000818572]|Fanconi anemia complementation group C [RCV000505654]|Hereditary cancer-predisposing syndrome [RCV002399801]|not provided [RCV000218828] Chr9:95101721 [GRCh38]
Chr9:97864003 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) single nucleotide variant FANCC-related disorder [RCV003919895]|Fanconi anemia [RCV000630987]|Fanconi anemia complementation group C [RCV001273978]|Hereditary cancer-predisposing syndrome [RCV000566153]|Malignant tumor of breast [RCV001357238]|not provided [RCV001537821]|not specified [RCV000216583] Chr9:95107174 [GRCh38]
Chr9:97869456 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1144C>G (p.Gln382Glu) single nucleotide variant Fanconi anemia [RCV001828093]|Fanconi anemia complementation group C [RCV005044462]|Hereditary cancer-predisposing syndrome [RCV002450653]|not provided [RCV000218892] Chr9:95114639 [GRCh38]
Chr9:97876921 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) single nucleotide variant Fanconi anemia [RCV000630840]|Fanconi anemia complementation group C [RCV001274480]|Hereditary cancer-predisposing syndrome [RCV001026491]|not provided [RCV000221352]|not specified [RCV001797687] Chr9:95135441 [GRCh38]
Chr9:97897723 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) single nucleotide variant Fanconi anemia [RCV000543270]|Fanconi anemia complementation group C [RCV001355318]|Hereditary cancer-predisposing syndrome [RCV001012385]|not provided [RCV000214884] Chr9:95101750 [GRCh38]
Chr9:97864032 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.-81C>G single nucleotide variant not provided [RCV000219071] Chr9:95317528 [GRCh38]
Chr9:98079810 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1073-18A>C single nucleotide variant Fanconi anemia [RCV002055000]|not specified [RCV000223219] Chr9:95114728 [GRCh38]
Chr9:97877010 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.457-7T>C single nucleotide variant Fanconi anemia [RCV000227550]|Fanconi anemia complementation group C [RCV000669135]|Malignant tumor of breast [RCV001355792]|not specified [RCV000441644] Chr9:95171150 [GRCh38]
Chr9:97933432 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.521+1G>A single nucleotide variant FANCC-related disorder [RCV003897513]|Fanconi anemia [RCV000230742]|Fanconi anemia complementation group C [RCV000780230]|Hereditary cancer-predisposing syndrome [RCV001023734]|not provided [RCV003229824] Chr9:95171078 [GRCh38]
Chr9:97933360 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1073-4G>A single nucleotide variant Fanconi anemia [RCV001467053]|Fanconi anemia complementation group C [RCV000666029]|Hereditary cancer-predisposing syndrome [RCV000562007]|not provided [RCV000231256] Chr9:95114714 [GRCh38]
Chr9:97876996 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) single nucleotide variant Fanconi anemia [RCV000229080]|Fanconi anemia complementation group C [RCV001273991]|Hereditary cancer-predisposing syndrome [RCV002347858] Chr9:95111592 [GRCh38]
Chr9:97873874 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) single nucleotide variant Fanconi anemia [RCV000704130]|Fanconi anemia complementation group C [RCV000984264]|Hereditary cancer-predisposing syndrome [RCV001023972]|not provided [RCV000224844] Chr9:95150074 [GRCh38]
Chr9:97912356 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.760A>G (p.Met254Val) single nucleotide variant Fanconi anemia [RCV000231342]|Fanconi anemia complementation group C [RCV001274479]|Hereditary cancer-predisposing syndrome [RCV001026618]|Malignant tumor of breast [RCV001354988]|not provided [RCV001551720] Chr9:95135429 [GRCh38]
Chr9:97897711 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.29dup (p.Cys10fs) duplication Fanconi anemia [RCV000226528]|Fanconi anemia complementation group C [RCV003463635]|Hereditary cancer-predisposing syndrome [RCV002433945]|not provided [RCV000484608] Chr9:95249262..95249263 [GRCh38]
Chr9:98011544..98011545 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1329+5del deletion Fanconi anemia [RCV000226612]|Fanconi anemia complementation group C [RCV000673601] Chr9:95111458 [GRCh38]
Chr9:97873740 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.897-8T>C single nucleotide variant FANCC-related disorder [RCV003907848]|Fanconi anemia [RCV000227769]|Fanconi anemia complementation group C [RCV000665770]|not provided [RCV001722207] Chr9:95125193 [GRCh38]
Chr9:97887475 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.345+4AG[2] microsatellite Fanconi anemia [RCV001080936]|Fanconi anemia complementation group A [RCV000988220]|Fanconi anemia complementation group C [RCV001355201]|not provided [RCV000727370]|not specified [RCV000487298] Chr9:95240640..95240641 [GRCh38]
Chr9:98002922..98002923 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.166-5C>T single nucleotide variant Fanconi anemia [RCV000232327]|Fanconi anemia complementation group A [RCV000988222]|Hereditary cancer-predisposing syndrome [RCV001012621]|not provided [RCV001722206] Chr9:95247521 [GRCh38]
Chr9:98009803 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.433T>C (p.Tyr145His) single nucleotide variant Fanconi anemia [RCV000232538] Chr9:95172060 [GRCh38]
Chr9:97934342 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.996+9dup duplication Fanconi anemia [RCV000230673]|not specified [RCV000481237] Chr9:95125076..95125077 [GRCh38]
Chr9:97887358..97887359 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1257C>A (p.Pro419=) single nucleotide variant Fanconi anemia [RCV001446495]|Hereditary cancer-predisposing syndrome [RCV001010366]|not specified [RCV000610193] Chr9:95111535 [GRCh38]
Chr9:97873817 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.607C>T (p.Leu203Phe) single nucleotide variant Fanconi anemia [RCV000233533]|Hereditary cancer-predisposing syndrome [RCV002354633] Chr9:95150002 [GRCh38]
Chr9:97912284 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1170C>G (p.Pro390=) single nucleotide variant FANCC-related disorder [RCV003982972]|Fanconi anemia [RCV000234196]|Hereditary cancer-predisposing syndrome [RCV001010120]|not provided [RCV001668390] Chr9:95111622 [GRCh38]
Chr9:97873904 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.997-3C>T single nucleotide variant Fanconi anemia [RCV000234602]|Hereditary cancer-predisposing syndrome [RCV002378961]|not provided [RCV003236793] Chr9:95117393 [GRCh38]
Chr9:97879675 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.2(FANCC):c.-78-?_250+?del deletion Fanconi anemia [RCV000228477] Chr9:95247432..95249369 [GRCh38]
Chr9:98009714..98011651 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.654G>A (p.Glu218=) single nucleotide variant FANCC-related disorder [RCV003955298]|Fanconi anemia [RCV000229297]|Hereditary cancer-predisposing syndrome [RCV001025399]|not provided [RCV001697253] Chr9:95149955 [GRCh38]
Chr9:97912237 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.271A>G (p.Ile91Val) single nucleotide variant Fanconi anemia [RCV000687151]|Hereditary cancer-predisposing syndrome [RCV001016395]|not provided [RCV000518928] Chr9:95240723 [GRCh38]
Chr9:98003005 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000136.3(FANCC):c.606T>C (p.Ala202=) single nucleotide variant not specified [RCV000606487] Chr9:95150003 [GRCh38]
Chr9:97912285 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) single nucleotide variant Fanconi anemia [RCV000473343]|Fanconi anemia complementation group A [RCV000988204]|Fanconi anemia complementation group C [RCV003316340]|Hereditary cancer-predisposing syndrome [RCV001010048]|not provided [RCV001705330]|not specified [RCV000253445] Chr9:95111631 [GRCh38]
Chr9:97873913 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.408A>G (p.Gln136=) single nucleotide variant Fanconi anemia [RCV000396417]|Fanconi anemia complementation group C [RCV001095333]|Hereditary cancer-predisposing syndrome [RCV000569297]|Malignant tumor of breast [RCV001357182]|not provided [RCV000588429]|not specified [RCV000241551] Chr9:95172085 [GRCh38]
Chr9:97934367 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000136.3(FANCC):c.996+9T>C single nucleotide variant Fanconi anemia [RCV001493924]|not provided [RCV003478858] Chr9:95125077 [GRCh38]
Chr9:97887359 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) single nucleotide variant Fanconi anemia [RCV001857936]|Fanconi anemia complementation group C [RCV001198452]|Hereditary cancer-predisposing syndrome [RCV001026382]|not provided [RCV000522448] Chr9:95135450 [GRCh38]
Chr9:97897732 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys) single nucleotide variant Fanconi anemia [RCV000530540]|Fanconi anemia complementation group C [RCV002476093]|Hereditary cancer-predisposing syndrome [RCV002377001]|not provided [RCV003148776] Chr9:95149936 [GRCh38]
Chr9:97912218 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1155-38T>C single nucleotide variant Fanconi anemia [RCV001833258]|Fanconi anemia complementation group C [RCV001532805]|not provided [RCV001723833]|not specified [RCV000250108] Chr9:95111675 [GRCh38]
Chr9:97873957 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.*42G>A single nucleotide variant Fanconi anemia complementation group C [RCV000376126]|not provided [RCV001195061]|not specified [RCV000245556] Chr9:95101665 [GRCh38]
Chr9:97863947 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro) single nucleotide variant Fanconi anemia [RCV000529824]|Hereditary cancer-predisposing syndrome [RCV002377002]|not provided [RCV001556604] Chr9:95249284 [GRCh38]
Chr9:98011566 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1467C>T (p.His489=) single nucleotide variant Fanconi anemia [RCV001471901]|Fanconi anemia complementation group C [RCV001273976]|Hereditary cancer-predisposing syndrome [RCV000564689] Chr9:95107132 [GRCh38]
Chr9:97869414 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*1727T>C single nucleotide variant Fanconi anemia complementation group C [RCV000267658] Chr9:95099980 [GRCh38]
Chr9:97862262 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*884C>T single nucleotide variant Fanconi anemia complementation group C [RCV000283790] Chr9:95100823 [GRCh38]
Chr9:97863105 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) single nucleotide variant Fanconi anemia [RCV000284344]|Fanconi anemia complementation group C [RCV001095337]|Hereditary cancer-predisposing syndrome [RCV001012118]|not provided [RCV000519902]|not specified [RCV001821124] Chr9:95101840 [GRCh38]
Chr9:97864122 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*338C>A single nucleotide variant Fanconi anemia [RCV000369321] Chr9:95101369 [GRCh38]
Chr9:97863651 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1895T>C single nucleotide variant Fanconi anemia complementation group C [RCV000394622] Chr9:95099812 [GRCh38]
Chr9:97862094 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.*1879C>T single nucleotide variant Fanconi anemia complementation group C [RCV000302950] Chr9:95099828 [GRCh38]
Chr9:97862110 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.-246A>G single nucleotide variant Fanconi anemia complementation group C [RCV000321715] Chr9:95317693 [GRCh38]
Chr9:98079975 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2085C>A single nucleotide variant Fanconi anemia complementation group C [RCV000345515] Chr9:95099622 [GRCh38]
Chr9:97861904 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.*593C>G single nucleotide variant Fanconi anemia complementation group C [RCV000397279] Chr9:95101114 [GRCh38]
Chr9:97863396 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.*1895T>G single nucleotide variant Fanconi anemia complementation group C [RCV000346754] Chr9:95099812 [GRCh38]
Chr9:97862094 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1045C>T single nucleotide variant Fanconi anemia complementation group C [RCV000346992] Chr9:95100662 [GRCh38]
Chr9:97862944 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*116A>C single nucleotide variant Fanconi anemia complementation group C [RCV000270993]|not provided [RCV001195062] Chr9:95101591 [GRCh38]
Chr9:97863873 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.*667C>T single nucleotide variant Fanconi anemia complementation group C [RCV000286954] Chr9:95101040 [GRCh38]
Chr9:97863322 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*249C>T single nucleotide variant Fanconi anemia complementation group C [RCV000325080] Chr9:95101458 [GRCh38]
Chr9:97863740 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2528A>G single nucleotide variant Fanconi anemia complementation group C [RCV000374166] Chr9:95099179 [GRCh38]
Chr9:97861461 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2296G>A single nucleotide variant Fanconi anemia complementation group C [RCV000348933] Chr9:95099411 [GRCh38]
Chr9:97861693 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1262T>C single nucleotide variant Fanconi anemia complementation group C [RCV000289755] Chr9:95100445 [GRCh38]
Chr9:97862727 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.*97dup duplication Fanconi anemia [RCV000328520] Chr9:95101609..95101610 [GRCh38]
Chr9:97863891..97863892 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-155A>C single nucleotide variant Fanconi anemia complementation group C [RCV000309313]|not provided [RCV000830234]|not specified [RCV000503247] Chr9:95317602 [GRCh38]
Chr9:98079884 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.*1495T>G single nucleotide variant Fanconi anemia complementation group C [RCV000354161] Chr9:95100212 [GRCh38]
Chr9:97862494 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2052G>C single nucleotide variant Fanconi anemia complementation group C [RCV000402825] Chr9:95099655 [GRCh38]
Chr9:97861937 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1968G>A single nucleotide variant Fanconi anemia complementation group C [RCV000310559] Chr9:95099739 [GRCh38]
Chr9:97862021 [GRCh37]
Chr9:9q22.32		 benign|uncertain significance
NM_000136.3(FANCC):c.*1276C>A single nucleotide variant Fanconi anemia complementation group C [RCV000381818] Chr9:95100431 [GRCh38]
Chr9:97862713 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1332A>G single nucleotide variant Fanconi anemia complementation group C [RCV000276745] Chr9:95100375 [GRCh38]
Chr9:97862657 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*254G>A single nucleotide variant Fanconi anemia complementation group C [RCV000277005] Chr9:95101453 [GRCh38]
Chr9:97863735 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2305G>A single nucleotide variant Fanconi anemia complementation group C [RCV000293968] Chr9:95099402 [GRCh38]
Chr9:97861684 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*359A>G single nucleotide variant Fanconi anemia complementation group C [RCV000312338] Chr9:95101348 [GRCh38]
Chr9:97863630 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.*1288T>C single nucleotide variant Fanconi anemia complementation group C [RCV000334241]|not provided [RCV004712775] Chr9:95100419 [GRCh38]
Chr9:97862701 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.*516T>G single nucleotide variant Fanconi anemia complementation group C [RCV000357215] Chr9:95101191 [GRCh38]
Chr9:97863473 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*715AGTT[2] microsatellite Fanconi anemia [RCV000406518] Chr9:95100981..95100984 [GRCh38]
Chr9:97863263..97863266 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*1483T>C single nucleotide variant Fanconi anemia complementation group C [RCV000261661] Chr9:95100224 [GRCh38]
Chr9:97862506 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2128C>T single nucleotide variant Fanconi anemia complementation group C [RCV000295147] Chr9:95099579 [GRCh38]
Chr9:97861861 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*604_*605del deletion Fanconi anemia [RCV000334956] Chr9:95101102..95101103 [GRCh38]
Chr9:97863384..97863385 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*983C>T single nucleotide variant Fanconi anemia complementation group C [RCV000385191] Chr9:95100724 [GRCh38]
Chr9:97863006 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1871G>A single nucleotide variant Fanconi anemia complementation group C [RCV000360013]|not provided [RCV004712774] Chr9:95099836 [GRCh38]
Chr9:97862118 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.*1339C>T single nucleotide variant Fanconi anemia complementation group C [RCV000387500] Chr9:95100368 [GRCh38]
Chr9:97862650 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1516A>G single nucleotide variant Fanconi anemia complementation group C [RCV000296908] Chr9:95100191 [GRCh38]
Chr9:97862473 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg) single nucleotide variant Fanconi anemia complementation group C [RCV000362819]|Hereditary cancer-predisposing syndrome [RCV002356504] Chr9:95249254 [GRCh38]
Chr9:98011536 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2271G>A single nucleotide variant Fanconi anemia complementation group C [RCV000389360] Chr9:95099436 [GRCh38]
Chr9:97861718 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.-225C>T single nucleotide variant Fanconi anemia [RCV001833482]|Fanconi anemia complementation group C [RCV000264260]|not provided [RCV001574533]|not specified [RCV001821125] Chr9:95317672 [GRCh38]
Chr9:98079954 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.*825C>A single nucleotide variant Fanconi anemia complementation group C [RCV000340730] Chr9:95100882 [GRCh38]
Chr9:97863164 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*143A>G single nucleotide variant Fanconi anemia complementation group C [RCV000363324] Chr9:95101564 [GRCh38]
Chr9:97863846 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*576C>T single nucleotide variant Fanconi anemia complementation group C [RCV000299984] Chr9:95101131 [GRCh38]
Chr9:97863413 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-172G>T single nucleotide variant Fanconi anemia complementation group C [RCV000366383] Chr9:95317619 [GRCh38]
Chr9:98079901 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1359C>G single nucleotide variant Fanconi anemia complementation group C [RCV000319143] Chr9:95100348 [GRCh38]
Chr9:97862630 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2552T>C single nucleotide variant Fanconi anemia complementation group C [RCV000319547] Chr9:95099155 [GRCh38]
Chr9:97861437 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1533+50G>A single nucleotide variant not provided [RCV000586812] Chr9:95107016 [GRCh38]
Chr9:97869298 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.665C>A (p.Ala222Asp) single nucleotide variant Fanconi anemia [RCV002258178]|Fanconi anemia complementation group C [RCV001278784]|Hereditary cancer-predisposing syndrome [RCV002366102] Chr9:95149944 [GRCh38]
Chr9:97912226 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln) single nucleotide variant Fanconi anemia [RCV000630855]|Fanconi anemia complementation group C [RCV002476246]|Hereditary cancer-predisposing syndrome [RCV000567484]|not provided [RCV001788294] Chr9:95150073 [GRCh38]
Chr9:97912355 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.522-6C>T single nucleotide variant Fanconi anemia [RCV001440773]|not specified [RCV000605121] Chr9:95150093 [GRCh38]
Chr9:97912375 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.528T>C (p.Ala176=) single nucleotide variant Fanconi anemia [RCV001501358]|Hereditary cancer-predisposing syndrome [RCV002343170]|not specified [RCV000599989] Chr9:95150081 [GRCh38]
Chr9:97912363 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu) single nucleotide variant Fanconi anemia [RCV000527037]|Hereditary cancer-predisposing syndrome [RCV002358436]|not provided [RCV002051864] Chr9:95150018 [GRCh38]
Chr9:97912300 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.896+1G>C single nucleotide variant Fanconi anemia [RCV000530897]|Fanconi anemia complementation group C [RCV005044797] Chr9:95126528 [GRCh38]
Chr9:97888810 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln) single nucleotide variant Fanconi anemia [RCV000552262]|Fanconi anemia complementation group C [RCV002483353]|Hereditary cancer-predisposing syndrome [RCV001025378] Chr9:95149957 [GRCh38]
Chr9:97912239 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-36G>A single nucleotide variant Fanconi anemia [RCV002063019]|not specified [RCV000604496] Chr9:95249327 [GRCh38]
Chr9:98011609 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1664G>A (p.Arg555Gln) single nucleotide variant Fanconi anemia [RCV001050994]|Hereditary cancer-predisposing syndrome [RCV003352901]|not provided [RCV000523634] Chr9:95101720 [GRCh38]
Chr9:97864002 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.12:g.(?_95101697)_(95508371_?)del deletion Gorlin syndrome [RCV000813978] Chr9:95101697..95508371 [GRCh38]
Chr9:97863979..98270653 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.826del (p.Phe275_Ile276insTer) deletion Fanconi anemia [RCV005056479]|Fanconi anemia complementation group C [RCV005046983]|not provided [RCV000722891] Chr9:95135363 [GRCh38]
Chr9:97897645 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn) single nucleotide variant Fanconi anemia [RCV000559515]|Fanconi anemia complementation group C [RCV001274470]|Hereditary cancer-predisposing syndrome [RCV001018955]|not provided [RCV003478127] Chr9:95125166 [GRCh38]
Chr9:97887448 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.34_36del (p.Tyr12del) deletion Fanconi anemia [RCV000557382] Chr9:95249256..95249258 [GRCh38]
Chr9:98011538..98011540 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.240T>C (p.Ile80=) single nucleotide variant Fanconi anemia [RCV003522986]|Hereditary cancer-predisposing syndrome [RCV000573814] Chr9:95247442 [GRCh38]
Chr9:98009724 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) single nucleotide variant Fanconi anemia [RCV000818488]|Fanconi anemia complementation group C [RCV004569262]|Hereditary cancer-predisposing syndrome [RCV000569363] Chr9:95125136 [GRCh38]
Chr9:97887418 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.576C>T (p.Thr192=) single nucleotide variant Fanconi anemia [RCV001493473]|Hereditary cancer-predisposing syndrome [RCV000573631]|not provided [RCV000842680] Chr9:95150033 [GRCh38]
Chr9:97912315 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.117del (p.Gln40fs) deletion Fanconi anemia complementation group C [RCV000408990] Chr9:95249175 [GRCh38]
Chr9:98011457 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) single nucleotide variant Fanconi anemia complementation group C [RCV000409084] Chr9:95107101 [GRCh38]
Chr9:97869383 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.108_109dup (p.His37fs) duplication Fanconi anemia [RCV001850957]|Fanconi anemia complementation group C [RCV000409107] Chr9:95249182..95249183 [GRCh38]
Chr9:98011464..98011465 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) single nucleotide variant Fanconi anemia [RCV001850946]|Fanconi anemia complementation group C [RCV000409398] Chr9:95107082 [GRCh38]
Chr9:97869364 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.686+1G>T single nucleotide variant Fanconi anemia [RCV002523870]|Fanconi anemia complementation group C [RCV000409465] Chr9:95149922 [GRCh38]
Chr9:97912204 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) single nucleotide variant FANCC-related disorder [RCV003897826]|Fanconi anemia [RCV001059596]|Fanconi anemia complementation group C [RCV000409524]|not provided [RCV000657699] Chr9:95101756 [GRCh38]
Chr9:97864038 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) duplication Fanconi anemia complementation group C [RCV000409572] Chr9:95117349..95117350 [GRCh38]
Chr9:97879631..97879632 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.640dup (p.Ile214fs) duplication Fanconi anemia [RCV003635912]|Fanconi anemia complementation group C [RCV000409673] Chr9:95149968..95149969 [GRCh38]
Chr9:97912250..97912251 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1533+1G>C single nucleotide variant Fanconi anemia [RCV001380007]|Fanconi anemia complementation group C [RCV000409707]|Hereditary cancer-predisposing syndrome [RCV002392933] Chr9:95107065 [GRCh38]
Chr9:97869347 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) single nucleotide variant Fanconi anemia [RCV001388954]|Fanconi anemia complementation group C [RCV000409733]|Hereditary cancer-predisposing syndrome [RCV002379264]|not provided [RCV000657572] Chr9:95107266 [GRCh38]
Chr9:97869548 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.457-1G>T single nucleotide variant Fanconi anemia [RCV001377492]|Fanconi anemia complementation group C [RCV000410360] Chr9:95171144 [GRCh38]
Chr9:97933426 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) deletion Fanconi anemia [RCV002523864]|Fanconi anemia complementation group C [RCV000410408] Chr9:95114679..95114680 [GRCh38]
Chr9:97876961..97876962 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1533+2T>C single nucleotide variant Fanconi anemia complementation group C [RCV000410650] Chr9:95107064 [GRCh38]
Chr9:97869346 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.831del (p.Asp278fs) deletion Fanconi anemia complementation group C [RCV000410893] Chr9:95135358 [GRCh38]
Chr9:97897640 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.251-2A>C single nucleotide variant Fanconi anemia [RCV003522962]|Fanconi anemia complementation group C [RCV000410988]|Hereditary cancer-predisposing syndrome [RCV002436231] Chr9:95240745 [GRCh38]
Chr9:98003027 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) single nucleotide variant Fanconi anemia complementation group C [RCV000411700] Chr9:95101785 [GRCh38]
Chr9:97864067 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) single nucleotide variant Fanconi anemia [RCV003635911]|Fanconi anemia complementation group C [RCV000411906]|Hereditary cancer-predisposing syndrome [RCV002379265]|not provided [RCV000657680] Chr9:95111483 [GRCh38]
Chr9:97873765 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) single nucleotide variant Fanconi anemia complementation group C [RCV000412276] Chr9:95240687 [GRCh38]
Chr9:98002969 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1144del (p.Gln382fs) deletion Fanconi anemia complementation group C [RCV000412286] Chr9:95114639 [GRCh38]
Chr9:97876921 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) single nucleotide variant Fanconi anemia [RCV000462409]|Fanconi anemia complementation group C [RCV000412313]|Hereditary cancer-predisposing syndrome [RCV000574200] Chr9:95240655 [GRCh38]
Chr9:98002937 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.345+1del deletion Fanconi anemia complementation group C [RCV000412431] Chr9:95240648 [GRCh38]
Chr9:98002930 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.328C>G (p.Leu110Val) single nucleotide variant Fanconi anemia [RCV000536474]|Hereditary cancer-predisposing syndrome [RCV002448613] Chr9:95240666 [GRCh38]
Chr9:98002948 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser) single nucleotide variant Fanconi anemia [RCV001202318]|Fanconi anemia complementation group C [RCV002491133]|Hereditary cancer-predisposing syndrome [RCV000568036]|not provided [RCV001584391] Chr9:95249188 [GRCh38]
Chr9:98011470 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.12:g.(?_95101700)_(95508367_?)del deletion Fanconi anemia [RCV000553847]|Gorlin syndrome [RCV001381802] Chr9:95101700..95508367 [GRCh38]
Chr9:97863982..98270649 [GRCh37]
Chr9:9q22.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q22.32(chr9:97827936-98639567) copy number gain See cases [RCV000447201] Chr9:97827936..98639567 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.345+18G>C single nucleotide variant not specified [RCV000417443] Chr9:95240631 [GRCh38]
Chr9:98002913 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.345G>A (p.Gln115=) single nucleotide variant Fanconi anemia [RCV000535841]|Hereditary cancer-predisposing syndrome [RCV001020354]|not provided [RCV004591177] Chr9:95240649 [GRCh38]
Chr9:98002931 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1095C>G (p.Leu365=) single nucleotide variant Fanconi anemia [RCV003522971]|Hereditary cancer-predisposing syndrome [RCV004948284]|not specified [RCV000420666] Chr9:95114688 [GRCh38]
Chr9:97876970 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.896+6C>T single nucleotide variant Fanconi anemia [RCV000545626]|not provided [RCV003477912]|not specified [RCV000420740] Chr9:95126523 [GRCh38]
Chr9:97888805 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.138G>A (p.Arg46=) single nucleotide variant Fanconi anemia [RCV003635914]|not specified [RCV000423660] Chr9:95249154 [GRCh38]
Chr9:98011436 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.897-3C>T single nucleotide variant Fanconi anemia [RCV000807447]|Fanconi anemia complementation group C [RCV005044641]|Hereditary cancer-predisposing syndrome [RCV002446690]|not provided [RCV001703825] Chr9:95125188 [GRCh38]
Chr9:97887470 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1072+14G>C single nucleotide variant Fanconi anemia [RCV002063565]|not specified [RCV000430944] Chr9:95117301 [GRCh38]
Chr9:97879583 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.906C>G (p.Leu302=) single nucleotide variant FANCC-related disorder [RCV003950350]|Fanconi anemia [RCV000471086]|Fanconi anemia complementation group C [RCV001274472]|Hereditary cancer-predisposing syndrome [RCV001018770]|not specified [RCV000430981] Chr9:95125176 [GRCh38]
Chr9:97887458 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.250+16G>A single nucleotide variant Fanconi anemia [RCV002065061]|Fanconi anemia complementation group C [RCV002502531]|not specified [RCV000434217] Chr9:95247416 [GRCh38]
Chr9:98009698 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1485G>C (p.Leu495=) single nucleotide variant Fanconi anemia [RCV000631036]|Hereditary cancer-predisposing syndrome [RCV002392952]|not provided [RCV001718826] Chr9:95107114 [GRCh38]
Chr9:97869396 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.457-15G>T single nucleotide variant not specified [RCV000417630] Chr9:95171158 [GRCh38]
Chr9:97933440 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1073-13T>C single nucleotide variant not specified [RCV000420878] Chr9:95114723 [GRCh38]
Chr9:97877005 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-84C>T single nucleotide variant not specified [RCV000423910] Chr9:95317531 [GRCh38]
Chr9:98079813 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1254C>T (p.Pro418=) single nucleotide variant Fanconi anemia [RCV002062523]|Fanconi anemia complementation group C [RCV001273987]|Hereditary cancer-predisposing syndrome [RCV003168648]|not specified [RCV000417856] Chr9:95111538 [GRCh38]
Chr9:97873820 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.686+16T>G single nucleotide variant Fanconi anemia [RCV003522965]|not specified [RCV000417951] Chr9:95149907 [GRCh38]
Chr9:97912189 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-77T>C single nucleotide variant not specified [RCV000424184] Chr9:95249368 [GRCh38]
Chr9:98011650 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1071A>G (p.Gln357=) single nucleotide variant Fanconi anemia complementation group C [RCV001273994]|Hereditary cancer-predisposing syndrome [RCV002418291]|not specified [RCV000431526] Chr9:95117316 [GRCh38]
Chr9:97879598 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1534-16T>C single nucleotide variant not specified [RCV000431756] Chr9:95101866 [GRCh38]
Chr9:97864148 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.844-14T>C single nucleotide variant Fanconi anemia [RCV002061388]|not specified [RCV000438426] Chr9:95126595 [GRCh38]
Chr9:97888877 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-15A>C single nucleotide variant Fanconi anemia [RCV002061387]|Fanconi anemia complementation group C [RCV002502471]|not specified [RCV000428173] Chr9:95135517 [GRCh38]
Chr9:97897799 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.-65C>T single nucleotide variant Fanconi anemia [RCV000860573]|not specified [RCV000435081] Chr9:95249356 [GRCh38]
Chr9:98011638 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.897-18T>C single nucleotide variant not specified [RCV000442398] Chr9:95125203 [GRCh38]
Chr9:97887485 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.468A>G (p.Ser156=) single nucleotide variant Fanconi anemia [RCV000470825]|Hereditary cancer-predisposing syndrome [RCV002328912]|not specified [RCV000418498] Chr9:95171132 [GRCh38]
Chr9:97933414 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.-78-20A>G single nucleotide variant not specified [RCV000428452] Chr9:95249389 [GRCh38]
Chr9:98011671 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.474G>A (p.Ala158=) single nucleotide variant Fanconi anemia [RCV001494264]|Hereditary cancer-predisposing syndrome [RCV000569565]|not provided [RCV001703742]|not specified [RCV004525928] Chr9:95171126 [GRCh38]
Chr9:97933408 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-13C>T single nucleotide variant Fanconi anemia [RCV000864471]|not specified [RCV000428577] Chr9:95249304 [GRCh38]
Chr9:98011586 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.165+10G>A single nucleotide variant Fanconi anemia [RCV002525495]|not specified [RCV000432071] Chr9:95249117 [GRCh38]
Chr9:98011399 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.216A>G (p.Ala72=) single nucleotide variant Fanconi anemia [RCV002059850]|Fanconi anemia complementation group C [RCV001276466]|Hereditary cancer-predisposing syndrome [RCV002418310]|not specified [RCV000439033] Chr9:95247466 [GRCh38]
Chr9:98009748 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1248C>T (p.Ala416=) single nucleotide variant Fanconi anemia [RCV001501743]|Hereditary cancer-predisposing syndrome [RCV002392968]|not specified [RCV000439100] Chr9:95111544 [GRCh38]
Chr9:97873826 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.997-6T>C single nucleotide variant Fanconi anemia [RCV001245747]|not specified [RCV000421715] Chr9:95117396 [GRCh38]
Chr9:97879678 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1305G>C (p.Gly435=) single nucleotide variant Fanconi anemia [RCV001828409]|Hereditary cancer-predisposing syndrome [RCV002379321]|not specified [RCV000425217] Chr9:95111487 [GRCh38]
Chr9:97873769 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.501T>C (p.Asn167=) single nucleotide variant Fanconi anemia [RCV001828401]|Hereditary cancer-predisposing syndrome [RCV001023435]|not specified [RCV000425234] Chr9:95171099 [GRCh38]
Chr9:97933381 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.543G>A (p.Ala181=) single nucleotide variant Fanconi anemia [RCV000875454]|Hereditary cancer-predisposing syndrome [RCV001024109]|not specified [RCV000435618] Chr9:95150066 [GRCh38]
Chr9:97912348 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.250+12A>G single nucleotide variant not specified [RCV000435820] Chr9:95247420 [GRCh38]
Chr9:98009702 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.270A>C (p.Leu90=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004022472]|not specified [RCV000442884] Chr9:95240724 [GRCh38]
Chr9:98003006 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.516A>G (p.Gln172=) single nucleotide variant Fanconi anemia [RCV001851039]|Fanconi anemia complementation group C [RCV001276593]|Hereditary cancer-predisposing syndrome [RCV001023648]|not specified [RCV000442930] Chr9:95171084 [GRCh38]
Chr9:97933366 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.997-15T>C single nucleotide variant Fanconi anemia [RCV003766297]|not specified [RCV000428964] Chr9:95117405 [GRCh38]
Chr9:97879687 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1330-4C>G single nucleotide variant Fanconi anemia [RCV002061604]|Hereditary cancer-predisposing syndrome [RCV001011075]|not specified [RCV000429055] Chr9:95107273 [GRCh38]
Chr9:97869555 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1035T>G (p.Ser345=) single nucleotide variant FANCC-related disorder [RCV003897893]|Fanconi anemia [RCV001426514]|Hereditary cancer-predisposing syndrome [RCV001017090]|not specified [RCV000443217] Chr9:95117352 [GRCh38]
Chr9:97879634 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*10A>C single nucleotide variant not specified [RCV000419459] Chr9:95101697 [GRCh38]
Chr9:97863979 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.336C>T (p.Ser112=) single nucleotide variant Fanconi anemia [RCV003766236]|Fanconi anemia complementation group C [RCV001276464]|Hereditary cancer-predisposing syndrome [RCV002450986]|not provided [RCV001720108] Chr9:95240658 [GRCh38]
Chr9:98002940 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.456+20C>T single nucleotide variant Fanconi anemia [RCV003635913]|not specified [RCV000436260] Chr9:95172017 [GRCh38]
Chr9:97934299 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.166-18T>C single nucleotide variant not specified [RCV000439860] Chr9:95247534 [GRCh38]
Chr9:98009816 [GRCh37]
Chr9:9q22.32		 likely benign
GRCh37/hg19 9q22.32-22.33(chr9:97355862-99805480)x1 copy number loss See cases [RCV000445766] Chr9:97355862..99805480 [GRCh37]
Chr9:9q22.32-22.33		 pathogenic
NM_000136.3(FANCC):c.1073-20G>A single nucleotide variant Fanconi anemia [RCV003522966]|not specified [RCV000419728] Chr9:95114730 [GRCh38]
Chr9:97877012 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1330-11C>T single nucleotide variant Fanconi anemia [RCV005090825]|not specified [RCV000419732] Chr9:95107280 [GRCh38]
Chr9:97869562 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.6T>C (p.Ala2=) single nucleotide variant Fanconi anemia [RCV001483767]|Hereditary cancer-predisposing syndrome [RCV002374680]|not specified [RCV000419853] Chr9:95249286 [GRCh38]
Chr9:98011568 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-18C>G single nucleotide variant Fanconi anemia [RCV001468783]|not specified [RCV000429445] Chr9:95249309 [GRCh38]
Chr9:98011591 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1488C>G (p.Leu496=) single nucleotide variant Fanconi anemia [RCV002061591]|Hereditary cancer-predisposing syndrome [RCV001011832]|not specified [RCV000432951] Chr9:95107111 [GRCh38]
Chr9:97869393 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1524C>T (p.Val508=) single nucleotide variant Fanconi anemia [RCV000912651]|Hereditary cancer-predisposing syndrome [RCV002392967]|not specified [RCV000420032] Chr9:95107075 [GRCh38]
Chr9:97869357 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1560C>T (p.His520=) single nucleotide variant Fanconi anemia [RCV000460738]|Fanconi anemia complementation group C [RCV001274609]|Hereditary cancer-predisposing syndrome [RCV000575734]|not provided [RCV001697831]|not specified [RCV000422537] Chr9:95101824 [GRCh38]
Chr9:97864106 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.1155-13G>C single nucleotide variant Fanconi anemia [RCV003522972]|not specified [RCV000426093] Chr9:95111650 [GRCh38]
Chr9:97873932 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1095C>T (p.Leu365=) single nucleotide variant Fanconi anemia [RCV002521673]|Hereditary cancer-predisposing syndrome [RCV002446692]|not specified [RCV000429673] Chr9:95114688 [GRCh38]
Chr9:97876970 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+14C>G single nucleotide variant not specified [RCV000436586] Chr9:95317512 [GRCh38]
Chr9:98079794 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-61C>G single nucleotide variant Fanconi anemia [RCV001404541]|not specified [RCV000443879] Chr9:95249352 [GRCh38]
Chr9:98011634 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.996+12C>A single nucleotide variant not specified [RCV000430087] Chr9:95125074 [GRCh38]
Chr9:97887356 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-78-18T>G single nucleotide variant Fanconi anemia complementation group C [RCV002502513]|not specified [RCV000436852] Chr9:95249387 [GRCh38]
Chr9:98011669 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.165+12A>G single nucleotide variant Fanconi anemia [RCV001861595]|not specified [RCV000436875] Chr9:95249115 [GRCh38]
Chr9:98011397 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-82C>G single nucleotide variant not specified [RCV000422997] Chr9:95317529 [GRCh38]
Chr9:98079811 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*7C>T single nucleotide variant FANCC-related disorder [RCV003950351]|Fanconi anemia [RCV001828402]|not provided [RCV005001050]|not specified [RCV000433684] Chr9:95101700 [GRCh38]
Chr9:97863982 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.457-12T>A single nucleotide variant Fanconi anemia [RCV002062418]|not provided [RCV001720102] Chr9:95171155 [GRCh38]
Chr9:97933437 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*14C>T single nucleotide variant not specified [RCV000430396] Chr9:95101693 [GRCh38]
Chr9:97863975 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-23A>G single nucleotide variant not specified [RCV000430817] Chr9:95249314 [GRCh38]
Chr9:98011596 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-66C>T single nucleotide variant Fanconi anemia [RCV003635916]|not specified [RCV000444746] Chr9:95249357 [GRCh38]
Chr9:98011639 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.595dup (p.Leu199fs) duplication Carcinoma of colon [RCV000416810]|Hereditary cancer-predisposing syndrome [RCV003165503]|not provided [RCV003227715] Chr9:95150013..95150014 [GRCh38]
Chr9:97912295..97912296 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000136.3(FANCC):c.15A>G (p.Ser5=) single nucleotide variant Fanconi anemia [RCV000474093]|Hereditary cancer-predisposing syndrome [RCV001012303]|not specified [RCV000609588] Chr9:95249277 [GRCh38]
Chr9:98011559 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.-78-17_-78-14del deletion not specified [RCV000483523] Chr9:95249383..95249386 [GRCh38]
Chr9:98011665..98011668 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.897-10C>T single nucleotide variant Fanconi anemia [RCV001502246]|Fanconi anemia complementation group C [RCV005049564] Chr9:95125195 [GRCh38]
Chr9:97887477 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.62T>C (p.Val21Ala) single nucleotide variant not provided [RCV000483808] Chr9:95249230 [GRCh38]
Chr9:98011512 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1329+10A>G single nucleotide variant Fanconi anemia [RCV001438953]|Fanconi anemia complementation group A [RCV000988200] Chr9:95111453 [GRCh38]
Chr9:97873735 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.590A>T (p.Asp197Val) single nucleotide variant Fanconi anemia complementation group C [RCV002481504]|Hereditary cancer-predisposing syndrome [RCV002356770]|not provided [RCV000479725] Chr9:95150019 [GRCh38]
Chr9:97912301 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.485dup (p.Glu163fs) duplication Fanconi anemia [RCV000463391]|Fanconi anemia complementation group C [RCV004568043] Chr9:95171114..95171115 [GRCh38]
Chr9:97933396..97933397 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) deletion Fanconi anemia [RCV003635918]|Fanconi anemia complementation group C [RCV004568195]|Hereditary cancer-predisposing syndrome [RCV004023167]|not provided [RCV000482484] Chr9:95117343..95117344 [GRCh38]
Chr9:97879625..97879626 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) deletion Fanconi anemia [RCV001865464]|Fanconi anemia complementation group C [RCV001273977]|Hereditary cancer-predisposing syndrome [RCV001011612]|not provided [RCV000480099] Chr9:95107153..95107155 [GRCh38]
Chr9:97869435..97869437 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.896+13_896+48del deletion Fanconi anemia [RCV002056777]|not specified [RCV000480101] Chr9:95126481..95126516 [GRCh38]
Chr9:97888763..97888798 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.238A>G (p.Ile80Val) single nucleotide variant Fanconi anemia complementation group C [RCV001276465]|Hereditary cancer-predisposing syndrome [RCV002455910]|not provided [RCV000480272] Chr9:95247444 [GRCh38]
Chr9:98009726 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1633A>C (p.Lys545Gln) single nucleotide variant not provided [RCV000484214] Chr9:95101751 [GRCh38]
Chr9:97864033 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.866C>T (p.Ala289Val) single nucleotide variant Fanconi anemia [RCV002526536]|Hereditary cancer-predisposing syndrome [RCV002446921]|not provided [RCV000484257] Chr9:95126559 [GRCh38]
Chr9:97888841 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1067C>A (p.Pro356His) single nucleotide variant Fanconi anemia [RCV000460007]|Fanconi anemia complementation group C [RCV002489057]|Hereditary cancer-predisposing syndrome [RCV003168814] Chr9:95117320 [GRCh38]
Chr9:97879602 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-79G>A single nucleotide variant not provided [RCV000480418] Chr9:95317526 [GRCh38]
Chr9:98079808 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) single nucleotide variant Fanconi anemia [RCV000464009]|Hereditary cancer-predisposing syndrome [RCV000563695]|not provided [RCV001613308] Chr9:95107069 [GRCh38]
Chr9:97869351 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser) single nucleotide variant Fanconi anemia [RCV000467727]|Fanconi anemia complementation group C [RCV001276457]|Hereditary cancer-predisposing syndrome [RCV002339166]|not provided [RCV001560667] Chr9:95171091 [GRCh38]
Chr9:97933373 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) deletion Fanconi anemia complementation group C [RCV000477851]|not provided [RCV001092276] Chr9:95172133..95172137 [GRCh38]
Chr9:97934415..97934419 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.595del (p.Leu199fs) deletion Fanconi anemia [RCV002525919]|Hereditary cancer-predisposing syndrome [RCV002356785]|not provided [RCV000483255] Chr9:95150014 [GRCh38]
Chr9:97912296 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) single nucleotide variant FANCC-related disorder [RCV003409651]|Fanconi anemia [RCV001243848]|Fanconi anemia complementation group A [RCV000988211]|Hereditary cancer-predisposing syndrome [RCV001017686]|not provided [RCV000484866] Chr9:95135350 [GRCh38]
Chr9:97897632 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) single nucleotide variant Fanconi anemia [RCV000803094]|Fanconi anemia complementation group C [RCV001274481]|Hereditary cancer-predisposing syndrome [RCV001026459]|not provided [RCV000484872] Chr9:95135444 [GRCh38]
Chr9:97897726 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro) single nucleotide variant Fanconi anemia [RCV000464277]|Hereditary cancer-predisposing syndrome [RCV002402273]|not provided [RCV003477980]|not specified [RCV001293620] Chr9:95135419 [GRCh38]
Chr9:97897701 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.473C>T (p.Ala158Val) single nucleotide variant Fanconi anemia [RCV001066884]|Fanconi anemia complementation group C [RCV005049565]|Hereditary cancer-predisposing syndrome [RCV002341128]|not provided [RCV000485063] Chr9:95171127 [GRCh38]
Chr9:97933409 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.17T>G (p.Val6Gly) single nucleotide variant Fanconi anemia [RCV001834563]|not provided [RCV000485074] Chr9:95249275 [GRCh38]
Chr9:98011557 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis) indel Fanconi anemia complementation group C [RCV002506162]|not specified [RCV000485198] Chr9:95107241..95107244 [GRCh38]
Chr9:97869523..97869526 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.686+5G>A single nucleotide variant Fanconi anemia [RCV001835814]|Fanconi anemia complementation group C [RCV004554786]|Hereditary cancer-predisposing syndrome [RCV002367634]|not provided [RCV000485260] Chr9:95149918 [GRCh38]
Chr9:97912200 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.584A>G (p.Asp195Gly) single nucleotide variant Fanconi anemia [RCV000471913] Chr9:95150025 [GRCh38]
Chr9:97912307 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.455dup (p.Asn152fs) duplication Fanconi anemia [RCV000465895]|Fanconi anemia complementation group C [RCV000590358]|Hereditary cancer-predisposing syndrome [RCV001022696]|not provided [RCV000482020] Chr9:95172037..95172038 [GRCh38]
Chr9:97934319..97934320 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) single nucleotide variant Fanconi anemia [RCV001035863]|Fanconi anemia complementation group C [RCV000984263]|Hereditary cancer-predisposing syndrome [RCV002413322]|not provided [RCV000483955] Chr9:95117318 [GRCh38]
Chr9:97879600 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) single nucleotide variant Fanconi anemia [RCV001835813]|Fanconi anemia complementation group C [RCV000984174]|not provided [RCV000484266] Chr9:95135381 [GRCh38]
Chr9:97897663 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.995A>G (p.Gln332Arg) single nucleotide variant Fanconi anemia [RCV003766671]|Hereditary cancer-predisposing syndrome [RCV002383914]|not provided [RCV000481225] Chr9:95125087 [GRCh38]
Chr9:97887369 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.16G>C (p.Val6Leu) single nucleotide variant not provided [RCV000481288] Chr9:95249276 [GRCh38]
Chr9:98011558 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.934A>C (p.Ile312Leu) single nucleotide variant not provided [RCV000485462] Chr9:95125148 [GRCh38]
Chr9:97887430 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) single nucleotide variant Fanconi anemia [RCV000630858]|Fanconi anemia complementation group C [RCV001274615]|Hereditary cancer-predisposing syndrome [RCV000570574]|not provided [RCV000485470]|not specified [RCV002222522] Chr9:95111548 [GRCh38]
Chr9:97873830 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.957G>A (p.Thr319=) single nucleotide variant Fanconi anemia [RCV000457234]|Fanconi anemia complementation group C [RCV001274466]|Hereditary cancer-predisposing syndrome [RCV001019507]|not provided [RCV001721536] Chr9:95125125 [GRCh38]
Chr9:97887407 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.620A>T (p.His207Leu) single nucleotide variant Fanconi anemia [RCV000469377]|Fanconi anemia complementation group C [RCV000766067]|Hereditary cancer-predisposing syndrome [RCV002365644]|not provided [RCV000480838] Chr9:95149989 [GRCh38]
Chr9:97912271 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) single nucleotide variant Fanconi anemia [RCV000630962]|Fanconi anemia complementation group C [RCV002475940]|Hereditary cancer-predisposing syndrome [RCV001019882]|not provided [RCV000481385] Chr9:95125092 [GRCh38]
Chr9:97887374 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.233C>A (p.Pro78His) single nucleotide variant Fanconi anemia [RCV000531726]|Fanconi anemia complementation group C [RCV001276595]|Hereditary cancer-predisposing syndrome [RCV002446920]|not provided [RCV000481574]|not specified [RCV002469168] Chr9:95247449 [GRCh38]
Chr9:98009731 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys) single nucleotide variant Fanconi anemia [RCV000541774]|Fanconi anemia complementation group C [RCV001274484]|Hereditary cancer-predisposing syndrome [RCV002367626]|not provided [RCV000485594] Chr9:95149984 [GRCh38]
Chr9:97912266 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.112G>A (p.Val38Met) single nucleotide variant Fanconi anemia [RCV001372710]|Fanconi anemia complementation group C [RCV005044712]|Hereditary cancer-predisposing syndrome [RCV000572751]|not provided [RCV000767198]|not specified [RCV000485675] Chr9:95249180 [GRCh38]
Chr9:98011462 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1014G>A (p.Lys338=) single nucleotide variant Fanconi anemia [RCV001834568]|Hereditary cancer-predisposing syndrome [RCV002329158]|not provided [RCV000485919] Chr9:95117373 [GRCh38]
Chr9:97879655 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.826A>G (p.Ile276Val) single nucleotide variant Fanconi anemia [RCV000476396]|Hereditary cancer-predisposing syndrome [RCV001027342]|not provided [RCV002274034] Chr9:95135363 [GRCh38]
Chr9:97897645 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.860A>G (p.His287Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446942]|not provided [RCV000481958] Chr9:95126565 [GRCh38]
Chr9:97888847 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.349G>A (p.Val117Ile) single nucleotide variant Fanconi anemia [RCV001835817]|Hereditary cancer-predisposing syndrome [RCV003168961]|not provided [RCV000482048] Chr9:95172144 [GRCh38]
Chr9:97934426 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys) single nucleotide variant Fanconi anemia [RCV002525805]|Fanconi anemia complementation group C [RCV001276467]|Hereditary cancer-predisposing syndrome [RCV002350058]|not provided [RCV000482075] Chr9:95249257 [GRCh38]
Chr9:98011539 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1357C>T (p.Leu453Phe) single nucleotide variant Fanconi anemia complementation group C [RCV001273981]|Hereditary cancer-predisposing syndrome [RCV003298547]|not provided [RCV000486462] Chr9:95107242 [GRCh38]
Chr9:97869524 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.443G>C (p.Gly148Ala) single nucleotide variant not provided [RCV000477975] Chr9:95172050 [GRCh38]
Chr9:97934332 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.532G>A (p.Glu178Lys) single nucleotide variant Fanconi anemia [RCV000548500]|Fanconi anemia complementation group C [RCV001276456]|Hereditary cancer-predisposing syndrome [RCV001023937]|not provided [RCV000482270] Chr9:95150077 [GRCh38]
Chr9:97912359 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.598G>C (p.Val200Leu) single nucleotide variant Fanconi anemia [RCV001213468]|Fanconi anemia complementation group C [RCV005044715]|Hereditary cancer-predisposing syndrome [RCV001024759]|not provided [RCV000482367] Chr9:95150011 [GRCh38]
Chr9:97912293 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.425C>A (p.Pro142His) single nucleotide variant Fanconi anemia [RCV001828498]|Hereditary cancer-predisposing syndrome [RCV003298546]|not provided [RCV000486753] Chr9:95172068 [GRCh38]
Chr9:97934350 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe) single nucleotide variant Fanconi anemia [RCV000458171] Chr9:95114690 [GRCh38]
Chr9:97876972 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met) single nucleotide variant Fanconi anemia [RCV000702767]|Hereditary cancer-predisposing syndrome [RCV002413315]|Malignant tumor of breast [RCV001355099]|not provided [RCV000478222] Chr9:95111528 [GRCh38]
Chr9:97873810 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.166-4_166-1dup duplication Fanconi anemia [RCV001851195]|Fanconi anemia complementation group C [RCV003144281]|Hereditary cancer-predisposing syndrome [RCV001012642]|not provided [RCV004591424] Chr9:95247516..95247517 [GRCh38]
Chr9:98009798..98009799 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.1492G>A (p.Ala498Thr) single nucleotide variant not provided [RCV000482465] Chr9:95107107 [GRCh38]
Chr9:97869389 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe) single nucleotide variant Fanconi anemia [RCV000469467]|Hereditary cancer-predisposing syndrome [RCV002402274] Chr9:95249136 [GRCh38]
Chr9:98011418 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.603G>T (p.Glu201Asp) single nucleotide variant Fanconi anemia [RCV000473274] Chr9:95150006 [GRCh38]
Chr9:97912288 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln) single nucleotide variant Fanconi anemia [RCV000477124]|Hereditary cancer-predisposing syndrome [RCV002429515]|not specified [RCV000503113] Chr9:95240732 [GRCh38]
Chr9:98003014 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) single nucleotide variant Fanconi anemia [RCV001247526]|Fanconi anemia complementation group A [RCV000988195]|Fanconi anemia complementation group C [RCV002481503]|Hereditary cancer-predisposing syndrome [RCV001011411]|not provided [RCV000487102]|not specified [RCV001328458] Chr9:95107193 [GRCh38]
Chr9:97869475 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.364C>T (p.Leu122Phe) single nucleotide variant Fanconi anemia complementation group C [RCV001276462]|Hereditary cancer-predisposing syndrome [RCV002350075]|not provided [RCV000487162] Chr9:95172129 [GRCh38]
Chr9:97934411 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.538G>A (p.Val180Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024022]|not provided [RCV000487194] Chr9:95150071 [GRCh38]
Chr9:97912353 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.338G>C (p.Trp113Ser) single nucleotide variant Fanconi anemia [RCV001257238]|Fanconi anemia complementation group C [RCV005049566]|Hereditary cancer-predisposing syndrome [RCV002455913]|not provided [RCV000487250] Chr9:95240656 [GRCh38]
Chr9:98002938 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-3A>G single nucleotide variant FANCC-related disorder [RCV003900012]|Hereditary cancer-predisposing syndrome [RCV004023105]|not specified [RCV000487252] Chr9:95249294 [GRCh38]
Chr9:98011576 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1502G>A (p.Gly501Asp) single nucleotide variant Fanconi anemia [RCV001851233]|Hereditary cancer-predisposing syndrome [RCV002395170]|not provided [RCV000487343] Chr9:95107097 [GRCh38]
Chr9:97869379 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln) single nucleotide variant Fanconi anemia [RCV000466061]|Fanconi anemia complementation group C [RCV002481439]|Hereditary cancer-predisposing syndrome [RCV001023751]|not provided [RCV002244938] Chr9:95171079 [GRCh38]
Chr9:97933361 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.783A>C (p.Leu261=) single nucleotide variant Fanconi anemia [RCV001413902] Chr9:95135406 [GRCh38]
Chr9:97897688 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1252_1253delinsGA (p.Pro418Asp) indel Fanconi anemia [RCV001349481]|Hereditary cancer-predisposing syndrome [RCV001010546]|not provided [RCV003156245] Chr9:95111539..95111540 [GRCh38]
Chr9:97873821..97873822 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.551C>T (p.Ser184Leu) single nucleotide variant Fanconi anemia [RCV001063298]|Hereditary cancer-predisposing syndrome [RCV004023148]|not provided [RCV000483167] Chr9:95150058 [GRCh38]
Chr9:97912340 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg) single nucleotide variant Fanconi anemia [RCV000806505]|Hereditary cancer-predisposing syndrome [RCV002374890]|not provided [RCV000483173] Chr9:95111633 [GRCh38]
Chr9:97873915 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.287G>A (p.Cys96Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436527]|not provided [RCV000483266] Chr9:95240707 [GRCh38]
Chr9:98002989 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1534-5del deletion Fanconi anemia [RCV000458841]|Fanconi anemia complementation group C [RCV001271439]|not provided [RCV002461222]|not specified [RCV000610407] Chr9:95101855 [GRCh38]
Chr9:97864137 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000136.3(FANCC):c.164T>C (p.Met55Thr) single nucleotide variant Fanconi anemia [RCV000462577] Chr9:95249128 [GRCh38]
Chr9:98011410 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu) single nucleotide variant Fanconi anemia [RCV001042878]|Fanconi anemia complementation group C [RCV002506160]|Hereditary cancer-predisposing syndrome [RCV002395145]|not provided [RCV000478964] Chr9:95101751 [GRCh38]
Chr9:97864033 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.165+7A>G single nucleotide variant not specified [RCV000504194] Chr9:95249120 [GRCh38]
Chr9:98011402 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3 copy number gain See cases [RCV000510672] Chr9:97553176..102919383 [GRCh37]
Chr9:9q22.32-31.1		 likely pathogenic
GRCh37/hg19 9q22.32-22.33(chr9:96732332-100175689)x1 copy number loss See cases [RCV000510346] Chr9:96732332..100175689 [GRCh37]
Chr9:9q22.32-22.33		 pathogenic
NM_000136.3(FANCC):c.896+7G>A single nucleotide variant Fanconi anemia [RCV000560583] Chr9:95126522 [GRCh38]
Chr9:97888804 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.34T>G (p.Tyr12Asp) single nucleotide variant Fanconi anemia [RCV000630865]|Hereditary cancer-predisposing syndrome [RCV001020467] Chr9:95249258 [GRCh38]
Chr9:98011540 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) single nucleotide variant Fanconi anemia [RCV000631004]|Fanconi anemia complementation group C [RCV001273995]|Hereditary cancer-predisposing syndrome [RCV001017047] Chr9:95117364 [GRCh38]
Chr9:97879646 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.250G>A (p.Asp84Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301935] Chr9:95247432 [GRCh38]
Chr9:98009714 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.491A>G (p.Asn164Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301936] Chr9:95171109 [GRCh38]
Chr9:97933391 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1545T>A (p.Thr515=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301937] Chr9:95101839 [GRCh38]
Chr9:97864121 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg) single nucleotide variant Fanconi anemia [RCV000538115]|Fanconi anemia complementation group C [RCV002483354]|Hereditary cancer-predisposing syndrome [RCV002384042] Chr9:95125092 [GRCh38]
Chr9:97887374 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1155-16T>G single nucleotide variant Fanconi anemia [RCV003635927]|not specified [RCV000603108] Chr9:95111653 [GRCh38]
Chr9:97873935 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1179C>T (p.Ser393=) single nucleotide variant Fanconi anemia [RCV000864984]|Hereditary cancer-predisposing syndrome [RCV000575399] Chr9:95111613 [GRCh38]
Chr9:97873895 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-41A>G single nucleotide variant Fanconi anemia [RCV000877967]|not specified [RCV000603469] Chr9:95249332 [GRCh38]
Chr9:98011614 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-65C>G single nucleotide variant Fanconi anemia [RCV002065346]|not specified [RCV000604003] Chr9:95249356 [GRCh38]
Chr9:98011638 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile) single nucleotide variant Fanconi anemia [RCV000630823]|Hereditary cancer-predisposing syndrome [RCV003162793] Chr9:95171109 [GRCh38]
Chr9:97933391 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro) single nucleotide variant Fanconi anemia [RCV000630836]|Hereditary cancer-predisposing syndrome [RCV004948483] Chr9:95107067 [GRCh38]
Chr9:97869349 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys) single nucleotide variant Fanconi anemia [RCV000630877]|Hereditary cancer-predisposing syndrome [RCV002387999] Chr9:95107081 [GRCh38]
Chr9:97869363 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1361T>C (p.Leu454Pro) single nucleotide variant Fanconi anemia [RCV000630883]|Hereditary cancer-predisposing syndrome [RCV003302984] Chr9:95107238 [GRCh38]
Chr9:97869520 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln) single nucleotide variant Fanconi anemia [RCV000630907]|Hereditary cancer-predisposing syndrome [RCV001017222]|not provided [RCV004588056] Chr9:95114701 [GRCh38]
Chr9:97876983 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile) single nucleotide variant Fanconi anemia [RCV000539575]|Hereditary cancer-predisposing syndrome [RCV004023746] Chr9:95107269 [GRCh38]
Chr9:97869551 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) single nucleotide variant Fanconi anemia [RCV001484609]|Fanconi anemia complementation group C [RCV001169820]|Hereditary cancer-predisposing syndrome [RCV002385981]|not provided [RCV000631015] Chr9:95111511 [GRCh38]
Chr9:97873793 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.926T>G (p.Leu309Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574081] Chr9:95125156 [GRCh38]
Chr9:97887438 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-48G>A single nucleotide variant Fanconi anemia [RCV000870387]|not specified [RCV000600703] Chr9:95249339 [GRCh38]
Chr9:98011621 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-35C>T single nucleotide variant not specified [RCV000600811] Chr9:95249326 [GRCh38]
Chr9:98011608 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) single nucleotide variant Fanconi anemia [RCV001394428]|Fanconi anemia complementation group A [RCV000988201]|Hereditary cancer-predisposing syndrome [RCV002448612]|not provided [RCV003478125] Chr9:95111517 [GRCh38]
Chr9:97873799 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.166-3C>T single nucleotide variant Fanconi anemia [RCV001835855]|Hereditary cancer-predisposing syndrome [RCV000572365] Chr9:95247519 [GRCh38]
Chr9:98009801 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1312_1329+68dup duplication Fanconi anemia [RCV000556224] Chr9:95111394..95111395 [GRCh38]
Chr9:97873676..97873677 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.950T>G (p.Val317Gly) single nucleotide variant Fanconi anemia complementation group C [RCV001274468]|Hereditary cancer-predisposing syndrome [RCV000569944]|not provided [RCV004773022] Chr9:95125132 [GRCh38]
Chr9:97887414 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1042C>G (p.Leu348Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301944] Chr9:95117345 [GRCh38]
Chr9:97879627 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys) single nucleotide variant Fanconi anemia [RCV000534368]|Fanconi anemia complementation group C [RCV001273996]|Hereditary cancer-predisposing syndrome [RCV002367772]|not provided [RCV002266982] Chr9:95117368 [GRCh38]
Chr9:97879650 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) single nucleotide variant Fanconi anemia [RCV000630830]|Fanconi anemia complementation group C [RCV001274476]|Hereditary cancer-predisposing syndrome [RCV002438645]|not provided [RCV001766341]|not specified [RCV002469224] Chr9:95135354 [GRCh38]
Chr9:97897636 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.521+10_521+13del deletion Fanconi anemia [RCV000630997]|not specified [RCV001731821] Chr9:95171066..95171069 [GRCh38]
Chr9:97933348..97933351 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.891G>T (p.Met297Ile) single nucleotide variant Fanconi anemia [RCV000555718]|Hereditary cancer-predisposing syndrome [RCV002448614] Chr9:95126534 [GRCh38]
Chr9:97888816 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.327A>G (p.Lys109=) single nucleotide variant Fanconi anemia [RCV003635922]|Hereditary cancer-predisposing syndrome [RCV003338682]|Malignant tumor of breast [RCV001356985]|not specified [RCV000612386] Chr9:95240667 [GRCh38]
Chr9:98002949 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1611C>A (p.Gly537=) single nucleotide variant Fanconi anemia [RCV000631009]|Fanconi anemia complementation group C [RCV001274608]|Hereditary cancer-predisposing syndrome [RCV002395619]|not provided [RCV003431152]|not specified [RCV000615257] Chr9:95101773 [GRCh38]
Chr9:97864055 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.882T>C (p.Val294=) single nucleotide variant Fanconi anemia [RCV000540983]|Hereditary cancer-predisposing syndrome [RCV001018383]|not provided [RCV001653887] Chr9:95126543 [GRCh38]
Chr9:97888825 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.738C>T (p.His246=) single nucleotide variant Fanconi anemia [RCV001401904]|Hereditary cancer-predisposing syndrome [RCV002385927]|not specified [RCV000612752] Chr9:95135451 [GRCh38]
Chr9:97897733 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1330-9A>G single nucleotide variant Fanconi anemia [RCV000871873]|not specified [RCV000606148] Chr9:95107278 [GRCh38]
Chr9:97869560 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.547C>T (p.Leu183=) single nucleotide variant Fanconi anemia [RCV003767584]|Hereditary cancer-predisposing syndrome [RCV004619353]|not specified [RCV000613183] Chr9:95150062 [GRCh38]
Chr9:97912344 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+11G>C single nucleotide variant not specified [RCV000610449] Chr9:95317515 [GRCh38]
Chr9:98079797 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1072+20G>A single nucleotide variant Fanconi anemia [RCV003635926]|not specified [RCV000613487] Chr9:95117295 [GRCh38]
Chr9:97879577 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-6T>G single nucleotide variant not specified [RCV000602566] Chr9:95249297 [GRCh38]
Chr9:98011579 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.590A>C (p.Asp197Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296419]|not provided [RCV005001367] Chr9:95150019 [GRCh38]
Chr9:97912301 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1317A>G (p.Arg439=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385912]|not provided [RCV001697515] Chr9:95111475 [GRCh38]
Chr9:97873757 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-71G>A single nucleotide variant Fanconi anemia [RCV001455080]|not specified [RCV000608577] Chr9:95249362 [GRCh38]
Chr9:98011644 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+13C>T single nucleotide variant not specified [RCV000611302] Chr9:95317513 [GRCh38]
Chr9:98079795 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.46A>T (p.Met16Leu) single nucleotide variant Fanconi anemia [RCV000630906]|Hereditary cancer-predisposing syndrome [RCV003162794]|not provided [RCV003238790] Chr9:95249246 [GRCh38]
Chr9:98011528 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.90C>G (p.Thr30=) single nucleotide variant Fanconi anemia [RCV002062932]|Hereditary cancer-predisposing syndrome [RCV002377251]|not specified [RCV000611416] Chr9:95249202 [GRCh38]
Chr9:98011484 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.222T>C (p.Ala74=) single nucleotide variant Fanconi anemia [RCV001459088] Chr9:95247460 [GRCh38]
Chr9:98009742 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.251-2A>G single nucleotide variant Fanconi anemia [RCV000558309] Chr9:95240745 [GRCh38]
Chr9:98003027 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.-19C>A single nucleotide variant Fanconi anemia [RCV000876777]|not specified [RCV000611628] Chr9:95249310 [GRCh38]
Chr9:98011592 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.207A>G (p.Gln69=) single nucleotide variant Fanconi anemia [RCV002529715]|Hereditary cancer-predisposing syndrome [RCV002420624]|not specified [RCV000614472] Chr9:95247475 [GRCh38]
Chr9:98009757 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1107G>A (p.Lys369=) single nucleotide variant Fanconi anemia [RCV001829722]|Hereditary cancer-predisposing syndrome [RCV002438595]|not specified [RCV000603622] Chr9:95114676 [GRCh38]
Chr9:97876958 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.843+14T>A single nucleotide variant not specified [RCV000611907] Chr9:95135332 [GRCh38]
Chr9:97897614 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1330-6G>T single nucleotide variant Fanconi anemia [RCV001434468]|Fanconi anemia complementation group C [RCV001274612]|not specified [RCV000611937] Chr9:95107275 [GRCh38]
Chr9:97869557 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.251-11C>T single nucleotide variant not specified [RCV000603587] Chr9:95240754 [GRCh38]
Chr9:98003036 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1329+166_1329+168del deletion Fanconi anemia complementation group C [RCV000668923] Chr9:95111295..95111297 [GRCh38]
Chr9:97873577..97873579 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.346-1G>A single nucleotide variant FANCC-related disorder [RCV003411478]|Fanconi anemia [RCV001042914]|Fanconi anemia complementation group C [RCV000625771]|Hereditary cancer-predisposing syndrome [RCV002334038]|not provided [RCV001195046] Chr9:95172148 [GRCh38]
Chr9:97934430 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1527C>T (p.Ile509=) single nucleotide variant Fanconi anemia [RCV001401112]|Hereditary cancer-predisposing syndrome [RCV004025025]|not specified [RCV000602052] Chr9:95107072 [GRCh38]
Chr9:97869354 [GRCh37]
Chr9:9q22.32		 likely benign
GRCh37/hg19 9q22.32(chr9:97598179-97886491)x1 copy number loss See cases [RCV000512445] Chr9:97598179..97886491 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) single nucleotide variant Fanconi anemia complementation group C [RCV000670114] Chr9:95111610 [GRCh38]
Chr9:97873892 [GRCh37]
Chr9:9q22.32		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr) single nucleotide variant Familial ovarian cancer [RCV001354482]|Fanconi anemia [RCV000630844]|Hereditary cancer-predisposing syndrome [RCV003302983] Chr9:95101816 [GRCh38]
Chr9:97864098 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.511A>G (p.Thr171Ala) single nucleotide variant Fanconi anemia [RCV000630939] Chr9:95171089 [GRCh38]
Chr9:97933371 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) single nucleotide variant Fanconi anemia complementation group C [RCV000672089] Chr9:95111551 [GRCh38]
Chr9:97873833 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) single nucleotide variant Fanconi anemia complementation group C [RCV000673122]|Hereditary cancer-predisposing syndrome [RCV001021633] Chr9:95249289 [GRCh38]
Chr9:98011571 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) single nucleotide variant Fanconi anemia complementation group C [RCV000664675] Chr9:95111585 [GRCh38]
Chr9:97873867 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) duplication FANCC-related disorder [RCV003403514]|Fanconi anemia [RCV000824456]|Fanconi anemia complementation group C [RCV002248850]|Hereditary cancer-predisposing syndrome [RCV004948552]|not provided [RCV000657293] Chr9:95111534..95111535 [GRCh38]
Chr9:97873816..97873817 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.851C>T (p.Ala284Val) single nucleotide variant Fanconi anemia [RCV000814395]|Fanconi anemia complementation group C [RCV001274474]|Hereditary cancer-predisposing syndrome [RCV002406500]|not provided [RCV000658080]|not specified [RCV001816657] Chr9:95126574 [GRCh38]
Chr9:97888856 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1329+169C>T single nucleotide variant Fanconi anemia complementation group C [RCV000669004] Chr9:95111294 [GRCh38]
Chr9:97873576 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-79+1G>A single nucleotide variant Fanconi anemia [RCV002531216]|Fanconi anemia complementation group C [RCV000669102] Chr9:95317525 [GRCh38]
Chr9:98079807 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) duplication Fanconi anemia complementation group C [RCV000667900] Chr9:95101793..95101794 [GRCh38]
Chr9:97864075..97864076 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del) deletion Fanconi anemia complementation group C [RCV000667909] Chr9:95150046..95150051 [GRCh38]
Chr9:97912328..97912333 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) deletion Fanconi anemia complementation group C [RCV000671011] Chr9:95114631..95114632 [GRCh38]
Chr9:97876913..97876914 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) deletion Fanconi anemia [RCV001225609]|Fanconi anemia complementation group C [RCV000668283] Chr9:95101831..95101835 [GRCh38]
Chr9:97864113..97864117 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) duplication Fanconi anemia complementation group C [RCV000666854] Chr9:95125138..95125139 [GRCh38]
Chr9:97887420..97887421 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) single nucleotide variant Fanconi anemia [RCV001381636]|Fanconi anemia complementation group C [RCV000666989]|Hereditary cancer-predisposing syndrome [RCV002388175]|not provided [RCV004723049] Chr9:95107182 [GRCh38]
Chr9:97869464 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.843+1G>C single nucleotide variant Fanconi anemia [RCV001861820]|Fanconi anemia complementation group C [RCV000673380] Chr9:95135345 [GRCh38]
Chr9:97897627 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1073-1G>C single nucleotide variant Fanconi anemia [RCV001868245]|Fanconi anemia complementation group C [RCV000670553]|Hereditary cancer-predisposing syndrome [RCV004619375] Chr9:95114711 [GRCh38]
Chr9:97876993 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.996+1G>A single nucleotide variant Fanconi anemia [RCV002532107]|Fanconi anemia complementation group C [RCV000671064]|Hereditary cancer-predisposing syndrome [RCV003303098] Chr9:95125085 [GRCh38]
Chr9:97887367 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.165+1del deletion Fanconi anemia [RCV002531291]|Fanconi anemia complementation group C [RCV000671594]|Hereditary cancer-predisposing syndrome [RCV004948560] Chr9:95249126 [GRCh38]
Chr9:98011408 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs) microsatellite Fanconi anemia [RCV001868271]|Fanconi anemia complementation group C [RCV000673448] Chr9:95111613..95111614 [GRCh38]
Chr9:97873895..97873896 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1329+134del deletion Fanconi anemia complementation group C [RCV000666090] Chr9:95111329 [GRCh38]
Chr9:97873611 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1072+1G>A single nucleotide variant Fanconi anemia [RCV002531358]|Fanconi anemia complementation group C [RCV000674613] Chr9:95117314 [GRCh38]
Chr9:97879596 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1534-2A>G single nucleotide variant Fanconi anemia complementation group C [RCV000668308] Chr9:95101852 [GRCh38]
Chr9:97864134 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1329+238C>T single nucleotide variant Fanconi anemia complementation group C [RCV000665191]|not provided [RCV003480749] Chr9:95111225 [GRCh38]
Chr9:97873507 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1155-1G>A single nucleotide variant Fanconi anemia complementation group C [RCV000666931]|Hereditary cancer-predisposing syndrome [RCV004026095] Chr9:95111638 [GRCh38]
Chr9:97873920 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1329+246del deletion Fanconi anemia complementation group C [RCV000668549]|not provided [RCV001358537] Chr9:95111217 [GRCh38]
Chr9:97873499 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1329+265T>G single nucleotide variant Fanconi anemia complementation group C [RCV000674090] Chr9:95111198 [GRCh38]
Chr9:97873480 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.560G>A (p.Cys187Tyr) single nucleotide variant Fanconi anemia [RCV000684884]|Hereditary cancer-predisposing syndrome [RCV002343428] Chr9:95150049 [GRCh38]
Chr9:97912331 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1534-1G>T single nucleotide variant Fanconi anemia complementation group C [RCV000672742]|Hereditary cancer-predisposing syndrome [RCV002388182] Chr9:95101851 [GRCh38]
Chr9:97864133 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.5dup (p.Gln3fs) duplication Fanconi anemia [RCV001384636]|Fanconi anemia complementation group C [RCV000674999]|Hereditary cancer-predisposing syndrome [RCV004026139] Chr9:95249286..95249287 [GRCh38]
Chr9:98011568..98011569 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) deletion Fanconi anemia [RCV003635928]|Fanconi anemia complementation group C [RCV000666180] Chr9:95240727 [GRCh38]
Chr9:98003009 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) deletion Fanconi anemia [RCV000700929]|Fanconi anemia complementation group C [RCV003465615]|Hereditary cancer-predisposing syndrome [RCV004026534] Chr9:95107197..95107207 [GRCh38]
Chr9:97869479..97869489 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) duplication Fanconi anemia complementation group C [RCV000667706]|Hereditary cancer-predisposing syndrome [RCV002397351] Chr9:95101709..95101710 [GRCh38]
Chr9:97863991..97863992 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9q22.32(chr9:97698177-98849150)x1 copy number loss not provided [RCV000683154] Chr9:97698177..98849150 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.143T>C (p.Met48Thr) single nucleotide variant Fanconi anemia [RCV000688685]|Fanconi anemia complementation group C [RCV002485623]|Hereditary cancer-predisposing syndrome [RCV001011588] Chr9:95249149 [GRCh38]
Chr9:98011431 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.389_390del (p.Glu130fs) deletion Fanconi anemia [RCV000699203] Chr9:95172103..95172104 [GRCh38]
Chr9:97934385..97934386 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) single nucleotide variant Fanconi anemia [RCV001825407]|Fanconi anemia complementation group C [RCV000709084]|Hereditary cancer [RCV003492140]|Hereditary cancer-predisposing syndrome [RCV001017185] Chr9:95117318 [GRCh38]
Chr9:97879600 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu) single nucleotide variant Fanconi anemia [RCV003117511]|Fanconi anemia complementation group C [RCV000709086]|Hereditary cancer-predisposing syndrome [RCV002369978] Chr9:95126554 [GRCh38]
Chr9:97888836 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.519del (p.Arg173fs) deletion Fanconi anemia complementation group A [RCV000988217]|not provided [RCV004588155] Chr9:95171081 [GRCh38]
Chr9:97933363 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) single nucleotide variant Fanconi anemia [RCV001247684]|Fanconi anemia complementation group C [RCV000709092] Chr9:95172080 [GRCh38]
Chr9:97934362 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser) single nucleotide variant Fanconi anemia complementation group C [RCV000709094]|not provided [RCV004723125] Chr9:95247480 [GRCh38]
Chr9:98009762 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser) single nucleotide variant Fanconi anemia [RCV000688242]|Hereditary cancer-predisposing syndrome [RCV002331340] Chr9:95172056 [GRCh38]
Chr9:97934338 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile) single nucleotide variant Fanconi anemia [RCV000702909]|Hereditary cancer-predisposing syndrome [RCV001027176] Chr9:95249212 [GRCh38]
Chr9:98011494 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_97863983)_(98270649_?)dup duplication Fanconi anemia [RCV000708140] Chr9:95101701..95508367 [GRCh38]
Chr9:97863983..98270649 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe) single nucleotide variant Fanconi anemia [RCV000684927]|Fanconi anemia complementation group C [RCV001788325]|Hereditary cancer-predisposing syndrome [RCV002397358]|not provided [RCV003442017] Chr9:95101712 [GRCh38]
Chr9:97863994 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.160G>A (p.Glu54Lys) single nucleotide variant Fanconi anemia [RCV000706384]|Hereditary cancer-predisposing syndrome [RCV004949874] Chr9:95249132 [GRCh38]
Chr9:98011414 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) single nucleotide variant Fanconi anemia complementation group A [RCV000988194]|Hereditary cancer-predisposing syndrome [RCV003303200] Chr9:95107104 [GRCh38]
Chr9:97869386 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) single nucleotide variant Fanconi anemia [RCV001390077]|Fanconi anemia complementation group C [RCV000709079] Chr9:95107206 [GRCh38]
Chr9:97869488 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.46A>G (p.Met16Val) single nucleotide variant Fanconi anemia [RCV000707263]|Fanconi anemia complementation group C [RCV002493251]|Hereditary cancer-predisposing syndrome [RCV004026748]|not specified [RCV002469272] Chr9:95249246 [GRCh38]
Chr9:98011528 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu) single nucleotide variant Fanconi anemia [RCV000688222] Chr9:95125164 [GRCh38]
Chr9:97887446 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.110A>C (p.His37Pro) single nucleotide variant Fanconi anemia [RCV000707475]|Hereditary cancer-predisposing syndrome [RCV002440556]|not provided [RCV002466574] Chr9:95249182 [GRCh38]
Chr9:98011464 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1098G>C (p.Gln366His) single nucleotide variant Fanconi anemia [RCV000702855] Chr9:95114685 [GRCh38]
Chr9:97876967 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.457-10del deletion Fanconi anemia [RCV000691188] Chr9:95171153 [GRCh38]
Chr9:97933435 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) single nucleotide variant Fanconi anemia [RCV000694021]|Fanconi anemia complementation group C [RCV001274487]|Hereditary cancer-predisposing syndrome [RCV001024462]|not provided [RCV004588123]|not specified [RCV002509515] Chr9:95150037 [GRCh38]
Chr9:97912319 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1298G>A (p.Arg433His) single nucleotide variant Fanconi anemia [RCV000700200]|Hereditary cancer-predisposing syndrome [RCV001010581]|not specified [RCV001816728] Chr9:95111494 [GRCh38]
Chr9:97873776 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.847C>A (p.Gln283Lys) single nucleotide variant Fanconi anemia [RCV000698805] Chr9:95126578 [GRCh38]
Chr9:97888860 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) single nucleotide variant Fanconi anemia [RCV000692215]|Fanconi anemia complementation group C [RCV002060874]|Hereditary cancer-predisposing syndrome [RCV002388236]|not provided [RCV003322809] Chr9:95107135 [GRCh38]
Chr9:97869417 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000136.3(FANCC):c.700C>T (p.Leu234Phe) single nucleotide variant not provided [RCV001584888] Chr9:95135489 [GRCh38]
Chr9:97897771 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.896+81G>A single nucleotide variant not provided [RCV001534353] Chr9:95126448 [GRCh38]
Chr9:97888730 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) single nucleotide variant Fanconi anemia [RCV001615391]|Fanconi anemia complementation group C [RCV003339687]|Hereditary cancer-predisposing syndrome [RCV002368623] Chr9:95249222 [GRCh38]
Chr9:98011504 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.897-1G>A single nucleotide variant Fanconi anemia complementation group C [RCV001004549] Chr9:95125186 [GRCh38]
Chr9:97887468 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.923C>A (p.Ala308Asp) single nucleotide variant not provided [RCV003239147] Chr9:95125159 [GRCh38]
Chr9:97887441 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.12:g.(?_95135336)_(95249379_?)del deletion Fanconi anemia [RCV001032245] Chr9:97897618..98011661 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.345+1G>A single nucleotide variant Fanconi anemia [RCV001066919]|Hereditary cancer-predisposing syndrome [RCV004950239] Chr9:95240648 [GRCh38]
Chr9:98002930 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.188G>T (p.Arg63Ile) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030470] Chr9:95247494 [GRCh38]
Chr9:98009776 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.686+310C>T single nucleotide variant not provided [RCV001552034] Chr9:95149613 [GRCh38]
Chr9:97911895 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1330-141T>C single nucleotide variant not provided [RCV001608856] Chr9:95107410 [GRCh38]
Chr9:97869692 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) single nucleotide variant Fanconi anemia complementation group A [RCV000988228] Chr9:95249275 [GRCh38]
Chr9:98011557 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+98A>G single nucleotide variant Fanconi anemia complementation group A [RCV000988229] Chr9:95317428 [GRCh38]
Chr9:98079710 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+216A>G single nucleotide variant not provided [RCV001665227] Chr9:95317310 [GRCh38]
Chr9:98079592 [GRCh37]
Chr9:9q22.32		 benign
NC_000009.12:g.(?_95149913)_(95172157_?)del deletion Fanconi anemia [RCV001031685] Chr9:97912195..97934439 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.250+196AC[9] microsatellite not provided [RCV001567978] Chr9:95247213..95247218 [GRCh38]
Chr9:98009495..98009500 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*1515C>T single nucleotide variant Fanconi anemia complementation group C [RCV001165697] Chr9:95100192 [GRCh38]
Chr9:97862474 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*8G>A single nucleotide variant not provided [RCV001568819] Chr9:95101699 [GRCh38]
Chr9:97863981 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1311G>A (p.Gln437=) single nucleotide variant Fanconi anemia [RCV001427044] Chr9:95111481 [GRCh38]
Chr9:97873763 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-21C>G single nucleotide variant Fanconi anemia [RCV000900785] Chr9:95249312 [GRCh38]
Chr9:98011594 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.234T>G (p.Pro78=) single nucleotide variant Fanconi anemia [RCV001489291] Chr9:95247448 [GRCh38]
Chr9:98009730 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-69G>A single nucleotide variant Fanconi anemia [RCV001458259] Chr9:95249360 [GRCh38]
Chr9:98011642 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1587C>T (p.Thr529=) single nucleotide variant Fanconi anemia [RCV000883461]|Hereditary cancer-predisposing syndrome [RCV002399980] Chr9:95101797 [GRCh38]
Chr9:97864079 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1002G>A (p.Arg334=) single nucleotide variant Fanconi anemia [RCV000884517]|Hereditary cancer-predisposing syndrome [RCV002390864] Chr9:95117385 [GRCh38]
Chr9:97879667 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1073-8A>G single nucleotide variant Fanconi anemia [RCV001438545] Chr9:95114718 [GRCh38]
Chr9:97877000 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1053G>A (p.Val351=) single nucleotide variant Fanconi anemia [RCV000944436]|Hereditary cancer-predisposing syndrome [RCV002409247] Chr9:95117334 [GRCh38]
Chr9:97879616 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.997-1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019952] Chr9:95117391 [GRCh38]
Chr9:97879673 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp) single nucleotide variant Fanconi anemia [RCV001047637]|Fanconi anemia complementation group C [RCV001276463]|Hereditary cancer-predisposing syndrome [RCV002451190]|not provided [RCV002293500] Chr9:95172146 [GRCh38]
Chr9:97934428 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro) single nucleotide variant Fanconi anemia [RCV001058577]|Fanconi anemia complementation group C [RCV001274486]|Hereditary cancer-predisposing syndrome [RCV002355057] Chr9:95150013 [GRCh38]
Chr9:97912295 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.815T>G (p.Ile272Ser) single nucleotide variant Fanconi anemia [RCV001071320]|Hereditary cancer-predisposing syndrome [RCV002418562] Chr9:95135374 [GRCh38]
Chr9:97897656 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.140_143dup (p.Met48fs) duplication Fanconi anemia [RCV001054325] Chr9:95249148..95249149 [GRCh38]
Chr9:98011430..98011431 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) deletion Fanconi anemia [RCV002535694]|Fanconi anemia complementation group C [RCV000781351]|not provided [RCV003432765] Chr9:95172115..95172116 [GRCh38]
Chr9:97934397..97934398 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1663C>A (p.Arg555=) single nucleotide variant Fanconi anemia [RCV001463487]|Hereditary cancer-predisposing syndrome [RCV001012641]|not provided [RCV000828100] Chr9:95101721 [GRCh38]
Chr9:97864003 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.246A>T (p.Ala82=) single nucleotide variant Fanconi anemia [RCV001499172] Chr9:95247436 [GRCh38]
Chr9:98009718 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.844-10C>G single nucleotide variant not provided [RCV000938534] Chr9:95126591 [GRCh38]
Chr9:97888873 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1512C>T (p.Ile504=) single nucleotide variant Fanconi anemia [RCV001459015]|Hereditary cancer-predisposing syndrome [RCV002390799] Chr9:95107087 [GRCh38]
Chr9:97869369 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.675G>A (p.Glu225=) single nucleotide variant Fanconi anemia [RCV001421512]|Hereditary cancer-predisposing syndrome [RCV002363257]|not provided [RCV003322833] Chr9:95149934 [GRCh38]
Chr9:97912216 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.693G>A (p.Lys231=) single nucleotide variant Fanconi anemia [RCV000870229]|Hereditary cancer-predisposing syndrome [RCV002363260]|not provided [RCV002473157] Chr9:95135496 [GRCh38]
Chr9:97897778 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1534-10C>T single nucleotide variant Fanconi anemia [RCV000946152] Chr9:95101860 [GRCh38]
Chr9:97864142 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.346-7T>G single nucleotide variant Fanconi anemia [RCV001503289] Chr9:95172154 [GRCh38]
Chr9:97934436 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+7G>T single nucleotide variant FANCC-related disorder [RCV003895694]|Fanconi anemia [RCV000936459]|not provided [RCV001724189] Chr9:95317519 [GRCh38]
Chr9:98079801 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1170C>T (p.Pro390=) single nucleotide variant Fanconi anemia [RCV001463929]|Hereditary cancer-predisposing syndrome [RCV001010122] Chr9:95111622 [GRCh38]
Chr9:97873904 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=) single nucleotide variant FANCC-related disorder [RCV003930427]|Fanconi anemia [RCV000875725]|Fanconi anemia complementation group C [RCV001271436]|Hereditary cancer-predisposing syndrome [RCV002399959] Chr9:95101791 [GRCh38]
Chr9:97864073 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.888G>A (p.Glu296=) single nucleotide variant Fanconi anemia [RCV000875806]|Hereditary cancer-predisposing syndrome [RCV001018454] Chr9:95126537 [GRCh38]
Chr9:97888819 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-76T>G single nucleotide variant Fanconi anemia [RCV001474104] Chr9:95249367 [GRCh38]
Chr9:98011649 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1534-9T>C single nucleotide variant Fanconi anemia [RCV001466197]|Fanconi anemia complementation group C [RCV002507534] Chr9:95101859 [GRCh38]
Chr9:97864141 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.765G>A (p.Leu255=) single nucleotide variant Fanconi anemia [RCV001464074]|Hereditary cancer-predisposing syndrome [RCV004030026] Chr9:95135424 [GRCh38]
Chr9:97897706 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.919G>A (p.Gly307Arg) single nucleotide variant Fanconi anemia [RCV005093176]|Hereditary cancer-predisposing syndrome [RCV001018994] Chr9:95125163 [GRCh38]
Chr9:97887445 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) single nucleotide variant Fanconi anemia [RCV001869147]|Fanconi anemia complementation group C [RCV000779587]|Hereditary cancer-predisposing syndrome [RCV002352294]|not specified [RCV002307613] Chr9:95249289 [GRCh38]
Chr9:98011571 [GRCh37]
Chr9:9q22.32		 pathogenic|uncertain significance
NM_000136.3(FANCC):c.975T>G (p.Ala325=) single nucleotide variant Fanconi anemia [RCV001434894]|Hereditary cancer-predisposing syndrome [RCV001019728] Chr9:95125107 [GRCh38]
Chr9:97887389 [GRCh37]
Chr9:9q22.32		 likely benign
NC_000009.12:g.(?_95107056)_(95107279_?)del deletion Fanconi anemia [RCV000819897] Chr9:95107056..95107279 [GRCh38]
Chr9:97869338..97869561 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.54G>A (p.Lys18=) single nucleotide variant not provided [RCV000828438] Chr9:95249238 [GRCh38]
Chr9:98011520 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1353C>T (p.Gly451=) single nucleotide variant Fanconi anemia [RCV001419732]|Hereditary cancer-predisposing syndrome [RCV001011092]|not provided [RCV000842237] Chr9:95107246 [GRCh38]
Chr9:97869528 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys) single nucleotide variant Fanconi anemia complementation group A [RCV000988192] Chr9:95101759 [GRCh38]
Chr9:97864041 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1534-18C>T single nucleotide variant Fanconi anemia [RCV002549704]|Fanconi anemia complementation group A [RCV000988193]|Fanconi anemia complementation group C [RCV002488078]|not provided [RCV001712842] Chr9:95101868 [GRCh38]
Chr9:97864150 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.687-5G>T single nucleotide variant Fanconi anemia complementation group A [RCV000988213] Chr9:95135507 [GRCh38]
Chr9:97897789 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.843+125G>A single nucleotide variant not provided [RCV000836101] Chr9:95135221 [GRCh38]
Chr9:97897503 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser) single nucleotide variant Fanconi anemia [RCV000797751]|Hereditary cancer-predisposing syndrome [RCV002422721] Chr9:95117381 [GRCh38]
Chr9:97879663 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1570G>A (p.Gly524Ser) single nucleotide variant Fanconi anemia [RCV000807428] Chr9:95101814 [GRCh38]
Chr9:97864096 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser) single nucleotide variant Fanconi anemia [RCV000808242]|Fanconi anemia complementation group C [RCV001274613]|Hereditary cancer-predisposing syndrome [RCV002381787] Chr9:95111501 [GRCh38]
Chr9:97873783 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1533+5G>A single nucleotide variant Fanconi anemia [RCV000805349] Chr9:95107061 [GRCh38]
Chr9:97869343 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.346-8T>C single nucleotide variant Fanconi anemia [RCV001403244]|not provided [RCV000829464] Chr9:95172155 [GRCh38]
Chr9:97934437 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.897G>T (p.Arg299Ser) single nucleotide variant Fanconi anemia [RCV000798710]|Hereditary cancer-predisposing syndrome [RCV004027964]|not provided [RCV001731930] Chr9:95125185 [GRCh38]
Chr9:97887467 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1388C>T (p.Ser463Leu) single nucleotide variant Fanconi anemia [RCV000795270]|Hereditary cancer-predisposing syndrome [RCV001011218] Chr9:95107211 [GRCh38]
Chr9:97869493 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser) single nucleotide variant Fanconi anemia [RCV000813273] Chr9:95249161 [GRCh38]
Chr9:98011443 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1641_1658dup (p.Lys552_Glu553insAspArgGluLeuLeuLys) duplication Fanconi anemia [RCV000805863] Chr9:95101725..95101726 [GRCh38]
Chr9:97864007..97864008 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.346-1G>T single nucleotide variant Fanconi anemia [RCV000809608] Chr9:95172148 [GRCh38]
Chr9:97934430 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs) microsatellite Fanconi anemia [RCV000822761]|Fanconi anemia complementation group C [RCV004569776] Chr9:95107168..95107169 [GRCh38]
Chr9:97869450..97869451 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.687-1G>A single nucleotide variant Fanconi anemia [RCV000820250]|Hereditary cancer-predisposing syndrome [RCV002363153] Chr9:95135503 [GRCh38]
Chr9:97897785 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1596A>G (p.Arg532=) single nucleotide variant Fanconi anemia [RCV000813387]|Fanconi anemia complementation group C [RCV001271435] Chr9:95101788 [GRCh38]
Chr9:97864070 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.897-221C>A single nucleotide variant not provided [RCV000839409] Chr9:95125406 [GRCh38]
Chr9:97887688 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.897-234A>G single nucleotide variant not provided [RCV000839450] Chr9:95125419 [GRCh38]
Chr9:97887701 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-29A>G single nucleotide variant Fanconi anemia complementation group A [RCV000988206] Chr9:95111666 [GRCh38]
Chr9:97873948 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+206_-79+219del deletion not provided [RCV000839458] Chr9:95317307..95317320 [GRCh38]
Chr9:98079589..98079602 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.949G>A (p.Val317Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019411] Chr9:95125133 [GRCh38]
Chr9:97887415 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del) deletion Fanconi anemia [RCV000809967]|Fanconi anemia complementation group C [RCV001273984]|Hereditary cancer-predisposing syndrome [RCV001010741] Chr9:95111507..95111509 [GRCh38]
Chr9:97873789..97873791 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*476A>T single nucleotide variant Fanconi anemia complementation group C [RCV001165769] Chr9:95101231 [GRCh38]
Chr9:97863513 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2164G>T single nucleotide variant Fanconi anemia complementation group C [RCV001167810] Chr9:95099543 [GRCh38]
Chr9:97861825 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2524G>A single nucleotide variant Fanconi anemia complementation group C [RCV001167225] Chr9:95099183 [GRCh38]
Chr9:97861465 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*431T>C single nucleotide variant Fanconi anemia complementation group C [RCV001165770] Chr9:95101276 [GRCh38]
Chr9:97863558 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.700C>G (p.Leu234Val) single nucleotide variant Fanconi anemia [RCV001859070]|Fanconi anemia complementation group C [RCV001165845]|Hereditary cancer-predisposing syndrome [RCV002365813] Chr9:95135489 [GRCh38]
Chr9:97897771 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1028C>T single nucleotide variant Fanconi anemia complementation group C [RCV001167882] Chr9:95100679 [GRCh38]
Chr9:97862961 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1152T>C (p.His384=) single nucleotide variant Fanconi anemia [RCV001476386]|Hereditary cancer-predisposing syndrome [RCV001010004] Chr9:95114631 [GRCh38]
Chr9:97876913 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*2308G>A single nucleotide variant Fanconi anemia complementation group C [RCV001167227] Chr9:95099399 [GRCh38]
Chr9:97861681 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg) single nucleotide variant Fanconi anemia [RCV000811316]|Hereditary cancer-predisposing syndrome [RCV002422789]|not provided [RCV001766696] Chr9:95114704 [GRCh38]
Chr9:97876986 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.956C>T (p.Thr319Met) single nucleotide variant Fanconi anemia [RCV000824523]|Fanconi anemia complementation group C [RCV001274467]|Hereditary cancer-predisposing syndrome [RCV002372363]|not provided [RCV001759625] Chr9:95125126 [GRCh38]
Chr9:97887408 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.165+8del deletion Fanconi anemia [RCV000876740] Chr9:95249119 [GRCh38]
Chr9:98011401 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.166-9C>G single nucleotide variant Fanconi anemia [RCV000871173]|Fanconi anemia complementation group A [RCV000988224]|Fanconi anemia complementation group C [RCV002501306]|not provided [RCV001615068] Chr9:95247525 [GRCh38]
Chr9:98009807 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu) single nucleotide variant Fanconi anemia [RCV000808401]|Fanconi anemia complementation group C [RCV001273989]|Hereditary cancer-predisposing syndrome [RCV001010523]|not provided [RCV002298781] Chr9:95111551 [GRCh38]
Chr9:97873833 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.521+5G>A single nucleotide variant Fanconi anemia [RCV000813468] Chr9:95171074 [GRCh38]
Chr9:97933356 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro) single nucleotide variant Fanconi anemia [RCV000803626]|Hereditary cancer-predisposing syndrome [RCV002440697] Chr9:95135351 [GRCh38]
Chr9:97897633 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.558T>G (p.Val186=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004029197]|not provided [RCV000827017] Chr9:95150051 [GRCh38]
Chr9:97912333 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg) single nucleotide variant Fanconi anemia [RCV000813684] Chr9:95101766 [GRCh38]
Chr9:97864048 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.507del (p.Phe169fs) deletion Fanconi anemia [RCV000804363]|Fanconi anemia complementation group C [RCV003467402]|Hereditary cancer-predisposing syndrome [RCV002336630] Chr9:95171093 [GRCh38]
Chr9:97933375 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.-79+92A>G single nucleotide variant not provided [RCV000836084] Chr9:95317434 [GRCh38]
Chr9:98079716 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1257del (p.Thr420fs) deletion Fanconi anemia [RCV000804708]|Fanconi anemia complementation group A [RCV000988203]|Fanconi anemia complementation group C [RCV003467405] Chr9:95111535 [GRCh38]
Chr9:97873817 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.12:g.(?_95114619)_(95114720_?)del deletion Fanconi anemia [RCV001031569] Chr9:97876901..97877002 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.476C>T (p.Ser159Phe) single nucleotide variant Fanconi anemia [RCV001827206]|Hereditary cancer-predisposing syndrome [RCV001023015] Chr9:95171124 [GRCh38]
Chr9:97933406 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2246G>T single nucleotide variant Fanconi anemia complementation group C [RCV001167809] Chr9:95099461 [GRCh38]
Chr9:97861743 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1096T>C single nucleotide variant Fanconi anemia complementation group C [RCV001167880] Chr9:95100611 [GRCh38]
Chr9:97862893 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-87G>A single nucleotide variant Fanconi anemia complementation group A [RCV000988230]|not provided [RCV001595059] Chr9:95317534 [GRCh38]
Chr9:98079816 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.-262_-79+3686del deletion Fanconi anemia complementation group C [RCV001195033] Chr9:95313840..95317709 [GRCh38]
Chr9:98076122..98079991 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del deletion Fanconi anemia complementation group C [RCV001195042] Chr9:98002930..98003026 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.996G>A (p.Gln332=) single nucleotide variant Fanconi anemia complementation group C [RCV001195052] Chr9:95125086 [GRCh38]
Chr9:97887368 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.*1468C>T single nucleotide variant Fanconi anemia complementation group C [RCV001167285] Chr9:95100239 [GRCh38]
Chr9:97862521 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*587C>T single nucleotide variant Fanconi anemia complementation group C [RCV001169752] Chr9:95101120 [GRCh38]
Chr9:97863402 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*577G>A single nucleotide variant Fanconi anemia complementation group C [RCV001169753] Chr9:95101130 [GRCh38]
Chr9:97863412 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1649A>G single nucleotide variant Fanconi anemia complementation group C [RCV001165696] Chr9:95100058 [GRCh38]
Chr9:97862340 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.965T>C (p.Phe322Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019610] Chr9:95125117 [GRCh38]
Chr9:97887399 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1059G>T (p.Leu353=) single nucleotide variant Fanconi anemia [RCV002068809]|Fanconi anemia complementation group C [RCV005049728]|Hereditary cancer-predisposing syndrome [RCV001009765] Chr9:95117328 [GRCh38]
Chr9:97879610 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.42T>C (p.Phe14=) single nucleotide variant Fanconi anemia [RCV003523056]|Hereditary cancer-predisposing syndrome [RCV001022246] Chr9:95249250 [GRCh38]
Chr9:98011532 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.118C>G (p.Gln40Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010233] Chr9:95249174 [GRCh38]
Chr9:98011456 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.119A>C (p.Gln40Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010256] Chr9:95249173 [GRCh38]
Chr9:98011455 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_000136.3(FANCC):c.1329+306C>T single nucleotide variant Fanconi anemia complementation group A [RCV000988199] Chr9:95111157 [GRCh38]
Chr9:97873439 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) single nucleotide variant Fanconi anemia [RCV001210421]|Fanconi anemia complementation group C [RCV001195043]|Hereditary cancer-predisposing syndrome [RCV001020169] Chr9:95240656 [GRCh38]
Chr9:98002938 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.439C>A (p.Pro147Thr) single nucleotide variant Fanconi anemia complementation group C [RCV001276459]|Hereditary cancer-predisposing syndrome [RCV001022419]|not provided [RCV004589985] Chr9:95172054 [GRCh38]
Chr9:97934336 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.12:g.(?_95240639)_(95240753_?)del deletion Fanconi anemia [RCV001031041] Chr9:98002921..98003035 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg) single nucleotide variant Fanconi anemia [RCV001246013]|Fanconi anemia complementation group C [RCV002484373]|Hereditary cancer-predisposing syndrome [RCV002379941]|not provided [RCV001586088] Chr9:95111482 [GRCh38]
Chr9:97873764 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.349_360del (p.Val117_His120del) deletion Fanconi anemia [RCV001246080]|Hereditary cancer-predisposing syndrome [RCV003353262]|not provided [RCV001555821] Chr9:95172133..95172144 [GRCh38]
Chr9:97934415..97934426 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.388delinsAAAA (p.Glu130delinsLysLys) indel not provided [RCV001195034] Chr9:95172105 [GRCh38]
Chr9:97934387 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.996+979_996+983del deletion X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV001195053] Chr9:95124103..95124107 [GRCh38]
Chr9:97886385..97886389 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.392T>C (p.Val131Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021462] Chr9:95172101 [GRCh38]
Chr9:97934383 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1321_1322del (p.Gln441fs) microsatellite Fanconi anemia [RCV001201710] Chr9:95111470..95111471 [GRCh38]
Chr9:97873752..97873753 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu) single nucleotide variant Fanconi anemia [RCV001240128]|Hereditary cancer-predisposing syndrome [RCV002402760] Chr9:95101811 [GRCh38]
Chr9:97864093 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.146A>G (p.Tyr49Cys) single nucleotide variant Fanconi anemia [RCV001242908]|Hereditary cancer-predisposing syndrome [RCV002393630]|not provided [RCV004727033] Chr9:95249146 [GRCh38]
Chr9:98011428 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del) microsatellite Fanconi anemia [RCV001231801]|Hereditary cancer-predisposing syndrome [RCV002393574]|not provided [RCV001773525] Chr9:95107123..95107125 [GRCh38]
Chr9:97869405..97869407 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.778A>G (p.Lys260Glu) single nucleotide variant Fanconi anemia [RCV001233506]|Hereditary cancer-predisposing syndrome [RCV003166433] Chr9:95135411 [GRCh38]
Chr9:97897693 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg) single nucleotide variant Fanconi anemia [RCV001206075]|Hereditary cancer-predisposing syndrome [RCV002402596]|not provided [RCV001732071]|not specified [RCV001819893] Chr9:95101729 [GRCh38]
Chr9:97864011 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1166G>A (p.Gly389Asp) single nucleotide variant Fanconi anemia [RCV001234521]|Hereditary cancer-predisposing syndrome [RCV003353237] Chr9:95111626 [GRCh38]
Chr9:97873908 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu) single nucleotide variant Fanconi anemia [RCV001237810]|Fanconi anemia complementation group C [RCV001278783]|Hereditary cancer-predisposing syndrome [RCV002393604]|Malignant tumor of breast [RCV001356399] Chr9:95111548 [GRCh38]
Chr9:97873830 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.996+1_996+2insGA insertion Fanconi anemia [RCV001221372]|Fanconi anemia complementation group C [RCV003469381]|Hereditary cancer-predisposing syndrome [RCV002379836] Chr9:95125084..95125085 [GRCh38]
Chr9:97887366..97887367 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.996+6T>C single nucleotide variant Fanconi anemia [RCV001241546]|Fanconi anemia complementation group C [RCV002484326]|not provided [RCV002293516] Chr9:95125080 [GRCh38]
Chr9:97887362 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1640C>T (p.Ala547Val) single nucleotide variant Fanconi anemia [RCV001221552]|Hereditary cancer-predisposing syndrome [RCV002402678]|not provided [RCV005005091] Chr9:95101744 [GRCh38]
Chr9:97864026 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) single nucleotide variant Fanconi anemia [RCV001064625]|Fanconi anemia complementation group A [RCV000988208]|Hereditary breast ovarian cancer syndrome [RCV001030699]|Hereditary cancer-predisposing syndrome [RCV003160115] Chr9:95117322 [GRCh38]
Chr9:97879604 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.*213T>G single nucleotide variant Fanconi anemia complementation group C [RCV001167355] Chr9:95101494 [GRCh38]
Chr9:97863776 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*96A>G single nucleotide variant Fanconi anemia complementation group C [RCV001167356]|not provided [RCV001565827] Chr9:95101611 [GRCh38]
Chr9:97863893 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.*1197A>G single nucleotide variant Fanconi anemia complementation group C [RCV001167879] Chr9:95100510 [GRCh38]
Chr9:97862792 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1059A>T single nucleotide variant Fanconi anemia complementation group C [RCV001167881] Chr9:95100648 [GRCh38]
Chr9:97862930 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.173A>G (p.Asn58Ser) single nucleotide variant Fanconi anemia [RCV001212713] Chr9:95247509 [GRCh38]
Chr9:98009791 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1662C>T single nucleotide variant Fanconi anemia complementation group C [RCV001165695]|not provided [RCV004712980] Chr9:95100045 [GRCh38]
Chr9:97862327 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp) single nucleotide variant Fanconi anemia [RCV001051936]|Fanconi anemia complementation group C [RCV001293973]|Hereditary cancer-predisposing syndrome [RCV001021415]|not provided [RCV004789351] Chr9:95172103 [GRCh38]
Chr9:97934385 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.628G>T (p.Glu210Ter) single nucleotide variant not provided [RCV004777186] Chr9:95149981 [GRCh38]
Chr9:97912263 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1428C>A (p.Asp476Glu) single nucleotide variant not provided [RCV003127083] Chr9:95107171 [GRCh38]
Chr9:97869453 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.839C>A (p.Ser280Ter) single nucleotide variant Fanconi anemia [RCV002032598]|not provided [RCV001553466] Chr9:95135350 [GRCh38]
Chr9:97897632 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1302T>C (p.Asp434=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386448]|not provided [RCV001549868] Chr9:95111490 [GRCh38]
Chr9:97873772 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.686+157_686+159del microsatellite not provided [RCV001560882] Chr9:95149764..95149766 [GRCh38]
Chr9:97912046..97912048 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+216_-79+217insGGCGGG insertion not provided [RCV001597779] Chr9:95317309..95317310 [GRCh38]
Chr9:98079591..98079592 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.686+135T>G single nucleotide variant not provided [RCV001562235] Chr9:95149788 [GRCh38]
Chr9:97912070 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-13G>T single nucleotide variant Fanconi anemia [RCV002538524]|not provided [RCV001656004] Chr9:95111650 [GRCh38]
Chr9:97873932 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.407A>C (p.Gln136Pro) single nucleotide variant Fanconi anemia [RCV002573357]|Hereditary cancer-predisposing syndrome [RCV002324158]|not provided [RCV001593904] Chr9:95172086 [GRCh38]
Chr9:97934368 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1567A>G (p.Ile523Val) single nucleotide variant Fanconi anemia [RCV001827499]|Hereditary cancer-predisposing syndrome [RCV002405252]|not provided [RCV001570304] Chr9:95101817 [GRCh38]
Chr9:97864099 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.567A>C (p.Pro189=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343788]|not provided [RCV001640020] Chr9:95150042 [GRCh38]
Chr9:97912324 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.521+109A>G single nucleotide variant Fanconi anemia complementation group C [RCV001532806]|not provided [RCV001615248] Chr9:95170970 [GRCh38]
Chr9:97933252 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.669A>G (p.Val223=) single nucleotide variant Fanconi anemia [RCV001428271]|Hereditary cancer-predisposing syndrome [RCV004029404] Chr9:95149940 [GRCh38]
Chr9:97912222 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.90C>A (p.Thr30=) single nucleotide variant Fanconi anemia [RCV001426152]|Hereditary cancer-predisposing syndrome [RCV001018850] Chr9:95249202 [GRCh38]
Chr9:98011484 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1008A>G (p.Ala336=) single nucleotide variant Fanconi anemia [RCV001414955]|Hereditary cancer-predisposing syndrome [RCV001009677] Chr9:95117379 [GRCh38]
Chr9:97879661 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.996+9T>A single nucleotide variant Fanconi anemia [RCV001492230]|Fanconi anemia complementation group C [RCV001274617] Chr9:95125077 [GRCh38]
Chr9:97887359 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.250+89dup duplication not provided [RCV001582122] Chr9:95247331..95247332 [GRCh38]
Chr9:98009613..98009614 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr) single nucleotide variant Fanconi anemia [RCV001226683]|Fanconi anemia complementation group C [RCV003483798]|Hereditary cancer-predisposing syndrome [RCV004951365] Chr9:95249216 [GRCh38]
Chr9:98011498 [GRCh37]
Chr9:9q22.32		 uncertain significance|not provided
NM_000136.3(FANCC):c.*1727T>A single nucleotide variant Fanconi anemia complementation group C [RCV001165693]|not provided [RCV004712979] Chr9:95099980 [GRCh38]
Chr9:97862262 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.*483A>G single nucleotide variant Fanconi anemia complementation group C [RCV001165768] Chr9:95101224 [GRCh38]
Chr9:97863506 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.340A>T (p.Ile114Leu) single nucleotide variant Fanconi anemia [RCV001216856]|Hereditary cancer-predisposing syndrome [RCV002451484] Chr9:95240654 [GRCh38]
Chr9:98002936 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.659T>G (p.Phe220Cys) single nucleotide variant Fanconi anemia [RCV001227674]|Hereditary cancer-predisposing syndrome [RCV002366021] Chr9:95149950 [GRCh38]
Chr9:97912232 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.883dup (p.Asp295fs) duplication Fanconi anemia [RCV001208956]|Fanconi anemia complementation group C [RCV003462699] Chr9:95126541..95126542 [GRCh38]
Chr9:97888823..97888824 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val) single nucleotide variant Fanconi anemia [RCV001223977]|Hereditary cancer-predisposing syndrome [RCV002402696]|not provided [RCV001358076] Chr9:95101748 [GRCh38]
Chr9:97864030 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.12:g.(?_95135336)_(95135512_?)del deletion Fanconi anemia [RCV001033038] Chr9:97897618..97897794 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.532G>C (p.Glu178Gln) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030469] Chr9:95150077 [GRCh38]
Chr9:97912359 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala) single nucleotide variant Fanconi anemia [RCV001220880]|Hereditary cancer-predisposing syndrome [RCV002402671] Chr9:95101822 [GRCh38]
Chr9:97864104 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2402G>C single nucleotide variant Fanconi anemia complementation group C [RCV001167226] Chr9:95099305 [GRCh38]
Chr9:97861587 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1297C>A (p.Arg433Ser) single nucleotide variant Fanconi anemia [RCV001211983]|not provided [RCV004774307] Chr9:95111495 [GRCh38]
Chr9:97873777 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.571A>C (p.Ile191Leu) single nucleotide variant Fanconi anemia [RCV001244148]|Hereditary cancer-predisposing syndrome [RCV002348829]|not provided [RCV001760276] Chr9:95150038 [GRCh38]
Chr9:97912320 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.165+11G>C single nucleotide variant Fanconi anemia complementation group A [RCV000988225] Chr9:95249116 [GRCh38]
Chr9:98011398 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.351A>G (p.Val117=) single nucleotide variant Fanconi anemia [RCV001467605]|Hereditary cancer-predisposing syndrome [RCV002454122] Chr9:95172142 [GRCh38]
Chr9:97934424 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.346-323A>G single nucleotide variant not provided [RCV001575010] Chr9:95172470 [GRCh38]
Chr9:97934752 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr) single nucleotide variant Fanconi anemia [RCV002539805]|Fanconi anemia complementation group C [RCV002488492]|Hereditary cancer-predisposing syndrome [RCV002343807]|not provided [RCV001732365] Chr9:95171109 [GRCh38]
Chr9:97933391 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup duplication Fanconi anemia complementation group C [RCV002469946] Chr9:97876910..97934430 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) indel Fanconi anemia complementation group C [RCV002479204]|Hereditary cancer-predisposing syndrome [RCV001010278] Chr9:95249278..95249280 [GRCh38]
Chr9:98011560..98011562 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1260G>C (p.Thr420=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010598] Chr9:95111532 [GRCh38]
Chr9:97873814 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.472G>A (p.Ala158Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022963] Chr9:95171128 [GRCh38]
Chr9:97933410 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.687-288C>T single nucleotide variant not provided [RCV001674579] Chr9:95135790 [GRCh38]
Chr9:97898072 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.1329+554A>G single nucleotide variant not provided [RCV001538632] Chr9:95110909 [GRCh38]
Chr9:97873191 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.686+169G>A single nucleotide variant not provided [RCV001586851] Chr9:95149754 [GRCh38]
Chr9:97912036 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1329+406C>T single nucleotide variant not provided [RCV001715731] Chr9:95111057 [GRCh38]
Chr9:97873339 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.972A>G (p.Glu324=) single nucleotide variant Fanconi anemia [RCV002068981]|Hereditary cancer-predisposing syndrome [RCV001019682]|not provided [RCV003478639] Chr9:95125110 [GRCh38]
Chr9:97887392 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.111C>T (p.His37=) single nucleotide variant Fanconi anemia [RCV001413420]|Hereditary cancer-predisposing syndrome [RCV001009914] Chr9:95249181 [GRCh38]
Chr9:98011463 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.496C>T (p.Leu166Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023342] Chr9:95171104 [GRCh38]
Chr9:97933386 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1151A>G (p.His384Arg) single nucleotide variant Fanconi anemia [RCV001860622]|Fanconi anemia complementation group C [RCV001273992]|Hereditary cancer-predisposing syndrome [RCV001009996]|not provided [RCV001732012] Chr9:95114632 [GRCh38]
Chr9:97876914 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1274T>C (p.Leu425Pro) single nucleotide variant Fanconi anemia complementation group C [RCV001274614]|Hereditary cancer-predisposing syndrome [RCV001010693] Chr9:95111518 [GRCh38]
Chr9:97873800 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter) single nucleotide variant Fanconi anemia [RCV001035894] Chr9:95172042 [GRCh38]
Chr9:97934324 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1085G>T (p.Gly362Val) single nucleotide variant Fanconi anemia [RCV001339249]|Hereditary breast ovarian cancer syndrome [RCV001030698]|Hereditary cancer-predisposing syndrome [RCV002427474] Chr9:95114698 [GRCh38]
Chr9:97876980 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.467del (p.Ser156fs) deletion Fanconi anemia complementation group C [RCV001195035] Chr9:95171133 [GRCh38]
Chr9:97933415 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe) single nucleotide variant Fanconi anemia [RCV001863080]|Fanconi anemia complementation group C [RCV002480644]|Hereditary cancer-predisposing syndrome [RCV002348642]|not provided [RCV001195036]|not specified [RCV003235490] Chr9:95150041 [GRCh38]
Chr9:97912323 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.12:g.(95240744_95247431)_(95317709_?)del deletion Fanconi anemia complementation group C [RCV001195038] Chr9:98009713..98079991 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT indel Fanconi anemia complementation group C [RCV001195040] Chr9:95244349..95248136 [GRCh38]
Chr9:98006631..98010418 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1155-1G>C single nucleotide variant Fanconi anemia [RCV001859174]|Fanconi anemia complementation group C [RCV001195056]|Hereditary cancer-predisposing syndrome [RCV004619545]|not provided [RCV003238842] Chr9:95111638 [GRCh38]
Chr9:97873920 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) single nucleotide variant Fanconi anemia complementation group C [RCV001195057] Chr9:95111584 [GRCh38]
Chr9:97873866 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.565C>A (p.Pro189Thr) single nucleotide variant Fanconi anemia [RCV001862286]|Fanconi anemia complementation group C [RCV001276455]|Hereditary cancer-predisposing syndrome [RCV001024376] Chr9:95150044 [GRCh38]
Chr9:97912326 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1351G>A (p.Gly451Ser) single nucleotide variant Fanconi anemia [RCV001218028]|Fanconi anemia complementation group C [RCV005047203]|Hereditary cancer-predisposing syndrome [RCV001011080] Chr9:95107248 [GRCh38]
Chr9:97869530 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.133C>T (p.Leu45=) single nucleotide variant Fanconi anemia [RCV001410043]|Hereditary cancer-predisposing syndrome [RCV001011120]|not provided [RCV003478609] Chr9:95249159 [GRCh38]
Chr9:98011441 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.61G>A (p.Val21Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025003] Chr9:95249231 [GRCh38]
Chr9:98011513 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.291A>G (p.Leu97=) single nucleotide variant Fanconi anemia [RCV001455250]|Hereditary cancer-predisposing syndrome [RCV001017503] Chr9:95240703 [GRCh38]
Chr9:98002985 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.830A>T (p.Lys277Ile) single nucleotide variant Fanconi anemia [RCV001832342]|Hereditary cancer-predisposing syndrome [RCV001017532] Chr9:95135359 [GRCh38]
Chr9:97897641 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.621T>C (p.His207=) single nucleotide variant Fanconi anemia [RCV002551913]|Hereditary cancer-predisposing syndrome [RCV001025024] Chr9:95149988 [GRCh38]
Chr9:97912270 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.836C>A (p.Ser279Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017637] Chr9:95135353 [GRCh38]
Chr9:97897635 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.847C>G (p.Gln283Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017878] Chr9:95126578 [GRCh38]
Chr9:97888860 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.12:g.(?_95101707)_(95317709_?)del deletion Fanconi anemia [RCV004581826] Chr9:97863989..98079991 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.867C>T (p.Ala289=) single nucleotide variant Fanconi anemia [RCV001481891]|Hereditary cancer-predisposing syndrome [RCV001018173] Chr9:95126558 [GRCh38]
Chr9:97888840 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.677C>A (p.Ala226Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025633] Chr9:95149932 [GRCh38]
Chr9:97912214 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.686+1G>C single nucleotide variant Fanconi anemia [RCV003769612]|Fanconi anemia complementation group C [RCV003461410]|Hereditary cancer-predisposing syndrome [RCV001025741] Chr9:95149922 [GRCh38]
Chr9:97912204 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.897G>A (p.Arg299=) single nucleotide variant Fanconi anemia [RCV001827195]|Hereditary cancer-predisposing syndrome [RCV001018585] Chr9:95125185 [GRCh38]
Chr9:97887467 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.315T>C (p.Ser105=) single nucleotide variant Fanconi anemia [RCV003635937]|Hereditary cancer-predisposing syndrome [RCV001018883] Chr9:95240679 [GRCh38]
Chr9:98002961 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*1976C>T single nucleotide variant Fanconi anemia complementation group C [RCV001169681] Chr9:95099731 [GRCh38]
Chr9:97862013 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*660C>T single nucleotide variant Fanconi anemia complementation group C [RCV001169751] Chr9:95101047 [GRCh38]
Chr9:97863329 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.997-216_997-215insATTTATT insertion not provided [RCV001671261] Chr9:95117605..95117606 [GRCh38]
Chr9:97879887..97879888 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.250+220G>A single nucleotide variant not provided [RCV001195041] Chr9:95247212 [GRCh38]
Chr9:98009494 [GRCh37]
Chr9:9q22.32		 benign|uncertain significance
NM_000136.3(FANCC):c.996+1752A>G single nucleotide variant X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV001195055]|not provided [RCV004712990] Chr9:95123334 [GRCh38]
Chr9:97885616 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.1550dup (p.Ile518fs) duplication Fanconi anemia complementation group C [RCV001195059] Chr9:95101833..95101834 [GRCh38]
Chr9:97864115..97864116 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter) insertion Fanconi anemia complementation group C [RCV001195060] Chr9:95101785..95101786 [GRCh38]
Chr9:97864067..97864068 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.250+196AC[13] microsatellite not provided [RCV001714798] Chr9:95247212..95247213 [GRCh38]
Chr9:98009494..98009495 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.686+197C>T single nucleotide variant not provided [RCV001587784] Chr9:95149726 [GRCh38]
Chr9:97912008 [GRCh37]
Chr9:9q22.32		 likely benign
NC_000009.12:g.(?_95171069)_(95172157_?)dup duplication Fanconi anemia [RCV001033246] Chr9:97933351..97934439 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1329+310C>T single nucleotide variant not provided [RCV001648934] Chr9:95111153 [GRCh38]
Chr9:97873435 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.1269G>T (p.Leu423=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010671] Chr9:95111523 [GRCh38]
Chr9:97873805 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-78-262T>C single nucleotide variant not provided [RCV001679059] Chr9:95249631 [GRCh38]
Chr9:98011913 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.1300G>T (p.Asp434Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010860] Chr9:95111492 [GRCh38]
Chr9:97873774 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.357_358del (p.His120fs) microsatellite Fanconi anemia complementation group C [RCV001004336] Chr9:95172135..95172136 [GRCh38]
Chr9:97934417..97934418 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) single nucleotide variant Fanconi anemia [RCV001216645]|Fanconi anemia complementation group C [RCV001004550]|Hereditary cancer-predisposing syndrome [RCV002372728] Chr9:95149936 [GRCh38]
Chr9:97912218 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) microsatellite Fanconi anemia [RCV003769405]|Fanconi anemia complementation group C [RCV001004551]|Hereditary cancer-predisposing syndrome [RCV002454254] Chr9:95172130..95172131 [GRCh38]
Chr9:97934412..97934413 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) single nucleotide variant Fanconi anemia [RCV001045963]|Fanconi anemia complementation group C [RCV003462534]|Hereditary cancer-predisposing syndrome [RCV002379526] Chr9:95125124 [GRCh38]
Chr9:97887406 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.250+196AC[14] microsatellite not provided [RCV001714452] Chr9:95247212..95247213 [GRCh38]
Chr9:98009494..98009495 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.188G>C (p.Arg63Thr) single nucleotide variant Fanconi anemia [RCV001320346]|Hereditary cancer-predisposing syndrome [RCV001013465] Chr9:95247494 [GRCh38]
Chr9:98009776 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln) single nucleotide variant Fanconi anemia [RCV001070979]|Fanconi anemia complementation group C [RCV002489711]|Hereditary cancer-predisposing syndrome [RCV002418557]|not provided [RCV001759849] Chr9:95247473 [GRCh38]
Chr9:98009755 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1533G>C (p.Leu511=) single nucleotide variant Fanconi anemia [RCV001233071] Chr9:95107066 [GRCh38]
Chr9:97869348 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.103T>C (p.Cys35Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009771] Chr9:95249189 [GRCh38]
Chr9:98011471 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.323C>G (p.Ser108Ter) single nucleotide variant Fanconi anemia [RCV001206519] Chr9:95240671 [GRCh38]
Chr9:98002953 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.*1901C>T single nucleotide variant Fanconi anemia complementation group C [RCV001169682] Chr9:95099806 [GRCh38]
Chr9:97862088 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*1379C>G single nucleotide variant Fanconi anemia complementation group C [RCV001167286] Chr9:95100328 [GRCh38]
Chr9:97862610 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*250G>A single nucleotide variant Fanconi anemia complementation group C [RCV001167354] Chr9:95101457 [GRCh38]
Chr9:97863739 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*2164G>A single nucleotide variant Fanconi anemia complementation group C [RCV001167811] Chr9:95099543 [GRCh38]
Chr9:97861825 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.104G>A (p.Cys35Tyr) single nucleotide variant Fanconi anemia [RCV001042157] Chr9:95249188 [GRCh38]
Chr9:98011470 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1124T>G (p.Leu375Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009933] Chr9:95114659 [GRCh38]
Chr9:97876941 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*984G>A single nucleotide variant Fanconi anemia complementation group C [RCV001167883] Chr9:95100723 [GRCh38]
Chr9:97863005 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1534-8G>A single nucleotide variant Fanconi anemia complementation group C [RCV001167955] Chr9:95101858 [GRCh38]
Chr9:97864140 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1194T>G (p.Ile398Met) single nucleotide variant Fanconi anemia [RCV001061237]|Hereditary cancer-predisposing syndrome [RCV002339300] Chr9:95111598 [GRCh38]
Chr9:97873880 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.522-1G>C single nucleotide variant Fanconi anemia [RCV001068005]|Fanconi anemia complementation group C [RCV002479219]|Hereditary cancer-predisposing syndrome [RCV001023758]|not provided [RCV003311932] Chr9:95150088 [GRCh38]
Chr9:97912370 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.220del (p.Ala74fs) deletion Fanconi anemia [RCV003523055]|Fanconi anemia complementation group C [RCV001004337] Chr9:95247462 [GRCh38]
Chr9:98009744 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1282_1283delinsGC (p.Phe428Ala) indel Hereditary cancer-predisposing syndrome [RCV001010738] Chr9:95111509..95111510 [GRCh38]
Chr9:97873791..97873792 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1513G>T (p.Ala505Ser) single nucleotide variant Fanconi anemia [RCV001220141] Chr9:95107086 [GRCh38]
Chr9:97869368 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.662del (p.Glu221fs) deletion Fanconi anemia complementation group C [RCV001195047] Chr9:95149947 [GRCh38]
Chr9:97912229 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.686+30C>T single nucleotide variant not provided [RCV001195048] Chr9:95149893 [GRCh38]
Chr9:97912175 [GRCh37]
Chr9:9q22.32		 benign|uncertain significance
NM_000136.3(FANCC):c.686+33C>T single nucleotide variant not provided [RCV001195049] Chr9:95149890 [GRCh38]
Chr9:97912172 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.996+1056C>A single nucleotide variant X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV001195054] Chr9:95124030 [GRCh38]
Chr9:97886312 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1494T>G (p.Ala498=) single nucleotide variant Fanconi anemia complementation group C [RCV001195058] Chr9:95107105 [GRCh38]
Chr9:97869387 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.526G>C (p.Ala176Pro) single nucleotide variant Fanconi anemia [RCV001237311]|Hereditary cancer-predisposing syndrome [RCV002348802]|not provided [RCV003320815]|not specified [RCV003151293] Chr9:95150083 [GRCh38]
Chr9:97912365 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter) single nucleotide variant Fanconi anemia [RCV001037048] Chr9:95126578 [GRCh38]
Chr9:97888860 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1348C>T (p.Leu450=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010998] Chr9:95107251 [GRCh38]
Chr9:97869533 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1358T>A (p.Leu453His) single nucleotide variant Fanconi anemia [RCV001305626]|Fanconi anemia complementation group C [RCV002497336]|Hereditary cancer-predisposing syndrome [RCV001011156] Chr9:95107241 [GRCh38]
Chr9:97869523 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1427A>G (p.Asp476Gly) single nucleotide variant Fanconi anemia [RCV001827177]|Hereditary cancer-predisposing syndrome [RCV001011488] Chr9:95107172 [GRCh38]
Chr9:97869454 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.432T>G (p.Asp144Glu) single nucleotide variant Fanconi anemia [RCV001058771] Chr9:95172061 [GRCh38]
Chr9:97934343 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.624A>G (p.Gly208=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025040] Chr9:95149985 [GRCh38]
Chr9:97912267 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1545T>C (p.Thr515=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012046] Chr9:95101839 [GRCh38]
Chr9:97864121 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1540C>T (p.His514Tyr) single nucleotide variant Fanconi anemia [RCV001832334]|Hereditary cancer-predisposing syndrome [RCV001012108] Chr9:95101844 [GRCh38]
Chr9:97864126 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1560C>G (p.His520Gln) single nucleotide variant Fanconi anemia [RCV001827178]|Hereditary cancer-predisposing syndrome [RCV001012182] Chr9:95101824 [GRCh38]
Chr9:97864106 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1585A>T (p.Thr529Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012292] Chr9:95101799 [GRCh38]
Chr9:97864081 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.673G>C (p.Glu225Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025600] Chr9:95149936 [GRCh38]
Chr9:97912218 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.677C>T (p.Ala226Val) single nucleotide variant Fanconi anemia complementation group C [RCV001274483]|Hereditary cancer-predisposing syndrome [RCV001025636] Chr9:95149932 [GRCh38]
Chr9:97912214 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1629A>G (p.Ser543=) single nucleotide variant Fanconi anemia [RCV002549371]|Hereditary cancer-predisposing syndrome [RCV001012486] Chr9:95101755 [GRCh38]
Chr9:97864037 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.485G>C (p.Arg162Thr) single nucleotide variant Fanconi anemia [RCV001211164] Chr9:95171115 [GRCh38]
Chr9:97933397 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter) single nucleotide variant Fanconi anemia complementation group C [RCV003461417]|Hereditary cancer-predisposing syndrome [RCV001026242] Chr9:95135460 [GRCh38]
Chr9:97897742 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile) single nucleotide variant Fanconi anemia [RCV001213662]|Fanconi anemia complementation group C [RCV002489519]|Hereditary cancer-predisposing syndrome [RCV001013091]|not provided [RCV001766830] Chr9:95247506 [GRCh38]
Chr9:98009788 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.735G>T (p.Arg245=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026322] Chr9:95135454 [GRCh38]
Chr9:97897736 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) deletion Fanconi anemia complementation group C [RCV001195039] Chr9:95249283..95249284 [GRCh38]
Chr9:98011565..98011566 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.346-1930T>C single nucleotide variant Fanconi anemia complementation group C [RCV005052829]|not provided [RCV001195044] Chr9:95174077 [GRCh38]
Chr9:97936359 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.346-47T>C single nucleotide variant not provided [RCV001195045] Chr9:95172194 [GRCh38]
Chr9:97934476 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-12G>A single nucleotide variant Fanconi anemia [RCV001247081]|Malignant tumor of breast [RCV001358484] Chr9:95249303 [GRCh38]
Chr9:98011585 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter) single nucleotide variant Fanconi anemia [RCV001054113] Chr9:95172140 [GRCh38]
Chr9:97934422 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.812G>T (p.Arg271Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027206] Chr9:95135377 [GRCh38]
Chr9:97897659 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.82T>C (p.Leu28=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027385] Chr9:95249210 [GRCh38]
Chr9:98011492 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.351A>T (p.Val117=) single nucleotide variant Fanconi anemia [RCV001421193]|Hereditary cancer-predisposing syndrome [RCV001020503] Chr9:95172142 [GRCh38]
Chr9:97934424 [GRCh37]
Chr9:9q22.32		 likely benign
NC_000009.12:g.95314147_95322646del deletion Fanconi anemia complementation group C [RCV001200940] Chr9:95314147..95322646 [GRCh38]
Chr9:98076429..98084928 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.896+5A>T single nucleotide variant Fanconi anemia [RCV001036735] Chr9:95126524 [GRCh38]
Chr9:97888806 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1440dup (p.Ala481fs) duplication Fanconi anemia [RCV001230669] Chr9:95107158..95107159 [GRCh38]
Chr9:97869440..97869441 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.534G>C (p.Glu178Asp) single nucleotide variant Fanconi anemia [RCV001345569]|Hereditary cancer-predisposing syndrome [RCV001023964] Chr9:95150075 [GRCh38]
Chr9:97912357 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1264C>T (p.Leu422=) single nucleotide variant Fanconi anemia [RCV001428190]|Hereditary cancer-predisposing syndrome [RCV001010646]|not provided [RCV001578051] Chr9:95111528 [GRCh38]
Chr9:97873810 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1260G>A (p.Thr420=) single nucleotide variant Fanconi anemia [RCV001051374]|Hereditary cancer-predisposing syndrome [RCV002409431]|not provided [RCV001563432] Chr9:95111532 [GRCh38]
Chr9:97873814 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.913A>G (p.Thr305Ala) single nucleotide variant Fanconi anemia [RCV001204339]|Hereditary cancer-predisposing syndrome [RCV004033612] Chr9:95125169 [GRCh38]
Chr9:97887451 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1013_1015del (p.Lys338del) deletion Hereditary cancer-predisposing syndrome [RCV001016953] Chr9:95117372..95117374 [GRCh38]
Chr9:97879654..97879656 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1011C>G (p.Leu337=) single nucleotide variant Fanconi anemia [RCV005093150]|Hereditary cancer-predisposing syndrome [RCV001016996] Chr9:95117376 [GRCh38]
Chr9:97879658 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.*1675A>G single nucleotide variant Fanconi anemia complementation group C [RCV001165694] Chr9:95100032 [GRCh38]
Chr9:97862314 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*267G>A single nucleotide variant Fanconi anemia complementation group C [RCV001165771] Chr9:95101440 [GRCh38]
Chr9:97863722 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*2564C>T single nucleotide variant Fanconi anemia complementation group C [RCV001167224] Chr9:95099143 [GRCh38]
Chr9:97861425 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1307G>A (p.Arg436Lys) single nucleotide variant Fanconi anemia [RCV001041975]|Fanconi anemia complementation group C [RCV001273982]|Hereditary cancer-predisposing syndrome [RCV002379504] Chr9:95111485 [GRCh38]
Chr9:97873767 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.140A>G (p.Lys47Arg) single nucleotide variant Fanconi anemia [RCV001832333]|Hereditary cancer-predisposing syndrome [RCV001011434] Chr9:95249152 [GRCh38]
Chr9:98011434 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1418A>G (p.Gln473Arg) single nucleotide variant Fanconi anemia complementation group C [RCV001273979]|Hereditary cancer-predisposing syndrome [RCV001011440] Chr9:95107181 [GRCh38]
Chr9:97869463 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.61G>C (p.Val21Leu) single nucleotide variant Fanconi anemia [RCV002551910]|Fanconi anemia complementation group C [RCV001276599]|Hereditary cancer-predisposing syndrome [RCV001025004] Chr9:95249231 [GRCh38]
Chr9:98011513 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1458G>T (p.Leu486=) single nucleotide variant Fanconi anemia [RCV002068841]|Hereditary cancer-predisposing syndrome [RCV001011678] Chr9:95107141 [GRCh38]
Chr9:97869423 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.862C>T (p.Pro288Ser) single nucleotide variant Fanconi anemia [RCV001236591]|Hereditary cancer-predisposing syndrome [RCV001018100] Chr9:95126563 [GRCh38]
Chr9:97888845 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1531C>T (p.Leu511=) single nucleotide variant Fanconi anemia [RCV002549356]|Hereditary cancer-predisposing syndrome [RCV001012038] Chr9:95107068 [GRCh38]
Chr9:97869350 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.656T>A (p.Phe219Tyr) single nucleotide variant Fanconi anemia [RCV001832359]|Hereditary cancer-predisposing syndrome [RCV001025419] Chr9:95149953 [GRCh38]
Chr9:97912235 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.678C>T (p.Ala226=) single nucleotide variant Fanconi anemia [RCV001442556]|Hereditary cancer-predisposing syndrome [RCV001025647] Chr9:95149931 [GRCh38]
Chr9:97912213 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr) single nucleotide variant Fanconi anemia [RCV001052684]|Fanconi anemia complementation group C [RCV001274473]|Hereditary cancer-predisposing syndrome [RCV001018661]|not specified [RCV001819730] Chr9:95125181 [GRCh38]
Chr9:97887463 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.909G>C (p.Leu303=) single nucleotide variant Fanconi anemia [RCV001489172]|Hereditary cancer-predisposing syndrome [RCV001018846] Chr9:95125173 [GRCh38]
Chr9:97887455 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1615G>A (p.Glu539Lys) single nucleotide variant Fanconi anemia [RCV001215893]|Hereditary cancer-predisposing syndrome [RCV004033982] Chr9:95101769 [GRCh38]
Chr9:97864051 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.684G>A (p.Leu228=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025728] Chr9:95149925 [GRCh38]
Chr9:97912207 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1660C>T (p.Leu554=) single nucleotide variant Fanconi anemia [RCV001490592]|Hereditary cancer-predisposing syndrome [RCV001012560]|not provided [RCV003236853] Chr9:95101724 [GRCh38]
Chr9:97864006 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro) single nucleotide variant Fanconi anemia [RCV001038389]|Hereditary cancer-predisposing syndrome [RCV002427489]|not provided [RCV003238276] Chr9:95249269 [GRCh38]
Chr9:98011551 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter) single nucleotide variant Fanconi anemia [RCV001063564] Chr9:95249153 [GRCh38]
Chr9:98011435 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.706A>C (p.Met236Leu) single nucleotide variant Fanconi anemia [RCV001832362]|Hereditary cancer-predisposing syndrome [RCV001025993]|not provided [RCV002260675] Chr9:95135483 [GRCh38]
Chr9:97897765 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2		 pathogenic
NM_000136.3(FANCC):c.1533+1G>T single nucleotide variant Fanconi anemia [RCV001063719]|Fanconi anemia complementation group C [RCV001585965]|Hereditary cancer-predisposing syndrome [RCV002402446] Chr9:95107065 [GRCh38]
Chr9:97869347 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.250+1G>T single nucleotide variant Fanconi anemia complementation group C [RCV004690524] Chr9:95247431 [GRCh38]
Chr9:98009713 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter) single nucleotide variant Fanconi anemia complementation group C [RCV001263719] Chr9:95172140 [GRCh38]
Chr9:97934422 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter) single nucleotide variant Fanconi anemia complementation group C [RCV001263720] Chr9:95240671 [GRCh38]
Chr9:98002953 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) single nucleotide variant Fanconi anemia complementation group C [RCV001263721] Chr9:95240719 [GRCh38]
Chr9:98003001 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NC_000009.11:g.(?_98079798)_(98279100_?)del deletion Fanconi anemia [RCV001907962] Chr9:98079798..98279100 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter) single nucleotide variant Fanconi anemia complementation group C [RCV001264297] Chr9:95114699 [GRCh38]
Chr9:97876981 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter) single nucleotide variant Fanconi anemia complementation group C [RCV001264298] Chr9:95117358 [GRCh38]
Chr9:97879640 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter) single nucleotide variant Fanconi anemia complementation group C [RCV001264299] Chr9:95135396 [GRCh38]
Chr9:97897678 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter) single nucleotide variant Fanconi anemia complementation group C [RCV001264300] Chr9:95149948 [GRCh38]
Chr9:97912230 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter) single nucleotide variant Fanconi anemia complementation group C [RCV001264301] Chr9:95171136 [GRCh38]
Chr9:97933418 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln) single nucleotide variant Fanconi anemia [RCV001313289]|Fanconi anemia complementation group C [RCV002493637]|Hereditary cancer-predisposing syndrome [RCV002384390] Chr9:95135455 [GRCh38]
Chr9:97897737 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*9C>T single nucleotide variant not provided [RCV001580946] Chr9:95101698 [GRCh38]
Chr9:97863980 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.197C>T (p.Thr66Ile) single nucleotide variant Fanconi anemia [RCV001300254] Chr9:95247485 [GRCh38]
Chr9:98009767 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.843+5G>T single nucleotide variant Fanconi anemia [RCV001307465]|Hereditary cancer-predisposing syndrome [RCV002411985] Chr9:95135341 [GRCh38]
Chr9:97897623 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1112T>C (p.Ile371Thr) single nucleotide variant Fanconi anemia [RCV001307841] Chr9:95114671 [GRCh38]
Chr9:97876953 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.749T>C (p.Leu250Pro) single nucleotide variant Fanconi anemia [RCV001307899] Chr9:95135440 [GRCh38]
Chr9:97897722 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala) single nucleotide variant Fanconi anemia [RCV001296848]|Fanconi anemia complementation group C [RCV002504436]|Hereditary cancer-predisposing syndrome [RCV002447269] Chr9:95114647 [GRCh38]
Chr9:97876929 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.120G>C (p.Gln40His) single nucleotide variant Fanconi anemia [RCV001303767]|Hereditary cancer-predisposing syndrome [RCV002357104]|not provided [RCV005054359] Chr9:95249172 [GRCh38]
Chr9:98011454 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1563G>C (p.Glu521Asp) single nucleotide variant Fanconi anemia [RCV001337668]|Hereditary cancer-predisposing syndrome [RCV003294323] Chr9:95101821 [GRCh38]
Chr9:97864103 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.748C>T (p.Leu250Phe) single nucleotide variant Fanconi anemia [RCV001324541]|Hereditary cancer-predisposing syndrome [RCV003355393] Chr9:95135441 [GRCh38]
Chr9:97897723 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr) single nucleotide variant Fanconi anemia [RCV001372186]|Hereditary cancer-predisposing syndrome [RCV002438870]|not provided [RCV004590358] Chr9:95240716 [GRCh38]
Chr9:98002998 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe) single nucleotide variant Fanconi anemia [RCV001871922]|Malignant tumor of breast [RCV001354638] Chr9:95247469 [GRCh38]
Chr9:98009751 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.346G>C (p.Gly116Arg) single nucleotide variant Fanconi anemia [RCV001361827]|Hereditary cancer-predisposing syndrome [RCV003169807] Chr9:95172147 [GRCh38]
Chr9:97934429 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter) single nucleotide variant Fanconi anemia [RCV003635959]|Hereditary cancer-predisposing syndrome [RCV002377504]|not provided [RCV001356872] Chr9:95111520 [GRCh38]
Chr9:97873802 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.355_358del (p.Ser119fs) deletion Fanconi anemia [RCV001382846] Chr9:95172135..95172138 [GRCh38]
Chr9:97934417..97934420 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.166-165_250+3del deletion Malignant tumor of breast [RCV001355878] Chr9:95247429..95247681 [GRCh38]
Chr9:98009711..98009963 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1355A>G (p.His452Arg) single nucleotide variant Fanconi anemia [RCV001316820]|Fanconi anemia complementation group C [RCV002486246]|Hereditary cancer-predisposing syndrome [RCV002384400] Chr9:95107244 [GRCh38]
Chr9:97869526 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1330-19_1330-10del deletion Fanconi anemia [RCV002547605]|Malignant tumor of breast [RCV001355348] Chr9:95107279..95107288 [GRCh38]
Chr9:97869561..97869570 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.4G>A (p.Ala2Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341742]|not provided [RCV001355555] Chr9:95249288 [GRCh38]
Chr9:98011570 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-79+7G>C single nucleotide variant Fanconi anemia [RCV001396838] Chr9:95317519 [GRCh38]
Chr9:98079801 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-14T>G single nucleotide variant Fanconi anemia [RCV002070232]|Malignant tumor of breast [RCV001356228] Chr9:95111651 [GRCh38]
Chr9:97873933 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1217T>C (p.Met406Thr) single nucleotide variant Fanconi anemia [RCV001360267]|Hereditary cancer-predisposing syndrome [RCV002357221]|not provided [RCV005001213] Chr9:95111575 [GRCh38]
Chr9:97873857 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1088A>G (p.His363Arg) single nucleotide variant Fanconi anemia [RCV001313265] Chr9:95114695 [GRCh38]
Chr9:97876977 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1501G>A (p.Gly501Ser) single nucleotide variant Fanconi anemia [RCV001372019]|Hereditary cancer-predisposing syndrome [RCV002395843]|not provided [RCV004590357] Chr9:95107098 [GRCh38]
Chr9:97869380 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1129G>A (p.Glu377Lys) single nucleotide variant Fanconi anemia [RCV001344658] Chr9:95114654 [GRCh38]
Chr9:97876936 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1533+13G>A single nucleotide variant Fanconi anemia [RCV002070223]|Fanconi anemia complementation group C [RCV002476624]|Malignant tumor of breast [RCV001354456]|not provided [RCV001692373] Chr9:95107053 [GRCh38]
Chr9:97869335 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.1034C>T (p.Ser345Phe) single nucleotide variant Fanconi anemia [RCV001317677] Chr9:95117353 [GRCh38]
Chr9:97879635 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.697T>C (p.Ser233Pro) single nucleotide variant Malignant tumor of breast [RCV001355361]|not specified [RCV004526117] Chr9:95135492 [GRCh38]
Chr9:97897774 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.530C>T (p.Pro177Leu) single nucleotide variant Fanconi anemia [RCV001364772]|Hereditary cancer-predisposing syndrome [RCV002350686] Chr9:95150079 [GRCh38]
Chr9:97912361 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.902C>T (p.Ala301Val) single nucleotide variant Fanconi anemia [RCV001344863]|Fanconi anemia complementation group C [RCV005040203]|Hereditary cancer-predisposing syndrome [RCV002377464] Chr9:95125180 [GRCh38]
Chr9:97887462 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.266T>G (p.Ile89Ser) single nucleotide variant Fanconi anemia [RCV001371523] Chr9:95240728 [GRCh38]
Chr9:98003010 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.997-9C>G single nucleotide variant Malignant tumor of breast [RCV001356794]|not provided [RCV001567227] Chr9:95117399 [GRCh38]
Chr9:97879681 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1533+6T>A single nucleotide variant Fanconi anemia [RCV001349196] Chr9:95107060 [GRCh38]
Chr9:97869342 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-73A>T single nucleotide variant Fanconi anemia [RCV001337908] Chr9:95249364 [GRCh38]
Chr9:98011646 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1027T>G (p.Tyr343Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379753]|Premature ovarian failure [RCV001270214] Chr9:95117360 [GRCh38]
Chr9:97879642 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_97863983)_(98270649_?)dup duplication Fanconi anemia [RCV001307810] Chr9:97863983..98270649 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1330-10T>C single nucleotide variant Fanconi anemia [RCV001361656]|Fanconi anemia complementation group C [RCV005040216] Chr9:95107279 [GRCh38]
Chr9:97869561 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.521+5del deletion Fanconi anemia [RCV001359217]|Hereditary cancer-predisposing syndrome [RCV003375254] Chr9:95171074 [GRCh38]
Chr9:97933356 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.820T>A (p.Cys274Ser) single nucleotide variant Fanconi anemia [RCV001344376]|Hereditary cancer-predisposing syndrome [RCV002431968] Chr9:95135369 [GRCh38]
Chr9:97897651 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-78-1G>C single nucleotide variant Fanconi anemia [RCV001373069]|not provided [RCV005001216] Chr9:95249370 [GRCh38]
Chr9:98011652 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.469T>A (p.Leu157Ile) single nucleotide variant Fanconi anemia [RCV001340254]|Hereditary cancer-predisposing syndrome [RCV002341698] Chr9:95171131 [GRCh38]
Chr9:97933413 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_97863989)_(98279100_?)dup duplication Gorlin syndrome [RCV001313270] Chr9:97863989..98279100 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.521+5G>C single nucleotide variant Fanconi anemia [RCV001315508]|Hereditary cancer-predisposing syndrome [RCV002350574] Chr9:95171074 [GRCh38]
Chr9:97933356 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1627T>C (p.Ser543Pro) single nucleotide variant Fanconi anemia [RCV001360337] Chr9:95101757 [GRCh38]
Chr9:97864039 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1198T>G (p.Phe400Val) single nucleotide variant Fanconi anemia [RCV001366807]|Hereditary cancer-predisposing syndrome [RCV004619674] Chr9:95111594 [GRCh38]
Chr9:97873876 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_98002921)_(98079991_?)dup duplication Fanconi anemia [RCV001318734] Chr9:98002921..98079991 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.80C>G (p.Thr27Ser) single nucleotide variant Fanconi anemia [RCV001340915] Chr9:95249212 [GRCh38]
Chr9:98011494 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.541G>C (p.Ala181Pro) single nucleotide variant Malignant tumor of breast [RCV001354603] Chr9:95150068 [GRCh38]
Chr9:97912350 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.510C>T (p.Asn170=) single nucleotide variant Fanconi anemia [RCV001476046]|Hereditary cancer-predisposing syndrome [RCV002341740]|Malignant tumor of breast [RCV001354526] Chr9:95171090 [GRCh38]
Chr9:97933372 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.844-10C>T single nucleotide variant Fanconi anemia [RCV001413328] Chr9:95126591 [GRCh38]
Chr9:97888873 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1621C>T (p.Pro541Ser) single nucleotide variant Fanconi anemia [RCV001339286] Chr9:95101763 [GRCh38]
Chr9:97864045 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.583G>C (p.Asp195His) single nucleotide variant Fanconi anemia complementation group C [RCV001293974]|Hereditary cancer-predisposing syndrome [RCV002357076]|not provided [RCV001773597] Chr9:95150026 [GRCh38]
Chr9:97912308 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1329+115C>T single nucleotide variant Fanconi anemia complementation group C [RCV001294188] Chr9:95111348 [GRCh38]
Chr9:97873630 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr) single nucleotide variant Fanconi anemia [RCV001339677]|Fanconi anemia complementation group C [RCV002486362] Chr9:95240701 [GRCh38]
Chr9:98002983 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1294C>T (p.Pro432Ser) single nucleotide variant Fanconi anemia [RCV001359606]|not provided [RCV005001211] Chr9:95111498 [GRCh38]
Chr9:97873780 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1327_1328del (p.Met443fs) deletion Fanconi anemia [RCV001384637] Chr9:95111464..95111465 [GRCh38]
Chr9:97873746..97873747 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.-44G>A single nucleotide variant Fanconi anemia [RCV001438263] Chr9:95249335 [GRCh38]
Chr9:98011617 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+6C>T single nucleotide variant Fanconi anemia [RCV001416493] Chr9:95317520 [GRCh38]
Chr9:98079802 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.642C>A (p.Ile214=) single nucleotide variant Fanconi anemia [RCV001461699]|Hereditary cancer-predisposing syndrome [RCV002368413]|not provided [RCV003478848] Chr9:95149967 [GRCh38]
Chr9:97912249 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1630_1631insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTANNNNNNNNNNAAAAAAAAAAGAAAGCCCTAGATCAG (p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer) insertion Fanconi anemia [RCV001389469] Chr9:95101753..95101754 [GRCh38]
Chr9:97864035..97864036 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter) single nucleotide variant Fanconi anemia [RCV001389515] Chr9:95111611 [GRCh38]
Chr9:97873893 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.844-6T>C single nucleotide variant Fanconi anemia [RCV001475113] Chr9:95126587 [GRCh38]
Chr9:97888869 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.720C>A (p.Val240=) single nucleotide variant Fanconi anemia [RCV001485926] Chr9:95135469 [GRCh38]
Chr9:97897751 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1533+8T>C single nucleotide variant Fanconi anemia [RCV001502492] Chr9:95107058 [GRCh38]
Chr9:97869340 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.333C>T (p.Asn111=) single nucleotide variant Fanconi anemia [RCV001484760]|Hereditary cancer-predisposing syndrome [RCV002324076] Chr9:95240661 [GRCh38]
Chr9:98002943 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.228del (p.Cys75_Trp76insTer) deletion Fanconi anemia [RCV001385194] Chr9:95247454 [GRCh38]
Chr9:98009736 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.-64G>C single nucleotide variant Fanconi anemia [RCV001473931] Chr9:95249355 [GRCh38]
Chr9:98011637 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.51G>A (p.Gln17=) single nucleotide variant Fanconi anemia [RCV001474019] Chr9:95249241 [GRCh38]
Chr9:98011523 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.345+9G>T single nucleotide variant Fanconi anemia [RCV001425873] Chr9:95240640 [GRCh38]
Chr9:98002922 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.346-3del deletion FANCC-related disorder [RCV003980592]|Fanconi anemia [RCV001520466]|Hereditary cancer-predisposing syndrome [RCV002460164] Chr9:95172150 [GRCh38]
Chr9:97934432 [GRCh37]
Chr9:9q22.32		 benign|likely benign|uncertain significance
NM_000136.3(FANCC):c.-79+19952A>C single nucleotide variant not provided [RCV001538347] Chr9:95297574 [GRCh38]
Chr9:98059856 [GRCh37]
Chr9:9q22.32		 benign
NC_000009.11:g.(?_97863979)_(97864142_?)del deletion Fanconi anemia [RCV001386420] Chr9:97863979..97864142 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.11:g.(?_97876901)_(97879682_?)del deletion Fanconi anemia [RCV001386421] Chr9:97876901..97879682 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.11:g.(?_98009704)_(98011653_?)del deletion Fanconi anemia [RCV001386422] Chr9:98009704..98011653 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1257C>G (p.Pro419=) single nucleotide variant Fanconi anemia [RCV001406194]|Hereditary cancer-predisposing syndrome [RCV003170025] Chr9:95111535 [GRCh38]
Chr9:97873817 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.147T>C (p.Tyr49=) single nucleotide variant Fanconi anemia [RCV001434646]|Hereditary cancer-predisposing syndrome [RCV002395996] Chr9:95249145 [GRCh38]
Chr9:98011427 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-49T>C single nucleotide variant Fanconi anemia [RCV001480690] Chr9:95249340 [GRCh38]
Chr9:98011622 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1086A>G (p.Gly362=) single nucleotide variant Fanconi anemia [RCV001506115]|Hereditary cancer-predisposing syndrome [RCV003284357] Chr9:95114697 [GRCh38]
Chr9:97876979 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1503C>T (p.Gly501=) single nucleotide variant Fanconi anemia [RCV001478330]|Fanconi anemia complementation group C [RCV002501653]|Hereditary cancer-predisposing syndrome [RCV002396137] Chr9:95107096 [GRCh38]
Chr9:97869378 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.294T>C (p.Ile98=) single nucleotide variant Fanconi anemia [RCV001423998] Chr9:95240700 [GRCh38]
Chr9:98002982 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.319_340dup (p.Ile114delinsThrIleLysThrTer) duplication Fanconi anemia [RCV001388886] Chr9:95240653..95240654 [GRCh38]
Chr9:98002935..98002936 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1029C>T (p.Tyr343=) single nucleotide variant Fanconi anemia [RCV001498928] Chr9:95117358 [GRCh38]
Chr9:97879640 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1227G>A (p.Glu409=) single nucleotide variant Fanconi anemia [RCV001401731]|Hereditary cancer-predisposing syndrome [RCV002368261] Chr9:95111565 [GRCh38]
Chr9:97873847 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.132C>T (p.Phe44=) single nucleotide variant Fanconi anemia [RCV001406914]|Hereditary cancer-predisposing syndrome [RCV002384593]|not provided [RCV001638085] Chr9:95249160 [GRCh38]
Chr9:98011442 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000136.3(FANCC):c.226del (p.Trp76fs) deletion Fanconi anemia [RCV001387251] Chr9:95247456 [GRCh38]
Chr9:98009738 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.330T>C (p.Leu110=) single nucleotide variant Fanconi anemia [RCV001412043] Chr9:95240664 [GRCh38]
Chr9:98002946 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1199del (p.Phe400fs) deletion Fanconi anemia [RCV001381279] Chr9:95111593 [GRCh38]
Chr9:97873875 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.843+1G>T single nucleotide variant Fanconi anemia [RCV001378493]|Hereditary cancer-predisposing syndrome [RCV002447502] Chr9:95135345 [GRCh38]
Chr9:97897627 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.445T>C (p.Leu149=) single nucleotide variant Fanconi anemia [RCV001446672]|Hereditary cancer-predisposing syndrome [RCV002329506] Chr9:95172048 [GRCh38]
Chr9:97934330 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.345+9_345+11del deletion Fanconi anemia [RCV001410061]|not provided [RCV005001219] Chr9:95240638..95240640 [GRCh38]
Chr9:98002920..98002922 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.63A>G (p.Val21=) single nucleotide variant Fanconi anemia [RCV001430328]|Hereditary cancer-predisposing syndrome [RCV002368337] Chr9:95249229 [GRCh38]
Chr9:98011511 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1488C>T (p.Leu496=) single nucleotide variant Fanconi anemia [RCV001447122] Chr9:95107111 [GRCh38]
Chr9:97869393 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.250+9C>A single nucleotide variant Fanconi anemia [RCV001423669] Chr9:95247423 [GRCh38]
Chr9:98009705 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.591C>T (p.Asp197=) single nucleotide variant Fanconi anemia [RCV001449557] Chr9:95150018 [GRCh38]
Chr9:97912300 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.129G>A (p.Glu43=) single nucleotide variant Fanconi anemia [RCV001428673]|Hereditary cancer-predisposing syndrome [RCV004038263] Chr9:95249163 [GRCh38]
Chr9:98011445 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-52C>T single nucleotide variant Fanconi anemia [RCV001428686] Chr9:95249343 [GRCh38]
Chr9:98011625 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.204T>G (p.Gly68=) single nucleotide variant Fanconi anemia [RCV001441856]|Hereditary cancer-predisposing syndrome [RCV002420998] Chr9:95247478 [GRCh38]
Chr9:98009760 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.783A>T (p.Leu261=) single nucleotide variant Fanconi anemia [RCV001447466]|Hereditary cancer-predisposing syndrome [RCV003365401]|not provided [RCV003434233] Chr9:95135406 [GRCh38]
Chr9:97897688 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.166-10T>C single nucleotide variant Fanconi anemia [RCV001417682] Chr9:95247526 [GRCh38]
Chr9:98009808 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1572C>T (p.Gly524=) single nucleotide variant Fanconi anemia [RCV001410718] Chr9:95101812 [GRCh38]
Chr9:97864094 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.201del (p.Ile67fs) deletion Fanconi anemia [RCV001386396] Chr9:95247481 [GRCh38]
Chr9:98009763 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1534-10C>G single nucleotide variant Fanconi anemia [RCV001403915] Chr9:95101860 [GRCh38]
Chr9:97864142 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1098G>A (p.Gln366=) single nucleotide variant Fanconi anemia [RCV001408285]|Hereditary cancer-predisposing syndrome [RCV002456650] Chr9:95114685 [GRCh38]
Chr9:97876967 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1017C>A (p.Thr339=) single nucleotide variant Fanconi anemia [RCV001411056] Chr9:95117370 [GRCh38]
Chr9:97879652 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.552A>G (p.Ser184=) single nucleotide variant Fanconi anemia [RCV001398548]|Hereditary cancer-predisposing syndrome [RCV002350757] Chr9:95150057 [GRCh38]
Chr9:97912339 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1587C>G (p.Thr529=) single nucleotide variant Fanconi anemia [RCV001393771]|Hereditary cancer-predisposing syndrome [RCV004037742] Chr9:95101797 [GRCh38]
Chr9:97864079 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.120G>A (p.Gln40=) single nucleotide variant Fanconi anemia [RCV001443161]|Hereditary cancer-predisposing syndrome [RCV002358991] Chr9:95249172 [GRCh38]
Chr9:98011454 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.876G>T (p.Arg292=) single nucleotide variant Fanconi anemia [RCV001409024]|Hereditary cancer-predisposing syndrome [RCV004951693] Chr9:95126549 [GRCh38]
Chr9:97888831 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.690G>A (p.Lys230=) single nucleotide variant Fanconi anemia [RCV001505340] Chr9:95135499 [GRCh38]
Chr9:97897781 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1329+1149A>G single nucleotide variant not provided [RCV001508629] Chr9:95110314 [GRCh38]
Chr9:97872596 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.687-6T>C single nucleotide variant Fanconi anemia [RCV001464572] Chr9:95135508 [GRCh38]
Chr9:97897790 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.917A>T (p.Asp306Val) single nucleotide variant Fanconi anemia [RCV003635962]|Fanconi anemia complementation group C [RCV002476895]|Hereditary cancer-predisposing syndrome [RCV002370231]|not provided [RCV001593351] Chr9:95125165 [GRCh38]
Chr9:97887447 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1032T>C (p.Thr344=) single nucleotide variant Fanconi anemia [RCV001450891] Chr9:95117355 [GRCh38]
Chr9:97879637 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1440A>G (p.Arg480=) single nucleotide variant Fanconi anemia [RCV001486659]|Hereditary cancer-predisposing syndrome [RCV002396162] Chr9:95107159 [GRCh38]
Chr9:97869441 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-8del deletion Fanconi anemia [RCV001486751] Chr9:95111645 [GRCh38]
Chr9:97873927 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.744C>T (p.Pro248=) single nucleotide variant Fanconi anemia [RCV001459302] Chr9:95135445 [GRCh38]
Chr9:97897727 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.60T>C (p.Ser20=) single nucleotide variant Fanconi anemia [RCV001487064]|Hereditary cancer-predisposing syndrome [RCV002359093] Chr9:95249232 [GRCh38]
Chr9:98011514 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.166-9C>T single nucleotide variant Fanconi anemia [RCV001460857] Chr9:95247525 [GRCh38]
Chr9:98009807 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.873C>T (p.Phe291=) single nucleotide variant Fanconi anemia [RCV001501552] Chr9:95126552 [GRCh38]
Chr9:97888834 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.834T>C (p.Asp278=) single nucleotide variant Fanconi anemia [RCV001481653] Chr9:95135355 [GRCh38]
Chr9:97897637 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+8_-79+18del deletion Fanconi anemia [RCV001464095] Chr9:95317508..95317518 [GRCh38]
Chr9:98079790..98079800 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs) deletion Fanconi anemia [RCV001385163]|Fanconi anemia complementation group C [RCV003463004]|Hereditary cancer-predisposing syndrome [RCV004037669]|not provided [RCV003236895] Chr9:95107221..95107222 [GRCh38]
Chr9:97869503..97869504 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.840G>T (p.Ser280=) single nucleotide variant Fanconi anemia [RCV001467059]|Hereditary cancer-predisposing syndrome [RCV002449247] Chr9:95135349 [GRCh38]
Chr9:97897631 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1638G>A (p.Leu546=) single nucleotide variant Fanconi anemia [RCV001458367] Chr9:95101746 [GRCh38]
Chr9:97864028 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.844-8T>C single nucleotide variant Fanconi anemia [RCV001451272] Chr9:95126589 [GRCh38]
Chr9:97888871 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+7G>A single nucleotide variant Fanconi anemia [RCV001477791] Chr9:95317519 [GRCh38]
Chr9:98079801 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-7G>C single nucleotide variant Fanconi anemia [RCV001486431] Chr9:95111644 [GRCh38]
Chr9:97873926 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.251-10C>G single nucleotide variant Fanconi anemia [RCV001473838] Chr9:95240753 [GRCh38]
Chr9:98003035 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.633T>C (p.Pro211=) single nucleotide variant Fanconi anemia [RCV001442736]|Hereditary cancer-predisposing syndrome [RCV002368367] Chr9:95149976 [GRCh38]
Chr9:97912258 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.469T>C (p.Leu157=) single nucleotide variant Fanconi anemia [RCV001452642] Chr9:95171131 [GRCh38]
Chr9:97933413 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1212T>C (p.Ala404=) single nucleotide variant Fanconi anemia [RCV001496235]|Hereditary cancer-predisposing syndrome [RCV002359113] Chr9:95111580 [GRCh38]
Chr9:97873862 [GRCh37]
Chr9:9q22.32		 likely benign
NC_000009.11:g.(?_97863989)_(98279100_?)del deletion Gorlin syndrome [RCV001381801] Chr9:97863989..98279100 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.996+1G>C single nucleotide variant Fanconi anemia [RCV001378545] Chr9:95125085 [GRCh38]
Chr9:97887367 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1154+8A>G single nucleotide variant Fanconi anemia [RCV001427622] Chr9:95114621 [GRCh38]
Chr9:97876903 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1446T>C (p.Pro482=) single nucleotide variant Fanconi anemia [RCV001407212]|Hereditary cancer-predisposing syndrome [RCV002395920] Chr9:95107153 [GRCh38]
Chr9:97869435 [GRCh37]
Chr9:9q22.32		 likely benign
NC_000009.11:g.(?_97873735)_(97897794_?)del deletion Fanconi anemia [RCV001384215] Chr9:97873735..97897794 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1534-8G>T single nucleotide variant Fanconi anemia [RCV001416823]|not provided [RCV004707592] Chr9:95101858 [GRCh38]
Chr9:97864140 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.460del (p.Val154fs) deletion Fanconi anemia [RCV001386565]|Fanconi anemia complementation group C [RCV002476730] Chr9:95171140 [GRCh38]
Chr9:97933422 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.-18C>A single nucleotide variant Fanconi anemia [RCV001419099] Chr9:95249309 [GRCh38]
Chr9:98011591 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter) duplication Fanconi anemia complementation group C [RCV002249975] Chr9:95101730..95101731 [GRCh38]
Chr9:97864012..97864013 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.12:g.95317856C>G single nucleotide variant not provided [RCV002254056] Chr9:95317856 [GRCh38]
Chr9:98080138 [GRCh37]
Chr9:9q22.32		 likely benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_000136.3(FANCC):c.1002del (p.Phe335fs) deletion Fanconi anemia complementation group C [RCV001783249] Chr9:95117385 [GRCh38]
Chr9:97879667 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.214G>T (p.Ala72Ser) single nucleotide variant Fanconi anemia [RCV002540462]|Hereditary cancer-predisposing syndrome [RCV003289081]|not provided [RCV001761471] Chr9:95247468 [GRCh38]
Chr9:98009750 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu) single nucleotide variant Fanconi anemia [RCV002540734]|Fanconi anemia complementation group C [RCV001761864]|not provided [RCV002464487] Chr9:95249278 [GRCh38]
Chr9:98011560 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.610C>T (p.Leu204Phe) single nucleotide variant Fanconi anemia [RCV002257112] Chr9:95149999 [GRCh38]
Chr9:97912281 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1457T>C (p.Leu486Pro) single nucleotide variant Fanconi anemia [RCV002259206]|Hereditary cancer-predisposing syndrome [RCV002391383] Chr9:95107142 [GRCh38]
Chr9:97869424 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1131A>C (p.Glu377Asp) single nucleotide variant Fanconi anemia [RCV002540507]|Hereditary cancer-predisposing syndrome [RCV004616773]|not provided [RCV001764046] Chr9:95114652 [GRCh38]
Chr9:97876934 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.928G>A (p.Glu310Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370280]|not provided [RCV001770895] Chr9:95125154 [GRCh38]
Chr9:97887436 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.670A>G (p.Asn224Asp) single nucleotide variant not provided [RCV002280487] Chr9:95149939 [GRCh38]
Chr9:97912221 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.124del (p.Gln42fs) deletion Fanconi anemia complementation group C [RCV001783250] Chr9:95249168 [GRCh38]
Chr9:98011450 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.937G>C (p.Ala313Pro) single nucleotide variant not provided [RCV001763236] Chr9:95125145 [GRCh38]
Chr9:97887427 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1310A>T (p.Gln437Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298974]|not provided [RCV001752531] Chr9:95111482 [GRCh38]
Chr9:97873764 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.497T>G (p.Leu166Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334662]|not provided [RCV001754472] Chr9:95171103 [GRCh38]
Chr9:97933385 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1618delinsTTC (p.Ser540fs) indel not provided [RCV001800140] Chr9:95101766 [GRCh38]
Chr9:97864048 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1456C>G (p.Leu486Val) single nucleotide variant not provided [RCV001768476] Chr9:95107143 [GRCh38]
Chr9:97869425 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.2T>C (p.Met1Thr) single nucleotide variant Fanconi anemia [RCV005057617]|Fanconi anemia complementation group C [RCV001781081] Chr9:95249290 [GRCh38]
Chr9:98011572 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.817G>C (p.Glu273Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425065]|not provided [RCV003237511] Chr9:95135372 [GRCh38]
Chr9:97897654 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1502G>T (p.Gly501Val) single nucleotide variant Fanconi anemia [RCV002540536]|not provided [RCV001771347] Chr9:95107097 [GRCh38]
Chr9:97869379 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.461T>G (p.Val154Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334701]|not provided [RCV001800059] Chr9:95171139 [GRCh38]
Chr9:97933421 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1362G>A (p.Leu454=) single nucleotide variant not provided [RCV001786914] Chr9:95107237 [GRCh38]
Chr9:97869519 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-249_-242del deletion not specified [RCV001817369] Chr9:95317689..95317696 [GRCh38]
Chr9:98079971..98079978 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.691A>G (p.Lys231Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370337]|not specified [RCV001817454] Chr9:95135498 [GRCh38]
Chr9:97897780 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.495T>C (p.His165=) single nucleotide variant Fanconi anemia [RCV002074150]|not provided [RCV001801153] Chr9:95171105 [GRCh38]
Chr9:97933387 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.545C>T (p.Ser182Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343856]|not provided [RCV001797426] Chr9:95150064 [GRCh38]
Chr9:97912346 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.593C>G (p.Pro198Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359238]|not provided [RCV001757032] Chr9:95150016 [GRCh38]
Chr9:97912298 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1633_1635del (p.Lys545del) deletion not specified [RCV001817797] Chr9:95101749..95101751 [GRCh38]
Chr9:97864031..97864033 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-209C>A single nucleotide variant not specified [RCV001819496] Chr9:95317656 [GRCh38]
Chr9:98079938 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.251-4G>T single nucleotide variant not specified [RCV001819599] Chr9:95240747 [GRCh38]
Chr9:98003029 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-79+19563C>T single nucleotide variant not provided [RCV001822048] Chr9:95297963 [GRCh38]
Chr9:98060245 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-123C>A single nucleotide variant not specified [RCV001817223] Chr9:95317570 [GRCh38]
Chr9:98079852 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-119A>G single nucleotide variant not specified [RCV001820336] Chr9:95317566 [GRCh38]
Chr9:98079848 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.718G>A (p.Val240Ile) single nucleotide variant Fanconi anemia [RCV001915045]|Hereditary cancer-predisposing syndrome [RCV002370475] Chr9:95135471 [GRCh38]
Chr9:97897753 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.844-1G>T single nucleotide variant Fanconi anemia [RCV002040417] Chr9:95126582 [GRCh38]
Chr9:97888864 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1379G>A (p.Ser460Asn) single nucleotide variant Fanconi anemia [RCV001870606]|Hereditary cancer-predisposing syndrome [RCV003303255] Chr9:95107220 [GRCh38]
Chr9:97869502 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.290T>C (p.Leu97Pro) single nucleotide variant Fanconi anemia [RCV001949727]|Hereditary cancer-predisposing syndrome [RCV002441052] Chr9:95240704 [GRCh38]
Chr9:98002986 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1329G>A (p.Met443Ile) single nucleotide variant Fanconi anemia [RCV001914196]|Hereditary cancer-predisposing syndrome [RCV002386738] Chr9:95111463 [GRCh38]
Chr9:97873745 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.134T>G (p.Leu45Arg) single nucleotide variant Fanconi anemia [RCV001970758] Chr9:95249158 [GRCh38]
Chr9:98011440 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1087C>G (p.His363Asp) single nucleotide variant Fanconi anemia [RCV001965765] Chr9:95114696 [GRCh38]
Chr9:97876978 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1283T>G (p.Phe428Cys) single nucleotide variant Fanconi anemia [RCV001909972]|Hereditary cancer-predisposing syndrome [RCV004616861]|not provided [RCV002282646] Chr9:95111509 [GRCh38]
Chr9:97873791 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1450C>A (p.Gln484Lys) single nucleotide variant Fanconi anemia [RCV001945361] Chr9:95107149 [GRCh38]
Chr9:97869431 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.232C>G (p.Pro78Ala) single nucleotide variant Fanconi anemia [RCV001984652]|Fanconi anemia complementation group C [RCV005042554] Chr9:95247450 [GRCh38]
Chr9:98009732 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.53A>C (p.Lys18Thr) single nucleotide variant Fanconi anemia [RCV002021797] Chr9:95249239 [GRCh38]
Chr9:98011521 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NC_000009.11:g.(?_97863989)_(98079991_?)dup duplication Fanconi anemia [RCV001985046] Chr9:97863989..98079991 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9q22.32(chr9:97678918-98785455)x3 copy number gain not provided [RCV001827816] Chr9:97678918..98785455 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe) single nucleotide variant Fanconi anemia complementation group C [RCV001836608] Chr9:95149966 [GRCh38]
Chr9:97912248 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.167A>T (p.Asp56Val) single nucleotide variant Fanconi anemia [RCV002002929]|Hereditary cancer-predisposing syndrome [RCV004946984] Chr9:95247515 [GRCh38]
Chr9:98009797 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.723C>A (p.Cys241Ter) single nucleotide variant Fanconi anemia [RCV001947035] Chr9:95135466 [GRCh38]
Chr9:97897748 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.-79+24854T>C single nucleotide variant not provided [RCV001824484] Chr9:95292672 [GRCh38]
Chr9:98054954 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.1551G>C (p.Glu517Asp) single nucleotide variant Fanconi anemia [RCV001893869]|Hereditary cancer-predisposing syndrome [RCV002397871] Chr9:95101833 [GRCh38]
Chr9:97864115 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.574dup (p.Thr192fs) duplication Fanconi anemia [RCV001969831] Chr9:95150034..95150035 [GRCh38]
Chr9:97912316..97912317 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.957_958delinsTT (p.Gln320Ter) indel Fanconi anemia [RCV002007503] Chr9:95125124..95125125 [GRCh38]
Chr9:97887406..97887407 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.902C>A (p.Ala301Glu) single nucleotide variant Fanconi anemia [RCV002043000]|Hereditary cancer-predisposing syndrome [RCV002370710] Chr9:95125180 [GRCh38]
Chr9:97887462 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000136.3(FANCC):c.887A>G (p.Glu296Gly) single nucleotide variant Fanconi anemia [RCV001895656] Chr9:95126538 [GRCh38]
Chr9:97888820 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-73A>G single nucleotide variant Fanconi anemia [RCV001983774] Chr9:95249364 [GRCh38]
Chr9:98011646 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.705del (p.Met236fs) deletion Fanconi anemia [RCV001872257]|Fanconi anemia complementation group C [RCV003464174] Chr9:95135484 [GRCh38]
Chr9:97897766 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1218G>C (p.Met406Ile) single nucleotide variant Fanconi anemia [RCV001967511]|Hereditary cancer-predisposing syndrome [RCV002361261] Chr9:95111574 [GRCh38]
Chr9:97873856 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
GRCh37/hg19 9q22.32(chr9:97897613-97973416) copy number loss not specified [RCV002052824] Chr9:97897613..97973416 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1461C>G (p.Ile487Met) single nucleotide variant Fanconi anemia [RCV001870914]|Hereditary cancer-predisposing syndrome [RCV002388733] Chr9:95107138 [GRCh38]
Chr9:97869420 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn) single nucleotide variant Fanconi anemia [RCV002022619]|Hereditary cancer-predisposing syndrome [RCV002398090]|Ovarian cancer [RCV003154056]|not provided [RCV002282681] Chr9:95107070 [GRCh38]
Chr9:97869352 [GRCh37]
Chr9:9q22.32		 benign|uncertain significance
NM_000136.3(FANCC):c.470T>C (p.Leu157Ser) single nucleotide variant Fanconi anemia [RCV002042690]|Hereditary cancer-predisposing syndrome [RCV004616954] Chr9:95171130 [GRCh38]
Chr9:97933412 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.268C>A (p.Leu90Ile) single nucleotide variant Fanconi anemia [RCV001964566] Chr9:95240726 [GRCh38]
Chr9:98003008 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1364C>T (p.Ala455Val) single nucleotide variant Fanconi anemia [RCV001986157]|Hereditary cancer-predisposing syndrome [RCV002386861] Chr9:95107235 [GRCh38]
Chr9:97869517 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1150C>T (p.His384Tyr) single nucleotide variant Fanconi anemia [RCV001964599]|Hereditary cancer-predisposing syndrome [RCV002352601]|not provided [RCV004822961] Chr9:95114633 [GRCh38]
Chr9:97876915 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del deletion Fanconi anemia complementation group C [RCV001825105] Chr9:97869347..97869552 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.-79+2dup duplication Fanconi anemia [RCV001926209] Chr9:95317523..95317524 [GRCh38]
Chr9:98079805..98079806 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.430G>T (p.Asp144Tyr) single nucleotide variant Fanconi anemia [RCV001901855] Chr9:95172063 [GRCh38]
Chr9:97934345 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.340A>G (p.Ile114Val) single nucleotide variant Fanconi anemia [RCV002000441]|Hereditary cancer-predisposing syndrome [RCV002331563] Chr9:95240654 [GRCh38]
Chr9:98002936 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.683T>C (p.Leu228Ser) single nucleotide variant Fanconi anemia [RCV001963404] Chr9:95149926 [GRCh38]
Chr9:97912208 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1225G>A (p.Glu409Lys) single nucleotide variant Fanconi anemia [RCV002020209]|Hereditary cancer-predisposing syndrome [RCV002361382] Chr9:95111567 [GRCh38]
Chr9:97873849 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.456+1G>A single nucleotide variant Fanconi anemia [RCV002019542] Chr9:95172036 [GRCh38]
Chr9:97934318 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NC_000009.11:g.(?_98009704)_(98009808_?)del deletion Fanconi anemia [RCV001941939] Chr9:98009704..98009808 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter) single nucleotide variant Fanconi anemia [RCV001941835]|Fanconi anemia complementation group C [RCV005042593] Chr9:95107109 [GRCh38]
Chr9:97869391 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NC_000009.11:g.(?_97365663)_(99064386_?)dup duplication not provided [RCV001943145] Chr9:97365663..99064386 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.585T>G (p.Asp195Glu) single nucleotide variant Fanconi anemia [RCV001958509]|Hereditary cancer-predisposing syndrome [RCV002352635] Chr9:95150024 [GRCh38]
Chr9:97912306 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.916_917del (p.Asp306fs) deletion Fanconi anemia [RCV001941540] Chr9:95125165..95125166 [GRCh38]
Chr9:97887447..97887448 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) deletion Fanconi anemia [RCV001875359]|Fanconi anemia complementation group C [RCV002503489]|Hereditary cancer-predisposing syndrome [RCV002440973] Chr9:95240701..95240710 [GRCh38]
Chr9:98002983..98002992 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.374T>C (p.Leu125Pro) single nucleotide variant Fanconi anemia [RCV001888786] Chr9:95172119 [GRCh38]
Chr9:97934401 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.874C>T (p.Arg292Trp) single nucleotide variant Fanconi anemia [RCV001974934]|Hereditary cancer-predisposing syndrome [RCV002370578] Chr9:95126551 [GRCh38]
Chr9:97888833 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.875G>C (p.Arg292Pro) single nucleotide variant Fanconi anemia [RCV002014076]|Hereditary cancer-predisposing syndrome [RCV004947041] Chr9:95126550 [GRCh38]
Chr9:97888832 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.896+2T>A single nucleotide variant Fanconi anemia [RCV002036364]|Fanconi anemia complementation group C [RCV005042703] Chr9:95126527 [GRCh38]
Chr9:97888809 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.844-6T>G single nucleotide variant Fanconi anemia [RCV002012955] Chr9:95126587 [GRCh38]
Chr9:97888869 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.189A>T (p.Arg63Ser) single nucleotide variant Fanconi anemia [RCV001933944]|Hereditary cancer-predisposing syndrome [RCV004042983]|not provided [RCV005001256] Chr9:95247493 [GRCh38]
Chr9:98009775 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.514C>G (p.Gln172Glu) single nucleotide variant Fanconi anemia [RCV002010637]|Hereditary cancer-predisposing syndrome [RCV002337119] Chr9:95171086 [GRCh38]
Chr9:97933368 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.821G>T (p.Cys274Phe) single nucleotide variant Fanconi anemia [RCV002051024] Chr9:95135368 [GRCh38]
Chr9:97897650 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_97863979)_(97934439_?)del deletion Fanconi anemia [RCV001956105] Chr9:97863979..97934439 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.849A>G (p.Gln283=) single nucleotide variant Fanconi anemia [RCV002015253]|Hereditary cancer-predisposing syndrome [RCV002443019] Chr9:95126576 [GRCh38]
Chr9:97888858 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1654A>C (p.Lys552Gln) single nucleotide variant Fanconi anemia [RCV001917359]|Hereditary cancer-predisposing syndrome [RCV002397850]|not provided [RCV004774506] Chr9:95101730 [GRCh38]
Chr9:97864012 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1155-2A>G single nucleotide variant Fanconi anemia [RCV001977768] Chr9:95111639 [GRCh38]
Chr9:97873921 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.599T>A (p.Val200Glu) single nucleotide variant Fanconi anemia [RCV001996366] Chr9:95150010 [GRCh38]
Chr9:97912292 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1132G>A (p.Ala378Thr) single nucleotide variant Fanconi anemia [RCV001976564] Chr9:95114651 [GRCh38]
Chr9:97876933 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.635del (p.Gln212fs) deletion Fanconi anemia [RCV001923840] Chr9:95149974 [GRCh38]
Chr9:97912256 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) single nucleotide variant Fanconi anemia [RCV002035479]|Fanconi anemia complementation group C [RCV004571704]|Hereditary cancer-predisposing syndrome [RCV002442941] Chr9:95247455 [GRCh38]
Chr9:98009737 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.764T>C (p.Leu255Pro) single nucleotide variant Fanconi anemia [RCV001897846] Chr9:95135425 [GRCh38]
Chr9:97897707 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1023T>G (p.Phe341Leu) single nucleotide variant Fanconi anemia [RCV001885805]|Hereditary cancer-predisposing syndrome [RCV004616822] Chr9:95117364 [GRCh38]
Chr9:97879646 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.381del (p.Phe127fs) deletion Fanconi anemia [RCV001921014]|Fanconi anemia complementation group C [RCV005042515]|Hereditary cancer-predisposing syndrome [RCV002359417] Chr9:95172112 [GRCh38]
Chr9:97934394 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NC_000009.11:g.(?_97876901)_(97934439_?)dup duplication Fanconi anemia [RCV002028901] Chr9:97876901..97934439 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.803G>A (p.Cys268Tyr) single nucleotide variant Fanconi anemia [RCV001998555] Chr9:95135386 [GRCh38]
Chr9:97897668 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1330-2A>C single nucleotide variant Fanconi anemia [RCV002050320] Chr9:95107271 [GRCh38]
Chr9:97869553 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.863del (p.Pro288fs) deletion Fanconi anemia [RCV001937644]|Hereditary cancer-predisposing syndrome [RCV002370502] Chr9:95126562 [GRCh38]
Chr9:97888844 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.811A>G (p.Arg271Gly) single nucleotide variant Fanconi anemia [RCV001875674] Chr9:95135378 [GRCh38]
Chr9:97897660 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.293_296del (p.Ile98fs) deletion Fanconi anemia [RCV001957391] Chr9:95240698..95240701 [GRCh38]
Chr9:98002980..98002983 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.422C>T (p.Ala141Val) single nucleotide variant Fanconi anemia [RCV001922237]|Hereditary cancer-predisposing syndrome [RCV002331398] Chr9:95172071 [GRCh38]
Chr9:97934353 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.972A>C (p.Glu324Asp) single nucleotide variant Fanconi anemia [RCV001866775]|Hereditary cancer-predisposing syndrome [RCV002370368] Chr9:95125110 [GRCh38]
Chr9:97887392 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_97861619)_(97869538_?)del deletion Fanconi anemia [RCV001958932] Chr9:97861619..97869538 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.816C>G (p.Ile272Met) single nucleotide variant Fanconi anemia [RCV001996931]|Hereditary cancer-predisposing syndrome [RCV002423124]|not specified [RCV002246613] Chr9:95135373 [GRCh38]
Chr9:97897655 [GRCh37]
Chr9:9q22.32		 benign|uncertain significance
NM_000136.3(FANCC):c.1346T>C (p.Val449Ala) single nucleotide variant Fanconi anemia [RCV001939149] Chr9:95107253 [GRCh38]
Chr9:97869535 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.813G>T (p.Arg271Ser) single nucleotide variant Fanconi anemia [RCV001884172] Chr9:95135376 [GRCh38]
Chr9:97897658 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr) single nucleotide variant Fanconi anemia [RCV001960384]|Hereditary cancer-predisposing syndrome [RCV002388909]|not specified [RCV002246607] Chr9:95249152 [GRCh38]
Chr9:98011434 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser) single nucleotide variant Fanconi anemia [RCV001961333]|Fanconi anemia complementation group C [RCV002492174]|Hereditary cancer-predisposing syndrome [RCV002423167] Chr9:95111540 [GRCh38]
Chr9:97873822 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_98002921)_(98011661_?)del deletion Fanconi anemia [RCV001956502] Chr9:98002921..98011661 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1301A>G (p.Asp434Gly) single nucleotide variant Fanconi anemia [RCV001978620]|Hereditary cancer-predisposing syndrome [RCV002386860] Chr9:95111491 [GRCh38]
Chr9:97873773 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.250+1G>A single nucleotide variant Fanconi anemia [RCV001975645] Chr9:95247431 [GRCh38]
Chr9:98009713 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1072+3G>C single nucleotide variant Fanconi anemia [RCV002012555] Chr9:95117312 [GRCh38]
Chr9:97879594 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.391G>A (p.Val131Ile) single nucleotide variant Fanconi anemia [RCV001922120]|Fanconi anemia complementation group C [RCV003325237]|Hereditary cancer-predisposing syndrome [RCV002370437] Chr9:95172102 [GRCh38]
Chr9:97934384 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.900T>G (p.Cys300Trp) single nucleotide variant Fanconi anemia [RCV001904579] Chr9:95125182 [GRCh38]
Chr9:97887464 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) single nucleotide variant Fanconi anemia [RCV001993301]|Fanconi anemia complementation group C [RCV004571701]|Hereditary cancer-predisposing syndrome [RCV004043989] Chr9:95249247 [GRCh38]
Chr9:98011529 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.126G>A (p.Gln42=) single nucleotide variant Fanconi anemia [RCV002190121]|Hereditary cancer-predisposing syndrome [RCV003303724] Chr9:95249166 [GRCh38]
Chr9:98011448 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.396T>A (p.Ala132=) single nucleotide variant Fanconi anemia [RCV002108832] Chr9:95172097 [GRCh38]
Chr9:97934379 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.657C>T (p.Phe219=) single nucleotide variant Fanconi anemia [RCV002166799] Chr9:95149952 [GRCh38]
Chr9:97912234 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.156G>A (p.Leu52=) single nucleotide variant Fanconi anemia [RCV002090252] Chr9:95249136 [GRCh38]
Chr9:98011418 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.102C>G (p.Thr34=) single nucleotide variant Fanconi anemia [RCV002147020] Chr9:95249190 [GRCh38]
Chr9:98011472 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.997-12A>G single nucleotide variant Fanconi anemia [RCV002106171] Chr9:95117402 [GRCh38]
Chr9:97879684 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.251-5T>C single nucleotide variant Fanconi anemia [RCV002165606] Chr9:95240748 [GRCh38]
Chr9:98003030 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1365A>C (p.Ala455=) single nucleotide variant Fanconi anemia [RCV002071439]|Hereditary cancer-predisposing syndrome [RCV002386951] Chr9:95107234 [GRCh38]
Chr9:97869516 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.251-12T>G single nucleotide variant Fanconi anemia [RCV002190334] Chr9:95240755 [GRCh38]
Chr9:98003037 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.306A>G (p.Pro102=) single nucleotide variant Fanconi anemia [RCV002205333]|Hereditary cancer-predisposing syndrome [RCV004045623] Chr9:95240688 [GRCh38]
Chr9:98002970 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1073-10C>T single nucleotide variant Fanconi anemia [RCV002127730] Chr9:95114720 [GRCh38]
Chr9:97877002 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1455G>A (p.Gln485=) single nucleotide variant Fanconi anemia [RCV002130260]|Hereditary cancer-predisposing syndrome [RCV002391299] Chr9:95107144 [GRCh38]
Chr9:97869426 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1437C>T (p.Leu479=) single nucleotide variant Fanconi anemia [RCV002130498]|Hereditary cancer-predisposing syndrome [RCV002391307] Chr9:95107162 [GRCh38]
Chr9:97869444 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter) single nucleotide variant Fanconi anemia complementation group C [RCV002249976] Chr9:95240735 [GRCh38]
Chr9:98003017 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.903A>G (p.Ala301=) single nucleotide variant Fanconi anemia [RCV002187759]|Hereditary cancer-predisposing syndrome [RCV004045558] Chr9:95125179 [GRCh38]
Chr9:97887461 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.735G>A (p.Arg245=) single nucleotide variant Fanconi anemia [RCV002207939] Chr9:95135454 [GRCh38]
Chr9:97897736 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.250+10A>T single nucleotide variant Fanconi anemia [RCV002085232] Chr9:95247422 [GRCh38]
Chr9:98009704 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.996+19A>G single nucleotide variant Fanconi anemia [RCV002111979] Chr9:95125067 [GRCh38]
Chr9:97887349 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.417G>T (p.Gly139=) single nucleotide variant Fanconi anemia [RCV002088825]|Hereditary cancer-predisposing syndrome [RCV004947115]|not provided [RCV003434407] Chr9:95172076 [GRCh38]
Chr9:97934358 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.346-9G>C single nucleotide variant Fanconi anemia [RCV002085558] Chr9:95172156 [GRCh38]
Chr9:97934438 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.345+18G>T single nucleotide variant Fanconi anemia [RCV002134304] Chr9:95240631 [GRCh38]
Chr9:98002913 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-4A>G single nucleotide variant Fanconi anemia [RCV002197227] Chr9:95135506 [GRCh38]
Chr9:97897788 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.921G>A (p.Gly307=) single nucleotide variant Fanconi anemia [RCV002153868]|Hereditary cancer-predisposing syndrome [RCV003161639] Chr9:95125161 [GRCh38]
Chr9:97887443 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1059G>A (p.Leu353=) single nucleotide variant Fanconi anemia [RCV002097310]|Hereditary cancer-predisposing syndrome [RCV002398208] Chr9:95117328 [GRCh38]
Chr9:97879610 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.456+8T>C single nucleotide variant Fanconi anemia [RCV002194200] Chr9:95172029 [GRCh38]
Chr9:97934311 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1248C>G (p.Ala416=) single nucleotide variant Fanconi anemia [RCV002090990]|Hereditary cancer-predisposing syndrome [RCV002391225] Chr9:95111544 [GRCh38]
Chr9:97873826 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.981G>A (p.Glu327=) single nucleotide variant Fanconi anemia [RCV002078370] Chr9:95125101 [GRCh38]
Chr9:97887383 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-78-9T>C single nucleotide variant Fanconi anemia [RCV002196177] Chr9:95249378 [GRCh38]
Chr9:98011660 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1293C>A (p.Gly431=) single nucleotide variant Fanconi anemia [RCV002076467]|Hereditary cancer-predisposing syndrome [RCV004046433] Chr9:95111499 [GRCh38]
Chr9:97873781 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.783A>G (p.Leu261=) single nucleotide variant Fanconi anemia [RCV002207994] Chr9:95135406 [GRCh38]
Chr9:97897688 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.166-6T>C single nucleotide variant Fanconi anemia [RCV002172787] Chr9:95247522 [GRCh38]
Chr9:98009804 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.996+17A>G single nucleotide variant Fanconi anemia [RCV002135000] Chr9:95125069 [GRCh38]
Chr9:97887351 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.457-12T>G single nucleotide variant Fanconi anemia [RCV002078578] Chr9:95171155 [GRCh38]
Chr9:97933437 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.896+16T>C single nucleotide variant Fanconi anemia [RCV002133585] Chr9:95126513 [GRCh38]
Chr9:97888795 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-33G>A single nucleotide variant Fanconi anemia [RCV002079910] Chr9:95249324 [GRCh38]
Chr9:98011606 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.346-12T>C single nucleotide variant Fanconi anemia [RCV002110152] Chr9:95172159 [GRCh38]
Chr9:97934441 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-62C>G single nucleotide variant Fanconi anemia [RCV002135036] Chr9:95249353 [GRCh38]
Chr9:98011635 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.279C>T (p.Cys93=) single nucleotide variant Fanconi anemia [RCV002135037] Chr9:95240715 [GRCh38]
Chr9:98002997 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1125C>G (p.Leu375=) single nucleotide variant Fanconi anemia [RCV002150881]|Hereditary cancer-predisposing syndrome [RCV002434561] Chr9:95114658 [GRCh38]
Chr9:97876940 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-78-5del deletion Fanconi anemia [RCV002194621] Chr9:95249374 [GRCh38]
Chr9:98011656 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.666T>C (p.Ala222=) single nucleotide variant Fanconi anemia [RCV002134172]|Hereditary cancer-predisposing syndrome [RCV002363676] Chr9:95149943 [GRCh38]
Chr9:97912225 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.250+18G>A single nucleotide variant Fanconi anemia [RCV002110841] Chr9:95247414 [GRCh38]
Chr9:98009696 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1089C>T (p.His363=) single nucleotide variant Fanconi anemia [RCV002079987] Chr9:95114694 [GRCh38]
Chr9:97876976 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.390A>G (p.Glu130=) single nucleotide variant Fanconi anemia [RCV002211740] Chr9:95172103 [GRCh38]
Chr9:97934385 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.897-6G>A single nucleotide variant Fanconi anemia [RCV002115271] Chr9:95125191 [GRCh38]
Chr9:97887473 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.807G>A (p.Leu269=) single nucleotide variant Fanconi anemia [RCV002173048] Chr9:95135382 [GRCh38]
Chr9:97897664 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter) single nucleotide variant Fanconi anemia complementation group C [RCV003460184] Chr9:95114691 [GRCh38]
Chr9:97876973 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer) deletion Fanconi anemia complementation group C [RCV003460185] Chr9:95135440..95135444 [GRCh38]
Chr9:97897722..97897726 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.456+8T>G single nucleotide variant Fanconi anemia [RCV002193646] Chr9:95172029 [GRCh38]
Chr9:97934311 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1188G>A (p.Leu396=) single nucleotide variant Fanconi anemia [RCV002173765] Chr9:95111604 [GRCh38]
Chr9:97873886 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-34T>C single nucleotide variant Fanconi anemia [RCV002153274] Chr9:95249325 [GRCh38]
Chr9:98011607 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.463T>C (p.Leu155=) single nucleotide variant Fanconi anemia [RCV002077411] Chr9:95171137 [GRCh38]
Chr9:97933419 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1072+9G>A single nucleotide variant Fanconi anemia [RCV002215817] Chr9:95117306 [GRCh38]
Chr9:97879588 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1534-20C>T single nucleotide variant Fanconi anemia [RCV002170184] Chr9:95101870 [GRCh38]
Chr9:97864152 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1539T>C (p.Ala513=) single nucleotide variant Fanconi anemia [RCV002201089] Chr9:95101845 [GRCh38]
Chr9:97864127 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.27T>C (p.Ser9=) single nucleotide variant Fanconi anemia [RCV002179377]|Hereditary cancer-predisposing syndrome [RCV002441256] Chr9:95249265 [GRCh38]
Chr9:98011547 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1458G>C (p.Leu486=) single nucleotide variant Fanconi anemia [RCV002200333] Chr9:95107141 [GRCh38]
Chr9:97869423 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-9T>G single nucleotide variant Fanconi anemia [RCV002204120] Chr9:95135511 [GRCh38]
Chr9:97897793 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.165+9T>A single nucleotide variant Fanconi anemia [RCV002081982] Chr9:95249118 [GRCh38]
Chr9:98011400 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1534-5T>C single nucleotide variant Fanconi anemia [RCV002179760]|Hereditary cancer-predisposing syndrome [RCV003161357] Chr9:95101855 [GRCh38]
Chr9:97864137 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.642C>T (p.Ile214=) single nucleotide variant Fanconi anemia [RCV002155058]|Hereditary cancer-predisposing syndrome [RCV002361429] Chr9:95149967 [GRCh38]
Chr9:97912249 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.251-10C>T single nucleotide variant Fanconi anemia [RCV002082510] Chr9:95240753 [GRCh38]
Chr9:98003035 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.577C>T (p.Leu193=) single nucleotide variant Fanconi anemia [RCV002184528]|Hereditary cancer-predisposing syndrome [RCV002352946] Chr9:95150032 [GRCh38]
Chr9:97912314 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.843+9del deletion Fanconi anemia [RCV002163270] Chr9:95135337 [GRCh38]
Chr9:97897619 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-11C>T single nucleotide variant not provided [RCV002244506] Chr9:95111648 [GRCh38]
Chr9:97873930 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.686+10A>G single nucleotide variant Fanconi anemia [RCV002181395] Chr9:95149913 [GRCh38]
Chr9:97912195 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.843+12G>A single nucleotide variant Fanconi anemia [RCV002081570]|Fanconi anemia complementation group C [RCV002500107] Chr9:95135334 [GRCh38]
Chr9:97897616 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1154+14G>A single nucleotide variant Fanconi anemia [RCV002119810] Chr9:95114615 [GRCh38]
Chr9:97876897 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.321A>G (p.Gln107=) single nucleotide variant Fanconi anemia [RCV002183243]|Hereditary cancer-predisposing syndrome [RCV002443203] Chr9:95240673 [GRCh38]
Chr9:98002955 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.896+11C>G single nucleotide variant Fanconi anemia [RCV002120066] Chr9:95126518 [GRCh38]
Chr9:97888800 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1154+17C>T single nucleotide variant Fanconi anemia [RCV002163702] Chr9:95114612 [GRCh38]
Chr9:97876894 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.896+14T>C single nucleotide variant Fanconi anemia [RCV002098552]|Fanconi anemia complementation group C [RCV002507976] Chr9:95126515 [GRCh38]
Chr9:97888797 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.686+8G>A single nucleotide variant Fanconi anemia [RCV002083963] Chr9:95149915 [GRCh38]
Chr9:97912197 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1588T>C (p.Leu530=) single nucleotide variant Fanconi anemia [RCV002142159]|Hereditary cancer-predisposing syndrome [RCV002398242]|not provided [RCV004809773] Chr9:95101796 [GRCh38]
Chr9:97864078 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.632C>T (p.Pro211Leu) single nucleotide variant Fanconi anemia [RCV002257113]|Hereditary cancer-predisposing syndrome [RCV004948663] Chr9:95149977 [GRCh38]
Chr9:97912259 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.744C>G (p.Pro248=) single nucleotide variant Fanconi anemia [RCV002199297] Chr9:95135445 [GRCh38]
Chr9:97897727 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1310A>C (p.Gln437Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003308063]|not specified [RCV002223068] Chr9:95111482 [GRCh38]
Chr9:97873764 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.540G>A (p.Val180=) single nucleotide variant Fanconi anemia [RCV002182296] Chr9:95150069 [GRCh38]
Chr9:97912351 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1299T>G (p.Arg433=) single nucleotide variant Fanconi anemia [RCV002200606] Chr9:95111493 [GRCh38]
Chr9:97873775 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1483C>T (p.Leu495=) single nucleotide variant Fanconi anemia [RCV002160051] Chr9:95107116 [GRCh38]
Chr9:97869398 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.165+17A>G single nucleotide variant Fanconi anemia [RCV002200884]|Fanconi anemia complementation group C [RCV002500403] Chr9:95249110 [GRCh38]
Chr9:98011392 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-14del deletion Fanconi anemia [RCV002183525] Chr9:95249305 [GRCh38]
Chr9:98011587 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1350G>A (p.Leu450=) single nucleotide variant Fanconi anemia [RCV002118782]|Hereditary cancer-predisposing syndrome [RCV002382413] Chr9:95107249 [GRCh38]
Chr9:97869531 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.663G>A (p.Glu221=) single nucleotide variant Fanconi anemia [RCV002159269]|Hereditary cancer-predisposing syndrome [RCV002363691] Chr9:95149946 [GRCh38]
Chr9:97912228 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.957G>T (p.Thr319=) single nucleotide variant Fanconi anemia [RCV002216661] Chr9:95125125 [GRCh38]
Chr9:97887407 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1530C>G (p.Thr510=) single nucleotide variant Fanconi anemia [RCV002199938]|Hereditary cancer-predisposing syndrome [RCV002398179] Chr9:95107069 [GRCh38]
Chr9:97869351 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-21C>T single nucleotide variant Fanconi anemia [RCV002098837] Chr9:95249312 [GRCh38]
Chr9:98011594 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.250+15C>T single nucleotide variant Fanconi anemia [RCV002120493] Chr9:95247417 [GRCh38]
Chr9:98009699 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.457-9G>A single nucleotide variant Fanconi anemia [RCV002198876] Chr9:95171152 [GRCh38]
Chr9:97933434 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1371C>G (p.Ser457=) single nucleotide variant Fanconi anemia [RCV002202584] Chr9:95107228 [GRCh38]
Chr9:97869510 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1371C>T (p.Ser457=) single nucleotide variant Fanconi anemia [RCV002120857] Chr9:95107228 [GRCh38]
Chr9:97869510 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.211T>C (p.Leu71=) single nucleotide variant Fanconi anemia [RCV002082917] Chr9:95247471 [GRCh38]
Chr9:98009753 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.924C>T (p.Ala308=) single nucleotide variant Fanconi anemia [RCV002163428]|Hereditary cancer-predisposing syndrome [RCV002373009] Chr9:95125158 [GRCh38]
Chr9:97887440 [GRCh37]
Chr9:9q22.32		 likely benign
NC_000009.11:g.(?_97897618)_(97912379_?)del deletion Fanconi anemia [RCV003119388] Chr9:97897618..97912379 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1233dup (p.Leu412fs) duplication Hereditary cancer-predisposing syndrome [RCV003296417] Chr9:95111558..95111559 [GRCh38]
Chr9:97873840..97873841 [GRCh37]
Chr9:9q22.32		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_000136.3(FANCC):c.-79+19942T>C single nucleotide variant not provided [RCV002272086] Chr9:95297584 [GRCh38]
Chr9:98059866 [GRCh37]
Chr9:9q22.32		 likely benign
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 copy number loss Gorlin syndrome [RCV002279743] Chr9:93864974..106661581 [GRCh37]
Chr9:9q22.2-31.1		 pathogenic
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter) single nucleotide variant Fanconi anemia complementation group C [RCV002281839] Chr9:95171086 [GRCh38]
Chr9:97933368 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1255_1257del (p.Pro419del) deletion Hereditary cancer-predisposing syndrome [RCV002419159] Chr9:95111535..95111537 [GRCh38]
Chr9:97873817..97873819 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.954del (p.Phe318fs) deletion Hereditary cancer-predisposing syndrome [RCV002385173] Chr9:95125128 [GRCh38]
Chr9:97887410 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1033T>G (p.Ser345Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004047494]|not provided [RCV002272065] Chr9:95117354 [GRCh38]
Chr9:97879636 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.272T>A (p.Ile91Lys) single nucleotide variant not provided [RCV002287076] Chr9:95240722 [GRCh38]
Chr9:98003004 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_000136.3(FANCC):c.371C>A (p.Ala124Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349068] Chr9:95172122 [GRCh38]
Chr9:97934404 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1542C>G (p.His514Gln) single nucleotide variant Fanconi anemia [RCV002297046]|Hereditary cancer-predisposing syndrome [RCV003365730] Chr9:95101842 [GRCh38]
Chr9:97864124 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.801T>G (p.Asn267Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419272] Chr9:95135388 [GRCh38]
Chr9:97897670 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.742C>T (p.Pro248Ser) single nucleotide variant Fanconi anemia [RCV003635988]|Hereditary cancer-predisposing syndrome [RCV002385014] Chr9:95135447 [GRCh38]
Chr9:97897729 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1200C>G (p.Phe400Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349402] Chr9:95111592 [GRCh38]
Chr9:97873874 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.805C>G (p.Leu269Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419348] Chr9:95135384 [GRCh38]
Chr9:97897666 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.743C>G (p.Pro248Arg) single nucleotide variant Fanconi anemia [RCV003099636]|Hereditary cancer-predisposing syndrome [RCV002385059] Chr9:95135446 [GRCh38]
Chr9:97897728 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.265dup (p.Ile89fs) duplication Fanconi anemia [RCV003523136]|Fanconi anemia complementation group C [RCV004571154]|Hereditary cancer-predisposing syndrome [RCV002453122] Chr9:95240728..95240729 [GRCh38]
Chr9:98003010..98003011 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.676G>A (p.Ala226Thr) single nucleotide variant Fanconi anemia [RCV003098372]|Hereditary cancer-predisposing syndrome [RCV002369310] Chr9:95149933 [GRCh38]
Chr9:97912215 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1109A>C (p.His370Pro) single nucleotide variant Fanconi anemia [RCV005058824]|Hereditary cancer-predisposing syndrome [RCV002453132]|not provided [RCV003164553] Chr9:95114674 [GRCh38]
Chr9:97876956 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1329+4G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385849] Chr9:95111459 [GRCh38]
Chr9:97873741 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.299A>C (p.Lys100Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435573] Chr9:95240695 [GRCh38]
Chr9:98002977 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.814A>G (p.Ile272Val) single nucleotide variant Fanconi anemia [RCV003776482]|Hereditary cancer-predisposing syndrome [RCV002421385] Chr9:95135375 [GRCh38]
Chr9:97897657 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.592C>T (p.Pro198Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352963]|not specified [RCV002266235] Chr9:95150017 [GRCh38]
Chr9:97912299 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.25T>A (p.Ser9Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437134] Chr9:95249267 [GRCh38]
Chr9:98011549 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1111A>G (p.Ile371Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453225] Chr9:95114672 [GRCh38]
Chr9:97876954 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.714T>A (p.Ala238=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367533] Chr9:95135475 [GRCh38]
Chr9:97897757 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1105A>G (p.Lys369Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452891] Chr9:95114678 [GRCh38]
Chr9:97876960 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1153G>C (p.Gly385Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351059] Chr9:95114630 [GRCh38]
Chr9:97876912 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.980A>G (p.Glu327Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387248] Chr9:95125102 [GRCh38]
Chr9:97887384 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.287G>T (p.Cys96Phe) single nucleotide variant Fanconi anemia [RCV003775405]|Hereditary cancer-predisposing syndrome [RCV002437785]|not provided [RCV004719260] Chr9:95240707 [GRCh38]
Chr9:98002989 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.26C>A (p.Ser9Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437384] Chr9:95249266 [GRCh38]
Chr9:98011548 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.665C>T (p.Ala222Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366892] Chr9:95149944 [GRCh38]
Chr9:97912226 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1075A>G (p.Ile359Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419639] Chr9:95114708 [GRCh38]
Chr9:97876990 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.546C>A (p.Ser182=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349761] Chr9:95150063 [GRCh38]
Chr9:97912345 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.989G>C (p.Ser330Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387431] Chr9:95125093 [GRCh38]
Chr9:97887375 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.98A>T (p.Asp33Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387447] Chr9:95249194 [GRCh38]
Chr9:98011476 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.546C>T (p.Ser182=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349772] Chr9:95150063 [GRCh38]
Chr9:97912345 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.378A>T (p.Arg126Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351194] Chr9:95172115 [GRCh38]
Chr9:97934397 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.-79+24470T>G single nucleotide variant not provided [RCV002286911] Chr9:95293056 [GRCh38]
Chr9:98055338 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1228C>G (p.Gln410Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366958] Chr9:95111564 [GRCh38]
Chr9:97873846 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1188G>C (p.Leu396=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351258] Chr9:95111604 [GRCh38]
Chr9:97873886 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.113T>G (p.Val38Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451943] Chr9:95249179 [GRCh38]
Chr9:98011461 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1314G>A (p.Gln438=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385535] Chr9:95111478 [GRCh38]
Chr9:97873760 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.624A>T (p.Gly208=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366653] Chr9:95149985 [GRCh38]
Chr9:97912267 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.212T>A (p.Leu71Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301938] Chr9:95247470 [GRCh38]
Chr9:98009752 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.723C>T (p.Cys241=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301939] Chr9:95135466 [GRCh38]
Chr9:97897748 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.798A>C (p.Arg266Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301942] Chr9:95135391 [GRCh38]
Chr9:97897673 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.167A>C (p.Asp56Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301943] Chr9:95247515 [GRCh38]
Chr9:98009797 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.172A>G (p.Asn58Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414863] Chr9:95247510 [GRCh38]
Chr9:98009792 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1 copy number loss not provided [RCV002474678] Chr9:95711603..98469214 [GRCh37]
Chr9:9q22.31-22.32		 pathogenic
NM_000136.3(FANCC):c.1253C>G (p.Pro418Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416750] Chr9:95111539 [GRCh38]
Chr9:97873821 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1260G>T (p.Thr420=) single nucleotide variant Fanconi anemia [RCV002837853] Chr9:95111532 [GRCh38]
Chr9:97873814 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.355T>C (p.Ser119Pro) single nucleotide variant Fanconi anemia [RCV002303748]|Hereditary cancer-predisposing syndrome [RCV003365734] Chr9:95172138 [GRCh38]
Chr9:97934420 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1252C>G (p.Pro418Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412329] Chr9:95111540 [GRCh38]
Chr9:97873822 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.107T>C (p.Leu36Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417517] Chr9:95249185 [GRCh38]
Chr9:98011467 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.833A>G (p.Asp278Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412582] Chr9:95135356 [GRCh38]
Chr9:97897638 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.840G>C (p.Ser280=) single nucleotide variant Fanconi anemia [RCV003120976]|Hereditary cancer-predisposing syndrome [RCV002445864] Chr9:95135349 [GRCh38]
Chr9:97897631 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.841C>A (p.Leu281Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445878] Chr9:95135348 [GRCh38]
Chr9:97897630 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1215G>A (p.Glu405=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360046] Chr9:95111577 [GRCh38]
Chr9:97873859 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1578T>G (p.Leu526=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405747] Chr9:95101806 [GRCh38]
Chr9:97864088 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1432G>T (p.Asp478Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392099] Chr9:95107167 [GRCh38]
Chr9:97869449 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1343C>T (p.Ala448Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387757] Chr9:95107256 [GRCh38]
Chr9:97869538 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1100C>A (p.Thr367Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455624] Chr9:95114683 [GRCh38]
Chr9:97876965 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.960G>A (p.Gln320=) single nucleotide variant Fanconi anemia [RCV003103597]|Hereditary cancer-predisposing syndrome [RCV002374364] Chr9:95125122 [GRCh38]
Chr9:97887404 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1546G>A (p.Ala516Thr) single nucleotide variant Fanconi anemia [RCV003774379]|Hereditary cancer-predisposing syndrome [RCV002403269] Chr9:95101838 [GRCh38]
Chr9:97864120 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.897-3C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449916] Chr9:95125188 [GRCh38]
Chr9:97887470 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.881T>C (p.Val294Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164881]|Ovarian cancer [RCV003154760] Chr9:95126544 [GRCh38]
Chr9:97888826 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.400T>C (p.Phe134Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357848] Chr9:95172093 [GRCh38]
Chr9:97934375 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.921G>C (p.Gly307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371292] Chr9:95125161 [GRCh38]
Chr9:97887443 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.620A>G (p.His207Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353862] Chr9:95149989 [GRCh38]
Chr9:97912271 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1658A>T (p.Glu553Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403759] Chr9:95101726 [GRCh38]
Chr9:97864008 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.637G>A (p.Glu213Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354065] Chr9:95149972 [GRCh38]
Chr9:97912254 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.92A>G (p.Gln31Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371512] Chr9:95249200 [GRCh38]
Chr9:98011482 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.103T>A (p.Cys35Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389729] Chr9:95249189 [GRCh38]
Chr9:98011471 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter) single nucleotide variant Fanconi anemia [RCV003098258]|Hereditary cancer-predisposing syndrome [RCV002361942] Chr9:95149963 [GRCh38]
Chr9:97912245 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.683dup (p.Leu228fs) duplication Fanconi anemia complementation group C [RCV002308026] Chr9:95149925..95149926 [GRCh38]
Chr9:97912207..97912208 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1505A>G (p.His502Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389988]|not provided [RCV003121001] Chr9:95107094 [GRCh38]
Chr9:97869376 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.894C>G (p.Phe298Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376202] Chr9:95126531 [GRCh38]
Chr9:97888813 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1443T>C (p.Ala481=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394414] Chr9:95107156 [GRCh38]
Chr9:97869438 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.685C>G (p.Leu229Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362141] Chr9:95149924 [GRCh38]
Chr9:97912206 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.692A>T (p.Lys231Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362386] Chr9:95135497 [GRCh38]
Chr9:97897779 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.280T>G (p.Leu94Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441697] Chr9:95240714 [GRCh38]
Chr9:98002996 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1286A>T (p.Tyr429Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383190] Chr9:95111506 [GRCh38]
Chr9:97873788 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.870A>T (p.Ile290=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373435] Chr9:95126555 [GRCh38]
Chr9:97888837 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1608T>G (p.Leu536=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394799] Chr9:95101776 [GRCh38]
Chr9:97864058 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1586C>A (p.Thr529Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398316]|not provided [RCV004774682] Chr9:95101798 [GRCh38]
Chr9:97864080 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.795G>C (p.Glu265Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416900] Chr9:95135394 [GRCh38]
Chr9:97897676 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.320A>G (p.Gln107Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323037] Chr9:95240674 [GRCh38]
Chr9:98002956 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.199A>G (p.Ile67Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417061] Chr9:95247483 [GRCh38]
Chr9:98009765 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1022T>G (p.Phe341Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373613]|not provided [RCV002508358] Chr9:95117365 [GRCh38]
Chr9:97879647 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.594C>G (p.Pro198=) single nucleotide variant Fanconi anemia [RCV003103251]|Hereditary cancer-predisposing syndrome [RCV002355964] Chr9:95150015 [GRCh38]
Chr9:97912297 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.923C>T (p.Ala308Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371347] Chr9:95125159 [GRCh38]
Chr9:97887441 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.606T>A (p.Ala202=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358374] Chr9:95150003 [GRCh38]
Chr9:97912285 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.59C>G (p.Ser20Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357944] Chr9:95249233 [GRCh38]
Chr9:98011515 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.406C>G (p.Gln136Glu) single nucleotide variant Fanconi anemia [RCV003523129]|Hereditary cancer-predisposing syndrome [RCV002321450]|not provided [RCV004591893] Chr9:95172087 [GRCh38]
Chr9:97934369 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.327A>T (p.Lys109Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325052]|not specified [RCV003151403] Chr9:95240667 [GRCh38]
Chr9:98002949 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1535T>C (p.Met512Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403037] Chr9:95101849 [GRCh38]
Chr9:97864131 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter) single nucleotide variant Fanconi anemia complementation group C [RCV002309778] Chr9:95247433 [GRCh38]
Chr9:98009715 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.615C>A (p.Ile205=) single nucleotide variant Fanconi anemia [RCV003635986]|Hereditary cancer-predisposing syndrome [RCV002353630] Chr9:95149994 [GRCh38]
Chr9:97912276 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1422C>T (p.Gly474=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391847] Chr9:95107177 [GRCh38]
Chr9:97869459 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.328C>T (p.Leu110Phe) single nucleotide variant Fanconi anemia [RCV003099366]|Hereditary cancer-predisposing syndrome [RCV002445818] Chr9:95240666 [GRCh38]
Chr9:98002948 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.848A>G (p.Gln283Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447656] Chr9:95126577 [GRCh38]
Chr9:97888859 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1474C>G (p.Leu492Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397010] Chr9:95107125 [GRCh38]
Chr9:97869407 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1442C>T (p.Ala481Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394385] Chr9:95107157 [GRCh38]
Chr9:97869439 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.684G>T (p.Leu228Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362111] Chr9:95149925 [GRCh38]
Chr9:97912207 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.686T>C (p.Leu229Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362190] Chr9:95149923 [GRCh38]
Chr9:97912205 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.478G>C (p.Glu160Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330709] Chr9:95171122 [GRCh38]
Chr9:97933404 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.270A>G (p.Leu90=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429067] Chr9:95240724 [GRCh38]
Chr9:98003006 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.849A>C (p.Gln283His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447678] Chr9:95126576 [GRCh38]
Chr9:97888858 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.125A>G (p.Gln42Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430198] Chr9:95249167 [GRCh38]
Chr9:98011449 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1378A>G (p.Ser460Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381087] Chr9:95107221 [GRCh38]
Chr9:97869503 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.819A>G (p.Glu273=) single nucleotide variant Fanconi anemia [RCV003635990]|Hereditary cancer-predisposing syndrome [RCV002427865] Chr9:95135370 [GRCh38]
Chr9:97897652 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.6T>A (p.Ala2=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378239] Chr9:95249286 [GRCh38]
Chr9:98011568 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.152C>A (p.Ala51Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400843]|not provided [RCV003235719] Chr9:95249140 [GRCh38]
Chr9:98011422 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.99C>T (p.Asp33=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383104] Chr9:95249193 [GRCh38]
Chr9:98011475 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.142A>G (p.Met48Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392020] Chr9:95249150 [GRCh38]
Chr9:98011432 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.209T>G (p.Leu70Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424182] Chr9:95247473 [GRCh38]
Chr9:98009755 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.715G>A (p.Val239Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378350]|not provided [RCV003476976] Chr9:95135474 [GRCh38]
Chr9:97897756 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.309G>A (p.Gln103=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325910] Chr9:95240685 [GRCh38]
Chr9:98002967 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1092G>C (p.Trp364Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448216] Chr9:95114691 [GRCh38]
Chr9:97876973 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1286A>G (p.Tyr429Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383185] Chr9:95111506 [GRCh38]
Chr9:97873788 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.292A>G (p.Ile98Val) single nucleotide variant Fanconi anemia [RCV002295981] Chr9:95240702 [GRCh38]
Chr9:98002984 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.439C>T (p.Pro147Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333700] Chr9:95172054 [GRCh38]
Chr9:97934336 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1620C>T (p.Ser540=) single nucleotide variant Fanconi anemia [RCV003774415]|Hereditary cancer-predisposing syndrome [RCV002401061] Chr9:95101764 [GRCh38]
Chr9:97864046 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1538C>T (p.Ala513Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403078] Chr9:95101846 [GRCh38]
Chr9:97864128 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1186C>T (p.Leu396=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330794] Chr9:95111606 [GRCh38]
Chr9:97873888 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.930A>C (p.Glu310Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371555] Chr9:95125152 [GRCh38]
Chr9:97887434 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1584G>A (p.Gln528=) single nucleotide variant Fanconi anemia [RCV005097612]|Hereditary cancer-predisposing syndrome [RCV002398290] Chr9:95101800 [GRCh38]
Chr9:97864082 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.67G>T (p.Asp23Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369487] Chr9:95249225 [GRCh38]
Chr9:98011507 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1497T>C (p.Pro499=) single nucleotide variant Fanconi anemia [RCV003100689]|Hereditary cancer-predisposing syndrome [RCV002389826] Chr9:95107102 [GRCh38]
Chr9:97869384 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.396T>C (p.Ala132=) single nucleotide variant Fanconi anemia [RCV003094466]|Hereditary cancer-predisposing syndrome [RCV002321128] Chr9:95172097 [GRCh38]
Chr9:97934379 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1462A>G (p.Arg488Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396754] Chr9:95107137 [GRCh38]
Chr9:97869419 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1367T>C (p.Met456Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383615] Chr9:95107232 [GRCh38]
Chr9:97869514 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1500A>G (p.Gly500=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389919] Chr9:95107099 [GRCh38]
Chr9:97869381 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1506C>T (p.His502=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390005] Chr9:95107093 [GRCh38]
Chr9:97869375 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1452A>G (p.Gln484=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394628] Chr9:95107147 [GRCh38]
Chr9:97869429 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.638A>G (p.Glu213Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354088] Chr9:95149971 [GRCh38]
Chr9:97912253 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.592C>A (p.Pro198Thr) single nucleotide variant Fanconi anemia [RCV003103247]|Hereditary cancer-predisposing syndrome [RCV002355845] Chr9:95150017 [GRCh38]
Chr9:97912299 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1465C>T (p.His489Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396812] Chr9:95107134 [GRCh38]
Chr9:97869416 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1652T>A (p.Leu551His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403680] Chr9:95101732 [GRCh38]
Chr9:97864014 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.22C>G (p.Leu8Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457549] Chr9:95249270 [GRCh38]
Chr9:98011552 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1554A>G (p.Ile518Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392599] Chr9:95101830 [GRCh38]
Chr9:97864112 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1238T>C (p.Met413Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378374] Chr9:95111554 [GRCh38]
Chr9:97873836 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.517dup (p.Arg173fs) duplication Hereditary cancer-predisposing syndrome [RCV002338438] Chr9:95171082..95171083 [GRCh38]
Chr9:97933364..97933365 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.598G>A (p.Val200Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357878] Chr9:95150011 [GRCh38]
Chr9:97912293 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1643G>T (p.Arg548Leu) single nucleotide variant Fanconi anemia [RCV003100767]|Hereditary cancer-predisposing syndrome [RCV002394944] Chr9:95101741 [GRCh38]
Chr9:97864023 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln) single nucleotide variant Fanconi anemia complementation group C [RCV003230294]|Hereditary cancer-predisposing syndrome [RCV002394974] Chr9:95101739 [GRCh38]
Chr9:97864021 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1654A>G (p.Lys552Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403704] Chr9:95101730 [GRCh38]
Chr9:97864012 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1352G>A (p.Gly451Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387979] Chr9:95107247 [GRCh38]
Chr9:97869529 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1078C>G (p.Pro360Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422178] Chr9:95114705 [GRCh38]
Chr9:97876987 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.388G>A (p.Glu130Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357394] Chr9:95172105 [GRCh38]
Chr9:97934387 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.163A>G (p.Met55Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403519] Chr9:95249129 [GRCh38]
Chr9:98011411 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter) single nucleotide variant Fanconi anemia complementation group C [RCV002306898] Chr9:95247457 [GRCh38]
Chr9:98009739 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1419G>A (p.Gln473=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391765] Chr9:95107180 [GRCh38]
Chr9:97869462 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1565T>C (p.Ile522Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405512] Chr9:95101819 [GRCh38]
Chr9:97864101 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1566C>G (p.Ile522Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405524] Chr9:95101818 [GRCh38]
Chr9:97864100 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1566C>T (p.Ile522=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405529] Chr9:95101818 [GRCh38]
Chr9:97864100 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.423A>C (p.Ala141=) single nucleotide variant Fanconi anemia [RCV003635985]|Hereditary cancer-predisposing syndrome [RCV002328170] Chr9:95172070 [GRCh38]
Chr9:97934352 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.253G>A (p.Glu85Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455773] Chr9:95240741 [GRCh38]
Chr9:98003023 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.372A>G (p.Ala124=) single nucleotide variant Fanconi anemia [RCV003523127]|Hereditary cancer-predisposing syndrome [RCV002353045] Chr9:95172121 [GRCh38]
Chr9:97934403 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.274T>C (p.Trp92Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439362] Chr9:95240720 [GRCh38]
Chr9:98003002 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.752A>G (p.Glu251Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393860] Chr9:95135437 [GRCh38]
Chr9:97897719 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1670A>G (p.Gln557Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395122] Chr9:95101714 [GRCh38]
Chr9:97863996 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.521+1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340782] Chr9:95171078 [GRCh38]
Chr9:97933360 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.522-3T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340816] Chr9:95150090 [GRCh38]
Chr9:97912372 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.90C>T (p.Thr30=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378630] Chr9:95249202 [GRCh38]
Chr9:98011484 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.332A>G (p.Asn111Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326460] Chr9:95240662 [GRCh38]
Chr9:98002944 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1423A>C (p.Thr475Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391862]|not provided [RCV005001310] Chr9:95107176 [GRCh38]
Chr9:97869458 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1215G>T (p.Glu405Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360074] Chr9:95111577 [GRCh38]
Chr9:97873859 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.410G>T (p.Gly137Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323401] Chr9:95172083 [GRCh38]
Chr9:97934365 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.560del (p.Cys187fs) deletion Fanconi anemia complementation group C [RCV002307172] Chr9:95150049 [GRCh38]
Chr9:97912331 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.305C>T (p.Pro102Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444191]|not provided [RCV003443060] Chr9:95240689 [GRCh38]
Chr9:98002971 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1300G>C (p.Asp434His) single nucleotide variant Fanconi anemia [RCV003094936]|Hereditary cancer-predisposing syndrome [RCV002380842]|not provided [RCV003229917] Chr9:95111492 [GRCh38]
Chr9:97873774 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1471C>G (p.Leu491Val) single nucleotide variant Fanconi anemia [RCV003523133]|Hereditary cancer-predisposing syndrome [RCV002396938] Chr9:95107128 [GRCh38]
Chr9:97869410 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1192A>G (p.Ile398Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335875] Chr9:95111600 [GRCh38]
Chr9:97873882 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.191T>A (p.Phe64Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410680] Chr9:95247491 [GRCh38]
Chr9:98009773 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1120C>G (p.Leu374Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439888] Chr9:95114663 [GRCh38]
Chr9:97876945 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1408G>A (p.Val470Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389435] Chr9:95107191 [GRCh38]
Chr9:97869473 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.165+2_165+3insTT insertion Hereditary cancer-predisposing syndrome [RCV002403647]|not provided [RCV004697226] Chr9:95249124..95249125 [GRCh38]
Chr9:98011406..98011407 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.102C>T (p.Thr34=) single nucleotide variant Fanconi anemia [RCV005097466]|Hereditary cancer-predisposing syndrome [RCV002383358] Chr9:95249190 [GRCh38]
Chr9:98011472 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.457A>G (p.Met153Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342181]|not provided [RCV003476957] Chr9:95171143 [GRCh38]
Chr9:97933425 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.725T>C (p.Leu242Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382537] Chr9:95135464 [GRCh38]
Chr9:97897746 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.81T>A (p.Thr27=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427930] Chr9:95249211 [GRCh38]
Chr9:98011493 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.645C>T (p.Leu215=) single nucleotide variant Fanconi anemia [RCV003635987]|Hereditary cancer-predisposing syndrome [RCV002361885] Chr9:95149964 [GRCh38]
Chr9:97912246 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.921G>T (p.Gly307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371293] Chr9:95125161 [GRCh38]
Chr9:97887443 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1126A>G (p.Arg376Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443966] Chr9:95114657 [GRCh38]
Chr9:97876939 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1359C>T (p.Leu453=) single nucleotide variant Fanconi anemia [RCV003095026]|Hereditary cancer-predisposing syndrome [RCV002383420] Chr9:95107240 [GRCh38]
Chr9:97869522 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.569T>G (p.Leu190Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347539] Chr9:95150040 [GRCh38]
Chr9:97912322 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.888G>T (p.Glu296Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376003] Chr9:95126537 [GRCh38]
Chr9:97888819 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.341_342del (p.Ile114fs) deletion Hereditary cancer-predisposing syndrome [RCV002332991] Chr9:95240652..95240653 [GRCh38]
Chr9:98002934..98002935 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.88A>T (p.Thr30Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376044] Chr9:95249204 [GRCh38]
Chr9:98011486 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.856T>G (p.Cys286Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447886] Chr9:95126569 [GRCh38]
Chr9:97888851 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.345+3A>G single nucleotide variant Fanconi anemia [RCV003099494]|Hereditary cancer-predisposing syndrome [RCV002457202] Chr9:95240646 [GRCh38]
Chr9:98002928 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1497T>G (p.Pro499=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389830] Chr9:95107102 [GRCh38]
Chr9:97869384 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.316G>A (p.Gly106Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322619] Chr9:95240678 [GRCh38]
Chr9:98002960 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.689A>G (p.Lys230Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362297] Chr9:95135500 [GRCh38]
Chr9:97897782 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1166G>T (p.Gly389Val) single nucleotide variant Fanconi anemia [RCV005096496]|Hereditary cancer-predisposing syndrome [RCV002333311] Chr9:95111626 [GRCh38]
Chr9:97873908 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1088A>C (p.His363Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428257] Chr9:95114695 [GRCh38]
Chr9:97876977 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.859C>T (p.His287Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447954] Chr9:95126566 [GRCh38]
Chr9:97888848 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.931A>G (p.Ile311Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371600] Chr9:95125151 [GRCh38]
Chr9:97887433 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.759A>G (p.Ala253=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394184] Chr9:95135430 [GRCh38]
Chr9:97897712 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.418T>A (p.Tyr140Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327775] Chr9:95172075 [GRCh38]
Chr9:97934357 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.935T>C (p.Ile312Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450095] Chr9:95125147 [GRCh38]
Chr9:97887429 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.460G>C (p.Val154Leu) single nucleotide variant Fanconi anemia [RCV003102607]|Hereditary cancer-predisposing syndrome [RCV002342449] Chr9:95171140 [GRCh38]
Chr9:97933422 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1173dup (p.Glu392Ter) duplication Hereditary cancer-predisposing syndrome [RCV002333607] Chr9:95111618..95111619 [GRCh38]
Chr9:97873900..97873901 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1173T>C (p.Phe391=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333645] Chr9:95111619 [GRCh38]
Chr9:97873901 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.786C>T (p.Ile262=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412263] Chr9:95135403 [GRCh38]
Chr9:97897685 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.900T>C (p.Cys300=) single nucleotide variant Fanconi anemia [RCV003100079]|Hereditary cancer-predisposing syndrome [RCV002376397] Chr9:95125182 [GRCh38]
Chr9:97887464 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.962G>A (p.Cys321Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376475] Chr9:95125120 [GRCh38]
Chr9:97887402 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1613T>C (p.Ile538Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400940] Chr9:95101771 [GRCh38]
Chr9:97864053 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.75T>G (p.Ala25=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394256] Chr9:95249217 [GRCh38]
Chr9:98011499 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.169T>C (p.Ser57Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406294] Chr9:95247513 [GRCh38]
Chr9:98009795 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.425C>T (p.Pro142Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329931] Chr9:95172068 [GRCh38]
Chr9:97934350 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1252C>A (p.Pro418Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412305] Chr9:95111540 [GRCh38]
Chr9:97873822 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.96A>G (p.Gln32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376631] Chr9:95249196 [GRCh38]
Chr9:98011478 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.233C>T (p.Pro78Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448268] Chr9:95247449 [GRCh38]
Chr9:98009731 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.526G>T (p.Ala176Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344397] Chr9:95150083 [GRCh38]
Chr9:97912365 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.115G>A (p.Ala39Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373300] Chr9:95249177 [GRCh38]
Chr9:98011459 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1614T>C (p.Ile538=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394855] Chr9:95101770 [GRCh38]
Chr9:97864052 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1259C>A (p.Thr420Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412511] Chr9:95111533 [GRCh38]
Chr9:97873815 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.521G>T (p.Arg174Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340807] Chr9:95171079 [GRCh38]
Chr9:97933361 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.522A>G (p.Arg174=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340830] Chr9:95150087 [GRCh38]
Chr9:97912369 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1197C>T (p.His399=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340900] Chr9:95111595 [GRCh38]
Chr9:97873877 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.463T>G (p.Leu155Val) single nucleotide variant Fanconi anemia [RCV005058383]|Hereditary cancer-predisposing syndrome [RCV002342604] Chr9:95171137 [GRCh38]
Chr9:97933419 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.529C>T (p.Pro177Ser) single nucleotide variant Fanconi anemia [RCV003523131]|Hereditary cancer-predisposing syndrome [RCV002344561] Chr9:95150080 [GRCh38]
Chr9:97912362 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.55C>G (p.Leu19Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344879] Chr9:95249237 [GRCh38]
Chr9:98011519 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1594A>G (p.Arg532Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398499] Chr9:95101790 [GRCh38]
Chr9:97864072 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.394G>A (p.Ala132Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373323] Chr9:95172099 [GRCh38]
Chr9:97934381 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.593C>T (p.Pro198Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355917] Chr9:95150016 [GRCh38]
Chr9:97912298 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.434A>G (p.Tyr145Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332247] Chr9:95172059 [GRCh38]
Chr9:97934341 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1424C>A (p.Thr475Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391889] Chr9:95107175 [GRCh38]
Chr9:97869457 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1268T>A (p.Leu423Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373669] Chr9:95111524 [GRCh38]
Chr9:97873806 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.878T>A (p.Val293Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373670] Chr9:95126547 [GRCh38]
Chr9:97888829 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1295C>A (p.Pro432His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380626] Chr9:95111497 [GRCh38]
Chr9:97873779 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1640C>G (p.Ala547Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394925] Chr9:95101744 [GRCh38]
Chr9:97864026 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.704C>G (p.Pro235Arg) single nucleotide variant Fanconi anemia [RCV003103358]|Hereditary cancer-predisposing syndrome [RCV002364969] Chr9:95135485 [GRCh38]
Chr9:97897767 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.494A>G (p.His165Arg) single nucleotide variant Fanconi anemia [RCV003096538]|Hereditary cancer-predisposing syndrome [RCV002342712] Chr9:95171106 [GRCh38]
Chr9:97933388 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.535C>A (p.Arg179=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347011] Chr9:95150074 [GRCh38]
Chr9:97912356 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.854C>G (p.Ala285Gly) single nucleotide variant Fanconi anemia [RCV002303197] Chr9:95126571 [GRCh38]
Chr9:97888853 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.843+5G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445915] Chr9:95135341 [GRCh38]
Chr9:97897623 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1189T>C (p.Phe397Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342779] Chr9:95111603 [GRCh38]
Chr9:97873885 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1308G>A (p.Arg436=) single nucleotide variant Fanconi anemia [RCV003108069]|Hereditary cancer-predisposing syndrome [RCV002381012] Chr9:95111484 [GRCh38]
Chr9:97873766 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.868A>G (p.Ile290Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449700] Chr9:95126557 [GRCh38]
Chr9:97888839 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.167A>G (p.Asp56Gly) single nucleotide variant Fanconi anemia complementation group C [RCV005042826]|Hereditary cancer-predisposing syndrome [RCV002414526]|not provided [RCV004774684] Chr9:95247515 [GRCh38]
Chr9:98009797 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1269G>A (p.Leu423=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373821] Chr9:95111523 [GRCh38]
Chr9:97873805 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.409G>A (p.Gly137Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323304] Chr9:95172084 [GRCh38]
Chr9:97934366 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1025C>A (p.Pro342His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380726] Chr9:95117362 [GRCh38]
Chr9:97879644 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1025C>T (p.Pro342Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380756] Chr9:95117362 [GRCh38]
Chr9:97879644 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.767A>C (p.His256Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400470] Chr9:95135422 [GRCh38]
Chr9:97897704 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter) single nucleotide variant Fanconi anemia complementation group C [RCV002309751] Chr9:95117358 [GRCh38]
Chr9:97879640 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs) insertion Fanconi anemia complementation group C [RCV002309986] Chr9:95240678..95240679 [GRCh38]
Chr9:98002960..98002961 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1043T>G (p.Leu348Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403155] Chr9:95117344 [GRCh38]
Chr9:97879626 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.763C>T (p.Leu255=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396347] Chr9:95135426 [GRCh38]
Chr9:97897708 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1534A>G (p.Met512Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403014] Chr9:95101850 [GRCh38]
Chr9:97864132 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1524C>G (p.Val508=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392493] Chr9:95107075 [GRCh38]
Chr9:97869357 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter) single nucleotide variant Fanconi anemia complementation group C [RCV002306615] Chr9:95135367 [GRCh38]
Chr9:97897649 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.682T>C (p.Leu228=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369647] Chr9:95149927 [GRCh38]
Chr9:97912209 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.282_283del (p.Cys95fs) deletion Fanconi anemia complementation group C [RCV002308334] Chr9:95240711..95240712 [GRCh38]
Chr9:98002993..98002994 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.-4C>T single nucleotide variant Fanconi anemia [RCV005058398]|Hereditary cancer-predisposing syndrome [RCV002343046] Chr9:95249295 [GRCh38]
Chr9:98011577 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.417G>A (p.Gly139=) single nucleotide variant Fanconi anemia [RCV003094564]|Hereditary cancer-predisposing syndrome [RCV002327697] Chr9:95172076 [GRCh38]
Chr9:97934358 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.389A>T (p.Glu130Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357444] Chr9:95172104 [GRCh38]
Chr9:97934386 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1548T>A (p.Ala516=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403301] Chr9:95101836 [GRCh38]
Chr9:97864118 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1250A>G (p.Glu417Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409788] Chr9:95111542 [GRCh38]
Chr9:97873824 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1391C>T (p.Ala464Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396695] Chr9:95107208 [GRCh38]
Chr9:97869490 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.419A>G (p.Tyr140Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327820] Chr9:95172074 [GRCh38]
Chr9:97934356 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.254A>G (p.Glu85Gly) single nucleotide variant Fanconi anemia [RCV003101956]|Hereditary cancer-predisposing syndrome [RCV002433289] Chr9:95240740 [GRCh38]
Chr9:98003022 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.100A>C (p.Thr34Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439518] Chr9:95249192 [GRCh38]
Chr9:98011474 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.719T>C (p.Val240Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370825] Chr9:95135470 [GRCh38]
Chr9:97897752 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1031C>T (p.Thr344Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381142] Chr9:95117356 [GRCh38]
Chr9:97879638 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.174T>C (p.Asn58=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407507] Chr9:95247508 [GRCh38]
Chr9:98009790 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.854C>T (p.Ala285Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414463] Chr9:95126571 [GRCh38]
Chr9:97888853 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1656A>G (p.Lys552=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403729] Chr9:95101728 [GRCh38]
Chr9:97864010 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.697T>A (p.Ser233Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364644] Chr9:95135492 [GRCh38]
Chr9:97897774 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.722G>A (p.Cys241Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371003] Chr9:95135467 [GRCh38]
Chr9:97897749 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.586G>T (p.Val196Phe) single nucleotide variant Fanconi anemia complementation group C [RCV005042814]|Hereditary cancer-predisposing syndrome [RCV002353453] Chr9:95150023 [GRCh38]
Chr9:97912305 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.-19C>T single nucleotide variant Fanconi anemia [RCV003074474] Chr9:95249310 [GRCh38]
Chr9:98011592 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1057C>T (p.Leu353=) single nucleotide variant Fanconi anemia [RCV002751605] Chr9:95117330 [GRCh38]
Chr9:97879612 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1456C>A (p.Leu486Met) single nucleotide variant Fanconi anemia [RCV002838002]|Hereditary cancer-predisposing syndrome [RCV003167814] Chr9:95107143 [GRCh38]
Chr9:97869425 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.759A>T (p.Ala253=) single nucleotide variant Fanconi anemia [RCV002838110] Chr9:95135430 [GRCh38]
Chr9:97897712 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.457-4A>G single nucleotide variant Fanconi anemia [RCV003635992]|not provided [RCV002481136] Chr9:95171147 [GRCh38]
Chr9:97933429 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1533+12del deletion Fanconi anemia [RCV002841993] Chr9:95107054 [GRCh38]
Chr9:97869336 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1072+5G>A single nucleotide variant Fanconi anemia [RCV003075900] Chr9:95117310 [GRCh38]
Chr9:97879592 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1106del (p.Lys369fs) deletion Fanconi anemia [RCV003014288] Chr9:95114677 [GRCh38]
Chr9:97876959 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1329+15C>T single nucleotide variant Fanconi anemia [RCV002947766] Chr9:95111448 [GRCh38]
Chr9:97873730 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.277T>C (p.Cys93Arg) single nucleotide variant not provided [RCV002462795] Chr9:95240717 [GRCh38]
Chr9:98002999 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1389A>G (p.Ser463=) single nucleotide variant Fanconi anemia [RCV003076826] Chr9:95107210 [GRCh38]
Chr9:97869492 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1668T>C (p.Thr556=) single nucleotide variant Fanconi anemia [RCV003034400] Chr9:95101716 [GRCh38]
Chr9:97863998 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.457-15G>A single nucleotide variant Fanconi anemia [RCV002740528] Chr9:95171158 [GRCh38]
Chr9:97933440 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-19_687-16del deletion Fanconi anemia [RCV002800528] Chr9:95135518..95135521 [GRCh38]
Chr9:97897800..97897803 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1377C>T (p.Ser459=) single nucleotide variant Fanconi anemia [RCV002785492] Chr9:95107222 [GRCh38]
Chr9:97869504 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.30T>C (p.Cys10=) single nucleotide variant Fanconi anemia [RCV002571656]|Hereditary cancer-predisposing syndrome [RCV004064302] Chr9:95249262 [GRCh38]
Chr9:98011544 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.165+14C>T single nucleotide variant Fanconi anemia [RCV002998983] Chr9:95249113 [GRCh38]
Chr9:98011395 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.911A>C (p.Glu304Ala) single nucleotide variant Fanconi anemia [RCV003037616] Chr9:95125171 [GRCh38]
Chr9:97887453 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.773T>C (p.Phe258Ser) single nucleotide variant Fanconi anemia [RCV002796480] Chr9:95135416 [GRCh38]
Chr9:97897698 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1275C>T (p.Leu425=) single nucleotide variant Fanconi anemia [RCV002910048] Chr9:95111517 [GRCh38]
Chr9:97873799 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1072+2T>A single nucleotide variant Fanconi anemia [RCV002636417]|Fanconi anemia complementation group C [RCV004571198] Chr9:95117313 [GRCh38]
Chr9:97879595 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1437C>G (p.Leu479=) single nucleotide variant Fanconi anemia [RCV003036723]|Hereditary cancer-predisposing syndrome [RCV004948939] Chr9:95107162 [GRCh38]
Chr9:97869444 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1520A>T (p.Asp507Val) single nucleotide variant Fanconi anemia [RCV002797016] Chr9:95107079 [GRCh38]
Chr9:97869361 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.251-5del deletion Fanconi anemia [RCV002866386] Chr9:95240748 [GRCh38]
Chr9:98003030 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.1243G>A (p.Ala415Thr) single nucleotide variant Fanconi anemia [RCV002570160]|Hereditary cancer-predisposing syndrome [RCV003164778] Chr9:95111549 [GRCh38]
Chr9:97873831 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.880G>A (p.Val294Ile) single nucleotide variant Fanconi anemia [RCV003078231]|Hereditary cancer-predisposing syndrome [RCV003340622]|not provided [RCV003477046] Chr9:95126545 [GRCh38]
Chr9:97888827 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.49_56del (p.Gln17fs) deletion Fanconi anemia [RCV002847200] Chr9:95249236..95249243 [GRCh38]
Chr9:98011518..98011525 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.521+11A>C single nucleotide variant Fanconi anemia [RCV002866896] Chr9:95171068 [GRCh38]
Chr9:97933350 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.498T>A (p.Leu166=) single nucleotide variant Fanconi anemia [RCV003018005] Chr9:95171102 [GRCh38]
Chr9:97933384 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.812G>C (p.Arg271Thr) single nucleotide variant Fanconi anemia [RCV002844021]|Hereditary cancer-predisposing syndrome [RCV004617101] Chr9:95135377 [GRCh38]
Chr9:97897659 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.798A>G (p.Arg266=) single nucleotide variant Fanconi anemia [RCV002885327] Chr9:95135391 [GRCh38]
Chr9:97897673 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter) single nucleotide variant Fanconi anemia [RCV002867046]|Hereditary cancer-predisposing syndrome [RCV003308311] Chr9:95117327 [GRCh38]
Chr9:97879609 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1235T>C (p.Leu412Pro) single nucleotide variant Fanconi anemia [RCV003054297] Chr9:95111557 [GRCh38]
Chr9:97873839 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.439C>G (p.Pro147Ala) single nucleotide variant Fanconi anemia [RCV002953128]|Fanconi anemia complementation group C [RCV005045089]|Hereditary cancer-predisposing syndrome [RCV004617122] Chr9:95172054 [GRCh38]
Chr9:97934336 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.540_557del (p.Ala181_Val186del) deletion Fanconi anemia [RCV002846910] Chr9:95150052..95150069 [GRCh38]
Chr9:97912334..97912351 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.521+7G>A single nucleotide variant Fanconi anemia [RCV002705300] Chr9:95171072 [GRCh38]
Chr9:97933354 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.586G>A (p.Val196Ile) single nucleotide variant Fanconi anemia [RCV002620650] Chr9:95150023 [GRCh38]
Chr9:97912305 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.956C>A (p.Thr319Lys) single nucleotide variant Fanconi anemia [RCV002761660] Chr9:95125126 [GRCh38]
Chr9:97887408 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.897-7dup duplication Fanconi anemia [RCV002847703] Chr9:95125191..95125192 [GRCh38]
Chr9:97887473..97887474 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1655_1658dup (p.Leu554fs) duplication Fanconi anemia [RCV002658946] Chr9:95101725..95101726 [GRCh38]
Chr9:97864007..97864008 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter) single nucleotide variant Fanconi anemia [RCV003037328]|Fanconi anemia complementation group C [RCV003465918] Chr9:95240718 [GRCh38]
Chr9:98003000 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1534-15C>T single nucleotide variant Fanconi anemia [RCV002876164] Chr9:95101865 [GRCh38]
Chr9:97864147 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.522-7del deletion Fanconi anemia [RCV002894997] Chr9:95150094 [GRCh38]
Chr9:97912376 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.844-7T>C single nucleotide variant Fanconi anemia [RCV003059745] Chr9:95126588 [GRCh38]
Chr9:97888870 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-79+1del deletion Fanconi anemia [RCV003008238] Chr9:95317525 [GRCh38]
Chr9:98079807 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.837A>G (p.Ser279=) single nucleotide variant Fanconi anemia [RCV002830127] Chr9:95135352 [GRCh38]
Chr9:97897634 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1628C>T (p.Ser543Leu) single nucleotide variant Fanconi anemia [RCV003008316]|Hereditary cancer-predisposing syndrome [RCV003274140] Chr9:95101756 [GRCh38]
Chr9:97864038 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1009C>G (p.Leu337Val) single nucleotide variant Fanconi anemia [RCV003083123]|Hereditary cancer-predisposing syndrome [RCV004948996] Chr9:95117378 [GRCh38]
Chr9:97879660 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.935_936del (p.Ile312fs) deletion Fanconi anemia [RCV002595730]|Fanconi anemia complementation group C [RCV005045324] Chr9:95125146..95125147 [GRCh38]
Chr9:97887428..97887429 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.896+10A>C single nucleotide variant Fanconi anemia [RCV002851769] Chr9:95126519 [GRCh38]
Chr9:97888801 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1351_1352del (p.Gly451fs) deletion Fanconi anemia [RCV003023315] Chr9:95107247..95107248 [GRCh38]
Chr9:97869529..97869530 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1126A>C (p.Arg376=) single nucleotide variant Fanconi anemia [RCV003057783] Chr9:95114657 [GRCh38]
Chr9:97876939 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.576C>G (p.Thr192=) single nucleotide variant Fanconi anemia [RCV002643399]|Hereditary cancer-predisposing syndrome [RCV004066757] Chr9:95150033 [GRCh38]
Chr9:97912315 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.532G>T (p.Glu178Ter) single nucleotide variant Fanconi anemia [RCV002982364] Chr9:95150077 [GRCh38]
Chr9:97912359 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.733C>G (p.Arg245Gly) single nucleotide variant Fanconi anemia [RCV002666814]|Hereditary cancer-predisposing syndrome [RCV004948735] Chr9:95135456 [GRCh38]
Chr9:97897738 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.687-11C>A single nucleotide variant Fanconi anemia [RCV002932055] Chr9:95135513 [GRCh38]
Chr9:97897795 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.346-12T>A single nucleotide variant Fanconi anemia [RCV003005307] Chr9:95172159 [GRCh38]
Chr9:97934441 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.141G>T (p.Lys47Asn) single nucleotide variant Fanconi anemia [RCV002890746] Chr9:95249151 [GRCh38]
Chr9:98011433 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.456+6T>C single nucleotide variant Fanconi anemia [RCV002594251] Chr9:95172031 [GRCh38]
Chr9:97934313 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.844-9C>G single nucleotide variant Fanconi anemia [RCV002828315] Chr9:95126590 [GRCh38]
Chr9:97888872 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1608T>C (p.Leu536=) single nucleotide variant Fanconi anemia [RCV002625618]|Hereditary cancer-predisposing syndrome [RCV003357954] Chr9:95101776 [GRCh38]
Chr9:97864058 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.294_297del (p.Asn99fs) deletion Fanconi anemia [RCV002594170]|Fanconi anemia complementation group C [RCV005050605] Chr9:95240697..95240700 [GRCh38]
Chr9:98002979..98002982 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.522-9C>G single nucleotide variant Fanconi anemia [RCV002710419] Chr9:95150096 [GRCh38]
Chr9:97912378 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1008A>C (p.Ala336=) single nucleotide variant Fanconi anemia [RCV002932774] Chr9:95117379 [GRCh38]
Chr9:97879661 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.843+19_843+20insTTTT insertion Fanconi anemia [RCV002624943] Chr9:95135326..95135327 [GRCh38]
Chr9:97897608..97897609 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1104G>T (p.Leu368=) single nucleotide variant Fanconi anemia [RCV002939013] Chr9:95114679 [GRCh38]
Chr9:97876961 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1191C>T (p.Phe397=) single nucleotide variant Fanconi anemia [RCV002630151]|Hereditary cancer-predisposing syndrome [RCV004948722] Chr9:95111601 [GRCh38]
Chr9:97873883 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.135A>G (p.Leu45=) single nucleotide variant Fanconi anemia [RCV003047528] Chr9:95249157 [GRCh38]
Chr9:98011439 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.511A>C (p.Thr171Pro) single nucleotide variant Fanconi anemia [RCV003065285]|Hereditary cancer-predisposing syndrome [RCV003294435] Chr9:95171089 [GRCh38]
Chr9:97933371 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.177A>T (p.Thr59=) single nucleotide variant Fanconi anemia [RCV002577121] Chr9:95247505 [GRCh38]
Chr9:98009787 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1330-2A>G single nucleotide variant Fanconi anemia [RCV002857090] Chr9:95107271 [GRCh38]
Chr9:97869553 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.687-6dup duplication Fanconi anemia [RCV003027008] Chr9:95135507..95135508 [GRCh38]
Chr9:97897789..97897790 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1631A>G (p.Glu544Gly) single nucleotide variant Fanconi anemia [RCV002810095] Chr9:95101753 [GRCh38]
Chr9:97864035 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.21T>A (p.Asp7Glu) single nucleotide variant Fanconi anemia [RCV003062709] Chr9:95249271 [GRCh38]
Chr9:98011553 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1073-15T>G single nucleotide variant Fanconi anemia [RCV002579434] Chr9:95114725 [GRCh38]
Chr9:97877007 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.915C>G (p.Thr305=) single nucleotide variant Fanconi anemia [RCV002899082] Chr9:95125167 [GRCh38]
Chr9:97887449 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-59T>C single nucleotide variant Fanconi anemia [RCV003046132] Chr9:95249350 [GRCh38]
Chr9:98011632 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1610G>T (p.Gly537Val) single nucleotide variant Fanconi anemia [RCV002770267] Chr9:95101774 [GRCh38]
Chr9:97864056 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.375C>G (p.Leu125=) single nucleotide variant Fanconi anemia [RCV003045131] Chr9:95172118 [GRCh38]
Chr9:97934400 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1154+9A>G single nucleotide variant Fanconi anemia [RCV003027395] Chr9:95114620 [GRCh38]
Chr9:97876902 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-7G>A single nucleotide variant Fanconi anemia [RCV002631617] Chr9:95111644 [GRCh38]
Chr9:97873926 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.648G>A (p.Gln216=) single nucleotide variant Fanconi anemia [RCV003047181]|Hereditary cancer-predisposing syndrome [RCV003170927] Chr9:95149961 [GRCh38]
Chr9:97912243 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1134A>T (p.Ala378=) single nucleotide variant Fanconi anemia [RCV002579986]|Hereditary cancer-predisposing syndrome [RCV004064435] Chr9:95114649 [GRCh38]
Chr9:97876931 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.897G>C (p.Arg299Ser) single nucleotide variant Fanconi anemia [RCV003030587] Chr9:95125185 [GRCh38]
Chr9:97887467 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.169T>G (p.Ser57Ala) single nucleotide variant Fanconi anemia [RCV002598343]|Hereditary cancer-predisposing syndrome [RCV004617055] Chr9:95247513 [GRCh38]
Chr9:98009795 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1602T>C (p.Asn534=) single nucleotide variant Fanconi anemia [RCV003066231] Chr9:95101782 [GRCh38]
Chr9:97864064 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.521+12A>G single nucleotide variant Fanconi anemia [RCV002634180] Chr9:95171067 [GRCh38]
Chr9:97933349 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.522-16_522-14del deletion Fanconi anemia [RCV003051117] Chr9:95150101..95150103 [GRCh38]
Chr9:97912383..97912385 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.997-64_997-16dup duplication Fanconi anemia [RCV003070363] Chr9:95117405..95117406 [GRCh38]
Chr9:97879687..97879688 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.273A>G (p.Ile91Met) single nucleotide variant Fanconi anemia [RCV002588020] Chr9:95240721 [GRCh38]
Chr9:98003003 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1200dup (p.Gly401fs) duplication Fanconi anemia [RCV002608981]|Fanconi anemia complementation group C [RCV003465797]|Hereditary cancer-predisposing syndrome [RCV004065763] Chr9:95111591..95111592 [GRCh38]
Chr9:97873873..97873874 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1148C>T (p.Thr383Ile) single nucleotide variant Fanconi anemia [RCV002612036] Chr9:95114635 [GRCh38]
Chr9:97876917 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.522-9C>A single nucleotide variant Fanconi anemia [RCV003072640] Chr9:95150096 [GRCh38]
Chr9:97912378 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1331T>G (p.Val444Gly) single nucleotide variant Ovarian cancer [RCV003154729] Chr9:95107268 [GRCh38]
Chr9:97869550 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.704C>T (p.Pro235Leu) single nucleotide variant Ovarian cancer [RCV003154801] Chr9:95135485 [GRCh38]
Chr9:97897767 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter) single nucleotide variant Fanconi anemia [RCV003635999]|Fanconi anemia complementation group C [RCV003145116] Chr9:95249168 [GRCh38]
Chr9:98011450 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.220G>T (p.Ala74Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181998] Chr9:95247462 [GRCh38]
Chr9:98009744 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1662G>A (p.Leu554=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181999] Chr9:95101722 [GRCh38]
Chr9:97864004 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.198A>T (p.Thr66=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164894] Chr9:95247484 [GRCh38]
Chr9:98009766 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.25_26delinsAA (p.Ser9Asn) indel Hereditary cancer-predisposing syndrome [RCV003164896] Chr9:95249266..95249267 [GRCh38]
Chr9:98011548..98011549 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1193T>C (p.Ile398Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164892] Chr9:95111599 [GRCh38]
Chr9:97873881 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.991A>G (p.Lys331Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164893] Chr9:95125091 [GRCh38]
Chr9:97887373 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1279G>A (p.Ala427Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003174737] Chr9:95111513 [GRCh38]
Chr9:97873795 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1627T>A (p.Ser543Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003174757] Chr9:95101757 [GRCh38]
Chr9:97864039 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.599T>G (p.Val200Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003174953] Chr9:95150010 [GRCh38]
Chr9:97912292 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.561T>C (p.Cys187=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177295] Chr9:95150048 [GRCh38]
Chr9:97912330 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.447G>A (p.Leu149=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177297] Chr9:95172046 [GRCh38]
Chr9:97934328 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.660T>C (p.Phe220=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177298] Chr9:95149949 [GRCh38]
Chr9:97912231 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1024C>T (p.Pro342Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177299] Chr9:95117363 [GRCh38]
Chr9:97879645 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1345G>C (p.Val449Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177300] Chr9:95107254 [GRCh38]
Chr9:97869536 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1624A>G (p.Arg542Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177301] Chr9:95101760 [GRCh38]
Chr9:97864042 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1315A>G (p.Arg439Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003171546] Chr9:95111477 [GRCh38]
Chr9:97873759 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1393C>G (p.Gln465Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181988] Chr9:95107206 [GRCh38]
Chr9:97869488 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.166G>T (p.Asp56Tyr) single nucleotide variant Fanconi anemia [RCV003523149]|Hereditary cancer-predisposing syndrome [RCV003181995] Chr9:95247516 [GRCh38]
Chr9:98009798 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1187T>A (p.Leu396Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181996] Chr9:95111605 [GRCh38]
Chr9:97873887 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.726C>T (p.Leu242=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181997] Chr9:95135463 [GRCh38]
Chr9:97897745 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.596T>A (p.Leu199Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003174945] Chr9:95150013 [GRCh38]
Chr9:97912295 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.588T>G (p.Val196=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003174965] Chr9:95150021 [GRCh38]
Chr9:97912303 [GRCh37]
Chr9:9q22.32		 likely benign
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del deletion Fanconi anemia complementation group C [RCV003226637] Chr9:97876910..97879673 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1604G>C (p.Arg535Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003171538] Chr9:95101780 [GRCh38]
Chr9:97864062 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1326T>C (p.Thr442=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003171539] Chr9:95111466 [GRCh38]
Chr9:97873748 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1072+4_1072+5dup duplication Hereditary cancer-predisposing syndrome [RCV003171540] Chr9:95117309..95117310 [GRCh38]
Chr9:97879591..97879592 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.562G>A (p.Val188Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003171541]|not provided [RCV003477061] Chr9:95150047 [GRCh38]
Chr9:97912329 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.737A>G (p.His246Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003171543] Chr9:95135452 [GRCh38]
Chr9:97897734 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.487G>A (p.Glu163Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003171544] Chr9:95171113 [GRCh38]
Chr9:97933395 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.781C>T (p.Leu261=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003171545] Chr9:95135408 [GRCh38]
Chr9:97897690 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.84G>A (p.Leu28=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164891] Chr9:95249208 [GRCh38]
Chr9:98011490 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.429A>G (p.Ile143Met) single nucleotide variant not provided [RCV003159479] Chr9:95172064 [GRCh38]
Chr9:97934346 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1423A>G (p.Thr475Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301941] Chr9:95107176 [GRCh38]
Chr9:97869458 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.520C>A (p.Arg174=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003174928] Chr9:95171080 [GRCh38]
Chr9:97933362 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1552A>G (p.Ile518Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177302] Chr9:95101832 [GRCh38]
Chr9:97864114 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1375A>G (p.Ser459Gly) single nucleotide variant Fanconi anemia [RCV003636004]|Hereditary cancer-predisposing syndrome [RCV003177303] Chr9:95107224 [GRCh38]
Chr9:97869506 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1330G>T (p.Val444Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177304] Chr9:95107269 [GRCh38]
Chr9:97869551 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.543G>T (p.Ala181=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003175003] Chr9:95150066 [GRCh38]
Chr9:97912348 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1103T>A (p.Leu368Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164895]|not provided [RCV003332420] Chr9:95114680 [GRCh38]
Chr9:97876962 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.591C>A (p.Asp197Glu) single nucleotide variant Fanconi anemia complementation group C [RCV003221315] Chr9:95150018 [GRCh38]
Chr9:97912300 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.587T>A (p.Val196Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003174938] Chr9:95150022 [GRCh38]
Chr9:97912304 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.611T>A (p.Leu204His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003174960] Chr9:95149998 [GRCh38]
Chr9:97912280 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.579G>A (p.Leu193=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181989] Chr9:95150030 [GRCh38]
Chr9:97912312 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.954T>C (p.Phe318=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181990] Chr9:95125128 [GRCh38]
Chr9:97887410 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1639G>T (p.Ala547Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181991] Chr9:95101745 [GRCh38]
Chr9:97864027 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.869T>C (p.Ile290Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181992] Chr9:95126556 [GRCh38]
Chr9:97888838 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.587T>G (p.Val196Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181993] Chr9:95150022 [GRCh38]
Chr9:97912304 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1543A>C (p.Thr515Pro) single nucleotide variant Fanconi anemia complementation group C [RCV005047446]|Hereditary cancer-predisposing syndrome [RCV003177306] Chr9:95101841 [GRCh38]
Chr9:97864123 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1336G>A (p.Val446Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003288292] Chr9:95107263 [GRCh38]
Chr9:97869545 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1100C>T (p.Thr367Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310174] Chr9:95114683 [GRCh38]
Chr9:97876965 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.362T>C (p.Ile121Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310175] Chr9:95172131 [GRCh38]
Chr9:97934413 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.381T>G (p.Phe127Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310177] Chr9:95172112 [GRCh38]
Chr9:97934394 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.904C>T (p.Leu302Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310178] Chr9:95125178 [GRCh38]
Chr9:97887460 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.251-4G>A single nucleotide variant Fanconi anemia [RCV003636009]|Hereditary cancer-predisposing syndrome [RCV003288508] Chr9:95240747 [GRCh38]
Chr9:98003029 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1541A>G (p.His514Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003288509] Chr9:95101843 [GRCh38]
Chr9:97864125 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1390G>A (p.Ala464Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003288510] Chr9:95107209 [GRCh38]
Chr9:97869491 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.562G>T (p.Val188Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003288511] Chr9:95150047 [GRCh38]
Chr9:97912329 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.348T>C (p.Gly116=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003288512] Chr9:95172145 [GRCh38]
Chr9:97934427 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.487G>C (p.Glu163Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003288513] Chr9:95171113 [GRCh38]
Chr9:97933395 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1387T>C (p.Ser463Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003288514] Chr9:95107212 [GRCh38]
Chr9:97869494 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.693G>T (p.Lys231Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003288515] Chr9:95135496 [GRCh38]
Chr9:97897778 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1317_1318del (p.Arg439fs) microsatellite not provided [RCV003324992] Chr9:95111474..95111475 [GRCh38]
Chr9:97873756..97873757 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1333C>G (p.Gln445Glu) single nucleotide variant not provided [RCV003329894] Chr9:95107266 [GRCh38]
Chr9:97869548 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.94C>A (p.Gln32Lys) single nucleotide variant not provided [RCV003325713] Chr9:95249198 [GRCh38]
Chr9:98011480 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1379G>C (p.Ser460Thr) single nucleotide variant not provided [RCV003329895] Chr9:95107220 [GRCh38]
Chr9:97869502 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.406C>T (p.Gln136Ter) single nucleotide variant Fanconi anemia complementation group C [RCV003330195] Chr9:95172087 [GRCh38]
Chr9:97934369 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.522-1G>A single nucleotide variant not provided [RCV003332526] Chr9:95150088 [GRCh38]
Chr9:97912370 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.855C>T (p.Ala285=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377532] Chr9:95126570 [GRCh38]
Chr9:97888852 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.166-4A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377531] Chr9:95247520 [GRCh38]
Chr9:98009802 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.785T>C (p.Ile262Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377530] Chr9:95135404 [GRCh38]
Chr9:97897686 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.429A>T (p.Ile143=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377954] Chr9:95172064 [GRCh38]
Chr9:97934346 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.163del (p.Met55fs) deletion Fanconi anemia complementation group C [RCV003468117] Chr9:95249129 [GRCh38]
Chr9:98011411 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.169del (p.Ser57fs) deletion Fanconi anemia complementation group C [RCV003468118]|Hereditary cancer-predisposing syndrome [RCV004364767] Chr9:95247513 [GRCh38]
Chr9:98009795 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1066C>T (p.Pro356Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003356209] Chr9:95117321 [GRCh38]
Chr9:97879603 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.547del (p.Leu183fs) deletion Fanconi anemia complementation group C [RCV003468119] Chr9:95150062 [GRCh38]
Chr9:97912344 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.346-1G>C single nucleotide variant Fanconi anemia complementation group C [RCV003468122] Chr9:95172148 [GRCh38]
Chr9:97934430 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.760del (p.Met254fs) deletion Hereditary cancer-predisposing syndrome [RCV003368117] Chr9:95135429 [GRCh38]
Chr9:97897711 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.295A>C (p.Asn99His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358187] Chr9:95240699 [GRCh38]
Chr9:98002981 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1667_1670dup (p.Gln557fs) duplication Hereditary cancer-predisposing syndrome [RCV003358186] Chr9:95101713..95101714 [GRCh38]
Chr9:97863995..97863996 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1612A>G (p.Ile538Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358185]|not provided [RCV004765803] Chr9:95101772 [GRCh38]
Chr9:97864054 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1651_1652dup (p.Lys552fs) duplication Hereditary cancer-predisposing syndrome [RCV003368113] Chr9:95101731..95101732 [GRCh38]
Chr9:97864013..97864014 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1309C>G (p.Gln437Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368114] Chr9:95111483 [GRCh38]
Chr9:97873765 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.714T>C (p.Ala238=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368115] Chr9:95135475 [GRCh38]
Chr9:97897757 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.882TGA[1] (p.Asp295del) microsatellite Hereditary cancer-predisposing syndrome [RCV003368116] Chr9:95126538..95126540 [GRCh38]
Chr9:97888820..97888822 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1031C>G (p.Thr344Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368118] Chr9:95117356 [GRCh38]
Chr9:97879638 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1436T>C (p.Leu479Pro) single nucleotide variant Fanconi anemia complementation group C [RCV005047541]|Hereditary cancer-predisposing syndrome [RCV003368119] Chr9:95107163 [GRCh38]
Chr9:97869445 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1626A>G (p.Arg542=) single nucleotide variant Fanconi anemia [RCV003523161]|Hereditary cancer-predisposing syndrome [RCV003368120] Chr9:95101758 [GRCh38]
Chr9:97864040 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.941C>T (p.Thr314Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368121] Chr9:95125141 [GRCh38]
Chr9:97887423 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.349G>C (p.Val117Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368122] Chr9:95172144 [GRCh38]
Chr9:97934426 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1456C>T (p.Leu486=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368123] Chr9:95107143 [GRCh38]
Chr9:97869425 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1054C>G (p.Leu352Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368124] Chr9:95117333 [GRCh38]
Chr9:97879615 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.257G>A (p.Ser86Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368125] Chr9:95240737 [GRCh38]
Chr9:98003019 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.203G>T (p.Gly68Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368126] Chr9:95247479 [GRCh38]
Chr9:98009761 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.802T>G (p.Cys268Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368127] Chr9:95135387 [GRCh38]
Chr9:97897669 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1445C>T (p.Pro482Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368128] Chr9:95107154 [GRCh38]
Chr9:97869436 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1114T>C (p.Ser372Pro) single nucleotide variant Fanconi anemia complementation group C [RCV003989837]|Hereditary cancer-predisposing syndrome [RCV003356323] Chr9:95114669 [GRCh38]
Chr9:97876951 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000136.3(FANCC):c.821G>A (p.Cys274Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003371865] Chr9:95135368 [GRCh38]
Chr9:97897650 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.125dup (p.Glu43fs) duplication Fanconi anemia complementation group C [RCV003460180] Chr9:95249166..95249167 [GRCh38]
Chr9:98011448..98011449 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.907del (p.Leu303fs) deletion Fanconi anemia complementation group C [RCV003460186] Chr9:95125175 [GRCh38]
Chr9:97887457 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter) single nucleotide variant Fanconi anemia complementation group C [RCV003460188] Chr9:95135353 [GRCh38]
Chr9:97897635 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1285_1297del (p.Tyr429fs) deletion Fanconi anemia [RCV003524831] Chr9:95111495..95111507 [GRCh38]
Chr9:97873777..97873789 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.951G>A (p.Val317=) single nucleotide variant not provided [RCV003481920] Chr9:95125131 [GRCh38]
Chr9:97887413 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.897-12T>G single nucleotide variant Fanconi anemia [RCV003873824] Chr9:95125197 [GRCh38]
Chr9:97887479 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.867_868insT (p.Ile290fs) insertion not provided [RCV003477209] Chr9:95126557..95126558 [GRCh38]
Chr9:97888839..97888840 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1038A>C (p.Pro346=) single nucleotide variant not provided [RCV003481919] Chr9:95117349 [GRCh38]
Chr9:97879631 [GRCh37]
Chr9:9q22.32		 uncertain significance
Single allele deletion not provided [RCV003448676] Chr9:92679543..109378847 [GRCh37]
Chr9:9q22.2-31.2		 pathogenic
NM_000136.3(FANCC):c.387_390del (p.Glu130fs) deletion Fanconi anemia complementation group C [RCV003460182] Chr9:95172103..95172106 [GRCh38]
Chr9:97934385..97934388 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.457-2A>G single nucleotide variant Fanconi anemia complementation group C [RCV003460183]|Hereditary cancer-predisposing syndrome [RCV004949091] Chr9:95171145 [GRCh38]
Chr9:97933427 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1308del (p.Arg436fs) deletion Fanconi anemia complementation group C [RCV003468120] Chr9:95111484 [GRCh38]
Chr9:97873766 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1329+1del deletion Fanconi anemia complementation group C [RCV003460187] Chr9:95111462 [GRCh38]
Chr9:97873744 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter) single nucleotide variant Fanconi anemia complementation group C [RCV003468121] Chr9:95111521 [GRCh38]
Chr9:97873803 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1329+258G>A single nucleotide variant FANCC-related disorder [RCV003391557] Chr9:95111205 [GRCh38]
Chr9:97873487 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1155-1G>T single nucleotide variant FANCC-related disorder [RCV003400025] Chr9:95111638 [GRCh38]
Chr9:97873920 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1329+192C>T single nucleotide variant not provided [RCV003430139] Chr9:95111271 [GRCh38]
Chr9:97873553 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1329+213G>A single nucleotide variant not provided [RCV003425715] Chr9:95111250 [GRCh38]
Chr9:97873532 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1453del (p.Gln485fs) deletion Fanconi anemia [RCV005100160]|Fanconi anemia complementation group C [RCV003460179] Chr9:95107146 [GRCh38]
Chr9:97869428 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1154+1del deletion Fanconi anemia complementation group C [RCV003460181] Chr9:95114628 [GRCh38]
Chr9:97876910 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.16_23del (p.Val6fs) deletion Fanconi anemia [RCV003524640] Chr9:95249269..95249276 [GRCh38]
Chr9:98011551..98011558 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1154+20T>G single nucleotide variant Fanconi anemia [RCV003524949] Chr9:95114609 [GRCh38]
Chr9:97876891 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter) single nucleotide variant Fanconi anemia [RCV003879434] Chr9:95111564 [GRCh38]
Chr9:97873846 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1329+16C>T single nucleotide variant Fanconi anemia [RCV003830806] Chr9:95111447 [GRCh38]
Chr9:97873729 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1068T>A (p.Pro356=) single nucleotide variant Fanconi anemia [RCV003524541] Chr9:95117319 [GRCh38]
Chr9:97879601 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-15A>G single nucleotide variant Fanconi anemia [RCV003826828] Chr9:95135517 [GRCh38]
Chr9:97897799 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-13G>A single nucleotide variant Fanconi anemia [RCV003525088] Chr9:95111650 [GRCh38]
Chr9:97873932 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.117T>G (p.Ala39=) single nucleotide variant Fanconi anemia [RCV003876070] Chr9:95249175 [GRCh38]
Chr9:98011457 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.423A>T (p.Ala141=) single nucleotide variant Fanconi anemia [RCV003524804] Chr9:95172070 [GRCh38]
Chr9:97934352 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1080T>G (p.Pro360=) single nucleotide variant Fanconi anemia [RCV003524810] Chr9:95114703 [GRCh38]
Chr9:97876985 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.686+17T>C single nucleotide variant Fanconi anemia [RCV003878464] Chr9:95149906 [GRCh38]
Chr9:97912188 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.457-16T>A single nucleotide variant Fanconi anemia [RCV003525148] Chr9:95171159 [GRCh38]
Chr9:97933441 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1358T>C (p.Leu453Pro) single nucleotide variant Fanconi anemia [RCV003524722] Chr9:95107241 [GRCh38]
Chr9:97869523 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1329+11G>A single nucleotide variant Fanconi anemia [RCV003525222] Chr9:95111452 [GRCh38]
Chr9:97873734 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.546C>G (p.Ser182=) single nucleotide variant Fanconi anemia [RCV003524754] Chr9:95150063 [GRCh38]
Chr9:97912345 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1073-19T>C single nucleotide variant Fanconi anemia [RCV003524919] Chr9:95114729 [GRCh38]
Chr9:97877011 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.346-18del deletion Fanconi anemia [RCV003524876] Chr9:95172165 [GRCh38]
Chr9:97934447 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.1533+11C>T single nucleotide variant Fanconi anemia [RCV003524966] Chr9:95107055 [GRCh38]
Chr9:97869337 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter) single nucleotide variant Fanconi anemia [RCV003522888]|Hereditary cancer-predisposing syndrome [RCV004621838] Chr9:95111583 [GRCh38]
Chr9:97873865 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1330-12_1330-8del deletion Fanconi anemia [RCV003524124] Chr9:95107277..95107281 [GRCh38]
Chr9:97869559..97869563 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1154+12C>T single nucleotide variant Fanconi anemia [RCV003811797] Chr9:95114617 [GRCh38]
Chr9:97876899 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.996+2T>C single nucleotide variant Fanconi anemia [RCV003524439] Chr9:95125084 [GRCh38]
Chr9:97887366 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1533+7C>T single nucleotide variant Fanconi anemia [RCV003524494] Chr9:95107059 [GRCh38]
Chr9:97869341 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1154+13T>G single nucleotide variant Fanconi anemia [RCV003522286] Chr9:95114616 [GRCh38]
Chr9:97876898 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.345+19C>T single nucleotide variant Fanconi anemia [RCV003523573] Chr9:95240630 [GRCh38]
Chr9:98002912 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.129_142del (p.Glu43fs) deletion Fanconi anemia [RCV003523646]|Hereditary cancer-predisposing syndrome [RCV004369344] Chr9:95249150..95249163 [GRCh38]
Chr9:98011432..98011445 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.897-11G>T single nucleotide variant Fanconi anemia [RCV003851737] Chr9:95125196 [GRCh38]
Chr9:97887478 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1534-19T>C single nucleotide variant Fanconi anemia [RCV003522516] Chr9:95101869 [GRCh38]
Chr9:97864151 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.477T>C (p.Ser159=) single nucleotide variant Fanconi anemia [RCV003523724] Chr9:95171123 [GRCh38]
Chr9:97933405 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1534-17T>C single nucleotide variant Fanconi anemia [RCV003522502] Chr9:95101867 [GRCh38]
Chr9:97864149 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-18G>C single nucleotide variant Fanconi anemia [RCV003522634] Chr9:95111655 [GRCh38]
Chr9:97873937 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1609G>T (p.Gly537Cys) single nucleotide variant Fanconi anemia [RCV003522659]|Hereditary cancer-predisposing syndrome [RCV004621835] Chr9:95101775 [GRCh38]
Chr9:97864057 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1332C>T (p.Val444=) single nucleotide variant Fanconi anemia [RCV003523894] Chr9:95107267 [GRCh38]
Chr9:97869549 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-16T>C single nucleotide variant Fanconi anemia [RCV003635776] Chr9:95135518 [GRCh38]
Chr9:97897800 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.165+18A>G single nucleotide variant Fanconi anemia [RCV003522455] Chr9:95249109 [GRCh38]
Chr9:98011391 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.997-5G>T single nucleotide variant Fanconi anemia [RCV003636376] Chr9:95117395 [GRCh38]
Chr9:97879677 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-78-3C>A single nucleotide variant Fanconi anemia [RCV003637048] Chr9:95249372 [GRCh38]
Chr9:98011654 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.165+17A>C single nucleotide variant Fanconi anemia [RCV003637065] Chr9:95249110 [GRCh38]
Chr9:98011392 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1330-13T>C single nucleotide variant Fanconi anemia [RCV003637403] Chr9:95107282 [GRCh38]
Chr9:97869564 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.707T>C (p.Met236Thr) single nucleotide variant Fanconi anemia [RCV003636407] Chr9:95135482 [GRCh38]
Chr9:97897764 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.456+16T>G single nucleotide variant Fanconi anemia [RCV003636419] Chr9:95172021 [GRCh38]
Chr9:97934303 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.844-20A>G single nucleotide variant Fanconi anemia [RCV003636316] Chr9:95126601 [GRCh38]
Chr9:97888883 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.879T>G (p.Val293=) single nucleotide variant Fanconi anemia [RCV003523921] Chr9:95126546 [GRCh38]
Chr9:97888828 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.843+20G>A single nucleotide variant Fanconi anemia [RCV003523960] Chr9:95135326 [GRCh38]
Chr9:97897608 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter) single nucleotide variant Fanconi anemia [RCV003523908]|Hereditary cancer-predisposing syndrome [RCV004950380] Chr9:95101802 [GRCh38]
Chr9:97864084 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.346-7T>A single nucleotide variant Fanconi anemia [RCV003636785] Chr9:95172154 [GRCh38]
Chr9:97934436 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1154+19C>T single nucleotide variant Fanconi anemia [RCV003637298] Chr9:95114610 [GRCh38]
Chr9:97876892 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1473C>T (p.Leu491=) single nucleotide variant Fanconi anemia [RCV003636824] Chr9:95107126 [GRCh38]
Chr9:97869408 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.521+20T>G single nucleotide variant Fanconi anemia [RCV003522173] Chr9:95171059 [GRCh38]
Chr9:97933341 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1330-7T>C single nucleotide variant Fanconi anemia [RCV003637316] Chr9:95107276 [GRCh38]
Chr9:97869558 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.456+12A>C single nucleotide variant Fanconi anemia [RCV003522773] Chr9:95172025 [GRCh38]
Chr9:97934307 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.994C>T (p.Gln332Ter) single nucleotide variant Fanconi anemia [RCV003523540] Chr9:95125088 [GRCh38]
Chr9:97887370 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.387A>G (p.Lys129=) single nucleotide variant Fanconi anemia [RCV003636594]|Hereditary cancer-predisposing syndrome [RCV004374143] Chr9:95172106 [GRCh38]
Chr9:97934388 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.975T>C (p.Ala325=) single nucleotide variant Fanconi anemia [RCV003637164] Chr9:95125107 [GRCh38]
Chr9:97887389 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.897-20T>A single nucleotide variant Fanconi anemia [RCV003636103] Chr9:95125205 [GRCh38]
Chr9:97887487 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.797G>A (p.Arg266Lys) single nucleotide variant Fanconi anemia [RCV003637333] Chr9:95135392 [GRCh38]
Chr9:97897674 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1464G>A (p.Arg488=) single nucleotide variant Fanconi anemia [RCV003523607] Chr9:95107135 [GRCh38]
Chr9:97869417 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.827T>C (p.Ile276Thr) single nucleotide variant Fanconi anemia [RCV003636171] Chr9:95135362 [GRCh38]
Chr9:97897644 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1073-6C>T single nucleotide variant Fanconi anemia [RCV003635565] Chr9:95114716 [GRCh38]
Chr9:97876998 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.521+14T>G single nucleotide variant Fanconi anemia [RCV003637200] Chr9:95171065 [GRCh38]
Chr9:97933347 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.996+11T>C single nucleotide variant Fanconi anemia [RCV003635683] Chr9:95125075 [GRCh38]
Chr9:97887357 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.251-2A>T single nucleotide variant Fanconi anemia [RCV003636250] Chr9:95240745 [GRCh38]
Chr9:98003027 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1533+17T>C single nucleotide variant Fanconi anemia [RCV003637225] Chr9:95107049 [GRCh38]
Chr9:97869331 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.992_995dup (p.Leu333fs) microsatellite Fanconi anemia [RCV003636590]|Fanconi anemia complementation group C [RCV005063141] Chr9:95125086..95125087 [GRCh38]
Chr9:97887368..97887369 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.346-14T>G single nucleotide variant Fanconi anemia [RCV003524485] Chr9:95172161 [GRCh38]
Chr9:97934443 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1155-12C>T single nucleotide variant Fanconi anemia [RCV003636606] Chr9:95111649 [GRCh38]
Chr9:97873931 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-12T>G single nucleotide variant Fanconi anemia [RCV003636978] Chr9:95135514 [GRCh38]
Chr9:97897796 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.922G>A (p.Ala308Thr) single nucleotide variant Fanconi anemia [RCV003636983] Chr9:95125160 [GRCh38]
Chr9:97887442 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.844-15C>T single nucleotide variant Fanconi anemia [RCV003851621] Chr9:95126596 [GRCh38]
Chr9:97888878 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1533+1G>A single nucleotide variant Fanconi anemia [RCV003636614] Chr9:95107065 [GRCh38]
Chr9:97869347 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.997-14C>A single nucleotide variant Fanconi anemia [RCV003636619]|Fanconi anemia complementation group C [RCV005047818] Chr9:95117404 [GRCh38]
Chr9:97879686 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000136.3(FANCC):c.1486C>T (p.Leu496Phe) single nucleotide variant Fanconi anemia [RCV003637088] Chr9:95107113 [GRCh38]
Chr9:97869395 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.354A>G (p.Leu118=) single nucleotide variant Fanconi anemia [RCV003522272] Chr9:95172139 [GRCh38]
Chr9:97934421 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.457-17C>T single nucleotide variant Fanconi anemia [RCV003636904] Chr9:95171160 [GRCh38]
Chr9:97933442 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.651A>G (p.Pro217=) single nucleotide variant Fanconi anemia [RCV003636906] Chr9:95149958 [GRCh38]
Chr9:97912240 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.711A>G (p.Ser237=) single nucleotide variant Fanconi anemia [RCV003636907] Chr9:95135478 [GRCh38]
Chr9:97897760 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-17T>G single nucleotide variant Fanconi anemia [RCV003635422] Chr9:95135519 [GRCh38]
Chr9:97897801 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.-8T>C single nucleotide variant Fanconi anemia [RCV003635555] Chr9:95249299 [GRCh38]
Chr9:98011581 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.474G>C (p.Ala158=) single nucleotide variant Fanconi anemia [RCV003636219] Chr9:95171126 [GRCh38]
Chr9:97933408 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1534-13G>T single nucleotide variant Fanconi anemia [RCV003636153] Chr9:95101863 [GRCh38]
Chr9:97864145 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.641T>A (p.Ile214Asn) single nucleotide variant Fanconi anemia [RCV003636245] Chr9:95149968 [GRCh38]
Chr9:97912250 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.165+15A>G single nucleotide variant Fanconi anemia [RCV003636374] Chr9:95249112 [GRCh38]
Chr9:98011394 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1578T>A (p.Leu526=) single nucleotide variant Fanconi anemia [RCV003636410] Chr9:95101806 [GRCh38]
Chr9:97864088 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.547C>G (p.Leu183Val) single nucleotide variant Fanconi anemia [RCV003636501] Chr9:95150062 [GRCh38]
Chr9:97912344 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1563dup (p.Ile522fs) duplication Fanconi anemia [RCV003636922] Chr9:95101820..95101821 [GRCh38]
Chr9:97864102..97864103 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1551_1552del (p.Glu517fs) microsatellite Fanconi anemia [RCV003637030] Chr9:95101832..95101833 [GRCh38]
Chr9:97864114..97864115 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.162G>A (p.Glu54=) single nucleotide variant Fanconi anemia [RCV003635727] Chr9:95249130 [GRCh38]
Chr9:98011412 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.166-20A>G single nucleotide variant Fanconi anemia [RCV003636517] Chr9:95247536 [GRCh38]
Chr9:98009818 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1395G>A (p.Gln465=) single nucleotide variant Fanconi anemia [RCV003636820]|Hereditary cancer-predisposing syndrome [RCV004621886] Chr9:95107204 [GRCh38]
Chr9:97869486 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.857G>A (p.Cys286Tyr) single nucleotide variant Fanconi anemia [RCV003524350] Chr9:95126568 [GRCh38]
Chr9:97888850 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.844-1G>A single nucleotide variant Fanconi anemia [RCV003636831]|Fanconi anemia complementation group C [RCV004573277] Chr9:95126582 [GRCh38]
Chr9:97888864 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000136.3(FANCC):c.1329+16del deletion Fanconi anemia [RCV003636941] Chr9:95111447 [GRCh38]
Chr9:97873729 [GRCh37]
Chr9:9q22.32		 benign
NM_000136.3(FANCC):c.343C>T (p.Gln115Ter) single nucleotide variant Fanconi anemia [RCV003635517] Chr9:95240651 [GRCh38]
Chr9:98002933 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.804T>C (p.Cys268=) single nucleotide variant Fanconi anemia [RCV003635567] Chr9:95135385 [GRCh38]
Chr9:97897667 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.896+19C>T single nucleotide variant Fanconi anemia [RCV003522478] Chr9:95126510 [GRCh38]
Chr9:97888792 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.686T>G (p.Leu229Arg) single nucleotide variant Fanconi anemia [RCV003635656] Chr9:95149923 [GRCh38]
Chr9:97912205 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.66G>A (p.Trp22Ter) single nucleotide variant Fanconi anemia [RCV003635726] Chr9:95249226 [GRCh38]
Chr9:98011508 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.521+17A>T single nucleotide variant Fanconi anemia [RCV003523920] Chr9:95171062 [GRCh38]
Chr9:97933344 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1073-9C>T single nucleotide variant Fanconi anemia [RCV003838185] Chr9:95114719 [GRCh38]
Chr9:97877001 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1504C>T (p.His502Tyr) single nucleotide variant Fanconi anemia [RCV003523598] Chr9:95107095 [GRCh38]
Chr9:97869377 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.521+15A>G single nucleotide variant Fanconi anemia [RCV003635772] Chr9:95171064 [GRCh38]
Chr9:97933346 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1572C>A (p.Gly524=) single nucleotide variant Fanconi anemia [RCV003524498] Chr9:95101812 [GRCh38]
Chr9:97864094 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.250+8T>A single nucleotide variant Fanconi anemia [RCV003635658] Chr9:95247424 [GRCh38]
Chr9:98009706 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.885T>C (p.Asp295=) single nucleotide variant Fanconi anemia [RCV003523893] Chr9:95126540 [GRCh38]
Chr9:97888822 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.686+13T>C single nucleotide variant Fanconi anemia [RCV003635699] Chr9:95149910 [GRCh38]
Chr9:97912192 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1234C>T (p.Leu412=) single nucleotide variant Fanconi anemia [RCV003524101]|Hereditary cancer-predisposing syndrome [RCV004621811] Chr9:95111558 [GRCh38]
Chr9:97873840 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1533+7C>A single nucleotide variant Fanconi anemia [RCV003524112] Chr9:95107059 [GRCh38]
Chr9:97869341 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1330-13T>A single nucleotide variant Fanconi anemia [RCV003524125] Chr9:95107282 [GRCh38]
Chr9:97869564 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.346-10T>C single nucleotide variant Fanconi anemia [RCV003523654] Chr9:95172157 [GRCh38]
Chr9:97934439 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.303A>G (p.Glu101=) single nucleotide variant Fanconi anemia [RCV003637646] Chr9:95240691 [GRCh38]
Chr9:98002973 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.612del (p.Ile205fs) deletion Fanconi anemia [RCV003637974] Chr9:95149997 [GRCh38]
Chr9:97912279 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1270T>G (p.Trp424Gly) single nucleotide variant Fanconi anemia [RCV003637995] Chr9:95111522 [GRCh38]
Chr9:97873804 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.844-18G>A single nucleotide variant Fanconi anemia [RCV003821178] Chr9:95126599 [GRCh38]
Chr9:97888881 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1154G>A (p.Gly385Glu) single nucleotide variant Fanconi anemia [RCV003864933] Chr9:95114629 [GRCh38]
Chr9:97876911 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.15A>T (p.Ser5=) single nucleotide variant Fanconi anemia [RCV003638112] Chr9:95249277 [GRCh38]
Chr9:98011559 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.797_798dup (p.Asn267fs) microsatellite Fanconi anemia [RCV003637819] Chr9:95135390..95135391 [GRCh38]
Chr9:97897672..97897673 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1329+18C>T single nucleotide variant Fanconi anemia [RCV003637456] Chr9:95111445 [GRCh38]
Chr9:97873727 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.996+18T>C single nucleotide variant Fanconi anemia [RCV003637698] Chr9:95125068 [GRCh38]
Chr9:97887350 [GRCh37]
Chr9:9q22.32		 likely benign
GRCh37/hg19 9q22.32(chr9:96614972-98444423)x1 copy number loss not specified [RCV003986837] Chr9:96614972..98444423 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.165+18A>C single nucleotide variant Fanconi anemia [RCV003853074] Chr9:95249109 [GRCh38]
Chr9:98011391 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.285T>A (p.Cys95Ter) single nucleotide variant Fanconi anemia [RCV003637936] Chr9:95240709 [GRCh38]
Chr9:98002991 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.843+16T>C single nucleotide variant Fanconi anemia [RCV003871620] Chr9:95135330 [GRCh38]
Chr9:97897612 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-14T>A single nucleotide variant Fanconi anemia [RCV003638051] Chr9:95135516 [GRCh38]
Chr9:97897798 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.996+8dup duplication Fanconi anemia [RCV003858903] Chr9:95125077..95125078 [GRCh38]
Chr9:97887359..97887360 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.165+5G>T single nucleotide variant Fanconi anemia [RCV003868602] Chr9:95249122 [GRCh38]
Chr9:98011404 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.165+14C>A single nucleotide variant Fanconi anemia [RCV003637674] Chr9:95249113 [GRCh38]
Chr9:98011395 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1101A>C (p.Thr367=) single nucleotide variant Fanconi anemia [RCV003637880] Chr9:95114682 [GRCh38]
Chr9:97876964 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1478A>G (p.Asn493Ser) single nucleotide variant Fanconi anemia [RCV003638092] Chr9:95107121 [GRCh38]
Chr9:97869403 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.753A>G (p.Glu251=) single nucleotide variant Fanconi anemia [RCV003864946] Chr9:95135436 [GRCh38]
Chr9:97897718 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.78C>T (p.Ser26=) single nucleotide variant Fanconi anemia [RCV003853225]|Hereditary cancer-predisposing syndrome [RCV004621927] Chr9:95249214 [GRCh38]
Chr9:98011496 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.165+1G>A single nucleotide variant Fanconi anemia [RCV003864208] Chr9:95249126 [GRCh38]
Chr9:98011408 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.996+8A>T single nucleotide variant Fanconi anemia [RCV003637635] Chr9:95125078 [GRCh38]
Chr9:97887360 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.76dup (p.Ser26fs) duplication Fanconi anemia [RCV003637840] Chr9:95249215..95249216 [GRCh38]
Chr9:98011497..98011498 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1154+11A>G single nucleotide variant Fanconi anemia [RCV003637998] Chr9:95114618 [GRCh38]
Chr9:97876900 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.687-6T>G single nucleotide variant Fanconi anemia [RCV003638083] Chr9:95135508 [GRCh38]
Chr9:97897790 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1015A>T (p.Thr339Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520502] Chr9:95117372 [GRCh38]
Chr9:97879654 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1019A>C (p.Tyr340Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520503] Chr9:95117368 [GRCh38]
Chr9:97879650 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1073A>G (p.Asp358Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520505] Chr9:95114710 [GRCh38]
Chr9:97876992 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.111C>G (p.His37Gln) single nucleotide variant Fanconi anemia [RCV005100672]|Hereditary cancer-predisposing syndrome [RCV004520506] Chr9:95249181 [GRCh38]
Chr9:98011463 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1157C>G (p.Ser386Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520507] Chr9:95111635 [GRCh38]
Chr9:97873917 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1261G>T (p.Ala421Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520509] Chr9:95111531 [GRCh38]
Chr9:97873813 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1298G>C (p.Arg433Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520511] Chr9:95111494 [GRCh38]
Chr9:97873776 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1448C>T (p.Ala483Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520514] Chr9:95107151 [GRCh38]
Chr9:97869433 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1498G>A (p.Gly500Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520516] Chr9:95107101 [GRCh38]
Chr9:97869383 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1563G>A (p.Glu521=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520519] Chr9:95101821 [GRCh38]
Chr9:97864103 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1618A>G (p.Ser540Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520520] Chr9:95101766 [GRCh38]
Chr9:97864048 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1639G>A (p.Ala547Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520521] Chr9:95101745 [GRCh38]
Chr9:97864027 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.175A>G (p.Thr59Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520523] Chr9:95247507 [GRCh38]
Chr9:98009789 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.189A>C (p.Arg63Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520524] Chr9:95247493 [GRCh38]
Chr9:98009775 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.26C>T (p.Ser9Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520528] Chr9:95249266 [GRCh38]
Chr9:98011548 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.278G>T (p.Cys93Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520529] Chr9:95240716 [GRCh38]
Chr9:98002998 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.457-3C>T single nucleotide variant Fanconi anemia [RCV005100673]|Hereditary cancer-predisposing syndrome [RCV004520533] Chr9:95171146 [GRCh38]
Chr9:97933428 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.458T>A (p.Met153Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520534] Chr9:95171142 [GRCh38]
Chr9:97933424 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.460G>A (p.Val154Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520535] Chr9:95171140 [GRCh38]
Chr9:97933422 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.480A>T (p.Glu160Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520537] Chr9:95171120 [GRCh38]
Chr9:97933402 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.521+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520538] Chr9:95171076 [GRCh38]
Chr9:97933358 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.610C>A (p.Leu204Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520542] Chr9:95149999 [GRCh38]
Chr9:97912281 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.647A>C (p.Gln216Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520543] Chr9:95149962 [GRCh38]
Chr9:97912244 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.654G>T (p.Glu218Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520544] Chr9:95149955 [GRCh38]
Chr9:97912237 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.774del (p.Phe258fs) deletion Hereditary cancer-predisposing syndrome [RCV004520546] Chr9:95135415 [GRCh38]
Chr9:97897697 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.779A>G (p.Lys260Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520547] Chr9:95135410 [GRCh38]
Chr9:97897692 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.816C>A (p.Ile272=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520548] Chr9:95135373 [GRCh38]
Chr9:97897655 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.907C>T (p.Leu303=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520550] Chr9:95125175 [GRCh38]
Chr9:97887457 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.922G>T (p.Ala308Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520551] Chr9:95125160 [GRCh38]
Chr9:97887442 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.932T>G (p.Ile311Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520552] Chr9:95125150 [GRCh38]
Chr9:97887432 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.95A>G (p.Gln32Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520554] Chr9:95249197 [GRCh38]
Chr9:98011479 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1329+144G>A single nucleotide variant FANCC-related disorder [RCV003897125] Chr9:95111319 [GRCh38]
Chr9:97873601 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1167T>C (p.Gly389=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520508] Chr9:95111625 [GRCh38]
Chr9:97873907 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.137G>A (p.Arg46Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520512] Chr9:95249155 [GRCh38]
Chr9:98011437 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.761T>A (p.Met254Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520545] Chr9:95135428 [GRCh38]
Chr9:97897710 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.94C>T (p.Gln32Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520553] Chr9:95249198 [GRCh38]
Chr9:98011480 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.967G>C (p.Val323Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520555] Chr9:95125115 [GRCh38]
Chr9:97887397 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1295C>T (p.Pro432Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520510] Chr9:95111497 [GRCh38]
Chr9:97873779 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1414G>C (p.Gly472Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520513] Chr9:95107185 [GRCh38]
Chr9:97869467 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1521T>C (p.Asp507=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520517] Chr9:95107078 [GRCh38]
Chr9:97869360 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.194C>T (p.Pro65Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520525] Chr9:95247488 [GRCh38]
Chr9:98009770 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.456+3G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520532] Chr9:95172034 [GRCh38]
Chr9:97934316 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.463T>A (p.Leu155Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520536] Chr9:95171137 [GRCh38]
Chr9:97933419 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.541G>T (p.Ala181Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520539] Chr9:95150068 [GRCh38]
Chr9:97912350 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.146A>C (p.Tyr49Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520515] Chr9:95249146 [GRCh38]
Chr9:98011428 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.296A>G (p.Asn99Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520530] Chr9:95240698 [GRCh38]
Chr9:98002980 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.404C>T (p.Thr135Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520531] Chr9:95172089 [GRCh38]
Chr9:97934371 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.576C>A (p.Thr192=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520540] Chr9:95150033 [GRCh38]
Chr9:97912315 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1329+126T>C single nucleotide variant FANCC-related disorder [RCV003924244] Chr9:95111337 [GRCh38]
Chr9:97873619 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1329+207C>T single nucleotide variant FANCC-related disorder [RCV003896626] Chr9:95111256 [GRCh38]
Chr9:97873538 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1329+198G>T single nucleotide variant FANCC-related disorder [RCV003913945] Chr9:95111265 [GRCh38]
Chr9:97873547 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1035_1037del (p.Pro346del) deletion Hereditary cancer-predisposing syndrome [RCV004520504] Chr9:95117350..95117352 [GRCh38]
Chr9:97879632..97879634 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1552A>T (p.Ile518Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520518] Chr9:95101832 [GRCh38]
Chr9:97864114 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.209T>C (p.Leu70Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520526] Chr9:95247473 [GRCh38]
Chr9:98009755 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.243A>G (p.Leu81=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520527] Chr9:95247439 [GRCh38]
Chr9:98009721 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.593C>A (p.Pro198His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520541] Chr9:95150016 [GRCh38]
Chr9:97912298 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.827T>G (p.Ile276Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520549] Chr9:95135362 [GRCh38]
Chr9:97897644 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.996+3T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520556] Chr9:95125083 [GRCh38]
Chr9:97887365 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.247T>C (p.Tyr83His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004383706] Chr9:95247435 [GRCh38]
Chr9:98009717 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.34del (p.Tyr12fs) deletion Fanconi anemia [RCV004018217] Chr9:95249258 [GRCh38]
Chr9:98011540 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.177_178del (p.Val60fs) deletion Fanconi anemia complementation group C [RCV004576540] Chr9:95247504..95247505 [GRCh38]
Chr9:98009786..98009787 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1228del (p.Gln410fs) deletion Fanconi anemia complementation group C [RCV004576537] Chr9:95111564 [GRCh38]
Chr9:97873846 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1073-2A>G single nucleotide variant Fanconi anemia complementation group C [RCV004576538] Chr9:95114712 [GRCh38]
Chr9:97876994 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1297del (p.Arg433fs) deletion Fanconi anemia complementation group C [RCV004576539] Chr9:95111495 [GRCh38]
Chr9:97873777 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.864T>G (p.Pro288=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620724] Chr9:95126561 [GRCh38]
Chr9:97888843 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.665C>G (p.Ala222Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620751] Chr9:95149944 [GRCh38]
Chr9:97912226 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.474G>T (p.Ala158=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620756] Chr9:95171126 [GRCh38]
Chr9:97933408 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1380C>G (p.Ser460Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620758] Chr9:95107219 [GRCh38]
Chr9:97869501 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_97863989)_(98270643_?)del deletion Gorlin syndrome [RCV004581811] Chr9:97863989..98270643 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.11:g.(?_97863989)_(98239149_?)dup duplication Gorlin syndrome [RCV004581818] Chr9:97863989..98239149 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_97887348)_(97887487_?)del deletion Fanconi anemia [RCV004581828] Chr9:97887348..97887487 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.11:g.(?_97863989)_(97864152_?)del deletion Fanconi anemia [RCV004581829] Chr9:97863989..97864152 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.11:g.(?_97912185)_(97912389_?)del deletion Fanconi anemia [RCV004581830] Chr9:97912185..97912389 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_98009694)_(98011661_?)del deletion Fanconi anemia [RCV004581831] Chr9:98009694..98011661 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.11:g.(?_97863989)_(97879692_?)dup duplication Fanconi anemia [RCV004581832] Chr9:97863989..97879692 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_97863989)_(97934439_?)dup duplication Fanconi anemia [RCV004581833] Chr9:97863989..97934439 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.647A>G (p.Gln216Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620737] Chr9:95149962 [GRCh38]
Chr9:97912244 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.346G>T (p.Gly116Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620750] Chr9:95172147 [GRCh38]
Chr9:97934429 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.131T>G (p.Phe44Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620755] Chr9:95249161 [GRCh38]
Chr9:98011443 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.152C>T (p.Ala51Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620760] Chr9:95249140 [GRCh38]
Chr9:98011422 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1647G>A (p.Glu549=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620761] Chr9:95101737 [GRCh38]
Chr9:97864019 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.343C>G (p.Gln115Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620768] Chr9:95240651 [GRCh38]
Chr9:98002933 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.165G>T (p.Met55Ile) single nucleotide variant Fanconi anemia complementation group C [RCV004689394] Chr9:95249127 [GRCh38]
Chr9:98011409 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1375A>C (p.Ser459Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620727] Chr9:95107224 [GRCh38]
Chr9:97869506 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.67G>C (p.Asp23His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620728] Chr9:95249225 [GRCh38]
Chr9:98011507 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.706A>T (p.Met236Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620732] Chr9:95135483 [GRCh38]
Chr9:97897765 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.305C>A (p.Pro102Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620734] Chr9:95240689 [GRCh38]
Chr9:98002971 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1253C>T (p.Pro418Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620740] Chr9:95111539 [GRCh38]
Chr9:97873821 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1651C>T (p.Leu551Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620742] Chr9:95101733 [GRCh38]
Chr9:97864015 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.863C>T (p.Pro288Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620743]|not provided [RCV004767660] Chr9:95126562 [GRCh38]
Chr9:97888844 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.942T>A (p.Thr314=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620744] Chr9:95125140 [GRCh38]
Chr9:97887422 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1482C>G (p.Phe494Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620745] Chr9:95107117 [GRCh38]
Chr9:97869399 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.242T>C (p.Leu81Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620748] Chr9:95247440 [GRCh38]
Chr9:98009722 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.870A>G (p.Ile290Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620759] Chr9:95126555 [GRCh38]
Chr9:97888837 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.979G>C (p.Glu327Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620763] Chr9:95125103 [GRCh38]
Chr9:97887385 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1415G>A (p.Gly472Glu) single nucleotide variant Fanconi anemia complementation group C [RCV005040720]|Hereditary cancer-predisposing syndrome [RCV004620764] Chr9:95107184 [GRCh38]
Chr9:97869466 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1377C>G (p.Ser459Arg) single nucleotide variant not provided [RCV004592389] Chr9:95107222 [GRCh38]
Chr9:97869504 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1185C>G (p.Phe395Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620730] Chr9:95111607 [GRCh38]
Chr9:97873889 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1610G>A (p.Gly537Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620736] Chr9:95101774 [GRCh38]
Chr9:97864056 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.993G>T (p.Lys331Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620741] Chr9:95125089 [GRCh38]
Chr9:97887371 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.587T>C (p.Val196Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620746] Chr9:95150022 [GRCh38]
Chr9:97912304 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1534A>T (p.Met512Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620752] Chr9:95101850 [GRCh38]
Chr9:97864132 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1231T>C (p.Leu411=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620753] Chr9:95111561 [GRCh38]
Chr9:97873843 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1614T>G (p.Ile538Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620754] Chr9:95101770 [GRCh38]
Chr9:97864052 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1051G>A (p.Val351Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620769] Chr9:95117336 [GRCh38]
Chr9:97879618 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.356C>G (p.Ser119Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620731] Chr9:95172137 [GRCh38]
Chr9:97934419 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.279C>A (p.Cys93Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620735] Chr9:95240715 [GRCh38]
Chr9:98002997 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.1616A>G (p.Glu539Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620739] Chr9:95101768 [GRCh38]
Chr9:97864050 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1164A>G (p.Gly388=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620749] Chr9:95111628 [GRCh38]
Chr9:97873910 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1049T>C (p.Met350Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620762] Chr9:95117338 [GRCh38]
Chr9:97879620 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.513T>C (p.Thr171=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620767] Chr9:95171087 [GRCh38]
Chr9:97933369 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.344A>G (p.Gln115Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620722] Chr9:95240650 [GRCh38]
Chr9:98002932 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.283T>C (p.Cys95Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004620765] Chr9:95240711 [GRCh38]
Chr9:98002993 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1669C>A (p.Gln557Lys) single nucleotide variant not provided [RCV004769464] Chr9:95101715 [GRCh38]
Chr9:97863997 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1154+6C>G single nucleotide variant not provided [RCV004762454]   uncertain significance
NM_000136.3(FANCC):c.244G>A (p.Ala82Thr) single nucleotide variant not provided [RCV004776122] Chr9:95247438 [GRCh38]
Chr9:98009720 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.*4G>A single nucleotide variant FANCC-related disorder [RCV004750626] Chr9:95101703 [GRCh38]
Chr9:97863985 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.833A>T (p.Asp278Val) single nucleotide variant Fanconi anemia complementation group C [RCV005040846]|Hereditary cancer-predisposing syndrome [RCV004947951] Chr9:95135356 [GRCh38]
Chr9:97897638 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.193C>T (p.Pro65Ser) single nucleotide variant not provided [RCV004772770] Chr9:95247489 [GRCh38]
Chr9:98009771 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1329+255C>T single nucleotide variant not provided [RCV004727507] Chr9:95111208 [GRCh38]
Chr9:97873490 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.688A>G (p.Lys230Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950840]|not provided [RCV004761461]   uncertain significance
NM_000136.3(FANCC):c.1329+235A>G single nucleotide variant Fanconi anemia complementation group C [RCV005048753] Chr9:95111228 [GRCh38]
Chr9:97873510 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1658A>G (p.Glu553Gly) single nucleotide variant Fanconi anemia [RCV005105337]|Fanconi anemia complementation group C [RCV005048749] Chr9:95101726 [GRCh38]
Chr9:97864008 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.943A>C (p.Ile315Leu) single nucleotide variant Fanconi anemia complementation group C [RCV005049227] Chr9:95125139 [GRCh38]
Chr9:97887421 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.510C>G (p.Asn170Lys) single nucleotide variant Fanconi anemia complementation group C [RCV005049229] Chr9:95171090 [GRCh38]
Chr9:97933372 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.856dup (p.Cys286fs) duplication Fanconi anemia complementation group C [RCV005048760] Chr9:95126568..95126569 [GRCh38]
Chr9:97888850..97888851 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.739C>G (p.Leu247Val) single nucleotide variant Fanconi anemia complementation group C [RCV005048762] Chr9:95135450 [GRCh38]
Chr9:97897732 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1150C>G (p.His384Asp) single nucleotide variant Fanconi anemia complementation group C [RCV005048756] Chr9:95114633 [GRCh38]
Chr9:97876915 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.625C>A (p.Arg209Ser) single nucleotide variant Fanconi anemia complementation group C [RCV005048764] Chr9:95149984 [GRCh38]
Chr9:97912266 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.241T>A (p.Leu81Ile) single nucleotide variant Fanconi anemia complementation group C [RCV005048768] Chr9:95247441 [GRCh38]
Chr9:98009723 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.25del (p.Ser9fs) deletion Fanconi anemia complementation group C [RCV005048770] Chr9:95249267 [GRCh38]
Chr9:98011549 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.1355del (p.His452fs) deletion Fanconi anemia complementation group C [RCV005048752] Chr9:95107244 [GRCh38]
Chr9:97869526 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.950T>A (p.Val317Glu) single nucleotide variant Fanconi anemia complementation group C [RCV005048758] Chr9:95125132 [GRCh38]
Chr9:97887414 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.388G>C (p.Glu130Gln) single nucleotide variant Fanconi anemia complementation group C [RCV005048766] Chr9:95172105 [GRCh38]
Chr9:97934387 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.804_807del (p.Asn267_Cys268insTer) deletion Fanconi anemia complementation group C [RCV005049228] Chr9:95135382..95135385 [GRCh38]
Chr9:97897664..97897667 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.421del (p.Ala141fs) deletion Fanconi anemia complementation group C [RCV005049230] Chr9:95172072 [GRCh38]
Chr9:97934354 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.7C>G (p.Gln3Glu) single nucleotide variant Fanconi anemia complementation group C [RCV005049231] Chr9:95249285 [GRCh38]
Chr9:98011567 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1255C>T (p.Pro419Ser) single nucleotide variant Fanconi anemia complementation group C [RCV005048755] Chr9:95111537 [GRCh38]
Chr9:97873819 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1096C>T (p.Gln366Ter) single nucleotide variant Fanconi anemia complementation group C [RCV005048757] Chr9:95114687 [GRCh38]
Chr9:97876969 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.918dup (p.Gly307fs) duplication Fanconi anemia complementation group C [RCV005048759] Chr9:95125163..95125164 [GRCh38]
Chr9:97887445..97887446 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.634C>T (p.Gln212Ter) single nucleotide variant Fanconi anemia complementation group C [RCV005048763] Chr9:95149975 [GRCh38]
Chr9:97912257 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000136.3(FANCC):c.265A>C (p.Ile89Leu) single nucleotide variant Fanconi anemia complementation group C [RCV005048767] Chr9:95240729 [GRCh38]
Chr9:98003011 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.415G>C (p.Gly139Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947924] Chr9:95172078 [GRCh38]
Chr9:97934360 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.996+5G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947926] Chr9:95125081 [GRCh38]
Chr9:97887363 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.66G>C (p.Trp22Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947939] Chr9:95249226 [GRCh38]
Chr9:98011508 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1559A>T (p.His520Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947940] Chr9:95101825 [GRCh38]
Chr9:97864107 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1281C>A (p.Ala427=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947941] Chr9:95111511 [GRCh38]
Chr9:97873793 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1508C>G (p.Thr503Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947954] Chr9:95107091 [GRCh38]
Chr9:97869373 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.542C>A (p.Ala181Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947956] Chr9:95150067 [GRCh38]
Chr9:97912349 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.119A>G (p.Gln40Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947958] Chr9:95249173 [GRCh38]
Chr9:98011455 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.451A>G (p.Lys151Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947959] Chr9:95172042 [GRCh38]
Chr9:97934324 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.478G>A (p.Glu160Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947974] Chr9:95171122 [GRCh38]
Chr9:97933404 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1560C>A (p.His520Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947977] Chr9:95101824 [GRCh38]
Chr9:97864106 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.319C>G (p.Gln107Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947978] Chr9:95240675 [GRCh38]
Chr9:98002957 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1043T>C (p.Leu348Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947921] Chr9:95117344 [GRCh38]
Chr9:97879626 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1018T>C (p.Tyr340His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947925] Chr9:95117369 [GRCh38]
Chr9:97879651 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.291A>C (p.Leu97=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947931] Chr9:95240703 [GRCh38]
Chr9:98002985 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.649C>G (p.Pro217Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947934] Chr9:95149960 [GRCh38]
Chr9:97912242 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.226T>C (p.Trp76Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947961] Chr9:95247456 [GRCh38]
Chr9:98009738 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.666T>A (p.Ala222=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947969] Chr9:95149943 [GRCh38]
Chr9:97912225 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.268C>T (p.Leu90=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947970] Chr9:95240726 [GRCh38]
Chr9:98003008 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1284C>T (p.Phe428=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947972] Chr9:95111508 [GRCh38]
Chr9:97873790 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1234C>G (p.Leu412Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947976] Chr9:95111558 [GRCh38]
Chr9:97873840 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.101C>T (p.Thr34Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947938] Chr9:95249191 [GRCh38]
Chr9:98011473 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.4G>T (p.Ala2Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947942] Chr9:95249288 [GRCh38]
Chr9:98011570 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1295C>G (p.Pro432Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947962] Chr9:95111497 [GRCh38]
Chr9:97873779 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.802T>C (p.Cys268Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947963] Chr9:95135387 [GRCh38]
Chr9:97897669 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1514C>T (p.Ala505Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947971] Chr9:95107085 [GRCh38]
Chr9:97869367 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.630A>G (p.Glu210=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947967] Chr9:95149979 [GRCh38]
Chr9:97912261 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.14C>G (p.Ser5Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947968] Chr9:95249278 [GRCh38]
Chr9:98011560 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.940A>G (p.Thr314Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947979] Chr9:95125142 [GRCh38]
Chr9:97887424 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1076T>C (p.Ile359Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947980] Chr9:95114707 [GRCh38]
Chr9:97876989 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.427A>G (p.Ile143Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947927] Chr9:95172066 [GRCh38]
Chr9:97934348 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1222G>A (p.Ala408Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947932] Chr9:95111570 [GRCh38]
Chr9:97873852 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.259C>A (p.Gln87Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947935] Chr9:95240735 [GRCh38]
Chr9:98003017 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.148G>A (p.Glu50Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947936] Chr9:95249144 [GRCh38]
Chr9:98011426 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1199T>C (p.Phe400Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947943] Chr9:95111593 [GRCh38]
Chr9:97873875 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1416A>G (p.Gly472=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947944] Chr9:95107183 [GRCh38]
Chr9:97869465 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1108C>T (p.His370Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947945] Chr9:95114675 [GRCh38]
Chr9:97876957 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.196A>G (p.Thr66Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947955] Chr9:95247486 [GRCh38]
Chr9:98009768 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1443T>A (p.Ala481=) single nucleotide variant not provided [RCV005001498] Chr9:95107156 [GRCh38]
Chr9:97869438 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.566C>T (p.Pro189Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947920] Chr9:95150043 [GRCh38]
Chr9:97912325 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1659G>T (p.Glu553Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947933] Chr9:95101725 [GRCh38]
Chr9:97864007 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.602A>T (p.Glu201Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947937] Chr9:95150007 [GRCh38]
Chr9:97912289 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1119A>G (p.Glu373=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947948] Chr9:95114664 [GRCh38]
Chr9:97876946 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.268C>G (p.Leu90Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947923] Chr9:95240726 [GRCh38]
Chr9:98003008 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1180T>C (p.Trp394Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947928] Chr9:95111612 [GRCh38]
Chr9:97873894 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1424C>T (p.Thr475Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947929] Chr9:95107175 [GRCh38]
Chr9:97869457 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.684G>C (p.Leu228Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947930] Chr9:95149925 [GRCh38]
Chr9:97912207 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.347G>T (p.Gly116Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947947] Chr9:95172146 [GRCh38]
Chr9:97934428 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.596del (p.Leu199fs) deletion Hereditary cancer-predisposing syndrome [RCV004947952] Chr9:95150013 [GRCh38]
Chr9:97912295 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.346G>A (p.Gly116Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947953] Chr9:95172147 [GRCh38]
Chr9:97934429 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.323C>T (p.Ser108Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947964] Chr9:95240671 [GRCh38]
Chr9:98002953 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.599T>C (p.Val200Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947975] Chr9:95150010 [GRCh38]
Chr9:97912292 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1549G>C (p.Glu517Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947919] Chr9:95101835 [GRCh38]
Chr9:97864117 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.465A>G (p.Leu155=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947922] Chr9:95171135 [GRCh38]
Chr9:97933417 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1434C>A (p.Asp478Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947946] Chr9:95107165 [GRCh38]
Chr9:97869447 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.468A>T (p.Ser156=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947949] Chr9:95171132 [GRCh38]
Chr9:97933414 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.969A>G (p.Val323=) single nucleotide variant Fanconi anemia [RCV005110246]|Hereditary cancer-predisposing syndrome [RCV004947965] Chr9:95125113 [GRCh38]
Chr9:97887395 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1368G>C (p.Met456Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947973] Chr9:95107231 [GRCh38]
Chr9:97869513 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.237T>C (p.Phe79=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947950] Chr9:95247445 [GRCh38]
Chr9:98009727 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1062A>G (p.Gln354=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947957] Chr9:95117325 [GRCh38]
Chr9:97879607 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.325A>G (p.Lys109Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947960] Chr9:95240669 [GRCh38]
Chr9:98002951 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1429A>T (p.Thr477Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947966] Chr9:95107170 [GRCh38]
Chr9:97869452 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.490A>G (p.Asn164Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947981] Chr9:95171110 [GRCh38]
Chr9:97933392 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1320A>G (p.Ala440=) single nucleotide variant not provided [RCV005001497] Chr9:95111472 [GRCh38]
Chr9:97873754 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.457-11T>G single nucleotide variant Fanconi anemia [RCV005195575] Chr9:95171154 [GRCh38]
Chr9:97933436 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1017C>G (p.Thr339=) single nucleotide variant Fanconi anemia [RCV005060106] Chr9:95117370 [GRCh38]
Chr9:97879652 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.653A>T (p.Glu218Val) single nucleotide variant Fanconi anemia [RCV005195129] Chr9:95149956 [GRCh38]
Chr9:97912238 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.166-10T>A single nucleotide variant Fanconi anemia [RCV005086698] Chr9:95247526 [GRCh38]
Chr9:98009808 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1067C>T (p.Pro356Leu) single nucleotide variant Fanconi anemia [RCV005136838] Chr9:95117320 [GRCh38]
Chr9:97879602 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1154+17C>G single nucleotide variant Fanconi anemia [RCV005082008] Chr9:95114612 [GRCh38]
Chr9:97876894 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.456+18A>G single nucleotide variant Fanconi anemia [RCV005069096] Chr9:95172019 [GRCh38]
Chr9:97934301 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.503del (p.Gly168fs) deletion Fanconi anemia [RCV005119297] Chr9:95171097 [GRCh38]
Chr9:97933379 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.282A>G (p.Leu94=) single nucleotide variant Fanconi anemia [RCV005118202] Chr9:95240712 [GRCh38]
Chr9:98002994 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.22C>T (p.Leu8Phe) single nucleotide variant Fanconi anemia [RCV005143207] Chr9:95249270 [GRCh38]
Chr9:98011552 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1650_1656del (p.Leu551fs) deletion Fanconi anemia [RCV005138481] Chr9:95101728..95101734 [GRCh38]
Chr9:97864010..97864016 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.295A>G (p.Asn99Asp) single nucleotide variant Fanconi anemia [RCV005144035] Chr9:95240699 [GRCh38]
Chr9:98002981 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.261A>G (p.Gln87=) single nucleotide variant Fanconi anemia [RCV005185120] Chr9:95240733 [GRCh38]
Chr9:98003015 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.345+5G>A single nucleotide variant Fanconi anemia [RCV005193692] Chr9:95240644 [GRCh38]
Chr9:98002926 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.702C>G (p.Leu234=) single nucleotide variant Fanconi anemia [RCV005116779] Chr9:95135487 [GRCh38]
Chr9:97897769 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.163A>T (p.Met55Leu) single nucleotide variant Fanconi anemia [RCV005186357] Chr9:95249129 [GRCh38]
Chr9:98011411 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.799_800del (p.Asn267fs) deletion Fanconi anemia [RCV005149097] Chr9:95135389..95135390 [GRCh38]
Chr9:97897671..97897672 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.996+15A>G single nucleotide variant Fanconi anemia [RCV005115240] Chr9:95125071 [GRCh38]
Chr9:97887353 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1263C>T (p.Ala421=) single nucleotide variant Fanconi anemia [RCV005120735] Chr9:95111529 [GRCh38]
Chr9:97873811 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.954dup (p.Thr319fs) duplication Fanconi anemia [RCV005083417] Chr9:95125127..95125128 [GRCh38]
Chr9:97887409..97887410 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.897-12T>C single nucleotide variant Fanconi anemia [RCV005206495] Chr9:95125197 [GRCh38]
Chr9:97887479 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.522-12T>C single nucleotide variant Fanconi anemia [RCV005122589] Chr9:95150099 [GRCh38]
Chr9:97912381 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.991A>T (p.Lys331Ter) single nucleotide variant Fanconi anemia [RCV005126101] Chr9:95125091 [GRCh38]
Chr9:97887373 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000136.3(FANCC):c.484A>G (p.Arg162Gly) single nucleotide variant Fanconi anemia [RCV005148312] Chr9:95171116 [GRCh38]
Chr9:97933398 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.382G>C (p.Asp128His) single nucleotide variant Fanconi anemia [RCV005123446] Chr9:95172111 [GRCh38]
Chr9:97934393 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.1648C>T (p.Leu550Phe) single nucleotide variant Fanconi anemia [RCV005181868] Chr9:95101736 [GRCh38]
Chr9:97864018 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000136.3(FANCC):c.324A>G (p.Ser108=) single nucleotide variant Fanconi anemia [RCV005154452] Chr9:95240670 [GRCh38]
Chr9:98002952 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1293C>G (p.Gly431=) single nucleotide variant Fanconi anemia [RCV005184467] Chr9:95111499 [GRCh38]
Chr9:97873781 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000136.3(FANCC):c.1117G>C (p.Glu373Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003356266] Chr9:95114666 [GRCh38]
Chr9:97876948 [GRCh37]
Chr9:9q22.32		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3519
Count of miRNA genes:1105
Interacting mature miRNAs:1350
Transcripts:ENST00000289081, ENST00000375305, ENST00000433829, ENST00000464627, ENST00000464653, ENST00000474949, ENST00000477942, ENST00000480712, ENST00000490972, ENST00000493098
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597616334GWAS1673194_Hcongenital anomaly of cardiovascular system QTL GWAS1673194 (human)3e-11congenital anomaly of cardiovascular system99526671295266713Human
597326682GWAS1422756_Hcolor vision disorder QTL GWAS1422756 (human)0.000002color vision disorder99529174695291747Human
597435549GWAS1531623_Hatrial fibrillation QTL GWAS1531623 (human)3e-15atrial fibrillation99512958795129588Human
597054756GWAS1150830_Hhematocrit QTL GWAS1150830 (human)1e-11hematocrithematocrit (CMO:0000037)99517336495173365Human
597340472GWAS1436546_Hcartilage thickness measurement QTL GWAS1436546 (human)2e-08cartilage morphology trait (VT:0000163)99522038795220388Human
406980932GWAS629908_Hhematocrit QTL GWAS629908 (human)8e-10hematocrithematocrit (CMO:0000037)99517336495173365Human
597164351GWAS1260425_HAntithrombotic agent use measurement QTL GWAS1260425 (human)1e-08Antithrombotic agent use measurement99513262595132626Human
597500212GWAS1596286_Hjuvenile dermatomyositis QTL GWAS1596286 (human)0.0000002juvenile dermatomyositis99529235895292359Human
597532806GWAS1628880_Hatrial fibrillation QTL GWAS1628880 (human)2e-23atrial fibrillation99512958795129588Human
597532800GWAS1628874_Hatrial fibrillation QTL GWAS1628874 (human)9e-44atrial fibrillation99512958795129588Human
597202101GWAS1298175_Hlean body mass QTL GWAS1298175 (human)1e-09body lean mass (VT:0010483)total body lean mass (CMO:0003950)99521585695215857Human

Markers in Region
SGC35427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,863,692 - 97,863,902UniSTSGRCh37
Build 36996,903,513 - 96,903,723RGDNCBI36
Celera968,304,723 - 68,304,933RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,473,213 - 67,473,423UniSTS
GeneMap99-GB4 RH Map9306.92UniSTS
Whitehead-RH Map9349.5UniSTS
NCBI RH Map9814.5UniSTS
U57800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37998,042,498 - 98,042,599UniSTSGRCh37
Build 36997,082,319 - 97,082,420RGDNCBI36
Celera968,483,556 - 68,483,657RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,651,783 - 67,651,884UniSTS
D16S2944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371681,078,534 - 81,078,733UniSTSGRCh37
GRCh37998,057,051 - 98,057,250UniSTSGRCh37
Build 36997,096,872 - 97,097,071RGDNCBI36
Celera1665,376,929 - 65,377,128UniSTS
Celera968,498,106 - 68,498,305RGD
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q22.32UniSTS
HuRef1666,835,421 - 66,835,620UniSTS
HuRef967,666,335 - 67,666,534UniSTS
GeneMap99-GB4 RH Map16463.98UniSTS
Whitehead-RH Map16329.9UniSTS
RH98839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,940,580 - 97,940,764UniSTSGRCh37
Build 36996,980,401 - 96,980,585RGDNCBI36
Celera968,381,617 - 68,381,801RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,550,117 - 67,550,301UniSTS
GeneMap99-GB4 RH Map9309.06UniSTS
RH119536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,989,633 - 97,989,924UniSTSGRCh37
Build 36997,029,454 - 97,029,745RGDNCBI36
Celera968,430,667 - 68,430,958RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,598,981 - 67,599,272UniSTS
TNG Radiation Hybrid Map936811.0UniSTS
G59803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,907,558 - 97,907,665UniSTSGRCh37
Build 36996,947,379 - 96,947,486RGDNCBI36
Celera968,348,589 - 68,348,696RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,517,076 - 67,517,183UniSTS
TNG Radiation Hybrid Map935352.0UniSTS
D9S1775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37998,057,086 - 98,057,214UniSTSGRCh37
GRCh371681,078,569 - 81,078,697UniSTSGRCh37
Build 36997,096,907 - 97,097,035RGDNCBI36
Celera968,498,141 - 68,498,269RGD
Celera1665,376,964 - 65,377,092UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q22.3UniSTS
HuRef967,666,370 - 67,666,498UniSTS
HuRef1666,835,456 - 66,835,584UniSTS
GDB:677129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37998,079,429 - 98,079,841UniSTSGRCh37
Build 36997,119,250 - 97,119,662RGDNCBI36
Celera968,520,486 - 68,520,898RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,688,718 - 67,689,130UniSTS
SHGC-110746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,994,012 - 97,994,167UniSTSGRCh37
Build 36997,033,833 - 97,033,988RGDNCBI36
Celera968,435,045 - 68,435,200RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,603,359 - 67,603,514UniSTS
TNG Radiation Hybrid Map936822.0UniSTS
203WH8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37998,073,869 - 98,074,051UniSTSGRCh37
Build 36997,113,690 - 97,113,872RGDNCBI36
Celera968,514,926 - 68,515,108RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,683,158 - 67,683,340UniSTS
Whitehead-YAC Contig Map9 UniSTS
STS-X66893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,861,417 - 97,861,608UniSTSGRCh37
Build 36996,901,238 - 96,901,429RGDNCBI36
Celera968,302,448 - 68,302,639RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,470,938 - 67,471,129UniSTS
GeneMap99-GB4 RH Map9306.92UniSTS
WI-18181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,907,558 - 97,907,698UniSTSGRCh37
Build 36996,947,379 - 96,947,519RGDNCBI36
Celera968,348,589 - 68,348,729RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,517,076 - 67,517,216UniSTS
GeneMap99-GB4 RH Map9306.92UniSTS
Whitehead-RH Map9350.0UniSTS
NCBI RH Map9814.5UniSTS
STS-H94332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,884,593 - 97,884,719UniSTSGRCh37
Build 36996,924,414 - 96,924,540RGDNCBI36
Celera968,325,630 - 68,325,756RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,494,111 - 67,494,237UniSTS
GeneMap99-GB4 RH Map9309.06UniSTS
NCBI RH Map9813.2UniSTS
D9S1958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,952,543 - 97,952,691UniSTSGRCh37
Build 36996,992,364 - 96,992,512RGDNCBI36
Celera968,393,584 - 68,393,732RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,562,070 - 67,562,218UniSTS
Stanford-G3 RH Map93276.0UniSTS
NCBI RH Map9814.5UniSTS
GeneMap99-G3 RH Map93174.0UniSTS
SGC44362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,861,495 - 97,861,657UniSTSGRCh37
Build 36996,901,316 - 96,901,478RGDNCBI36
Celera968,302,526 - 68,302,688RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,471,016 - 67,471,178UniSTS
GeneMap99-GB4 RH Map9306.92UniSTS
Whitehead-RH Map9349.5UniSTS
NCBI RH Map9814.5UniSTS
WI-11677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,951,498 - 97,951,628UniSTSGRCh37
Build 36996,991,319 - 96,991,449RGDNCBI36
Celera968,392,539 - 68,392,669RGD
Cytogenetic Map9q22.3UniSTS
HuRef967,561,025 - 67,561,155UniSTS
GeneMap99-GB4 RH Map9309.11UniSTS
Whitehead-RH Map9352.1UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
GDB:207703  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q22.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2438 2788 2247 4953 1725 2351 5 622 1948 465 2268 7293 6460 52 3719 850 1739 1616 173

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF086119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI280997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY220878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB052780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB445119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000289081   ⟹   ENSP00000289081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,099,054 - 95,317,709 (-)Ensembl
Ensembl Acc Id: ENST00000375305   ⟹   ENSP00000364454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,099,055 - 95,317,254 (-)Ensembl
Ensembl Acc Id: ENST00000433644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,414,834 - 95,426,796 (-)Ensembl
Ensembl Acc Id: ENST00000433829   ⟹   ENSP00000406908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,172,043 - 95,316,894 (-)Ensembl
Ensembl Acc Id: ENST00000464627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,107,101 - 95,126,918 (-)Ensembl
Ensembl Acc Id: ENST00000464653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,114,135 - 95,127,420 (-)Ensembl
Ensembl Acc Id: ENST00000474949   ⟹   ENSP00000497729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,171,116 - 95,317,709 (-)Ensembl
Ensembl Acc Id: ENST00000477942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,109,597 - 95,135,543 (-)Ensembl
Ensembl Acc Id: ENST00000480712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,107,348 - 95,135,373 (-)Ensembl
Ensembl Acc Id: ENST00000490972   ⟹   ENSP00000479931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,110,512 - 95,317,671 (-)Ensembl
Ensembl Acc Id: ENST00000493098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,145,270 - 95,150,033 (-)Ensembl
Ensembl Acc Id: ENST00000636777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,150,015 - 95,426,742 (-)Ensembl
Ensembl Acc Id: ENST00000647778   ⟹   ENSP00000498125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,171,140 - 95,317,677 (-)Ensembl
Ensembl Acc Id: ENST00000647882   ⟹   ENSP00000497025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,172,086 - 95,316,884 (-)Ensembl
Ensembl Acc Id: ENST00000648415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,205,950 - 95,316,152 (-)Ensembl
Ensembl Acc Id: ENST00000649334   ⟹   ENSP00000497735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,101,710 - 95,249,291 (-)Ensembl
Ensembl Acc Id: ENST00000649519   ⟹   ENSP00000497630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,185,190 - 95,254,364 (-)Ensembl
Ensembl Acc Id: ENST00000649611   ⟹   ENSP00000497986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,247,507 - 95,317,691 (-)Ensembl
Ensembl Acc Id: ENST00000649701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,132,895 - 95,240,708 (-)Ensembl
Ensembl Acc Id: ENST00000649872   ⟹   ENSP00000497195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,234,672 - 95,249,291 (-)Ensembl
Ensembl Acc Id: ENST00000650176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,186,531 - 95,316,933 (-)Ensembl
Ensembl Acc Id: ENST00000696260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,099,200 - 95,113,606 (-)Ensembl
Ensembl Acc Id: ENST00000696261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,133,923 - 95,317,693 (-)Ensembl
Ensembl Acc Id: ENST00000696262   ⟹   ENSP00000512510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,238,590 - 95,317,715 (-)Ensembl
Ensembl Acc Id: ENST00000696263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl995,248,710 - 95,317,702 (-)Ensembl
RefSeq Acc Id: NM_000136   ⟹   NP_000127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,317,709 (-)NCBI
GRCh37997,861,336 - 98,079,991 (-)NCBI
Build 36996,901,157 - 97,119,812 (-)NCBI Archive
HuRef967,470,857 - 67,689,280 (-)ENTREZGENE
CHM1_1998,007,791 - 98,226,463 (-)NCBI
T2T-CHM13v2.09107,268,451 - 107,487,223 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243743   ⟹   NP_001230672
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,317,254 (-)NCBI
GRCh37997,861,336 - 98,079,991 (-)NCBI
HuRef967,470,857 - 67,689,280 (-)NCBI
CHM1_1998,007,791 - 98,226,008 (-)NCBI
T2T-CHM13v2.09107,268,451 - 107,486,768 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243744   ⟹   NP_001230673
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,110,226 - 95,317,709 (-)NCBI
GRCh37997,861,336 - 98,079,991 (-)NCBI
HuRef967,470,857 - 67,689,280 (-)NCBI
CHM1_1998,018,963 - 98,226,463 (-)NCBI
T2T-CHM13v2.09107,279,622 - 107,487,223 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251802   ⟹   XP_005251859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,143,936 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717001   ⟹   XP_006717064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,317,709 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717002   ⟹   XP_006717065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,107,321 - 95,317,709 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717004   ⟹   XP_006717067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,111,529 - 95,317,709 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518365   ⟹   XP_011516667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,268,859 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518366   ⟹   XP_011516668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,110,505 - 95,317,709 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447451   ⟹   XP_024303219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,316,899 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422948   ⟹   XP_047278904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,293,004 (-)NCBI
RefSeq Acc Id: XM_047422949   ⟹   XP_047278905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,278,721 (-)NCBI
RefSeq Acc Id: XM_047422950   ⟹   XP_047278906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,316,899 (-)NCBI
RefSeq Acc Id: XM_047422951   ⟹   XP_047278907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,317,254 (-)NCBI
RefSeq Acc Id: XM_047422952   ⟹   XP_047278908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,293,004 (-)NCBI
RefSeq Acc Id: XM_047422953   ⟹   XP_047278909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,110,226 - 95,316,899 (-)NCBI
RefSeq Acc Id: XM_047422954   ⟹   XP_047278910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,110,226 - 95,317,254 (-)NCBI
RefSeq Acc Id: XM_047422955   ⟹   XP_047278911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,110,505 - 95,316,899 (-)NCBI
RefSeq Acc Id: XM_047422956   ⟹   XP_047278912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,110,226 - 95,317,709 (-)NCBI
RefSeq Acc Id: XM_047422957   ⟹   XP_047278913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,189,891 (-)NCBI
RefSeq Acc Id: XM_047422958   ⟹   XP_047278914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,099,054 - 95,189,891 (-)NCBI
RefSeq Acc Id: XM_047422959   ⟹   XP_047278915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,111,529 - 95,316,899 (-)NCBI
RefSeq Acc Id: XM_054362310   ⟹   XP_054218285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,440,241 (-)NCBI
RefSeq Acc Id: XM_054362311   ⟹   XP_054218286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,462,515 (-)NCBI
RefSeq Acc Id: XM_054362312   ⟹   XP_054218287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,486,779 (-)NCBI
RefSeq Acc Id: XM_054362313   ⟹   XP_054218288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,448,475 (-)NCBI
RefSeq Acc Id: XM_054362314   ⟹   XP_054218289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,487,223 (-)NCBI
RefSeq Acc Id: XM_054362315   ⟹   XP_054218290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,486,717 (-)NCBI
RefSeq Acc Id: XM_054362316   ⟹   XP_054218291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,486,768 (-)NCBI
RefSeq Acc Id: XM_054362317   ⟹   XP_054218292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,462,515 (-)NCBI
RefSeq Acc Id: XM_054362318   ⟹   XP_054218293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,279,622 - 107,486,613 (-)NCBI
RefSeq Acc Id: XM_054362319   ⟹   XP_054218294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,279,622 - 107,486,768 (-)NCBI
RefSeq Acc Id: XM_054362320   ⟹   XP_054218295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,276,716 - 107,487,223 (-)NCBI
RefSeq Acc Id: XM_054362321   ⟹   XP_054218296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,279,901 - 107,487,223 (-)NCBI
RefSeq Acc Id: XM_054362322   ⟹   XP_054218297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,279,901 - 107,486,608 (-)NCBI
RefSeq Acc Id: XM_054362323   ⟹   XP_054218298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,279,622 - 107,487,223 (-)NCBI
RefSeq Acc Id: XM_054362324   ⟹   XP_054218299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,356,065 (-)NCBI
RefSeq Acc Id: XM_054362325   ⟹   XP_054218300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,280,925 - 107,487,223 (-)NCBI
RefSeq Acc Id: XM_054362326   ⟹   XP_054218301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,280,925 - 107,486,613 (-)NCBI
RefSeq Acc Id: XM_054362327   ⟹   XP_054218302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09107,268,451 - 107,315,638 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000127 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230672 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230673 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251859 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717064 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717065 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717067 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516667 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516668 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303219 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278904 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278905 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278906 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278907 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278908 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278909 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278910 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278911 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278912 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278913 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278914 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278915 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218288 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218289 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218290 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218291 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218292 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218293 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218294 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218295 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218296 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218297 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218298 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218299 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218300 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218301 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218302 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA53104 (Get FASTA)   NCBI Sequence Viewer  
  AAH15748 (Get FASTA)   NCBI Sequence Viewer  
  AAO26042 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33509 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33510 (Get FASTA)   NCBI Sequence Viewer  
  BAG65624 (Get FASTA)   NCBI Sequence Viewer  
  CAA47347 (Get FASTA)   NCBI Sequence Viewer  
  CAA47348 (Get FASTA)   NCBI Sequence Viewer  
  EAW92626 (Get FASTA)   NCBI Sequence Viewer  
  EAW92627 (Get FASTA)   NCBI Sequence Viewer  
  EAW92628 (Get FASTA)   NCBI Sequence Viewer  
  EAW92629 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000289081
  ENSP00000289081.3
  ENSP00000364454
  ENSP00000364454.1
  ENSP00000406908.1
  ENSP00000479931
  ENSP00000479931.1
  ENSP00000497025.1
  ENSP00000497195.1
  ENSP00000497630.1
  ENSP00000497729.1
  ENSP00000497735.1
  ENSP00000497986.1
  ENSP00000498125.1
  ENSP00000512510.1
GenBank Protein Q00597 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000127   ⟸   NM_000136
- Peptide Label: isoform a
- UniProtKB: B1ALR8 (UniProtKB/Swiss-Prot),   Q00597 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230672   ⟸   NM_001243743
- Peptide Label: isoform a
- UniProtKB: B1ALR8 (UniProtKB/Swiss-Prot),   Q00597 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230673   ⟸   NM_001243744
- Peptide Label: isoform b
- UniProtKB: A0A087WW44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251859   ⟸   XM_005251802
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_006717064   ⟸   XM_006717001
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006717065   ⟸   XM_006717002
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006717067   ⟸   XM_006717004
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011516667   ⟸   XM_011518365
- Peptide Label: isoform X1
- UniProtKB: B1ALR8 (UniProtKB/Swiss-Prot),   Q00597 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516668   ⟸   XM_011518366
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024303219   ⟸   XM_024447451
- Peptide Label: isoform X1
- UniProtKB: Q00597 (UniProtKB/Swiss-Prot),   B1ALR8 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497630   ⟸   ENST00000649519
Ensembl Acc Id: ENSP00000497735   ⟸   ENST00000649334
Ensembl Acc Id: ENSP00000497195   ⟸   ENST00000649872
Ensembl Acc Id: ENSP00000497986   ⟸   ENST00000649611
Ensembl Acc Id: ENSP00000479931   ⟸   ENST00000490972
Ensembl Acc Id: ENSP00000364454   ⟸   ENST00000375305
Ensembl Acc Id: ENSP00000289081   ⟸   ENST00000289081
Ensembl Acc Id: ENSP00000406908   ⟸   ENST00000433829
Ensembl Acc Id: ENSP00000497729   ⟸   ENST00000474949
Ensembl Acc Id: ENSP00000498125   ⟸   ENST00000647778
Ensembl Acc Id: ENSP00000497025   ⟸   ENST00000647882
Ensembl Acc Id: ENSP00000512510   ⟸   ENST00000696262
RefSeq Acc Id: XP_047278907   ⟸   XM_047422951
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047278906   ⟸   XM_047422950
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047278908   ⟸   XM_047422952
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047278904   ⟸   XM_047422948
- Peptide Label: isoform X1
- UniProtKB: Q00597 (UniProtKB/Swiss-Prot),   B1ALR8 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278905   ⟸   XM_047422949
- Peptide Label: isoform X1
- UniProtKB: Q00597 (UniProtKB/Swiss-Prot),   B1ALR8 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278914   ⟸   XM_047422958
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047278913   ⟸   XM_047422957
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047278912   ⟸   XM_047422956
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047278910   ⟸   XM_047422954
- Peptide Label: isoform X3
- UniProtKB: A0A087WW44 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278909   ⟸   XM_047422953
- Peptide Label: isoform X3
- UniProtKB: A0A087WW44 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278911   ⟸   XM_047422955
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047278915   ⟸   XM_047422959
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054218289   ⟸   XM_054362314
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218287   ⟸   XM_054362312
- Peptide Label: isoform X1
- UniProtKB: B1ALR8 (UniProtKB/Swiss-Prot),   Q00597 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218291   ⟸   XM_054362316
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218290   ⟸   XM_054362315
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218292   ⟸   XM_054362317
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218286   ⟸   XM_054362311
- Peptide Label: isoform X1
- UniProtKB: B1ALR8 (UniProtKB/Swiss-Prot),   Q00597 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218288   ⟸   XM_054362313
- Peptide Label: isoform X1
- UniProtKB: B1ALR8 (UniProtKB/Swiss-Prot),   Q00597 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218285   ⟸   XM_054362310
- Peptide Label: isoform X1
- UniProtKB: B1ALR8 (UniProtKB/Swiss-Prot),   Q00597 (UniProtKB/Swiss-Prot),   A0A024R9N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218299   ⟸   XM_054362324
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054218302   ⟸   XM_054362327
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054218295   ⟸   XM_054362320
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218298   ⟸   XM_054362323
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054218294   ⟸   XM_054362319
- Peptide Label: isoform X3
- UniProtKB: A0A087WW44 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218293   ⟸   XM_054362318
- Peptide Label: isoform X3
- UniProtKB: A0A087WW44 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218296   ⟸   XM_054362321
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218297   ⟸   XM_054362322
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218300   ⟸   XM_054362325
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054218301   ⟸   XM_054362326
- Peptide Label: isoform X8

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q00597-F1-model_v2 AlphaFold Q00597 1-558 view protein structure

Promoters
RGD ID:7215551
Promoter ID:EPDNEW_H13522
Type:initiation region
Name:FANCC_2
Description:Fanconi anemia complementation group C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13523  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,317,254 - 95,317,314EPDNEW
RGD ID:7215553
Promoter ID:EPDNEW_H13523
Type:initiation region
Name:FANCC_1
Description:Fanconi anemia complementation group C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13522  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38995,317,709 - 95,317,769EPDNEW
RGD ID:6807681
Promoter ID:HG_KWN:64154
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000053221,   OTTHUMT00000053224,   OTTHUMT00000053225
Position:
Human AssemblyChrPosition (strand)Source
Build 36996,929,546 - 96,930,046 (-)MPROMDB
RGD ID:6807680
Promoter ID:HG_KWN:64160
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375305,   NM_000136,   OTTHUMT00000053222,   OTTHUMT00000053223,   UC004AVI.2,   UC010MRM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36997,119,386 - 97,120,027 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3584 AgrOrtholog
COSMIC FANCC COSMIC
Ensembl Genes ENSG00000158169 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000289081 ENTREZGENE
  ENST00000289081.8 UniProtKB/Swiss-Prot
  ENST00000375305 ENTREZGENE
  ENST00000375305.6 UniProtKB/Swiss-Prot
  ENST00000433829.1 UniProtKB/TrEMBL
  ENST00000474949.1 UniProtKB/TrEMBL
  ENST00000490972 ENTREZGENE
  ENST00000490972.7 UniProtKB/TrEMBL
  ENST00000647778.1 UniProtKB/TrEMBL
  ENST00000647882.1 UniProtKB/TrEMBL
  ENST00000649334.1 UniProtKB/TrEMBL
  ENST00000649519.1 UniProtKB/TrEMBL
  ENST00000649611.1 UniProtKB/TrEMBL
  ENST00000649872.1 UniProtKB/TrEMBL
  ENST00000696262.1 UniProtKB/TrEMBL
GTEx ENSG00000158169 GTEx
HGNC ID HGNC:3584 ENTREZGENE
Human Proteome Map FANCC Human Proteome Map
InterPro FANCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2176 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2176 ENTREZGENE
OMIM 613899 OMIM
PANTHER FANCONI ANEMIA GROUP C PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16798 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fanconi_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27997 PharmGKB
PIRSF FACC_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS FANCONICGENE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9N2 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WW44 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3N5_HUMAN UniProtKB/TrEMBL
  A0A3B3IS26_HUMAN UniProtKB/TrEMBL
  A0A3B3IS92_HUMAN UniProtKB/TrEMBL
  A0A3B3ITN9_HUMAN UniProtKB/TrEMBL
  A0A3B3IU87_HUMAN UniProtKB/TrEMBL
  A0A8Q3WM43_HUMAN UniProtKB/TrEMBL
  B1ALR7_HUMAN UniProtKB/TrEMBL
  B1ALR8 ENTREZGENE
  B4E3W2_HUMAN UniProtKB/TrEMBL
  FANCC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B1ALR8 UniProtKB/Swiss-Prot


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