FANCA (FA complementation group A) - Rat Genome Database

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Gene: FANCA (FA complementation group A) Homo sapiens
Analyze
Symbol: FANCA
Name: FA complementation group A
RGD ID: 1322810
HGNC Page HGNC:3582
Description: Predicted to be involved in regulation of regulatory T cell differentiation. Predicted to act upstream of or within several processes, including gonad development; regulation of CD40 signaling pathway; and regulation of germ cell proliferation. Located in chromatin and nucleoplasm. Part of Fanconi anaemia nuclear complex. Implicated in several diseases, including Fanconi anemia (multiple); acute myeloid leukemia; esophagus squamous cell carcinoma; ovarian disease (multiple); and skin melanoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FA; FA-H; FA1; FAA; FACA; FAH; FANCH; Fanconi anemia complementation group A; Fanconi anemia group A protein; Fanconi anemia, complementation group A; Fanconi anemia, complementation group H; Fanconi anemia, type 1; MGC75158
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381689,737,549 - 89,816,647 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1689,726,683 - 89,816,977 (-)EnsemblGRCh38hg38GRCh38
GRCh371689,803,957 - 89,883,055 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361688,331,460 - 88,410,566 (-)NCBINCBI36Build 36hg18NCBI36
Build 341688,331,459 - 88,410,555NCBI
Celera1674,868,202 - 74,947,293 (-)NCBICelera
Cytogenetic Map16q24.3NCBI
HuRef1675,499,171 - 75,578,023 (-)NCBIHuRef
CHM1_11691,215,162 - 91,294,341 (-)NCBICHM1_1
T2T-CHM13v2.01695,822,301 - 95,901,198 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
furan  (ISO)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
menadione  (EXP)
methimazole  (ISO)
monocrotaline  (EXP)
N(4)-hydroxycytidine  (ISO)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
resveratrol  (EXP,ISO)
riddelliine  (EXP)
rotenone  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IDA)
cytoplasm  (IEA,TAS)
cytosol  (TAS)
Fanconi anaemia nuclear complex  (IBA,IDA,IEA,NAS)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,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 cardiovascular system morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal preputium morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Absent radius  (IAGP)
Absent testis  (IAGP)
Absent thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Anemic pallor  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Arteriovenous malformation  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Breast carcinoma  (IAGP)
Bruising susceptibility  (IAGP)
Cafe-au-lait spot  (IAGP)
Cataract  (IAGP)
Choanal atresia  (IAGP)
Chromosomal breakage induced by crosslinking agents  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Complete duplication of thumb phalanx  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in males  (IAGP)
Deficient excision of UV-induced pyrimidine dimers in DNA  (IAGP)
Dolichocephaly  (IAGP)
Duodenal stenosis  (IAGP)
Duplicated collecting system  (IAGP)
Ectopic kidney  (IAGP)
Epicanthus  (IAGP)
Facial asymmetry  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Hearing impairment  (IAGP)
Hepatoblastoma  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Leukemia  (IAGP)
Leukopenia  (IAGP)
Male infertility  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Neoplasm  (IAGP)
Neuroblastoma  (IAGP)
Neurodevelopmental abnormality  (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)
Prostate cancer  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Reticulocytopenia  (IAGP)
Scoliosis  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Sloping forehead  (IAGP)
Small for gestational age  (IAGP)
Spina bifida  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutations in Fanconi anemia genes and the risk of esophageal cancer. Akbari MR, etal., Hum Genet. 2011 May;129(5):573-82. doi: 10.1007/s00439-011-0951-7. Epub 2011 Jan 30.
2. Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. Bouchlaka C, etal., J Hum Genet. 2003;48(7):352-61. Epub 2003 Jun 24.
3. Mice with a targeted disruption of the Fanconi anemia homolog Fanca. Cheng NC, etal., Hum Mol Genet. 2000 Jul 22;9(12):1805-11.
4. 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.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility. Juko-Pecirep I, etal., Gynecol Oncol. 2011 Aug;122(2):377-81. doi: 10.1016/j.ygyno.2011.04.014. Epub 2011 May 4.
7. 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.
8. Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. Litim N, etal., Mol Oncol. 2013 Feb;7(1):85-100. doi: 10.1016/j.molonc.2012.08.002. Epub 2012 Sep 11.
9. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. Michiels S, etal., Carcinogenesis. 2009 May;30(5):763-8. doi: 10.1093/carcin/bgp046. Epub 2009 Feb 23.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. Polymorphisms within the FANCA gene associate with premature ovarian failure in Korean women. Pyun JA, etal., Menopause. 2014 May;21(5):530-3. doi: 10.1097/GME.0b013e3182a4323e.
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. Genetics of the FANCA gene in familial pancreatic cancer. Rogers CD, etal., J Med Genet. 2004 Dec;41(12):e126.
16. A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer. Thompson E, etal., BMC Cancer. 2005 Apr 29;5:43.
17. Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia. Tischkowitz MD, etal., Leukemia. 2004 Mar;18(3):420-5.
18. Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer. Wang SS, etal., J Infect Dis. 2009 Jan 1;199(1):20-30. doi: 10.1086/595563.
19. Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. Yagasaki H, etal., Hum Mutat. 2004 Dec;24(6):481-90.
20. Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. Yin J, etal., J Invest Dermatol. 2015 Feb;135(2):542-50. doi: 10.1038/jid.2014.416. Epub 2014 Sep 22.
Additional References at PubMed
PMID:7581462   PMID:8755924   PMID:8896563   PMID:9169126   PMID:9371798   PMID:9382107   PMID:9398857   PMID:9399890   PMID:9711872   PMID:9721219   PMID:9742112   PMID:9789045  
PMID:9929978   PMID:10094191   PMID:10210316   PMID:10373536   PMID:10468603   PMID:10468606   PMID:10521298   PMID:10551855   PMID:10567393   PMID:10600472   PMID:10627486   PMID:10652215  
PMID:10807541   PMID:10936049   PMID:10936108   PMID:10961856   PMID:11050007   PMID:11063725   PMID:11091222   PMID:11157805   PMID:11161829   PMID:11167740   PMID:11181053   PMID:11297559  
PMID:11344308   PMID:11401546   PMID:11438206   PMID:11726552   PMID:11739169   PMID:11750104   PMID:11855836   PMID:12031647   PMID:12093742   PMID:12210728   PMID:12239156   PMID:12354784  
PMID:12384774   PMID:12444097   PMID:12477932   PMID:12571280   PMID:12637330   PMID:12649160   PMID:12692539   PMID:12724401   PMID:12955722   PMID:12973351   PMID:14499622   PMID:14630800  
PMID:14697762   PMID:15059067   PMID:15082718   PMID:15138265   PMID:15192709   PMID:15256425   PMID:15262960   PMID:15299017   PMID:15299030   PMID:15367677   PMID:15489334   PMID:15502827  
PMID:15790592   PMID:15917947   PMID:16116422   PMID:16116434   PMID:16189514   PMID:16474167   PMID:16621732   PMID:16720839   PMID:16751776   PMID:16889989   PMID:16946016   PMID:17082180  
PMID:17289582   PMID:17396147   PMID:17474147   PMID:17671210   PMID:18056155   PMID:18174376   PMID:18212739   PMID:18224251   PMID:18270339   PMID:18285517   PMID:18457264   PMID:18550849  
PMID:18676680   PMID:18950845   PMID:19015634   PMID:19064572   PMID:19109555   PMID:19170196   PMID:19321451   PMID:19490893   PMID:19491337   PMID:19625176   PMID:19690177   PMID:19692168  
PMID:19714462   PMID:19779646   PMID:19913121   PMID:19965384   PMID:19995904   PMID:20064461   PMID:20301575   PMID:20301753   PMID:20347428   PMID:20347429   PMID:20425471   PMID:20450923  
PMID:20453000   PMID:20496165   PMID:20518497   PMID:20585627   PMID:20628086   PMID:20800603   PMID:20864535   PMID:20937699   PMID:21109493   PMID:21236561   PMID:21240188   PMID:21273304  
PMID:21490707   PMID:21873635   PMID:21975120   PMID:22194614   PMID:22266823   PMID:22343915   PMID:22396592   PMID:22561518   PMID:22653977   PMID:22705371   PMID:23067021   PMID:23303816  
PMID:23509288   PMID:23806870   PMID:23824729   PMID:23898106   PMID:24046015   PMID:24349332   PMID:24356203   PMID:24451376   PMID:24469828   PMID:24486548   PMID:24704046   PMID:24910428  
PMID:25015289   PMID:25108529   PMID:25132264   PMID:25751062   PMID:25863087   PMID:26186194   PMID:26264872   PMID:26269593   PMID:26366677   PMID:26584049   PMID:26625197   PMID:26841305  
PMID:27121516   PMID:27133164   PMID:27398318   PMID:27398742   PMID:27449087   PMID:27867017   PMID:27986371   PMID:28215707   PMID:28440412   PMID:28514442   PMID:28864460   PMID:29269525  
PMID:29621589   PMID:29656893   PMID:29676528   PMID:29702541   PMID:29904161   PMID:30057198   PMID:30339652   PMID:30789902   PMID:30804502   PMID:30809872   PMID:30844655   PMID:31073040  
PMID:31180492   PMID:31240132   PMID:31251079   PMID:31343991   PMID:31535215   PMID:31586946   PMID:31980815   PMID:32466131   PMID:32814053   PMID:32947577   PMID:33172906   PMID:33277362  
PMID:33394227   PMID:33523834   PMID:33542213   PMID:33961781   PMID:34058059   PMID:34864095   PMID:35271311   PMID:35337019   PMID:35559673   PMID:35696571   PMID:35748872   PMID:35854323  
PMID:35954197   PMID:37549632   PMID:37827155   PMID:38191666  


Genomics

Comparative Map Data
FANCA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381689,737,549 - 89,816,647 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1689,726,683 - 89,816,977 (-)EnsemblGRCh38hg38GRCh38
GRCh371689,803,957 - 89,883,055 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361688,331,460 - 88,410,566 (-)NCBINCBI36Build 36hg18NCBI36
Build 341688,331,459 - 88,410,555NCBI
Celera1674,868,202 - 74,947,293 (-)NCBICelera
Cytogenetic Map16q24.3NCBI
HuRef1675,499,171 - 75,578,023 (-)NCBIHuRef
CHM1_11691,215,162 - 91,294,341 (-)NCBICHM1_1
T2T-CHM13v2.01695,822,301 - 95,901,198 (-)NCBIT2T-CHM13v2.0
Fanca
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398123,993,033 - 124,045,390 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8123,995,039 - 124,045,315 (-)EnsemblGRCm39 Ensembl
GRCm388123,266,294 - 123,318,651 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8123,268,300 - 123,318,576 (-)EnsemblGRCm38mm10GRCm38
MGSCv378125,792,144 - 125,842,476 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368126,154,390 - 126,204,666 (-)NCBIMGSCv36mm8
Celera8127,507,685 - 127,559,921 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map872.1NCBI
Fanca
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81968,210,562 - 68,271,080 (-)NCBIGRCr8
mRatBN7.21951,304,126 - 51,362,586 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1951,304,021 - 51,362,527 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1958,099,010 - 58,156,795 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01958,779,050 - 58,837,262 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01960,997,616 - 61,055,403 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01956,067,548 - 56,126,075 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1956,067,548 - 56,126,063 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01967,115,679 - 67,132,939 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01966,772,525 - 66,837,134 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41953,587,849 - 53,647,780 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11953,592,974 - 53,652,636 (-)NCBI
Celera1950,539,880 - 50,598,370 (-)NCBICelera
Cytogenetic Map19q12NCBI
Fanca
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555413,273,022 - 3,320,052 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555413,272,936 - 3,320,229 (-)NCBIChiLan1.0ChiLan1.0
FANCA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21899,585,370 - 99,668,686 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116105,473,180 - 105,555,774 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01670,495,310 - 70,579,275 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11690,162,900 - 90,245,190 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1690,163,950 - 90,245,147 (-)Ensemblpanpan1.1panPan2
FANCA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1563,778,149 - 63,838,869 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl563,778,212 - 63,838,823 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha563,791,001 - 63,853,152 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0564,006,193 - 64,068,100 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl564,006,249 - 64,066,477 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1564,026,242 - 64,086,986 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0563,863,551 - 63,925,841 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0564,270,126 - 64,332,344 (+)NCBIUU_Cfam_GSD_1.0
Fanca
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934924,527,532 - 24,567,237 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936641281,073 - 324,053 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936641281,119 - 319,796 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FANCA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6253,207 - 300,152 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16253,207 - 300,159 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26378,761 - 425,687 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FANCA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1575,073,161 - 75,149,110 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl575,073,358 - 75,148,591 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666047286,358 - 422,323 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fanca
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624746215,193 - 252,569 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624746206,069 - 253,473 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FANCA
4241 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) single nucleotide variant FANCA-related condition [RCV003409764]|Fanconi anemia [RCV000542670]|Fanconi anemia complementation group A [RCV001120360]|not provided [RCV001562680] Chr16:89765010 [GRCh38]
Chr16:89831418 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1471-8A>G single nucleotide variant FANCA-related condition [RCV003900106]|Fanconi anemia [RCV000526101]|Fanconi anemia complementation group A [RCV002506290] Chr16:89783110 [GRCh38]
Chr16:89849518 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-3C>G single nucleotide variant Fanconi anemia [RCV001065398]|not provided [RCV000519853] Chr16:89783105 [GRCh38]
Chr16:89849513 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) single nucleotide variant Fanconi anemia [RCV000549123]|Fanconi anemia complementation group A [RCV001120361]|not provided [RCV003478119] Chr16:89765031 [GRCh38]
Chr16:89831439 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.769G>A (p.Val257Met) single nucleotide variant Fanconi anemia [RCV000543831] Chr16:89803282 [GRCh38]
Chr16:89869690 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser) single nucleotide variant Fanconi anemia [RCV000553092]|Fanconi anemia complementation group A [RCV001274524] Chr16:89742907 [GRCh38]
Chr16:89809315 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) single nucleotide variant Fanconi anemia [RCV000547916]|Fanconi anemia complementation group A [RCV000764092] Chr16:89811038 [GRCh38]
Chr16:89877446 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.186T>A (p.Leu62=) single nucleotide variant Fanconi anemia [RCV000545000] Chr16:89815880 [GRCh38]
Chr16:89882288 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) single nucleotide variant Fanconi anemia [RCV000528219] Chr16:89745009 [GRCh38]
Chr16:89811417 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs) microsatellite Fanconi anemia [RCV000529668]|Fanconi anemia complementation group A [RCV001256369] Chr16:89778812..89778813 [GRCh38]
Chr16:89845220..89845221 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del) deletion FANCA-related condition [RCV003403253]|Fanconi anemia [RCV000530593] Chr16:89740849..89740854 [GRCh38]
Chr16:89807257..89807262 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) single nucleotide variant Fanconi anemia [RCV000551260]|Fanconi anemia complementation group A [RCV001118712] Chr16:89808363 [GRCh38]
Chr16:89874771 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.948G>A (p.Leu316=) single nucleotide variant Fanconi anemia [RCV000545140] Chr16:89795964 [GRCh38]
Chr16:89862372 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3066+1G>T single nucleotide variant Fanconi anemia [RCV003522940]|Fanconi anemia complementation group A [RCV000144483] Chr16:89752137 [GRCh38]
Chr16:89818545 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) indel Fanconi anemia [RCV000533496]|Fanconi anemia complementation group A [RCV000764091]|not provided [RCV002272132]|not specified [RCV000120964] Chr16:89803296..89803297 [GRCh38]
Chr16:89869704..89869705 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.2:c.1627_1900del deletion Fanconi anemia complementation group A [RCV000003608] Chr16:16q24.3 pathogenic
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) microsatellite Fanconi anemia [RCV000463426]|Fanconi anemia complementation group A [RCV000003609]|not provided [RCV001091063] Chr16:89792034..89792037 [GRCh38]
Chr16:89858442..89858445 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.2:c.1471_1626del deletion Fanconi anemia complementation group A [RCV000003610] Chr16:16q24.3 pathogenic
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs) deletion Fanconi anemia complementation group A [RCV000003611] Chr16:16q24.3 pathogenic
NM_000135.4(FANCA):c.1615del (p.Asp539fs) deletion Fanconi anemia [RCV001046987]|Fanconi anemia complementation group A [RCV000003612]|not provided [RCV003228892] Chr16:89782870 [GRCh38]
Chr16:89849278 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) duplication FANCA-related condition [RCV003398432]|Fanconi anemia [RCV000630905]|Fanconi anemia complementation group A [RCV000003613]|not provided [RCV001818121] Chr16:89745026..89745027 [GRCh38]
Chr16:89811434..89811435 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.2(FANCA):c.1007_3066del deletion Fanconi anemia complementation group A [RCV000003614] Chr16:89751251..89795352 [GRCh38]
Chr16:89817659..89861760 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1606del (p.Ser536fs) deletion Fanconi anemia complementation group A [RCV000003615] Chr16:89782879 [GRCh38]
Chr16:89849287 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) deletion Fanconi anemia [RCV001851619]|Fanconi anemia complementation group A [RCV000003617] Chr16:89742841..89742845 [GRCh38]
Chr16:89809249..89809253 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*467G>A single nucleotide variant Fanconi anemia [RCV001494051] Chr16:89738713 [GRCh38]
Chr16:89805121 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) single nucleotide variant Fanconi anemia complementation group A [RCV000656367]|Neuroblastoma [RCV000656369] Chr16:89764940 [GRCh38]
Chr16:89831348 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.3767T>C (p.Leu1256Pro) single nucleotide variant not provided [RCV000722882] Chr16:89740865 [GRCh38]
Chr16:89807273 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) single nucleotide variant Fanconi anemia [RCV000546220]|Fanconi anemia complementation group A [RCV002476089]|Inborn genetic diseases [RCV002525284]|not provided [RCV003128623] Chr16:89771735 [GRCh38]
Chr16:89838143 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1652T>C (p.Val551Ala) single nucleotide variant not provided [RCV000722360] Chr16:89779932 [GRCh38]
Chr16:89846340 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89791397)_(89792553_?)del deletion Fanconi anemia [RCV000546093] Chr16:89791397..89792553 [GRCh38]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4261-2A>C single nucleotide variant Fanconi anemia [RCV001855345]|Fanconi anemia complementation group A [RCV000656368]|Neuroblastoma [RCV000656370] Chr16:89738710 [GRCh38]
Chr16:89805118 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_001113525.2(ZNF276):c.*1311C>T single nucleotide variant Fanconi anemia [RCV000552668] Chr16:89739557 [GRCh38]
Chr16:89805965 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) single nucleotide variant Fanconi anemia [RCV000527790] Chr16:89765061 [GRCh38]
Chr16:89831469 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.543G>A (p.Ala181=) single nucleotide variant FANCA-related condition [RCV003935401]|Fanconi anemia [RCV000524853]|Fanconi anemia complementation group A [RCV002506291] Chr16:89808347 [GRCh38]
Chr16:89874755 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) single nucleotide variant FANCA-related condition [RCV003942728]|Fanconi anemia [RCV000547815] Chr16:89784905 [GRCh38]
Chr16:89851313 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) single nucleotide variant Fanconi anemia [RCV000543652]|Fanconi anemia complementation group A [RCV002497049] Chr16:89775743 [GRCh38]
Chr16:89842151 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) single nucleotide variant Fanconi anemia [RCV000544397]|Fanconi anemia complementation group A [RCV000670654] Chr16:89758599 [GRCh38]
Chr16:89825007 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3828+1G>C single nucleotide variant FANCA-related condition [RCV003935400]|Fanconi anemia [RCV000546890]|Fanconi anemia complementation group A [RCV001783028] Chr16:89740803 [GRCh38]
Chr16:89807211 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3548G>C (p.Cys1183Ser) single nucleotide variant Fanconi anemia [RCV001526804] Chr16:89745037 [GRCh38]
Chr16:89811445 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) single nucleotide variant Fanconi anemia [RCV000525450]|Fanconi anemia complementation group A [RCV002476090]|not specified [RCV001821479] Chr16:89746854 [GRCh38]
Chr16:89813262 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) single nucleotide variant Fanconi anemia complementation group A [RCV000003616] Chr16:89810716 [GRCh38]
Chr16:89877124 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) microsatellite FANCA-related condition [RCV003924889]|Fanconi anemia [RCV000231918]|Fanconi anemia complementation group A [RCV000033896]|not provided [RCV000485336]|not specified [RCV000120945] Chr16:89740842..89740844 [GRCh38]
Chr16:89807250..89807252 [GRCh37]
Chr16:16q24.3		 pathogenic|not provided
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) single nucleotide variant Fanconi anemia [RCV000630944]|Fanconi anemia complementation group A [RCV000173013] Chr16:89767185 [GRCh38]
Chr16:89833593 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
FANCA, IVS7DS, G-A, +5 single nucleotide variant Fanconi anemia, complementation group A [RCV000173014] Chr16:16q24.3 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1 copy number loss See cases [RCV000052021] Chr16:89570545..89814613 [GRCh38]
Chr16:89636953..89881021 [GRCh37]
Chr16:88164454..88408522 [NCBI36]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1 copy number loss See cases [RCV000052022] Chr16:89730086..90081985 [GRCh38]
Chr16:89796494..90148393 [GRCh37]
Chr16:88323995..88675894 [NCBI36]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1 copy number loss See cases [RCV000052023] Chr16:89791645..90000807 [GRCh38]
Chr16:89858053..90067215 [GRCh37]
Chr16:88385554..88594716 [NCBI36]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3 copy number gain See cases [RCV000053937] Chr16:89665706..90081985 [GRCh38]
Chr16:89732114..90148393 [GRCh37]
Chr16:88259615..88675894 [NCBI36]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1674G>C single nucleotide variant Fanconi anemia complementation group A [RCV000664586]|not specified [RCV000122399] Chr16:89739920 [GRCh38]
Chr16:89806328 [GRCh37]
Chr16:16q24.3		 likely benign|not provided
NM_001113525.2(ZNF276):c.*1689C>A single nucleotide variant not provided [RCV001610434]|not specified [RCV000122400] Chr16:89739935 [GRCh38]
Chr16:89806343 [GRCh37]
Chr16:16q24.3		 benign|not provided
NM_001113525.2(ZNF276):c.*1693A>T single nucleotide variant Fanconi anemia complementation group A [RCV001537680]|not provided [RCV001668279]|not specified [RCV000122401] Chr16:89739939 [GRCh38]
Chr16:89806347 [GRCh37]
Chr16:16q24.3		 benign|not provided
NM_000135.4(FANCA):c.80-13C>T single nucleotide variant Fanconi anemia [RCV001513153]|Fanconi anemia complementation group A [RCV001120659]|not provided [RCV002055375]|not specified [RCV000122402] Chr16:89815999 [GRCh38]
Chr16:89882407 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) single nucleotide variant Fanconi anemia [RCV000371007]|Fanconi anemia complementation group A [RCV001094268]|not provided [RCV001709492]|not specified [RCV000120909] Chr16:89816592 [GRCh38]
Chr16:89883000 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) single nucleotide variant Fanconi anemia [RCV000312371]|Fanconi anemia complementation group A [RCV001094270]|not provided [RCV001705883]|not specified [RCV000120910] Chr16:89816599 [GRCh38]
Chr16:89883007 [GRCh37]
Chr16:16q24.3		 benign|likely benign|not provided
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) single nucleotide variant FANCA-related condition [RCV003905153]|Fanconi anemia [RCV000469548]|Fanconi anemia complementation group A [RCV001115652]|not provided [RCV001509536]|not specified [RCV000120911] Chr16:89799202 [GRCh38]
Chr16:89865610 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) single nucleotide variant FANCA-related condition [RCV003925189]|Fanconi anemia [RCV000474583]|Fanconi anemia complementation group A [RCV000665641]|not provided [RCV001818291]|not specified [RCV000120912] Chr16:89799197 [GRCh38]
Chr16:89865605 [GRCh37]
Chr16:16q24.3		 pathogenic|not provided
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) single nucleotide variant Fanconi anemia [RCV000234294]|Fanconi anemia complementation group A [RCV001094444]|not provided [RCV003421999]|not specified [RCV000120913] Chr16:89795980 [GRCh38]
Chr16:89862388 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) single nucleotide variant Fanconi anemia [RCV001239310]|Fanconi anemia complementation group A [RCV001120561]|not specified [RCV000120914] Chr16:89792505 [GRCh38]
Chr16:89858913 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) single nucleotide variant Fanconi anemia [RCV000278826]|Fanconi anemia complementation group A [RCV001094428]|not provided [RCV001705884]|not specified [RCV000120915] Chr16:89791527 [GRCh38]
Chr16:89857935 [GRCh37]
Chr16:16q24.3		 benign|likely benign|not provided
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) single nucleotide variant Fanconi anemia [RCV000802124]|Fanconi anemia complementation group A [RCV000665475]|not provided [RCV003477503]|not specified [RCV000120916] Chr16:89783024 [GRCh38]
Chr16:89849432 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) single nucleotide variant Fanconi anemia [RCV000389853]|Fanconi anemia complementation group A [RCV001094298]|not provided [RCV001705885]|not specified [RCV000120917] Chr16:89783072 [GRCh38]
Chr16:89849480 [GRCh37]
Chr16:16q24.3		 benign|not provided
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) single nucleotide variant Fanconi anemia complementation group A [RCV000672500]|not specified [RCV000120918] Chr16:89782860 [GRCh38]
Chr16:89849268 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.1861del (p.Tyr621fs) deletion not specified [RCV000120919] Chr16:89775781 [GRCh38]
Chr16:89842189 [GRCh37]
Chr16:16q24.3		 not provided
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) single nucleotide variant Fanconi anemia [RCV000354160]|Fanconi anemia complementation group A [RCV001094418]|not provided [RCV001705886]|not specified [RCV000120920] Chr16:89773358 [GRCh38]
Chr16:89839766 [GRCh37]
Chr16:16q24.3		 benign|likely benign|not provided
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) single nucleotide variant Fanconi anemia [RCV000299264]|Fanconi anemia complementation group A [RCV001094417]|not specified [RCV000120921] Chr16:89773357 [GRCh38]
Chr16:89839765 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) single nucleotide variant Fanconi anemia [RCV001243928]|Fanconi anemia complementation group A [RCV000667865]|not specified [RCV000120922] Chr16:89773277 [GRCh38]
Chr16:89839685 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) single nucleotide variant Fanconi anemia [RCV000707539]|Fanconi anemia complementation group A [RCV001271604]|not specified [RCV000120923] Chr16:89771757 [GRCh38]
Chr16:89838165 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) single nucleotide variant FANCA-related condition [RCV003952596]|Fanconi anemia [RCV000233082]|Fanconi anemia complementation group A [RCV001333235]|not provided [RCV002225374]|not specified [RCV000120924] Chr16:89771728 [GRCh38]
Chr16:89838136 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) single nucleotide variant Fanconi anemia [RCV000312324]|Fanconi anemia complementation group A [RCV001094357]|not provided [RCV001567400]|not specified [RCV000120925] Chr16:89771678 [GRCh38]
Chr16:89838086 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) single nucleotide variant Fanconi anemia [RCV000227911]|Fanconi anemia complementation group A [RCV000674807]|not provided [RCV001800408]|not specified [RCV000120926] Chr16:89770570 [GRCh38]
Chr16:89836978 [GRCh37]
Chr16:16q24.3		 benign|likely benign|not provided
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) single nucleotide variant Fanconi anemia [RCV000292806]|Fanconi anemia complementation group A [RCV001094251]|Inborn genetic diseases [RCV002444577]|not provided [RCV001705887]|not specified [RCV000120927] Chr16:89769915 [GRCh38]
Chr16:89836323 [GRCh37]
Chr16:16q24.3		 benign|likely benign|not provided
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) single nucleotide variant Fanconi anemia [RCV001854625]|Fanconi anemia complementation group A [RCV000671626]|not specified [RCV000120928] Chr16:89767223 [GRCh38]
Chr16:89833631 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) single nucleotide variant FANCA-related condition [RCV003915204]|Fanconi anemia [RCV000206151]|Fanconi anemia complementation group A [RCV000202580]|not provided [RCV000514362]|not specified [RCV000120929] Chr16:89767168 [GRCh38]
Chr16:89833576 [GRCh37]
Chr16:16q24.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.2568G>C (p.Leu856Phe) single nucleotide variant not specified [RCV000120930] Chr16:89767174 [GRCh38]
Chr16:89833582 [GRCh37]
Chr16:16q24.3		 not provided
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) single nucleotide variant FANCA-related condition [RCV003398726]|Fanconi anemia [RCV001447411]|Fanconi anemia complementation group A [RCV000668295]|not provided [RCV000766439]|not specified [RCV000120931] Chr16:89767175 [GRCh38]
Chr16:89833583 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) single nucleotide variant Fanconi anemia [RCV000531167]|Fanconi anemia complementation group A [RCV000765327]|not provided [RCV003477504]|not specified [RCV000120932] Chr16:89764962 [GRCh38]
Chr16:89831370 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) single nucleotide variant Fanconi anemia [RCV002514634]|Fanconi anemia complementation group A [RCV000668462]|not specified [RCV000120933] Chr16:89764987 [GRCh38]
Chr16:89831395 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) single nucleotide variant Fanconi anemia [RCV000812362]|Fanconi anemia complementation group A [RCV000668002]|not provided [RCV003456364]|not specified [RCV000120934] Chr16:89758614 [GRCh38]
Chr16:89825022 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) single nucleotide variant Fanconi anemia [RCV000872247]|Fanconi anemia complementation group A [RCV000667206]|not specified [RCV000120935] Chr16:89758699 [GRCh38]
Chr16:89825107 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) single nucleotide variant FANCA-related condition [RCV003975072]|Fanconi anemia [RCV000862981]|Fanconi anemia complementation group A [RCV001276514]|not provided [RCV003477505]|not specified [RCV000120936] Chr16:89758581 [GRCh38]
Chr16:89824989 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) single nucleotide variant Fanconi anemia [RCV000351747]|Fanconi anemia complementation group A [RCV001094408]|Malignant tumor of prostate [RCV000488415]|not provided [RCV001705888]|not specified [RCV000120937] Chr16:89748744 [GRCh38]
Chr16:89815152 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) single nucleotide variant Fanconi anemia [RCV000228134]|Fanconi anemia complementation group A [RCV000674808]|not provided [RCV001311466]|not specified [RCV000120938] Chr16:89746685 [GRCh38]
Chr16:89813093 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) single nucleotide variant Fanconi anemia [RCV002514635]|Fanconi anemia complementation group A [RCV000667894]|not specified [RCV000120939] Chr16:89746675 [GRCh38]
Chr16:89813083 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) single nucleotide variant FANCA-related condition [RCV003965014]|Fanconi anemia [RCV000474415]|Fanconi anemia complementation group A [RCV003444203]|not provided [RCV002293419]|not specified [RCV000120940] Chr16:89746670 [GRCh38]
Chr16:89813078 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) single nucleotide variant FANCA-related condition [RCV003935154]|Fanconi anemia [RCV000226225]|Fanconi anemia complementation group A [RCV003147340]|Hepatoblastoma [RCV001843480]|not provided [RCV003477506]|not specified [RCV000120941] Chr16:89745061 [GRCh38]
Chr16:89811469 [GRCh37]
Chr16:16q24.3		 likely pathogenic|benign|likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) single nucleotide variant FANCA-related condition [RCV003952597]|Fanconi anemia [RCV000204450]|Fanconi anemia complementation group A [RCV001115378]|not provided [RCV003407512]|not specified [RCV000120942] Chr16:89745002 [GRCh38]
Chr16:89811410 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) single nucleotide variant Fanconi anemia [RCV000869827]|Fanconi anemia complementation group A [RCV001115380]|not provided [RCV003477507]|not specified [RCV000120943] Chr16:89745047 [GRCh38]
Chr16:89811455 [GRCh37]
Chr16:16q24.3		 benign|likely benign|not provided
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) single nucleotide variant FANCA-related condition [RCV003975073]|Fanconi anemia [RCV000862979]|Fanconi anemia complementation group A [RCV001274558]|not provided [RCV003477508]|not specified [RCV000120944] Chr16:89745001 [GRCh38]
Chr16:89811409 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) deletion Fanconi anemia [RCV001386991]|Fanconi anemia complementation group A [RCV003460851]|not specified [RCV000120946] Chr16:89740840 [GRCh38]
Chr16:89807248 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|not provided
NM_000135.4(FANCA):c.3857A>C (p.His1286Pro) single nucleotide variant Fanconi anemia [RCV002515866]|not specified [RCV000120947] Chr16:89740071 [GRCh38]
Chr16:89806479 [GRCh37]
Chr16:16q24.3		 likely benign|not provided
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) single nucleotide variant Fanconi anemia [RCV000270548]|Fanconi anemia complementation group A [RCV000625424]|Ovarian cancer [RCV003153391]|not provided [RCV001719883]|not specified [RCV000120948] Chr16:89740069 [GRCh38]
Chr16:89806477 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000135.4(FANCA):c.370A>T (p.Ile124Phe) single nucleotide variant not specified [RCV000120949] Chr16:89810985 [GRCh38]
Chr16:89877393 [GRCh37]
Chr16:16q24.3		 not provided
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) single nucleotide variant Fanconi anemia [RCV000537860]|Fanconi anemia complementation group A [RCV003144133]|not provided [RCV003477509]|not specified [RCV000120950] Chr16:89811047 [GRCh38]
Chr16:89877455 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) single nucleotide variant Fanconi anemia [RCV000311773]|Fanconi anemia complementation group A [RCV001094348]|not provided [RCV001705889]|not specified [RCV000120951] Chr16:89739506 [GRCh38]
Chr16:89805914 [GRCh37]
Chr16:16q24.3		 benign|likely benign|not provided
NM_000135.4(FANCA):c.3983C>T (p.Thr1328Ile) single nucleotide variant not specified [RCV000120952] Chr16:89739505 [GRCh38]
Chr16:89805913 [GRCh37]
Chr16:16q24.3		 not provided
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) single nucleotide variant Fanconi anemia [RCV000824570]|Fanconi anemia complementation group A [RCV000666660]|not provided [RCV003477510]|not specified [RCV000120953] Chr16:89739285 [GRCh38]
Chr16:89805693 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) single nucleotide variant Fanconi anemia [RCV000356305]|Fanconi anemia complementation group A [RCV001094347]|not provided [RCV001357339]|not specified [RCV000120954] Chr16:89739264 [GRCh38]
Chr16:89805672 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) single nucleotide variant FANCA-related condition [RCV003915205]|Fanconi anemia [RCV000226145]|Fanconi anemia complementation group A [RCV001115284]|not provided [RCV001552904]|not specified [RCV000120955] Chr16:89738893 [GRCh38]
Chr16:89805301 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) single nucleotide variant Fanconi anemia [RCV000544791]|not provided [RCV002477314]|not specified [RCV000120956] Chr16:89738916 [GRCh38]
Chr16:89805324 [GRCh37]
Chr16:16q24.3		 benign|likely benign|not provided
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) single nucleotide variant Fanconi anemia [RCV000547555]|Fanconi anemia complementation group A [RCV000665723]|not specified [RCV000120957] Chr16:89738696 [GRCh38]
Chr16:89805104 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) single nucleotide variant Fanconi anemia [RCV001214292]|Fanconi anemia complementation group A [RCV000671628]|not provided [RCV003477511]|not specified [RCV000120958] Chr16:89738653 [GRCh38]
Chr16:89805061 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) single nucleotide variant Fanconi anemia [RCV000465739]|not provided [RCV003237725]|not specified [RCV000120959] Chr16:89810749 [GRCh38]
Chr16:89877157 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance|not provided
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) single nucleotide variant Fanconi anemia [RCV000317320]|Fanconi anemia complementation group A [RCV001094363]|not provided [RCV001618286]|not specified [RCV000120960] Chr16:89808348 [GRCh38]
Chr16:89874756 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) single nucleotide variant Fanconi anemia [RCV002055335]|Fanconi anemia complementation group A [RCV000672751]|not provided [RCV003477512]|not specified [RCV000120961] Chr16:89808337 [GRCh38]
Chr16:89874745 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance|not provided
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) single nucleotide variant Fanconi anemia [RCV000461615]|Fanconi anemia complementation group A [RCV000664733]|not specified [RCV000120962] Chr16:89805366 [GRCh38]
Chr16:89871774 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000135.4(FANCA):c.679C>G (p.His227Asp) single nucleotide variant FANCA-related condition [RCV003415913]|Fanconi anemia [RCV000692440]|Fanconi anemia complementation group A [RCV001274655]|not specified [RCV000120963] Chr16:89805310 [GRCh38]
Chr16:89871718 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) single nucleotide variant Fanconi anemia [RCV000268674]|Fanconi anemia complementation group A [RCV001094266]|not provided [RCV001705890]|not specified [RCV000120966] Chr16:89803296 [GRCh38]
Chr16:89869704 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) single nucleotide variant Fanconi anemia [RCV000308742]|Fanconi anemia complementation group A [RCV001094264]|Inborn genetic diseases [RCV002415609]|Malignant tumor of breast [RCV001269374]|not provided [RCV001705891]|not specified [RCV000120967] Chr16:89799635 [GRCh38]
Chr16:89866043 [GRCh37]
Chr16:16q24.3		 benign|not provided
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) microsatellite Fanconi anemia [RCV000824515]|Fanconi anemia complementation group A [RCV001274649]|not provided [RCV003477513]|not specified [RCV000120965] Chr16:89803285..89803287 [GRCh38]
Chr16:89869693..89869695 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) single nucleotide variant FANCA-related condition [RCV003920022]|Fanconi anemia [RCV000475267]|Fanconi anemia complementation group A [RCV000989672]|not provided [RCV001800637]|not specified [RCV000255908] Chr16:89775768 [GRCh38]
Chr16:89842176 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg) single nucleotide variant Fanconi anemia [RCV001312902] Chr16:89738620 [GRCh38]
Chr16:89805028 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1959C>A (p.Leu653=) single nucleotide variant Fanconi anemia [RCV001412308] Chr16:89773326 [GRCh38]
Chr16:89839734 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.563A>G (p.Gln188Arg) single nucleotide variant Fanconi anemia [RCV001964130] Chr16:89808327 [GRCh38]
Chr16:89874735 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.987_990del (p.His330fs) microsatellite Fanconi anemia [RCV000804476]|Fanconi anemia complementation group A [RCV000190585]|not provided [RCV000483448] Chr16:89795922..89795925 [GRCh38]
Chr16:89862330..89862333 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) deletion Fanconi anemia [RCV001043860]|Fanconi anemia complementation group A [RCV000190642]|not provided [RCV003325465] Chr16:89739285 [GRCh38]
Chr16:89805693 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) single nucleotide variant Fanconi anemia [RCV001859237]|Fanconi anemia complementation group A [RCV001292617] Chr16:89738965 [GRCh38]
Chr16:89805373 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg) single nucleotide variant Fanconi anemia [RCV002541817]|Fanconi anemia complementation group A [RCV001292894] Chr16:89773291 [GRCh38]
Chr16:89839699 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q24.3(chr16:89608619-89821113)x1 copy number loss See cases [RCV000137427] Chr16:89608619..89821113 [GRCh38]
Chr16:89675027..89887521 [GRCh37]
Chr16:88202528..88415022 [NCBI36]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q24.3(chr16:89814556-89818183)x3 copy number gain See cases [RCV000137547] Chr16:89814556..89818183 [GRCh38]
Chr16:89880964..89884591 [GRCh37]
Chr16:88408465..88412092 [NCBI36]
Chr16:16q24.3		 pathogenic|uncertain significance
GRCh38/hg38 16q24.3(chr16:89814556-89818183)x4 copy number gain See cases [RCV000137548] Chr16:89814556..89818183 [GRCh38]
Chr16:89880964..89884591 [GRCh37]
Chr16:88408465..88412092 [NCBI36]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q24.3(chr16:89610227-89829851)x1 copy number loss See cases [RCV000141836] Chr16:89610227..89829851 [GRCh38]
Chr16:89676635..89896259 [GRCh37]
Chr16:88204136..88423760 [NCBI36]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
NM_000135.4(FANCA):c.283+3A>C single nucleotide variant Fanconi anemia [RCV000168293]|Fanconi anemia complementation group A [RCV001256326] Chr16:89814517 [GRCh38]
Chr16:89880925 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.97del (p.Glu33fs) deletion Fanconi anemia [RCV000168396]|Fanconi anemia complementation group A [RCV001256538]|not provided [RCV003477644] Chr16:89815969 [GRCh38]
Chr16:89882377 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) duplication Fanconi anemia [RCV000168438]|Fanconi anemia complementation group A [RCV000239378] Chr16:89761961..89761962 [GRCh38]
Chr16:89828369..89828370 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) microsatellite Fanconi anemia [RCV000168439]|Fanconi anemia complementation group A [RCV001256290] Chr16:89746834..89746836 [GRCh38]
Chr16:89813242..89813244 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.2(FANCA):c.-138_-126dup duplication not provided [RCV001651056]|not specified [RCV000192687] Chr16:89816740..89816741 [GRCh38]
Chr16:89883148..89883149 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.1359+123C>G single nucleotide variant not specified [RCV000194062] Chr16:89791280 [GRCh38]
Chr16:89857688 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1826+12C>T single nucleotide variant Fanconi anemia [RCV001515918]|Fanconi anemia complementation group A [RCV001120467]|not provided [RCV003422094]|not specified [RCV000195264] Chr16:89778789 [GRCh38]
Chr16:89845197 [GRCh37]
Chr16:16q24.3		 benign|likely benign
GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1 copy number loss See cases [RCV000240112] Chr16:89836157..90127980 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3981C>T (p.His1327=) single nucleotide variant Fanconi anemia [RCV000198364]|Fanconi anemia complementation group A [RCV001118445]|not provided [RCV003430755]|not specified [RCV001818475] Chr16:89739507 [GRCh38]
Chr16:89805915 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) single nucleotide variant Fanconi anemia [RCV000198937]|Fanconi anemia complementation group A [RCV000765322] Chr16:89742862 [GRCh38]
Chr16:89809270 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) single nucleotide variant Fanconi anemia [RCV000199923]|Fanconi anemia complementation group A [RCV000674142]|See cases [RCV002252053]|not provided [RCV001091062] Chr16:89765062 [GRCh38]
Chr16:89831470 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.2(FANCA):c.(?_-1)_522+?del deletion Fanconi anemia [RCV000200407] Chr16:89810707..89816616 [GRCh38]
Chr16:89877115..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.826+5_826+9del deletion Fanconi anemia complementation group A [RCV000192760] Chr16:89799596..89799600 [GRCh38]
Chr16:89866004..89866008 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.827-156G>A single nucleotide variant not specified [RCV000193983] Chr16:89799388 [GRCh38]
Chr16:89865796 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
NM_000135.4(FANCA):c.4011-1G>A single nucleotide variant Fanconi anemia [RCV003765581]|not provided [RCV000270448] Chr16:89739290 [GRCh38]
Chr16:89805698 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) deletion Fanconi anemia [RCV000204633]|Fanconi anemia complementation group A [RCV000668440]|not provided [RCV003480552] Chr16:89739218..89739231 [GRCh38]
Chr16:89805626..89805639 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.238del (p.Cys80fs) deletion Fanconi anemia [RCV000204795]|Fanconi anemia complementation group A [RCV001256217]|not provided [RCV002269263] Chr16:89814565 [GRCh38]
Chr16:89880973 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.416_417del (p.Val139fs) microsatellite Fanconi anemia [RCV000205897]|Fanconi anemia complementation group A [RCV001256338] Chr16:89810938..89810939 [GRCh38]
Chr16:89877346..89877347 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) single nucleotide variant Fanconi anemia [RCV000206698]|Fanconi anemia complementation group A [RCV000665865]|not provided [RCV000254722] Chr16:89746890 [GRCh38]
Chr16:89813298 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) single nucleotide variant Fanconi anemia [RCV000545703]|Fanconi anemia complementation group A [RCV000765321]|not provided [RCV002476091] Chr16:89739526 [GRCh38]
Chr16:89805934 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) single nucleotide variant Fanconi anemia [RCV000458460]|Fanconi anemia complementation group A [RCV000675145]|Inborn genetic diseases [RCV000210699] Chr16:89758617 [GRCh38]
Chr16:89825025 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) single nucleotide variant Fanconi anemia [RCV001052202]|Fanconi anemia complementation group A [RCV000670494] Chr16:89767160 [GRCh38]
Chr16:89833568 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) single nucleotide variant Fanconi anemia [RCV000801328]|Fanconi anemia complementation group A [RCV000670597] Chr16:89738944 [GRCh38]
Chr16:89805352 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) single nucleotide variant Fanconi anemia complementation group A [RCV000669501] Chr16:89783098 [GRCh38]
Chr16:89849506 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) deletion Fanconi anemia [RCV002531235]|Fanconi anemia complementation group A [RCV000669694] Chr16:89742869 [GRCh38]
Chr16:89809277 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) single nucleotide variant Fanconi anemia [RCV000230300]|Fanconi anemia complementation group A [RCV000665186]|not provided [RCV000498721] Chr16:89746848 [GRCh38]
Chr16:89813256 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) single nucleotide variant Fanconi anemia [RCV000229134]|Fanconi anemia complementation group A [RCV000671098]|not provided [RCV001800587] Chr16:89742804 [GRCh38]
Chr16:89809212 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.694A>C (p.Arg232=) single nucleotide variant Fanconi anemia [RCV000229339]|Fanconi anemia complementation group A [RCV001117078]|not provided [RCV001532335]|not specified [RCV002478833] Chr16:89805295 [GRCh38]
Chr16:89871703 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113525.2(ZNF276):c.*1316C>T single nucleotide variant FANCA-related condition [RCV003977643]|Fanconi anemia [RCV000229459]|Fanconi anemia complementation group A [RCV001094404]|not provided [RCV001565956]|not specified [RCV002478832] Chr16:89739562 [GRCh38]
Chr16:89805970 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.115A>C (p.Arg39=) single nucleotide variant Fanconi anemia [RCV000231579]|Fanconi anemia complementation group A [RCV001094449]|not specified [RCV000245410] Chr16:89815951 [GRCh38]
Chr16:89882359 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) single nucleotide variant Fanconi anemia [RCV000229622]|Fanconi anemia complementation group A [RCV001276547] Chr16:89770254 [GRCh38]
Chr16:89836662 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) single nucleotide variant Fanconi anemia [RCV000231985]|Fanconi anemia complementation group A [RCV001094448]|not provided [RCV001092318] Chr16:89815909 [GRCh38]
Chr16:89882317 [GRCh37]
Chr16:16q24.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) single nucleotide variant FANCA-related condition [RCV003907847]|Fanconi anemia [RCV000230217]|Fanconi anemia complementation group A [RCV002503887]|not specified [RCV000499617] Chr16:89771808 [GRCh38]
Chr16:89838216 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.903G>T (p.Val301=) single nucleotide variant Fanconi anemia [RCV000230381]|Fanconi anemia complementation group A [RCV001120564]|not provided [RCV001800588]|not specified [RCV001818562] Chr16:89796009 [GRCh38]
Chr16:89862417 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) single nucleotide variant Fanconi anemia [RCV000226672]|Fanconi anemia complementation group A [RCV001256622] Chr16:89740024 [GRCh38]
Chr16:89806432 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) single nucleotide variant Fanconi anemia [RCV000227167]|Fanconi anemia complementation group A [RCV000674097] Chr16:89803299 [GRCh38]
Chr16:89869707 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) single nucleotide variant Fanconi anemia [RCV000231055]|Fanconi anemia complementation group A [RCV001274646]|not provided [RCV002261014] Chr16:89799190 [GRCh38]
Chr16:89865598 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) deletion Fanconi anemia [RCV000228729]|Fanconi anemia complementation group A [RCV001782717] Chr16:89792479..89792480 [GRCh38]
Chr16:89858887..89858888 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) single nucleotide variant Fanconi anemia [RCV001411639]|Fanconi anemia complementation group A [RCV000672377] Chr16:89746882 [GRCh38]
Chr16:89813290 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) insertion Fanconi anemia [RCV000229262] Chr16:89783071..89783072 [GRCh38]
Chr16:89849479..89849480 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) single nucleotide variant FANCA-related condition [RCV003401165]|Fanconi anemia [RCV000226416]|Fanconi anemia complementation group A [RCV001094425]|not provided [RCV001762513] Chr16:89791422 [GRCh38]
Chr16:89857830 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) single nucleotide variant Fanconi anemia [RCV000232454]|Fanconi anemia complementation group A [RCV000765323] Chr16:89746621 [GRCh38]
Chr16:89813029 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2981+4dup duplication FANCA-related condition [RCV003955297]|Fanconi anemia [RCV000231103]|Fanconi anemia complementation group A [RCV001276513]|not provided [RCV002478831] Chr16:89758572..89758573 [GRCh38]
Chr16:89824980..89824981 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs) microsatellite Fanconi anemia [RCV000231136]|Fanconi anemia complementation group A [RCV001256599] Chr16:89764937..89764938 [GRCh38]
Chr16:89831345..89831346 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=) single nucleotide variant FANCA-related condition [RCV003977642]|Fanconi anemia [RCV002057233] Chr16:89752210 [GRCh38]
Chr16:89818618 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) single nucleotide variant Fanconi anemia [RCV000234002]|Fanconi anemia complementation group A [RCV001094432]|not provided [RCV003477786]|not specified [RCV001818560] Chr16:89762002 [GRCh38]
Chr16:89828410 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.897C>T (p.Phe299=) single nucleotide variant Fanconi anemia [RCV000227486] Chr16:89796015 [GRCh38]
Chr16:89862423 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-6C>T single nucleotide variant Fanconi anemia [RCV000234352] Chr16:89746694 [GRCh38]
Chr16:89813102 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.709+5G>T single nucleotide variant Fanconi anemia [RCV000233245]|Fanconi anemia complementation group A [RCV001256557] Chr16:89805275 [GRCh38]
Chr16:89871683 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) single nucleotide variant Fanconi anemia [RCV000233505]|Fanconi anemia complementation group A [RCV000665027]|not provided [RCV001770188]|not specified [RCV001818561] Chr16:89816575 [GRCh38]
Chr16:89882983 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr) single nucleotide variant Fanconi anemia [RCV000232585] Chr16:89799172 [GRCh38]
Chr16:89865580 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) single nucleotide variant Fanconi anemia [RCV000233473]|Fanconi anemia complementation group A [RCV000672516] Chr16:89767149 [GRCh38]
Chr16:89833557 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) single nucleotide variant Fanconi anemia [RCV001083776]|Fanconi anemia complementation group A [RCV001120466]|not provided [RCV000761973]|not specified [RCV000253440] Chr16:89775812 [GRCh38]
Chr16:89842220 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) single nucleotide variant Fanconi anemia [RCV000227140]|Fanconi anemia complementation group A [RCV000673348] Chr16:89758655 [GRCh38]
Chr16:89825063 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2602-13CT[2] microsatellite Fanconi anemia [RCV000227314]|Fanconi anemia complementation group A [RCV001523811]|not provided [RCV000858161]|not specified [RCV001800586] Chr16:89765074..89765075 [GRCh38]
Chr16:89831482..89831483 [GRCh37]
Chr16:16q24.3		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) single nucleotide variant FANCA-related condition [RCV003942727]|Fanconi anemia [RCV000526863]|Fanconi anemia complementation group A [RCV002483351] Chr16:89791472 [GRCh38]
Chr16:89857880 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) single nucleotide variant Fanconi anemia complementation group A [RCV000669647] Chr16:89765066 [GRCh38]
Chr16:89831474 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) deletion Fanconi anemia [RCV001861781]|Fanconi anemia complementation group A [RCV000669747]|not provided [RCV002253554] Chr16:89778980..89778985 [GRCh38]
Chr16:89845388..89845393 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) single nucleotide variant Fanconi anemia [RCV001246136]|Fanconi anemia complementation group A [RCV000669832]|Microcephaly [RCV001252842]|Ovarian cancer [RCV003153795]|not specified [RCV003155269] Chr16:89738910 [GRCh38]
Chr16:89805318 [GRCh37]
Chr16:16q24.3		 likely pathogenic|likely benign|uncertain significance
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr) single nucleotide variant Fanconi anemia [RCV000546332] Chr16:89799178 [GRCh38]
Chr16:89865586 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.643_644del (p.Cys215fs) microsatellite Fanconi anemia [RCV000525327] Chr16:89805345..89805346 [GRCh38]
Chr16:89871753..89871754 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) single nucleotide variant Fanconi anemia [RCV000699054]|Fanconi anemia complementation group A [RCV000669920]|not provided [RCV001509540] Chr16:89816614 [GRCh38]
Chr16:89883022 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) single nucleotide variant Fanconi anemia complementation group A [RCV000239376] Chr16:89765020 [GRCh38]
Chr16:89831428 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) single nucleotide variant Fanconi anemia complementation group A [RCV000239377] Chr16:89765040 [GRCh38]
Chr16:89831448 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile) single nucleotide variant Fanconi anemia complementation group A [RCV000239379] Chr16:89764906 [GRCh38]
Chr16:89831314 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1901-1G>A single nucleotide variant Fanconi anemia complementation group A [RCV000669366]|not provided [RCV003237984] Chr16:89773385 [GRCh38]
Chr16:89839793 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1901-2A>G single nucleotide variant Fanconi anemia [RCV001868230]|Fanconi anemia complementation group A [RCV000669408] Chr16:89773386 [GRCh38]
Chr16:89839794 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) single nucleotide variant Fanconi anemia [RCV001584542]|Fanconi anemia complementation group A [RCV000669575] Chr16:89808341 [GRCh38]
Chr16:89874749 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) single nucleotide variant Fanconi anemia [RCV000475463]|not provided [RCV001548653]|not specified [RCV000246102] Chr16:89769950 [GRCh38]
Chr16:89836358 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.1826+30_1826+31insTG insertion not provided [RCV001636742]|not specified [RCV000248453] Chr16:89778770..89778771 [GRCh38]
Chr16:89845178..89845179 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) single nucleotide variant Fanconi anemia [RCV000397277]|Fanconi anemia complementation group A [RCV001094442]|not provided [RCV001711523]|not specified [RCV000253426] Chr16:89792009 [GRCh38]
Chr16:89858417 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3067-23G>A single nucleotide variant Fanconi anemia complementation group A [RCV003316333]|not provided [RCV001594886]|not specified [RCV000243751] Chr16:89749925 [GRCh38]
Chr16:89816333 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1826+15T>C single nucleotide variant Fanconi anemia [RCV001510315]|Fanconi anemia complementation group A [RCV000359688]|not provided [RCV001709523]|not specified [RCV000243909] Chr16:89778786 [GRCh38]
Chr16:89845194 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3408+33T>C single nucleotide variant Fanconi anemia complementation group A [RCV003316335]|not provided [RCV001711648]|not specified [RCV000246376] Chr16:89746798 [GRCh38]
Chr16:89813206 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1777-41_1777-38del deletion not provided [RCV002247691]|not specified [RCV000244065] Chr16:89778888..89778891 [GRCh38]
Chr16:89845296..89845299 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) single nucleotide variant Fanconi anemia [RCV000397280]|Fanconi anemia complementation group A [RCV001094427]|not provided [RCV001706287]|not specified [RCV000246529] Chr16:89791472 [GRCh38]
Chr16:89857880 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.918G>A (p.Thr306=) single nucleotide variant Fanconi anemia [RCV000870375]|not specified [RCV000248944] Chr16:89795994 [GRCh38]
Chr16:89862402 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) single nucleotide variant Fanconi anemia [RCV000285113]|Fanconi anemia complementation group A [RCV001094473]|not provided [RCV001800620]|not specified [RCV000251371] Chr16:89738637 [GRCh38]
Chr16:89805045 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.-18G>A single nucleotide variant Fanconi anemia complementation group A [RCV000367041]|not specified [RCV000253915] Chr16:89816633 [GRCh38]
Chr16:89883041 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3 copy number gain See cases [RCV000240330] Chr16:89696893..90103214 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*607A>G single nucleotide variant Fanconi anemia complementation group A [RCV001537643]|not provided [RCV001682955]|not specified [RCV000241844] Chr16:89738853 [GRCh38]
Chr16:89805261 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3240-42G>A single nucleotide variant Fanconi anemia [RCV001510314]|Fanconi anemia complementation group A [RCV001537681]|not provided [RCV001598632]|not specified [RCV000251643] Chr16:89748809 [GRCh38]
Chr16:89815217 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.894-8A>G single nucleotide variant Fanconi anemia [RCV000400068]|Fanconi anemia complementation group A [RCV001094263]|not provided [RCV001536706]|not specified [RCV000244364] Chr16:89796026 [GRCh38]
Chr16:89862434 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.427-25T>A single nucleotide variant Fanconi anemia complementation group A [RCV003316339]|not provided [RCV001598633]|not specified [RCV000246822] Chr16:89810827 [GRCh38]
Chr16:89877235 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3408+42G>A single nucleotide variant not specified [RCV000249269] Chr16:89746789 [GRCh38]
Chr16:89813197 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) single nucleotide variant Fanconi anemia [RCV000302119]|Fanconi anemia complementation group A [RCV001094413]|not provided [RCV001706288]|not specified [RCV000251740] Chr16:89758657 [GRCh38]
Chr16:89825065 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3408+45G>A single nucleotide variant Fanconi anemia complementation group A [RCV003316336]|not provided [RCV001610558]|not specified [RCV000254260] Chr16:89746786 [GRCh38]
Chr16:89813194 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1626+29C>T single nucleotide variant not specified [RCV000244573] Chr16:89782830 [GRCh38]
Chr16:89849238 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*841G>A single nucleotide variant not provided [RCV001256417]|not specified [RCV000251896] Chr16:89739087 [GRCh38]
Chr16:89805495 [GRCh37]
Chr16:16q24.3		 pathogenic|likely benign
NM_000135.4(FANCA):c.3348+29C>T single nucleotide variant Fanconi anemia complementation group A [RCV003316334]|not specified [RCV000254433] Chr16:89748630 [GRCh38]
Chr16:89815038 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1819C>T (p.Leu607=) single nucleotide variant Fanconi anemia [RCV001493936] Chr16:89778808 [GRCh38]
Chr16:89845216 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-46T>A single nucleotide variant Fanconi anemia complementation group A [RCV003316332]|not specified [RCV000242198] Chr16:89765112 [GRCh38]
Chr16:89831520 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2779-7T>C single nucleotide variant Fanconi anemia [RCV000266830]|Fanconi anemia complementation group A [RCV001094433]|not provided [RCV001722284]|not specified [RCV000247204] Chr16:89762029 [GRCh38]
Chr16:89828437 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.2602-36G>T single nucleotide variant Fanconi anemia complementation group A [RCV001537682]|not specified [RCV000252136] Chr16:89765102 [GRCh38]
Chr16:89831510 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*1323G>A single nucleotide variant Fanconi anemia [RCV001510313]|Fanconi anemia complementation group A [RCV001537644]|not provided [RCV001618365]|not specified [RCV000242351] Chr16:89739569 [GRCh38]
Chr16:89805977 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3765+37G>A single nucleotide variant Fanconi anemia complementation group A [RCV003316338]|not provided [RCV001640468]|not specified [RCV000242361] Chr16:89742763 [GRCh38]
Chr16:89809171 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2151+8T>C single nucleotide variant Fanconi anemia [RCV000398159]|Fanconi anemia complementation group A [RCV001094356]|not specified [RCV000244957] Chr16:89771670 [GRCh38]
Chr16:89838078 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1471-12A>G single nucleotide variant Fanconi anemia [RCV001516753]|Fanconi anemia complementation group A [RCV000295581]|not provided [RCV001509534]|not specified [RCV000249843] Chr16:89783114 [GRCh38]
Chr16:89849522 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1627-32T>C single nucleotide variant Fanconi anemia complementation group A [RCV001537716]|not provided [RCV001689775]|not specified [RCV000247510] Chr16:89779989 [GRCh38]
Chr16:89846397 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2602-19G>C single nucleotide variant Fanconi anemia [RCV002057312]|Fanconi anemia complementation group A [RCV002494696]|not specified [RCV000247581] Chr16:89765085 [GRCh38]
Chr16:89831493 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.1226-20A>G single nucleotide variant Fanconi anemia [RCV001510316]|Fanconi anemia complementation group A [RCV001537719]|not specified [RCV000249965] Chr16:89791556 [GRCh38]
Chr16:89857964 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1777-29T>C single nucleotide variant Fanconi anemia complementation group A [RCV003316330]|not provided [RCV001594885]|not specified [RCV000252480] Chr16:89778879 [GRCh38]
Chr16:89845287 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1626+16C>T single nucleotide variant Fanconi anemia [RCV001520809]|Fanconi anemia complementation group A [RCV003316329]|not provided [RCV002264925]|not specified [RCV000252566] Chr16:89782843 [GRCh38]
Chr16:89849251 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.375C>T (p.Cys125=) single nucleotide variant Fanconi anemia [RCV000552147] Chr16:89810980 [GRCh38]
Chr16:89877388 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1084-29A>G single nucleotide variant Fanconi anemia complementation group A [RCV001537722]|not provided [RCV001689774]|not specified [RCV000245519] Chr16:89792097 [GRCh38]
Chr16:89858505 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1626+15G>C single nucleotide variant not specified [RCV000247998] Chr16:89782844 [GRCh38]
Chr16:89849252 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1084-49G>C single nucleotide variant Fanconi anemia complementation group A [RCV001537723]|not provided [RCV001618364]|not specified [RCV000250482] Chr16:89792117 [GRCh38]
Chr16:89858525 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.710-12A>G single nucleotide variant Fanconi anemia [RCV001520660]|Fanconi anemia complementation group A [RCV000333219]|not provided [RCV001536163]|not specified [RCV000252873] Chr16:89803353 [GRCh38]
Chr16:89869761 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2015-5C>T single nucleotide variant Fanconi anemia [RCV000867005]|Fanconi anemia complementation group A [RCV003316331]|not specified [RCV000252915] Chr16:89771819 [GRCh38]
Chr16:89838227 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) single nucleotide variant Fanconi anemia [RCV000384746]|Fanconi anemia complementation group A [RCV001094478]|not provided [RCV001722285]|not specified [RCV000245748] Chr16:89740825 [GRCh38]
Chr16:89807233 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3348+18A>G single nucleotide variant Fanconi anemia [RCV001521504]|Fanconi anemia complementation group A [RCV001256618]|not provided [RCV000513957]|not specified [RCV000248216] Chr16:89748641 [GRCh38]
Chr16:89815049 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) single nucleotide variant Fanconi anemia [RCV000456749]|Fanconi anemia complementation group A [RCV003316337]|not specified [RCV000245852] Chr16:89744994 [GRCh38]
Chr16:89811402 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3067-4T>C single nucleotide variant Fanconi anemia [RCV000364832]|Fanconi anemia complementation group A [RCV001094411]|not provided [RCV001706289]|not specified [RCV000248298] Chr16:89749906 [GRCh38]
Chr16:89816314 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) single nucleotide variant Fanconi anemia [RCV000398209]|Fanconi anemia complementation group A [RCV001094416]|not provided [RCV001636743]|not specified [RCV000248340] Chr16:89773344 [GRCh38]
Chr16:89839752 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) single nucleotide variant Fanconi anemia [RCV000379171]|Fanconi anemia complementation group A [RCV001094479]|not provided [RCV001706290]|not specified [RCV000250809] Chr16:89742911 [GRCh38]
Chr16:89809319 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001113525.2(ZNF276):c.1475-24A>G single nucleotide variant Fanconi anemia complementation group A [RCV000301856] Chr16:89737782 [GRCh38]
Chr16:89804190 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1007-7C>G single nucleotide variant FANCA-related condition [RCV003912331]|Fanconi anemia [RCV000302983]|Fanconi anemia complementation group A [RCV001094443] Chr16:89792554 [GRCh38]
Chr16:89858962 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113525.2(ZNF276):c.*68C>T single nucleotide variant Fanconi anemia complementation group A [RCV000288315]|not provided [RCV001597087] Chr16:89738314 [GRCh38]
Chr16:89804722 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001113525.2(ZNF276):c.1475-142T>C single nucleotide variant Fanconi anemia complementation group A [RCV000289149] Chr16:89737664 [GRCh38]
Chr16:89804072 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) single nucleotide variant Fanconi anemia [RCV000272707]|Fanconi anemia complementation group A [RCV001094412]|not provided [RCV002480144] Chr16:89758600 [GRCh38]
Chr16:89825008 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113525.2(ZNF276):c.1753A>G (p.Lys585Glu) single nucleotide variant Fanconi anemia complementation group A [RCV000275252] Chr16:89738154 [GRCh38]
Chr16:89804562 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) single nucleotide variant FANCA-related condition [RCV003922359]|Fanconi anemia [RCV000274943]|Fanconi anemia complementation group A [RCV001094307]|not specified [RCV001820959] Chr16:89805301 [GRCh38]
Chr16:89871709 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1901-3C>A single nucleotide variant Fanconi anemia [RCV000259319]|Fanconi anemia complementation group A [RCV001094419] Chr16:89773387 [GRCh38]
Chr16:89839795 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113525.2(ZNF276):c.*1313A>G single nucleotide variant FANCA-related condition [RCV003950093]|Fanconi anemia [RCV000276761]|Fanconi anemia complementation group A [RCV001094403]|not provided [RCV001508799]|not specified [RCV001820953] Chr16:89739559 [GRCh38]
Chr16:89805967 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) single nucleotide variant FANCA-related condition [RCV003950094]|Fanconi anemia [RCV000296465]|Fanconi anemia complementation group A [RCV001094355]|not provided [RCV003477892] Chr16:89770246 [GRCh38]
Chr16:89836654 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113525.2(ZNF276):c.1574+26del deletion Fanconi anemia [RCV000262165] Chr16:89737929 [GRCh38]
Chr16:89804337 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.1574+23del deletion Fanconi anemia [RCV000297540] Chr16:89737928 [GRCh38]
Chr16:89804336 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) single nucleotide variant Fanconi anemia [RCV000280680]|Fanconi anemia complementation group A [RCV000660417]|not provided [RCV001753780] Chr16:89808313 [GRCh38]
Chr16:89874721 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) single nucleotide variant Fanconi anemia [RCV001242774]|Fanconi anemia complementation group A [RCV000299065]|not provided [RCV001731595] Chr16:89739236 [GRCh38]
Chr16:89805644 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001113525.2(ZNF276):c.1575-29G>A single nucleotide variant Fanconi anemia complementation group A [RCV000319703] Chr16:89737947 [GRCh38]
Chr16:89804355 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.284-9G>C single nucleotide variant Fanconi anemia [RCV003635909]|Fanconi anemia complementation group A [RCV000341755] Chr16:89811080 [GRCh38]
Chr16:89877488 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) single nucleotide variant Fanconi anemia [RCV000342460]|Fanconi anemia complementation group A [RCV001094242]|not provided [RCV003477889] Chr16:89738667 [GRCh38]
Chr16:89805075 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1567-11C>A single nucleotide variant Fanconi anemia [RCV002056545]|Fanconi anemia complementation group A [RCV000270989] Chr16:89782929 [GRCh38]
Chr16:89849337 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) single nucleotide variant Fanconi anemia [RCV000343238]|Fanconi anemia complementation group A [RCV001094429]|not specified [RCV001820958] Chr16:89791943 [GRCh38]
Chr16:89858351 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3348+7G>T single nucleotide variant FANCA-related condition [RCV003940263]|Fanconi anemia [RCV000394021]|Fanconi anemia complementation group A [RCV000989671]|not provided [RCV000858420]|not specified [RCV001820954] Chr16:89748652 [GRCh38]
Chr16:89815060 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) single nucleotide variant Fanconi anemia [RCV000368836]|Fanconi anemia complementation group A [RCV001094402]|not provided [RCV003477891]|not specified [RCV001820952] Chr16:89739538 [GRCh38]
Chr16:89805946 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) single nucleotide variant Fanconi anemia [RCV000362805]|Fanconi anemia complementation group A [RCV001094405]|not provided [RCV003237825]|not specified [RCV002271490] Chr16:89740027 [GRCh38]
Chr16:89806435 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.21G>T (p.Pro7=) single nucleotide variant Fanconi anemia [RCV000395504]|Fanconi anemia complementation group A [RCV001094269]|not specified [RCV000502149] Chr16:89816595 [GRCh38]
Chr16:89883003 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001113525.2(ZNF276):c.1679G>A (p.Gly560Asp) single nucleotide variant Fanconi anemia complementation group A [RCV000367567] Chr16:89738080 [GRCh38]
Chr16:89804488 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2602-14A>C single nucleotide variant Fanconi anemia complementation group A [RCV000261053] Chr16:89765080 [GRCh38]
Chr16:89831488 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) single nucleotide variant Fanconi anemia [RCV003522958]|Fanconi anemia complementation group A [RCV000326012] Chr16:89783055 [GRCh38]
Chr16:89849463 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) single nucleotide variant Fanconi anemia [RCV000348439]|Fanconi anemia complementation group A [RCV001094415] Chr16:89773295 [GRCh38]
Chr16:89839703 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) single nucleotide variant Fanconi anemia [RCV002522902]|Fanconi anemia complementation group A [RCV000371929] Chr16:89810969 [GRCh38]
Chr16:89877377 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) single nucleotide variant Fanconi anemia [RCV001859906]|Fanconi anemia complementation group A [RCV000397164]|not provided [RCV003477890]|not specified [RCV003151026] Chr16:89738695 [GRCh38]
Chr16:89805103 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*209G>A single nucleotide variant Fanconi anemia complementation group A [RCV000397168] Chr16:89738455 [GRCh38]
Chr16:89804863 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1475-191C>T single nucleotide variant Fanconi anemia complementation group A [RCV000398134] Chr16:89737615 [GRCh38]
Chr16:89804023 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001113525.2(ZNF276):c.1475-48G>A single nucleotide variant Fanconi anemia complementation group A [RCV000398143] Chr16:89737758 [GRCh38]
Chr16:89804166 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) single nucleotide variant Fanconi anemia [RCV000350181]|Fanconi anemia complementation group A [RCV000765328] Chr16:89769946 [GRCh38]
Chr16:89836354 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3514-13G>A single nucleotide variant Fanconi anemia [RCV001482237]|Fanconi anemia complementation group A [RCV000374059]|not provided [RCV003237826] Chr16:89745084 [GRCh38]
Chr16:89811492 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3138C>T (p.His1046=) single nucleotide variant Fanconi anemia [RCV000398509]|Fanconi anemia complementation group A [RCV001094409]|not provided [RCV003422277] Chr16:89749831 [GRCh38]
Chr16:89816239 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) single nucleotide variant Fanconi anemia [RCV000306986]|not provided [RCV003477894] Chr16:89816557 [GRCh38]
Chr16:89882965 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) single nucleotide variant Fanconi anemia [RCV000307902]|Fanconi anemia complementation group A [RCV001094410]|not specified [RCV001820956] Chr16:89749855 [GRCh38]
Chr16:89816263 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) single nucleotide variant Fanconi anemia [RCV001424627]|Fanconi anemia complementation group A [RCV000399971] Chr16:89739489 [GRCh38]
Chr16:89805897 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001113525.2(ZNF276):c.1574+17A>C single nucleotide variant Fanconi anemia complementation group A [RCV000400382] Chr16:89737922 [GRCh38]
Chr16:89804330 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001113525.2(ZNF276):c.*2634C>T single nucleotide variant Fanconi anemia [RCV002056543]|Fanconi anemia complementation group A [RCV000283492] Chr16:89740880 [GRCh38]
Chr16:89807288 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2778+10C>T single nucleotide variant Fanconi anemia [RCV000324259]|Fanconi anemia complementation group A [RCV001094434]|not provided [RCV001256603] Chr16:89764880 [GRCh38]
Chr16:89831288 [GRCh37]
Chr16:16q24.3		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.-28C>G single nucleotide variant Fanconi anemia complementation group A [RCV000263016] Chr16:89816643 [GRCh38]
Chr16:89883051 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) single nucleotide variant Fanconi anemia [RCV001512541]|Fanconi anemia complementation group A [RCV000329509]|not specified [RCV001820957] Chr16:89778982 [GRCh38]
Chr16:89845390 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance
NM_001113525.2(ZNF276):c.1475-216G>A single nucleotide variant Fanconi anemia complementation group A [RCV000352248] Chr16:89737590 [GRCh38]
Chr16:89803998 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) single nucleotide variant Fanconi anemia [RCV000286700]|Fanconi anemia complementation group A [RCV001094364]|Inborn genetic diseases [RCV002522903] Chr16:89810999 [GRCh38]
Chr16:89877407 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001113525.2(ZNF276):c.*69G>A single nucleotide variant Fanconi anemia complementation group A [RCV000326973] Chr16:89738315 [GRCh38]
Chr16:89804723 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) single nucleotide variant Fanconi anemia [RCV000330085]|Fanconi anemia complementation group A [RCV001094308]|not provided [RCV001706516]|not specified [RCV001820960] Chr16:89805388 [GRCh38]
Chr16:89871796 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.1360-7C>T single nucleotide variant Fanconi anemia [RCV000331408]|Fanconi anemia complementation group A [RCV001094299]|not provided [RCV001706515]|not specified [RCV002480145] Chr16:89784971 [GRCh38]
Chr16:89851379 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.189+12C>G single nucleotide variant Fanconi anemia [RCV000403652] Chr16:89815865 [GRCh38]
Chr16:89882273 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) single nucleotide variant FANCA-related condition [RCV003912330]|Fanconi anemia [RCV000287104]|Fanconi anemia complementation group A [RCV001094249]|not provided [RCV000484383] Chr16:89745034 [GRCh38]
Chr16:89811442 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) single nucleotide variant FANCA-related condition [RCV003972373]|Fanconi anemia [RCV000384108]|Fanconi anemia complementation group A [RCV001094255]|Inborn genetic diseases [RCV002522901] Chr16:89779909 [GRCh38]
Chr16:89846317 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1815G>C (p.Glu605Asp) single nucleotide variant Fanconi anemia complementation group A [RCV000332779] Chr16:89738216 [GRCh38]
Chr16:89804624 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001113525.2(ZNF276):c.*38C>T single nucleotide variant Fanconi anemia complementation group A [RCV000389634] Chr16:89738284 [GRCh38]
Chr16:89804692 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) single nucleotide variant Fanconi anemia [RCV000337256]|Fanconi anemia complementation group A [RCV001094426] Chr16:89791434 [GRCh38]
Chr16:89857842 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) single nucleotide variant FANCA-related condition [RCV003910222]|Fanconi anemia [RCV000313365]|Fanconi anemia complementation group A [RCV001094354]|not specified [RCV001820955] Chr16:89748742 [GRCh38]
Chr16:89815150 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001113525.2(ZNF276):c.1574+17del deletion Fanconi anemia [RCV000359037] Chr16:89737922 [GRCh38]
Chr16:89804330 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*103C>G single nucleotide variant Fanconi anemia complementation group A [RCV000383919]|not provided [RCV001598653] Chr16:89738349 [GRCh38]
Chr16:89804757 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001113525.2(ZNF276):c.*201C>T single nucleotide variant Fanconi anemia complementation group A [RCV000339087]|not provided [RCV001712040] Chr16:89738447 [GRCh38]
Chr16:89804855 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1359+10C>T single nucleotide variant Fanconi anemia [RCV000385999]|Fanconi anemia complementation group A [RCV001094424]|not provided [RCV000514654]|not specified [RCV000501771] Chr16:89791393 [GRCh38]
Chr16:89857801 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.793-9T>C single nucleotide variant Fanconi anemia [RCV000363325]|Fanconi anemia complementation group A [RCV001094265]|not provided [RCV003477893]|not specified [RCV000501039] Chr16:89799647 [GRCh38]
Chr16:89866055 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2316+9C>T single nucleotide variant Fanconi anemia [RCV001458727]|Fanconi anemia complementation group A [RCV000388326]|not specified [RCV003151027] Chr16:89770157 [GRCh38]
Chr16:89836565 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1777-15C>G single nucleotide variant Fanconi anemia [RCV002522900]|Fanconi anemia complementation group A [RCV000265014] Chr16:89778865 [GRCh38]
Chr16:89845273 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) single nucleotide variant Fanconi anemia [RCV000348398] Chr16:89746887 [GRCh38]
Chr16:89813295 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1574+23T>C single nucleotide variant Fanconi anemia complementation group A [RCV000354689] Chr16:89737928 [GRCh38]
Chr16:89804336 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) single nucleotide variant Fanconi anemia [RCV001868923]|Fanconi anemia complementation group A [RCV003465654]|not provided [RCV000723238] Chr16:89744999 [GRCh38]
Chr16:89811407 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.1470+67C>G single nucleotide variant not provided [RCV001567386] Chr16:89784787 [GRCh38]
Chr16:89851195 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) single nucleotide variant Fanconi anemia [RCV001865499]|not provided [RCV000487984] Chr16:89765030 [GRCh38]
Chr16:89831438 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu) single nucleotide variant Fanconi anemia complementation group A [RCV002285083] Chr16:89791987 [GRCh38]
Chr16:89858395 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) single nucleotide variant Fanconi anemia [RCV000555471]|Fanconi anemia complementation group A [RCV002254702]|not provided [RCV003478120]|not specified [RCV001821477] Chr16:89758702 [GRCh38]
Chr16:89825110 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) single nucleotide variant Fanconi anemia [RCV000526450]|Fanconi anemia complementation group A [RCV002497047]|not specified [RCV001821474] Chr16:89779901 [GRCh38]
Chr16:89846309 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.597-80del deletion not provided [RCV001574671] Chr16:89805472 [GRCh38]
Chr16:89871880 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*189C>T single nucleotide variant Fanconi anemia [RCV000291114] Chr16:89738435 [GRCh38]
Chr16:89804843 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1475-56C>T single nucleotide variant Fanconi anemia complementation group A [RCV000346420] Chr16:89737750 [GRCh38]
Chr16:89804158 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1901-9T>G single nucleotide variant Fanconi anemia [RCV002522899]|Fanconi anemia complementation group A [RCV000305138] Chr16:89773393 [GRCh38]
Chr16:89839801 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001113525.2(ZNF276):c.1475-217T>C single nucleotide variant Fanconi anemia complementation group A [RCV000294543] Chr16:89737589 [GRCh38]
Chr16:89803997 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2505A>G (p.Lys835=) single nucleotide variant Fanconi anemia [RCV000528755] Chr16:89767237 [GRCh38]
Chr16:89833645 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) single nucleotide variant Fanconi anemia [RCV002056544]|Fanconi anemia complementation group A [RCV000335715] Chr16:89745054 [GRCh38]
Chr16:89811462 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3184_3186delinsTGCC (p.Gly1062fs) indel Fanconi anemia complementation group A [RCV001781080] Chr16:89749783..89749785 [GRCh38]
Chr16:89816191..89816193 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) single nucleotide variant Fanconi anemia [RCV002521077]|Fanconi anemia complementation group A [RCV000989673] Chr16:89805294 [GRCh38]
Chr16:89871702 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) single nucleotide variant Fanconi anemia complementation group A [RCV000322157] Chr16:89742864 [GRCh38]
Chr16:89809272 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro) single nucleotide variant Fanconi anemia complementation group A [RCV000375388] Chr16:89808300 [GRCh38]
Chr16:89874708 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) single nucleotide variant Fanconi anemia [RCV002522898]|Fanconi anemia complementation group A [RCV000375449] Chr16:89767172 [GRCh38]
Chr16:89833580 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) single nucleotide variant Fanconi anemia complementation group A [RCV000395518] Chr16:89816542 [GRCh38]
Chr16:89882950 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) single nucleotide variant Fanconi anemia [RCV002061214]|Fanconi anemia complementation group A [RCV000327839] Chr16:89740807 [GRCh38]
Chr16:89807215 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly) single nucleotide variant Fanconi anemia [RCV000548742] Chr16:89791486 [GRCh38]
Chr16:89857894 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) single nucleotide variant Fanconi anemia [RCV002257641]|Fanconi anemia complementation group A [RCV000344436] Chr16:89770583 [GRCh38]
Chr16:89836991 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1826+4T>A single nucleotide variant Fanconi anemia [RCV001223816]|Fanconi anemia complementation group A [RCV001120468] Chr16:89778797 [GRCh38]
Chr16:89845205 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2222+9G>A single nucleotide variant Fanconi anemia [RCV000550117] Chr16:89770555 [GRCh38]
Chr16:89836963 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2502G>A (p.Leu834=) single nucleotide variant FANCA-related condition [RCV003900107]|Fanconi anemia [RCV000550322]|Fanconi anemia complementation group A [RCV003316675] Chr16:89769839 [GRCh38]
Chr16:89836247 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=) single nucleotide variant FANCA-related condition [RCV003900108]|Fanconi anemia [RCV000531805]|not provided [RCV003478121]|not specified [RCV001821480] Chr16:89742896 [GRCh38]
Chr16:89809304 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr) single nucleotide variant Fanconi anemia [RCV000554795]|Fanconi anemia complementation group A [RCV002476092] Chr16:89805298 [GRCh38]
Chr16:89871706 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2915G>C (p.Gly972Ala) single nucleotide variant not provided [RCV000593339] Chr16:89758643 [GRCh38]
Chr16:89825051 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) single nucleotide variant Fanconi anemia [RCV000555138]|Fanconi anemia complementation group A [RCV002476088]|not provided [RCV002293448] Chr16:89775771 [GRCh38]
Chr16:89842179 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3409-6C>G single nucleotide variant Fanconi anemia [RCV000551856] Chr16:89746694 [GRCh38]
Chr16:89813102 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) single nucleotide variant Fanconi anemia [RCV001243169]|Fanconi anemia complementation group A [RCV002483594]|not provided [RCV000593561] Chr16:89803273 [GRCh38]
Chr16:89869681 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) single nucleotide variant Fanconi anemia [RCV000532839]|Fanconi anemia complementation group A [RCV001330801]|not specified [RCV001821478] Chr16:89752204 [GRCh38]
Chr16:89818612 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) single nucleotide variant Fanconi anemia [RCV000552747] Chr16:89814538 [GRCh38]
Chr16:89880946 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.10:g.(?_89810697)_(89816625_?)del deletion Fanconi anemia [RCV000817929] Chr16:89810697..89816625 [GRCh38]
Chr16:89877105..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe) single nucleotide variant FANCA-related condition [RCV003898119]|Fanconi anemia [RCV002558192]|Fanconi anemia complementation group A [RCV001120263]|not provided [RCV003480964] Chr16:89792002 [GRCh38]
Chr16:89858410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) single nucleotide variant Fanconi anemia [RCV001865263]|Fanconi anemia complementation group A [RCV000409455]|not provided [RCV003126717] Chr16:89811060 [GRCh38]
Chr16:89877468 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.80-200C>T single nucleotide variant not provided [RCV001564653] Chr16:89816186 [GRCh38]
Chr16:89882594 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) single nucleotide variant Fanconi anemia [RCV001245476]|Fanconi anemia complementation group A [RCV000409456] Chr16:89815912 [GRCh38]
Chr16:89882320 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) single nucleotide variant Fanconi anemia [RCV001223227]|Fanconi anemia complementation group A [RCV000410151]|not provided [RCV001509537] Chr16:89799620 [GRCh38]
Chr16:89866028 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) microsatellite Fanconi anemia complementation group A [RCV000411410]|See cases [RCV002252108] Chr16:89742803..89742804 [GRCh38]
Chr16:89809211..89809212 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89775736)_(89775821_?)del deletion Fanconi anemia [RCV000557029] Chr16:89775736..89775821 [GRCh38]
Chr16:89842144..89842229 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.660G>C (p.Gln220His) single nucleotide variant Fanconi anemia [RCV000539906] Chr16:89805329 [GRCh38]
Chr16:89871737 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) single nucleotide variant FANCA-related condition [RCV003960255]|Fanconi anemia [RCV000538744]|Fanconi anemia complementation group A [RCV001115462]|not specified [RCV001800737] Chr16:89767153 [GRCh38]
Chr16:89833561 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.793-1G>A single nucleotide variant not provided [RCV000732477] Chr16:89799639 [GRCh38]
Chr16:89866047 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1900+7T>A single nucleotide variant FANCA-related condition [RCV003960254]|Fanconi anemia [RCV000557762]|Fanconi anemia complementation group A [RCV002490944]|not provided [RCV003326450]|not specified [RCV001821475] Chr16:89775735 [GRCh38]
Chr16:89842143 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) single nucleotide variant Fanconi anemia [RCV000560274]|Fanconi anemia complementation group A [RCV001120563] Chr16:89795959 [GRCh38]
Chr16:89862367 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.596+6G>A single nucleotide variant Fanconi anemia [RCV000539715]|not provided [RCV003478124] Chr16:89808288 [GRCh38]
Chr16:89874696 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp) single nucleotide variant Fanconi anemia [RCV000540610] Chr16:89761975 [GRCh38]
Chr16:89828383 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) single nucleotide variant Fanconi anemia [RCV000540829]|not specified [RCV001821473] Chr16:89783036 [GRCh38]
Chr16:89849444 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.1740G>A (p.Val580=) single nucleotide variant Fanconi anemia [RCV000541173] Chr16:89778979 [GRCh38]
Chr16:89845387 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) single nucleotide variant Fanconi anemia [RCV000548806]|Fanconi anemia complementation group A [RCV000674060] Chr16:89795948 [GRCh38]
Chr16:89862356 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele deletion Fanconi anemia complementation group A [RCV000454211] Chr16:89831038..89836251 [GRCh37]
Chr16:16q24.3		 likely pathogenic
Single allele deletion Fanconi anemia complementation group A [RCV000454303] Chr16:89837200..89847471 [GRCh37]
Chr16:16q24.3		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val) single nucleotide variant Fanconi anemia [RCV000697851] Chr16:89778969 [GRCh38]
Chr16:89845377 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89836157-89928761)x3 copy number gain See cases [RCV000445967] Chr16:89836157..89928761 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3468G>A (p.Leu1156=) single nucleotide variant not specified [RCV000427730] Chr16:89746629 [GRCh38]
Chr16:89813037 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly) single nucleotide variant Fanconi anemia [RCV001828392]|not provided [RCV000420931] Chr16:89748663 [GRCh38]
Chr16:89815071 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) single nucleotide variant FANCA-related condition [RCV003902464]|Fanconi anemia [RCV001080884]|Fanconi anemia complementation group A [RCV001120358]|not provided [RCV000431238]|not specified [RCV001821151] Chr16:89758699 [GRCh38]
Chr16:89825107 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) single nucleotide variant not provided [RCV000432541] Chr16:89783084 [GRCh38]
Chr16:89849492 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1421T>C (p.Phe474Ser) single nucleotide variant not provided [RCV000423380] Chr16:89784903 [GRCh38]
Chr16:89851311 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89880964-90133246)x3 copy number gain See cases [RCV000448757] Chr16:89880964..90133246 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:88985997-89962916)x3 copy number gain See cases [RCV000447971] Chr16:88985997..89962916 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) single nucleotide variant Fanconi anemia [RCV000458944]|Fanconi anemia complementation group A [RCV000765320]|Microcephaly [RCV001252734] Chr16:89738917 [GRCh38]
Chr16:89805325 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) single nucleotide variant FANCA-related condition [RCV003970325]|Fanconi anemia [RCV000458962]|Fanconi anemia complementation group A [RCV001276506]|not provided [RCV001764459]|not specified [RCV001821345] Chr16:89749786 [GRCh38]
Chr16:89816194 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) single nucleotide variant Fanconi anemia [RCV000466659]|Fanconi anemia complementation group A [RCV001118714]|not provided [RCV001172102]|not specified [RCV000503748] Chr16:89810978 [GRCh38]
Chr16:89877386 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) single nucleotide variant Fanconi anemia [RCV000470237]|Fanconi anemia complementation group A [RCV001276503]|not provided [RCV002480394] Chr16:89748710 [GRCh38]
Chr16:89815118 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2904G>T (p.Ser968=) single nucleotide variant Fanconi anemia [RCV001406842] Chr16:89758654 [GRCh38]
Chr16:89825062 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) deletion Fanconi anemia [RCV000459195]|Fanconi anemia complementation group A [RCV000671841]|not provided [RCV003477954] Chr16:89815893..89815898 [GRCh38]
Chr16:89882301..89882306 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) single nucleotide variant Fanconi anemia [RCV000470449]|not provided [RCV003237862] Chr16:89816593 [GRCh38]
Chr16:89883001 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) single nucleotide variant Fanconi anemia [RCV000461194]|Fanconi anemia complementation group A [RCV002489041] Chr16:89816570 [GRCh38]
Chr16:89882978 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) single nucleotide variant FANCA-related condition [RCV003401525]|Fanconi anemia [RCV000813304]|Fanconi anemia complementation group A [RCV000500885]|not provided [RCV000479566] Chr16:89744961 [GRCh38]
Chr16:89811369 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2124G>A (p.Thr708=) single nucleotide variant Fanconi anemia [RCV000463197] Chr16:89771705 [GRCh38]
Chr16:89838113 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2478G>A (p.Thr826=) single nucleotide variant FANCA-related condition [RCV003932744]|Fanconi anemia [RCV000463356]|not provided [RCV003478010] Chr16:89769863 [GRCh38]
Chr16:89836271 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) single nucleotide variant Fanconi anemia [RCV000466964]|Fanconi anemia complementation group A [RCV000669024] Chr16:89761950 [GRCh38]
Chr16:89828358 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) single nucleotide variant Fanconi anemia [RCV000468131]|Fanconi anemia complementation group A [RCV001256571] Chr16:89783098 [GRCh38]
Chr16:89849506 [GRCh37]
Chr16:16q24.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) single nucleotide variant Fanconi anemia [RCV000459562]|Fanconi anemia complementation group A [RCV000779200]|not provided [RCV001557545] Chr16:89738943 [GRCh38]
Chr16:89805351 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) single nucleotide variant Fanconi anemia [RCV000459598]|Fanconi anemia complementation group A [RCV002480395]|not provided [RCV003477953] Chr16:89742847 [GRCh38]
Chr16:89809255 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.661A>G (p.Met221Val) single nucleotide variant Fanconi anemia [RCV000463486]|Fanconi anemia complementation group A [RCV001274656]|not provided [RCV002269275] Chr16:89805328 [GRCh38]
Chr16:89871736 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) single nucleotide variant Fanconi anemia [RCV000467178]|Fanconi anemia complementation group A [RCV001119964]|not specified [RCV001821343] Chr16:89740037 [GRCh38]
Chr16:89806445 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) single nucleotide variant Fanconi anemia [RCV000467191]|not provided [RCV003478013] Chr16:89770614 [GRCh38]
Chr16:89837022 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) single nucleotide variant Fanconi anemia [RCV000470873]|Fanconi anemia complementation group A [RCV001274663] Chr16:89815888 [GRCh38]
Chr16:89882296 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*470A>C single nucleotide variant Fanconi anemia [RCV000470927]|not provided [RCV002261091]|not specified [RCV001821344] Chr16:89738716 [GRCh38]
Chr16:89805124 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000016.10:g.(?_89752138)_(89792547_?)del deletion Fanconi anemia [RCV000471028] Chr16:89752138..89792547 [GRCh38]
Chr16:89818546..89858955 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) single nucleotide variant Fanconi anemia [RCV000474702]|Fanconi anemia complementation group A [RCV002489043] Chr16:89767141 [GRCh38]
Chr16:89833549 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) single nucleotide variant FANCA-related condition [RCV003418176]|Fanconi anemia [RCV000474793]|Fanconi anemia complementation group A [RCV000765324]|not provided [RCV001579530]|not specified [RCV000499924] Chr16:89746667 [GRCh38]
Chr16:89813075 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr) single nucleotide variant Fanconi anemia [RCV000474361] Chr16:89770243 [GRCh38]
Chr16:89836651 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3655G>A (p.Ala1219Thr) single nucleotide variant not provided [RCV000484333] Chr16:89742910 [GRCh38]
Chr16:89809318 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89880928)_(89883065_?)dup duplication Fanconi anemia [RCV000456341] Chr16:89814520..89816657 [GRCh38]
Chr16:89880928..89883065 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro) single nucleotide variant FANCA-related condition [RCV003401472]|Fanconi anemia [RCV000471159] Chr16:89799619 [GRCh38]
Chr16:89866027 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1827-1G>A single nucleotide variant Fanconi anemia [RCV000471236]|Fanconi anemia complementation group A [RCV000667190] Chr16:89775816 [GRCh38]
Chr16:89842224 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) single nucleotide variant Fanconi anemia [RCV000471304]|Fanconi anemia complementation group A [RCV002496759] Chr16:89796004 [GRCh38]
Chr16:89862412 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.709+5G>A single nucleotide variant Fanconi anemia [RCV000474895]|Fanconi anemia complementation group A [RCV000673202]|not provided [RCV001821265] Chr16:89805275 [GRCh38]
Chr16:89871683 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4260+1G>A single nucleotide variant Fanconi anemia [RCV000460272]|Fanconi anemia complementation group A [RCV000672332] Chr16:89738881 [GRCh38]
Chr16:89805289 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe) single nucleotide variant Fanconi anemia [RCV000463828]|Inborn genetic diseases [RCV002525563]|not provided [RCV002464202] Chr16:89739551 [GRCh38]
Chr16:89805959 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) single nucleotide variant FANCA-related condition [RCV003960075]|Fanconi anemia [RCV000463871]|Fanconi anemia complementation group A [RCV001292767]|Inborn genetic diseases [RCV002525658]|not provided [RCV002475905] Chr16:89738666 [GRCh38]
Chr16:89805074 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) single nucleotide variant Fanconi anemia [RCV000463994]|Fanconi anemia complementation group A [RCV002496760] Chr16:89742867 [GRCh38]
Chr16:89809275 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1901-5C>G single nucleotide variant Fanconi anemia [RCV001433586] Chr16:89773389 [GRCh38]
Chr16:89839797 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) single nucleotide variant Fanconi anemia [RCV000464366]|Fanconi anemia complementation group A [RCV001256354] Chr16:89791458 [GRCh38]
Chr16:89857866 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) single nucleotide variant FANCA-related condition [RCV003899916]|Fanconi anemia [RCV000475702]|Fanconi anemia complementation group A [RCV002489044]|not specified [RCV001821267] Chr16:89758590 [GRCh38]
Chr16:89824998 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.709+1G>C single nucleotide variant Fanconi anemia [RCV001223396]|not provided [RCV000484076] Chr16:89805279 [GRCh38]
Chr16:89871687 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe) single nucleotide variant Fanconi anemia [RCV000457111] Chr16:89783093 [GRCh38]
Chr16:89849501 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) single nucleotide variant FANCA-related condition [RCV003902647]|Fanconi anemia [RCV000464585]|Fanconi anemia complementation group A [RCV001276567]|Inborn genetic diseases [RCV002526413]|not provided [RCV002264943] Chr16:89810978 [GRCh38]
Chr16:89877386 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) single nucleotide variant Fanconi anemia [RCV000475930] Chr16:89773304 [GRCh38]
Chr16:89839712 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) single nucleotide variant Fanconi anemia [RCV000464795]|Fanconi anemia complementation group A [RCV001274507] Chr16:89738890 [GRCh38]
Chr16:89805298 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2505-10_2505-9del deletion Fanconi anemia [RCV001497510] Chr16:89767246..89767247 [GRCh38]
Chr16:89833654..89833655 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) single nucleotide variant Fanconi anemia [RCV000465004]|Fanconi anemia complementation group A [RCV003153618]|not provided [RCV001508800] Chr16:89740078 [GRCh38]
Chr16:89806486 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) single nucleotide variant Fanconi anemia [RCV000468669]|Fanconi anemia complementation group A [RCV001274513] Chr16:89739187 [GRCh38]
Chr16:89805595 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) single nucleotide variant Fanconi anemia [RCV001506201]|Fanconi anemia complementation group A [RCV002506151] Chr16:89779883 [GRCh38]
Chr16:89846291 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) single nucleotide variant Fanconi anemia [RCV000472481]|Fanconi anemia complementation group A [RCV001276510]|not provided [RCV001509531]|not specified [RCV001821268] Chr16:89749812 [GRCh38]
Chr16:89816220 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys) single nucleotide variant Fanconi anemia [RCV000457577] Chr16:89815933 [GRCh38]
Chr16:89882341 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) single nucleotide variant Fanconi anemia [RCV000468822]|Fanconi anemia complementation group A [RCV002496761]|not provided [RCV003477955] Chr16:89805304 [GRCh38]
Chr16:89871712 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His) single nucleotide variant Fanconi anemia [RCV000476511] Chr16:89749811 [GRCh38]
Chr16:89816219 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.87G>A (p.Arg29=) single nucleotide variant Fanconi anemia [RCV000457883]|Fanconi anemia complementation group A [RCV001120658] Chr16:89815979 [GRCh38]
Chr16:89882387 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) single nucleotide variant Fanconi anemia [RCV000465485]|Fanconi anemia complementation group A [RCV003243136]|not provided [RCV001091061] Chr16:89764919 [GRCh38]
Chr16:89831327 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) single nucleotide variant FANCA-related condition [RCV003424019]|Fanconi anemia [RCV000469035]|Fanconi anemia complementation group A [RCV001274568]|not provided [RCV001573434] Chr16:89749870 [GRCh38]
Chr16:89816278 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.81G>A (p.Ala27=) single nucleotide variant Fanconi anemia [RCV000469082]|Fanconi anemia complementation group A [RCV001764407]|not provided [RCV003237863] Chr16:89815985 [GRCh38]
Chr16:89882393 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) single nucleotide variant FANCA-related condition [RCV003418177]|Fanconi anemia [RCV000476740]|Fanconi anemia complementation group A [RCV000765329] Chr16:89778947 [GRCh38]
Chr16:89845355 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) single nucleotide variant Fanconi anemia [RCV000458018]|Fanconi anemia complementation group A [RCV001274572] Chr16:89769909 [GRCh38]
Chr16:89836317 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) single nucleotide variant Fanconi anemia [RCV000461751]|Fanconi anemia complementation group A [RCV001578975] Chr16:89739539 [GRCh38]
Chr16:89805947 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) single nucleotide variant FANCA-related condition [RCV003960076]|Fanconi anemia [RCV000473020]|Fanconi anemia complementation group A [RCV003316604]|not provided [RCV003478012] Chr16:89769977 [GRCh38]
Chr16:89836385 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.324C>T (p.Pro108=) single nucleotide variant Fanconi anemia [RCV000473141] Chr16:89811031 [GRCh38]
Chr16:89877439 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) single nucleotide variant Fanconi anemia [RCV000476812]|Fanconi anemia complementation group A [RCV002489042]|not provided [RCV003317216] Chr16:89784900 [GRCh38]
Chr16:89851308 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr) single nucleotide variant Fanconi anemia [RCV000553853] Chr16:89799224 [GRCh38]
Chr16:89865632 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val) single nucleotide variant Fanconi anemia [RCV000458214] Chr16:89739216 [GRCh38]
Chr16:89805624 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) single nucleotide variant Fanconi anemia [RCV000458274]|Fanconi anemia complementation group A [RCV002481493]|not specified [RCV002475906] Chr16:89770190 [GRCh38]
Chr16:89836598 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln) single nucleotide variant Fanconi anemia [RCV000465934] Chr16:89740070 [GRCh38]
Chr16:89806478 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) single nucleotide variant Fanconi anemia [RCV000458688]|Fanconi anemia complementation group A [RCV000765326]|not provided [RCV003477952]|not specified [RCV001821266] Chr16:89749788 [GRCh38]
Chr16:89816196 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2546del (p.Ser849fs) deletion Fanconi anemia [RCV000470001]|Fanconi anemia complementation group A [RCV001271597] Chr16:89767196 [GRCh38]
Chr16:89833604 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) single nucleotide variant Fanconi anemia [RCV000470025]|Fanconi anemia complementation group A [RCV001256403]|Ovarian cancer [RCV003153654]|not provided [RCV003478011] Chr16:89752173 [GRCh38]
Chr16:89818581 [GRCh37]
Chr16:16q24.3		 likely pathogenic|benign|likely benign
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val) single nucleotide variant Fanconi anemia [RCV000473885] Chr16:89792482 [GRCh38]
Chr16:89858890 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp) single nucleotide variant Fanconi anemia [RCV002524182]|Fanconi anemia complementation group A [RCV002481612]|not specified [RCV000503436] Chr16:89792506 [GRCh38]
Chr16:89858914 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1811T>C (p.Ile604Thr) single nucleotide variant not specified [RCV000503565] Chr16:89778816 [GRCh38]
Chr16:89845224 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2151+1G>A single nucleotide variant Fanconi anemia complementation group A [RCV000501439] Chr16:89771677 [GRCh38]
Chr16:89838085 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu) single nucleotide variant Fanconi anemia [RCV001063236]|not specified [RCV000503960] Chr16:89811054 [GRCh38]
Chr16:89877462 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1620T>C (p.Ile540=) single nucleotide variant Fanconi anemia [RCV002060115]|not specified [RCV000499440] Chr16:89782865 [GRCh38]
Chr16:89849273 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1776+1G>A single nucleotide variant Fanconi anemia [RCV000685268]|Fanconi anemia complementation group A [RCV003464113]|not provided [RCV000523348] Chr16:89778942 [GRCh38]
Chr16:89845350 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) single nucleotide variant Fanconi anemia [RCV001857096]|Fanconi anemia complementation group A [RCV000499830] Chr16:89791422 [GRCh38]
Chr16:89857830 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) single nucleotide variant Fanconi anemia [RCV001380594]|Fanconi anemia complementation group A [RCV000499975] Chr16:89769943 [GRCh38]
Chr16:89836351 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn) single nucleotide variant FANCA-related condition [RCV003960164]|Fanconi anemia [RCV000917348]|not provided [RCV002476005]|not specified [RCV000502256] Chr16:89803297 [GRCh38]
Chr16:89869705 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.805G>T (p.Val269Leu) single nucleotide variant not specified [RCV000500176] Chr16:89799626 [GRCh38]
Chr16:89866034 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.342C>T (p.Ala114=) single nucleotide variant Fanconi anemia [RCV000867878]|Fanconi anemia complementation group A [RCV003316647]|not specified [RCV000502474] Chr16:89811013 [GRCh38]
Chr16:89877421 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1A>G (p.Met1Val) single nucleotide variant Fanconi anemia [RCV001383377]|Fanconi anemia complementation group A [RCV000500370] Chr16:89816615 [GRCh38]
Chr16:89883023 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2222+7G>A single nucleotide variant FANCA-related condition [RCV003942632]|Fanconi anemia [RCV000864671]|Fanconi anemia complementation group A [RCV001276548]|not specified [RCV000502652] Chr16:89770557 [GRCh38]
Chr16:89836965 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2601+1G>T single nucleotide variant Fanconi anemia [RCV001851411]|Fanconi anemia complementation group A [RCV000502863] Chr16:89767140 [GRCh38]
Chr16:89833548 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2601+9A>T single nucleotide variant Fanconi anemia [RCV000868476]|not specified [RCV000502806] Chr16:89767132 [GRCh38]
Chr16:89833540 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) single nucleotide variant Fanconi anemia [RCV000630890]|Fanconi anemia complementation group A [RCV000503023]|not provided [RCV003478070] Chr16:89746615 [GRCh38]
Chr16:89813023 [GRCh37]
Chr16:16q24.3		 likely pathogenic|likely benign|uncertain significance
NM_000135.4(FANCA):c.2942G>C (p.Cys981Ser) single nucleotide variant Fanconi anemia [RCV001851410]|not specified [RCV000500772] Chr16:89758616 [GRCh38]
Chr16:89825024 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1359+5G>C single nucleotide variant Fanconi anemia [RCV001221856]|Fanconi anemia complementation group A [RCV002481567]|not provided [RCV000494125] Chr16:89791398 [GRCh38]
Chr16:89857806 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) single nucleotide variant Fanconi anemia [RCV001857267]|Fanconi anemia complementation group A [RCV001276558]|not specified [RCV000505911] Chr16:89792505 [GRCh38]
Chr16:89858913 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) single nucleotide variant Fanconi anemia [RCV001219227]|Fanconi anemia complementation group A [RCV000666624]|not provided [RCV000494388] Chr16:89739517 [GRCh38]
Chr16:89805925 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1226-2A>G single nucleotide variant Fanconi anemia [RCV000701341]|Fanconi anemia complementation group A [RCV000667573]|not specified [RCV000507098] Chr16:89791538 [GRCh38]
Chr16:89857946 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3		 likely pathogenic
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile) single nucleotide variant Fanconi anemia [RCV001365540]|not specified [RCV000508185] Chr16:89791517 [GRCh38]
Chr16:89857925 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala) single nucleotide variant Fanconi anemia [RCV001834601]|not provided [RCV000493395] Chr16:89739183 [GRCh38]
Chr16:89805591 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro) single nucleotide variant Fanconi anemia [RCV000699091]|Fanconi anemia complementation group A [RCV002485712] Chr16:89746878 [GRCh38]
Chr16:89813286 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) single nucleotide variant Fanconi anemia [RCV000699108]|Fanconi anemia complementation group A [RCV001276512]|not provided [RCV003148833]|not specified [RCV001816722] Chr16:89752172 [GRCh38]
Chr16:89818580 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.80-1G>T single nucleotide variant Fanconi anemia complementation group A [RCV000669616] Chr16:89815987 [GRCh38]
Chr16:89882395 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2982-1G>C single nucleotide variant Fanconi anemia [RCV000688900]|Fanconi anemia complementation group A [RCV000669707] Chr16:89752223 [GRCh38]
Chr16:89818631 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) single nucleotide variant Fanconi anemia complementation group A [RCV000669932] Chr16:89739225 [GRCh38]
Chr16:89805633 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.874C>G (p.His292Asp) single nucleotide variant Fanconi anemia [RCV000532298]|Fanconi anemia complementation group A [RCV000764090]|not provided [RCV001797096] Chr16:89799185 [GRCh38]
Chr16:89865593 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) single nucleotide variant Fanconi anemia [RCV000527193]|Fanconi anemia complementation group A [RCV000673548] Chr16:89795941 [GRCh38]
Chr16:89862349 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) single nucleotide variant Fanconi anemia [RCV001861771]|Fanconi anemia complementation group A [RCV000668991] Chr16:89816615 [GRCh38]
Chr16:89883023 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) deletion Fanconi anemia complementation group A [RCV000669083] Chr16:89739494..89739499 [GRCh38]
Chr16:89805902..89805907 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) single nucleotide variant Fanconi anemia [RCV000630849]|Fanconi anemia complementation group A [RCV001271599]|not provided [RCV002461940]|not specified [RCV001821773] Chr16:89769951 [GRCh38]
Chr16:89836359 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) single nucleotide variant Fanconi anemia [RCV000630873]|Fanconi anemia complementation group A [RCV001256405] Chr16:89745004 [GRCh38]
Chr16:89811412 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser) single nucleotide variant Fanconi anemia [RCV000630891] Chr16:89742913 [GRCh38]
Chr16:89809321 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln) single nucleotide variant Fanconi anemia [RCV000630896] Chr16:89744974 [GRCh38]
Chr16:89811382 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) single nucleotide variant FANCA-related condition [RCV003945583]|Fanconi anemia [RCV000630927]|Fanconi anemia complementation group A [RCV001120168]|not provided [RCV001771851] Chr16:89773381 [GRCh38]
Chr16:89839789 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) single nucleotide variant Fanconi anemia [RCV000630994] Chr16:89791949 [GRCh38]
Chr16:89858357 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) single nucleotide variant Fanconi anemia [RCV000631010]|Fanconi anemia complementation group A [RCV001120560] Chr16:89792009 [GRCh38]
Chr16:89858417 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.10:g.(?_89767135)_(89816621_?)del deletion Fanconi anemia [RCV000631042] Chr16:89767135..89816621 [GRCh38]
Chr16:89833543..89883029 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) duplication Fanconi anemia [RCV000555905]|Fanconi anemia complementation group A [RCV002497048] Chr16:89778817..89778818 [GRCh38]
Chr16:89845225..89845226 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly) single nucleotide variant Fanconi anemia [RCV000542097] Chr16:89742879 [GRCh38]
Chr16:89809287 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr) single nucleotide variant Fanconi anemia [RCV000534176] Chr16:89815971 [GRCh38]
Chr16:89882379 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) single nucleotide variant Fanconi anemia [RCV001231124]|Fanconi anemia complementation group A [RCV000578451] Chr16:89810802 [GRCh38]
Chr16:89877210 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.924C>T (p.Gly308=) single nucleotide variant FANCA-related condition [RCV003900109]|Fanconi anemia [RCV000534781] Chr16:89795988 [GRCh38]
Chr16:89862396 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) single nucleotide variant Fanconi anemia [RCV000630875]|Fanconi anemia complementation group A [RCV001274154]|Inborn genetic diseases [RCV002533173] Chr16:89791447 [GRCh38]
Chr16:89857855 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) single nucleotide variant Fanconi anemia [RCV000630911]|Fanconi anemia complementation group A [RCV001271605]|not provided [RCV001756040] Chr16:89771800 [GRCh38]
Chr16:89838208 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) single nucleotide variant Fanconi anemia [RCV000535221]|Fanconi anemia complementation group A [RCV002483352] Chr16:89770576 [GRCh38]
Chr16:89836984 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) single nucleotide variant Fanconi anemia [RCV000630946]|Fanconi anemia complementation group A [RCV001274554]|Inborn genetic diseases [RCV002528848]|not provided [RCV002261136] Chr16:89740078 [GRCh38]
Chr16:89806486 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) single nucleotide variant Fanconi anemia [RCV000630961]|Fanconi anemia complementation group A [RCV000666705]|not provided [RCV001569733] Chr16:89761949 [GRCh38]
Chr16:89828357 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1461G>A (p.Arg487=) single nucleotide variant Fanconi anemia [RCV000631027] Chr16:89784863 [GRCh38]
Chr16:89851271 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3240-3C>T single nucleotide variant Fanconi anemia [RCV000558227]|Fanconi anemia complementation group A [RCV001276504] Chr16:89748770 [GRCh38]
Chr16:89815178 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.827-1G>C single nucleotide variant Fanconi anemia complementation group A [RCV000671987] Chr16:89799233 [GRCh38]
Chr16:89865641 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=) single nucleotide variant Fanconi anemia [RCV000536353] Chr16:89738643 [GRCh38]
Chr16:89805051 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) microsatellite Fanconi anemia [RCV000540300]|Fanconi anemia complementation group A [RCV001276496] Chr16:89745063..89745065 [GRCh38]
Chr16:89811471..89811473 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser) single nucleotide variant Fanconi anemia [RCV000559214] Chr16:89758599 [GRCh38]
Chr16:89825007 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) single nucleotide variant Fanconi anemia [RCV000536967] Chr16:89748691 [GRCh38]
Chr16:89815099 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1313C>T (p.Ala438Val) single nucleotide variant Inborn genetic diseases [RCV003295574] Chr16:89791449 [GRCh38]
Chr16:89857857 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1360-4A>G single nucleotide variant Fanconi anemia [RCV000537057]|Fanconi anemia complementation group A [RCV002506289] Chr16:89784968 [GRCh38]
Chr16:89851376 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly) single nucleotide variant Fanconi anemia [RCV000537221]|Inborn genetic diseases [RCV002528303] Chr16:89738696 [GRCh38]
Chr16:89805104 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2317-8C>T single nucleotide variant FANCA-related condition [RCV003935399]|Fanconi anemia [RCV000560100]|Fanconi anemia complementation group A [RCV002497050]|not provided [RCV003478118]|not specified [RCV001821476] Chr16:89770032 [GRCh38]
Chr16:89836440 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu) single nucleotide variant Fanconi anemia [RCV000555551] Chr16:89783009 [GRCh38]
Chr16:89849417 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) microsatellite Fanconi anemia [RCV000556612]|Fanconi anemia complementation group A [RCV000668910] Chr16:89795995..89795996 [GRCh38]
Chr16:89862403..89862404 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) single nucleotide variant Fanconi anemia [RCV000810282]|Fanconi anemia complementation group A [RCV002481659]|not provided [RCV000513985] Chr16:89808331 [GRCh38]
Chr16:89874739 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=) single nucleotide variant Fanconi anemia [RCV000534717] Chr16:89738932 [GRCh38]
Chr16:89805340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) single nucleotide variant Fanconi anemia [RCV000543183] Chr16:89749884 [GRCh38]
Chr16:89816292 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr) single nucleotide variant FANCA-related condition [RCV003983151]|Fanconi anemia [RCV000630825] Chr16:89799221 [GRCh38]
Chr16:89865629 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) single nucleotide variant Fanconi anemia [RCV000630847]|Fanconi anemia complementation group A [RCV001121953]|not provided [RCV003237964] Chr16:89742928 [GRCh38]
Chr16:89809336 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) single nucleotide variant Fanconi anemia [RCV000630862]|Fanconi anemia complementation group A [RCV001292817]|not provided [RCV003478349] Chr16:89770215 [GRCh38]
Chr16:89836623 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) single nucleotide variant Fanconi anemia [RCV000630913]|Fanconi anemia complementation group A [RCV002492948]|not provided [RCV002269293] Chr16:89758619 [GRCh38]
Chr16:89825027 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=) single nucleotide variant FANCA-related condition [RCV003953110]|Fanconi anemia [RCV000630964] Chr16:89740840 [GRCh38]
Chr16:89807248 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) single nucleotide variant Fanconi anemia [RCV000630979] Chr16:89784959 [GRCh38]
Chr16:89851367 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) single nucleotide variant FANCA-related condition [RCV003905685]|Fanconi anemia [RCV000630986]|Fanconi anemia complementation group A [RCV001274521]|not provided [RCV003411493]|not specified [RCV001821782] Chr16:89740822 [GRCh38]
Chr16:89807230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.201A>G (p.Pro67=) single nucleotide variant Fanconi anemia [RCV000631002] Chr16:89814602 [GRCh38]
Chr16:89881010 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.189+7G>A single nucleotide variant FANCA-related condition [RCV003892414]|Fanconi anemia [RCV000631007]|Fanconi anemia complementation group A [RCV001120657] Chr16:89815870 [GRCh38]
Chr16:89882278 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) single nucleotide variant FANCA-related condition [RCV003935751]|Fanconi anemia [RCV000630834]|Fanconi anemia complementation group A [RCV001121952]|not provided [RCV003478348]|not specified [RCV001821772] Chr16:89742832 [GRCh38]
Chr16:89809240 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2149A>G (p.Met717Val) single nucleotide variant Fanconi anemia [RCV000630861] Chr16:89771680 [GRCh38]
Chr16:89838088 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) single nucleotide variant Fanconi anemia [RCV000630880]|Fanconi anemia complementation group A [RCV001271607] Chr16:89773325 [GRCh38]
Chr16:89839733 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2975A>T (p.His992Leu) single nucleotide variant Fanconi anemia [RCV000630885]|Fanconi anemia complementation group A [RCV001280430] Chr16:89758583 [GRCh38]
Chr16:89824991 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) single nucleotide variant Fanconi anemia [RCV000630895]|Fanconi anemia complementation group A [RCV002492947] Chr16:89773351 [GRCh38]
Chr16:89839759 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) microsatellite Fanconi anemia [RCV000630899]|Fanconi anemia complementation group A [RCV000671321] Chr16:89744978..89744980 [GRCh38]
Chr16:89811386..89811388 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val) single nucleotide variant Fanconi anemia [RCV000630933] Chr16:89771719 [GRCh38]
Chr16:89838127 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn) single nucleotide variant Fanconi anemia [RCV000630948] Chr16:89792052 [GRCh38]
Chr16:89858460 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3514-4A>G single nucleotide variant Fanconi anemia [RCV000630983]|Fanconi anemia complementation group A [RCV001293880]|not provided [RCV003478351]|not specified [RCV001821781] Chr16:89745075 [GRCh38]
Chr16:89811483 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) single nucleotide variant FANCA-related condition [RCV003953112]|Fanconi anemia [RCV001085922]|Fanconi anemia complementation group A [RCV002499036]|not provided [RCV000761974] Chr16:89792507 [GRCh38]
Chr16:89858915 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3168C>T (p.Leu1056=) single nucleotide variant Fanconi anemia [RCV001410305] Chr16:89749801 [GRCh38]
Chr16:89816209 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*471G>C single nucleotide variant Fanconi anemia [RCV000559601]|Fanconi anemia complementation group A [RCV001115283]|not provided [RCV003478123] Chr16:89738717 [GRCh38]
Chr16:89805125 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000016.9:g.(?_89831292)_(89833651_?)del deletion Fanconi anemia [RCV000532152] Chr16:89831292..89833651 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3659C>T (p.Pro1220Leu) single nucleotide variant Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [RCV003315288] Chr16:89742906 [GRCh38]
Chr16:89809314 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1872C>A (p.Ala624=) single nucleotide variant Fanconi anemia [RCV000533452]|not provided [RCV003478117] Chr16:89775770 [GRCh38]
Chr16:89842178 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg) single nucleotide variant Fanconi anemia [RCV000556469] Chr16:89814594 [GRCh38]
Chr16:89881002 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1194C>T (p.Val398=) single nucleotide variant Fanconi anemia [RCV000560753] Chr16:89791958 [GRCh38]
Chr16:89858366 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile) single nucleotide variant Fanconi anemia [RCV000538241] Chr16:89744962 [GRCh38]
Chr16:89811370 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.399C>T (p.His133=) single nucleotide variant FANCA-related condition [RCV003960256]|Fanconi anemia [RCV000560795]|Fanconi anemia complementation group A [RCV002497051]|not provided [RCV003478122] Chr16:89810956 [GRCh38]
Chr16:89877364 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3224T>G (p.Leu1075Arg) single nucleotide variant Inborn genetic diseases [RCV003277632] Chr16:89749745 [GRCh38]
Chr16:89816153 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) single nucleotide variant Fanconi anemia [RCV000534540]|Fanconi anemia complementation group A [RCV001120562] Chr16:89792508 [GRCh38]
Chr16:89858916 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.813G>C (p.Gln271His) single nucleotide variant Fanconi anemia [RCV000630833] Chr16:89799618 [GRCh38]
Chr16:89866026 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) single nucleotide variant Fanconi anemia [RCV000630999]|not provided [RCV003420091] Chr16:89746647 [GRCh38]
Chr16:89813055 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1081A>G (p.Arg361Gly) single nucleotide variant Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [RCV003315279] Chr16:89792473 [GRCh38]
Chr16:89858881 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89782853)_(89784970_?)del deletion Fanconi anemia [RCV000535898] Chr16:89782853..89784970 [GRCh38]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.169C>T (p.Leu57=) single nucleotide variant FANCA-related condition [RCV003905686]|Fanconi anemia [RCV000631017]|not provided [RCV003424203] Chr16:89815897 [GRCh38]
Chr16:89882305 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) single nucleotide variant Fanconi anemia [RCV001366802]|Fanconi anemia complementation group A [RCV000625919]|not specified [RCV003235314] Chr16:89745049 [GRCh38]
Chr16:89811457 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) single nucleotide variant Fanconi anemia [RCV001036418]|Fanconi anemia complementation group A [RCV000625425] Chr16:89782912 [GRCh38]
Chr16:89849320 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.709+2T>C single nucleotide variant Fanconi anemia [RCV001868239]|Fanconi anemia complementation group A [RCV000670112]|not provided [RCV000786794] Chr16:89805278 [GRCh38]
Chr16:89871686 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|not provided
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del) microsatellite Fanconi anemia [RCV000815813]|Fanconi anemia complementation group A [RCV000664816]|not specified [RCV001816666] Chr16:89739527..89739529 [GRCh38]
Chr16:89805935..89805937 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) single nucleotide variant Fanconi anemia [RCV000630824]|Fanconi anemia complementation group A [RCV001256513] Chr16:89749781 [GRCh38]
Chr16:89816189 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) single nucleotide variant Fanconi anemia [RCV000630882]|Fanconi anemia complementation group A [RCV001276556] Chr16:89779908 [GRCh38]
Chr16:89846316 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) single nucleotide variant Fanconi anemia [RCV000630951]|Fanconi anemia complementation group A [RCV001293972]|not provided [RCV003478350] Chr16:89810784 [GRCh38]
Chr16:89877192 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1710G>A (p.Glu570=) single nucleotide variant Fanconi anemia [RCV000630992] Chr16:89779874 [GRCh38]
Chr16:89846282 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*879G>C single nucleotide variant Fanconi anemia [RCV000630993] Chr16:89739125 [GRCh38]
Chr16:89805533 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-7G>C single nucleotide variant Fanconi anemia [RCV000630995] Chr16:89742945 [GRCh38]
Chr16:89809353 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-5G>T single nucleotide variant Fanconi anemia [RCV000631011] Chr16:89799643 [GRCh38]
Chr16:89866051 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.537T>G (p.Leu179=) single nucleotide variant Fanconi anemia [RCV000631028] Chr16:89808353 [GRCh38]
Chr16:89874761 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+9G>C single nucleotide variant FANCA-related condition [RCV003892415]|Fanconi anemia [RCV000631037] Chr16:89770555 [GRCh38]
Chr16:89836963 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.10:g.(?_89810701)_(89816621_?)del deletion Fanconi anemia [RCV000631038] Chr16:89810701..89816621 [GRCh38]
Chr16:89877109..89883029 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89761943)_(89920218_?)del deletion Fanconi anemia [RCV000631041] Chr16:89761943..89920218 [GRCh38]
Chr16:89828351..89986626 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) single nucleotide variant Fanconi anemia [RCV001797781]|Fanconi anemia complementation group A [RCV000672136] Chr16:89770179 [GRCh38]
Chr16:89836587 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) duplication Fanconi anemia complementation group A [RCV000672239] Chr16:89771740..89771741 [GRCh38]
Chr16:89838148..89838149 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.79+1G>C single nucleotide variant Fanconi anemia complementation group A [RCV000672909] Chr16:89816536 [GRCh38]
Chr16:89882944 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) deletion Fanconi anemia [RCV001861815]|Fanconi anemia complementation group A [RCV000672916] Chr16:89742838..89742840 [GRCh38]
Chr16:89809246..89809248 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4009A>T (p.Ser1337Cys) single nucleotide variant not provided [RCV000658758] Chr16:89739479 [GRCh38]
Chr16:89805887 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1567-1G>T single nucleotide variant not provided [RCV000658759] Chr16:89782919 [GRCh38]
Chr16:89849327 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) single nucleotide variant Fanconi anemia [RCV001222479]|Fanconi anemia complementation group A [RCV000672199] Chr16:89740015 [GRCh38]
Chr16:89806423 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) single nucleotide variant Fanconi anemia complementation group A [RCV000672220] Chr16:89816614 [GRCh38]
Chr16:89883022 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4167+2C>T single nucleotide variant Fanconi anemia [RCV001855582]|Fanconi anemia complementation group A [RCV000672784] Chr16:89739131 [GRCh38]
Chr16:89805539 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) single nucleotide variant Fanconi anemia complementation group A [RCV000672786] Chr16:89771778 [GRCh38]
Chr16:89838186 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3813dup (p.His1272fs) duplication Fanconi anemia [RCV001855583]|Fanconi anemia complementation group A [RCV000672788] Chr16:89740818..89740819 [GRCh38]
Chr16:89807226..89807227 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg) single nucleotide variant Fanconi anemia [RCV000698916] Chr16:89746669 [GRCh38]
Chr16:89813077 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) single nucleotide variant Fanconi anemia [RCV002532102]|Fanconi anemia complementation group A [RCV000670612]|not provided [RCV003478394] Chr16:89792516 [GRCh38]
Chr16:89858924 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1006+1G>T single nucleotide variant Fanconi anemia [RCV001203018]|Fanconi anemia complementation group A [RCV000672458] Chr16:89795905 [GRCh38]
Chr16:89862313 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) single nucleotide variant Fanconi anemia [RCV002531318]|Fanconi anemia complementation group A [RCV000672567] Chr16:89810772 [GRCh38]
Chr16:89877180 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) duplication Fanconi anemia complementation group A [RCV000671111] Chr16:89775797..89775798 [GRCh38]
Chr16:89842205..89842206 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) single nucleotide variant Fanconi anemia [RCV000803258]|Fanconi anemia complementation group A [RCV000671284]|not provided [RCV003478396] Chr16:89765029 [GRCh38]
Chr16:89831437 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2778+2T>C single nucleotide variant Fanconi anemia [RCV001235351]|Fanconi anemia complementation group A [RCV000671287] Chr16:89764888 [GRCh38]
Chr16:89831296 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.190-1G>T single nucleotide variant Fanconi anemia [RCV001855434]|Fanconi anemia complementation group A [RCV000664959] Chr16:89814614 [GRCh38]
Chr16:89881022 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.597-1G>C single nucleotide variant Fanconi anemia [RCV001242661]|Fanconi anemia complementation group A [RCV000670450] Chr16:89805393 [GRCh38]
Chr16:89871801 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001113525.2(ZNF276):c.*1862C>T single nucleotide variant Fanconi anemia [RCV001460871]|Fanconi anemia complementation group A [RCV000670656] Chr16:89740108 [GRCh38]
Chr16:89806516 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2602-2A>T single nucleotide variant Fanconi anemia [RCV002531281]|Fanconi anemia complementation group A [RCV000671414] Chr16:89765068 [GRCh38]
Chr16:89831476 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn) single nucleotide variant Fanconi anemia [RCV000699859] Chr16:89744962 [GRCh38]
Chr16:89811370 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3934+2T>C single nucleotide variant Fanconi anemia [RCV003767972]|Fanconi anemia complementation group A [RCV000669249] Chr16:89739992 [GRCh38]
Chr16:89806400 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) single nucleotide variant Fanconi anemia [RCV001387726]|Fanconi anemia complementation group A [RCV000669511] Chr16:89816615 [GRCh38]
Chr16:89883023 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3828+1G>A single nucleotide variant Fanconi anemia [RCV001855559]|Fanconi anemia complementation group A [RCV000671445] Chr16:89740803 [GRCh38]
Chr16:89807211 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) single nucleotide variant Fanconi anemia complementation group A [RCV000670589] Chr16:89791489 [GRCh38]
Chr16:89857897 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) single nucleotide variant Fanconi anemia complementation group A [RCV000673853] Chr16:89746857 [GRCh38]
Chr16:89813265 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) single nucleotide variant Fanconi anemia [RCV000812393]|Fanconi anemia complementation group A [RCV000665314]|not provided [RCV001509539] Chr16:89816551 [GRCh38]
Chr16:89882959 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) single nucleotide variant Fanconi anemia [RCV001387348]|Fanconi anemia complementation group A [RCV000666866] Chr16:89816605 [GRCh38]
Chr16:89883013 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) single nucleotide variant Fanconi anemia complementation group A [RCV000667880] Chr16:89740834 [GRCh38]
Chr16:89807242 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3626+1G>T single nucleotide variant Fanconi anemia complementation group A [RCV000668012] Chr16:89744958 [GRCh38]
Chr16:89811366 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) single nucleotide variant Fanconi anemia [RCV000813603]|Fanconi anemia complementation group A [RCV000668057]|not provided [RCV001092317] Chr16:89799203 [GRCh38]
Chr16:89865611 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.190-2A>T single nucleotide variant Fanconi anemia [RCV001868249]|Fanconi anemia complementation group A [RCV000670932]|not provided [RCV001256211] Chr16:89814615 [GRCh38]
Chr16:89881023 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) single nucleotide variant Fanconi anemia complementation group A [RCV000671105] Chr16:89744993 [GRCh38]
Chr16:89811401 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) duplication Fanconi anemia [RCV003523011]|Fanconi anemia complementation group A [RCV000671112]|not provided [RCV000722326] Chr16:89799192..89799193 [GRCh38]
Chr16:89865600..89865601 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.523-2A>G single nucleotide variant Fanconi anemia [RCV001379453]|Fanconi anemia complementation group A [RCV000671161] Chr16:89808369 [GRCh38]
Chr16:89874777 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) microsatellite Fanconi anemia [RCV001217109]|Fanconi anemia complementation group A [RCV000671281] Chr16:89769844..89769846 [GRCh38]
Chr16:89836252..89836254 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) single nucleotide variant Fanconi anemia [RCV002532156]|Fanconi anemia complementation group A [RCV000674049] Chr16:89740044 [GRCh38]
Chr16:89806452 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) single nucleotide variant Fanconi anemia [RCV001229363]|Fanconi anemia complementation group A [RCV000665549] Chr16:89738895 [GRCh38]
Chr16:89805303 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs) duplication Fanconi anemia complementation group A [RCV000667180] Chr16:89740037..89740038 [GRCh38]
Chr16:89806445..89806446 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) single nucleotide variant Fanconi anemia [RCV001246549]|Fanconi anemia complementation group A [RCV000668215] Chr16:89811012 [GRCh38]
Chr16:89877420 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1776+7A>G single nucleotide variant Fanconi anemia [RCV003523012]|Fanconi anemia complementation group A [RCV000671565]|not provided [RCV001756137] Chr16:89778936 [GRCh38]
Chr16:89845344 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) single nucleotide variant Fanconi anemia [RCV000796523]|Fanconi anemia complementation group A [RCV000671893]|not provided [RCV001816676] Chr16:89764930 [GRCh38]
Chr16:89831338 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) single nucleotide variant Fanconi anemia [RCV001047569]|Fanconi anemia complementation group A [RCV000671953]|not provided [RCV001816677] Chr16:89767208 [GRCh38]
Chr16:89833616 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2015-1G>A single nucleotide variant Fanconi anemia complementation group A [RCV000672065] Chr16:89771815 [GRCh38]
Chr16:89838223 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.189+1G>A single nucleotide variant Fanconi anemia [RCV001377209]|Fanconi anemia complementation group A [RCV000674205]|not provided [RCV000996416] Chr16:89815876 [GRCh38]
Chr16:89882284 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) single nucleotide variant Fanconi anemia [RCV001055356]|Fanconi anemia complementation group A [RCV000674289] Chr16:89771803 [GRCh38]
Chr16:89838211 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2981+1G>A single nucleotide variant Fanconi anemia complementation group A [RCV000668546] Chr16:89758576 [GRCh38]
Chr16:89824984 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) deletion Fanconi anemia [RCV001855502]|Fanconi anemia complementation group A [RCV000668571] Chr16:89764899..89764905 [GRCh38]
Chr16:89831307..89831313 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) single nucleotide variant Fanconi anemia [RCV001241327]|Fanconi anemia complementation group A [RCV000667004] Chr16:89746857 [GRCh38]
Chr16:89813265 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.989_995del (p.His330fs) deletion Fanconi anemia complementation group A [RCV000667063] Chr16:89795917..89795923 [GRCh38]
Chr16:89862325..89862331 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1566+2C>T single nucleotide variant Fanconi anemia [RCV002531319]|Fanconi anemia complementation group A [RCV000672636]|not provided [RCV003480756] Chr16:89783005 [GRCh38]
Chr16:89849413 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2853-2A>C single nucleotide variant Fanconi anemia [RCV001240902]|Fanconi anemia complementation group A [RCV000673183]|not provided [RCV001816680] Chr16:89758707 [GRCh38]
Chr16:89825115 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.894-2A>G single nucleotide variant Fanconi anemia [RCV002255501]|Fanconi anemia complementation group A [RCV000673435] Chr16:89796020 [GRCh38]
Chr16:89862428 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1715+1G>T single nucleotide variant Fanconi anemia [RCV003768006]|Fanconi anemia complementation group A [RCV000673486] Chr16:89779868 [GRCh38]
Chr16:89846276 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs) duplication Fanconi anemia complementation group A [RCV000670465] Chr16:89738884..89738885 [GRCh38]
Chr16:89805292..89805293 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) single nucleotide variant FANCA-related condition [RCV003892520]|Fanconi anemia [RCV000809264]|Fanconi anemia complementation group A [RCV000670742]|not provided [RCV003478395] Chr16:89749806 [GRCh38]
Chr16:89816214 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2151+2T>C single nucleotide variant Fanconi anemia [RCV001861792]|Fanconi anemia complementation group A [RCV000670390] Chr16:89771676 [GRCh38]
Chr16:89838084 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1777-1G>C single nucleotide variant Fanconi anemia [RCV001054905]|Fanconi anemia complementation group A [RCV000665345] Chr16:89778851 [GRCh38]
Chr16:89845259 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) single nucleotide variant Fanconi anemia [RCV001387347]|Fanconi anemia complementation group A [RCV000665360] Chr16:89815903 [GRCh38]
Chr16:89882311 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) single nucleotide variant Fanconi anemia complementation group A [RCV000671209] Chr16:89752222 [GRCh38]
Chr16:89818630 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1944del (p.Glu648fs) deletion Fanconi anemia [RCV001383586]|Fanconi anemia complementation group A [RCV000671285] Chr16:89773341 [GRCh38]
Chr16:89839749 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) single nucleotide variant Fanconi anemia [RCV001360974]|Fanconi anemia complementation group A [RCV000673961] Chr16:89738651 [GRCh38]
Chr16:89805059 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.522+1G>T single nucleotide variant Fanconi anemia [RCV003523013]|Fanconi anemia complementation group A [RCV000674016] Chr16:89810706 [GRCh38]
Chr16:89877114 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) deletion Fanconi anemia complementation group A [RCV000674061] Chr16:89742820 [GRCh38]
Chr16:89809228 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2222+1G>C single nucleotide variant Fanconi anemia complementation group A [RCV000670106] Chr16:89770563 [GRCh38]
Chr16:89836971 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.793-3C>G single nucleotide variant Fanconi anemia [RCV001204945]|Fanconi anemia complementation group A [RCV000670676] Chr16:89799641 [GRCh38]
Chr16:89866049 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) duplication Fanconi anemia [RCV001855546]|Fanconi anemia complementation group A [RCV000670729] Chr16:89770613..89770614 [GRCh38]
Chr16:89837021..89837022 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2524del (p.Ser842fs) deletion Fanconi anemia [RCV001058321]|Fanconi anemia complementation group A [RCV000670835] Chr16:89767218 [GRCh38]
Chr16:89833626 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) single nucleotide variant Fanconi anemia [RCV001058370]|Fanconi anemia complementation group A [RCV000673713]|not provided [RCV003478398] Chr16:89799220 [GRCh38]
Chr16:89865628 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) duplication Fanconi anemia [RCV001382479]|Fanconi anemia complementation group A [RCV000673998] Chr16:89746836..89746837 [GRCh38]
Chr16:89813244..89813245 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) deletion Fanconi anemia [RCV002530711]|Fanconi anemia complementation group A [RCV000667430] Chr16:89746878..89746880 [GRCh38]
Chr16:89813286..89813288 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) single nucleotide variant Fanconi anemia [RCV002530713]|Fanconi anemia complementation group A [RCV000667511] Chr16:89779902 [GRCh38]
Chr16:89846310 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2778+83C>G single nucleotide variant Fanconi anemia [RCV002532064]|Fanconi anemia complementation group A [RCV000667523] Chr16:89764807 [GRCh38]
Chr16:89831215 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) single nucleotide variant Fanconi anemia [RCV001868216]|Fanconi anemia complementation group A [RCV000667535] Chr16:89784946 [GRCh38]
Chr16:89851354 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) single nucleotide variant Fanconi anemia complementation group A [RCV000671694] Chr16:89816613 [GRCh38]
Chr16:89883021 [GRCh37]
Chr16:16q24.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.1359+1G>C single nucleotide variant Fanconi anemia [RCV002532125]|Fanconi anemia complementation group A [RCV000672477] Chr16:89791402 [GRCh38]
Chr16:89857810 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) single nucleotide variant Fanconi anemia [RCV001069523]|Fanconi anemia complementation group A [RCV000674201]|not provided [RCV003222094] Chr16:89778948 [GRCh38]
Chr16:89845356 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) deletion Fanconi anemia complementation group A [RCV000674470] Chr16:89738637..89738638 [GRCh38]
Chr16:89805045..89805046 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) deletion Fanconi anemia complementation group A [RCV000674522] Chr16:89744972..89744975 [GRCh38]
Chr16:89811380..89811383 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) microsatellite Fanconi anemia [RCV001071414]|Fanconi anemia complementation group A [RCV000671077] Chr16:89742802..89742803 [GRCh38]
Chr16:89809210..89809211 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) single nucleotide variant Fanconi anemia [RCV001348026]|Fanconi anemia complementation group A [RCV000671214] Chr16:89748691 [GRCh38]
Chr16:89815099 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.283+1G>T single nucleotide variant Fanconi anemia [RCV000806911]|Fanconi anemia complementation group A [RCV000671233] Chr16:89814519 [GRCh38]
Chr16:89880927 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3349-3C>T single nucleotide variant FANCA-related condition [RCV003432720]|Fanconi anemia [RCV001242629]|Fanconi anemia complementation group A [RCV000665511] Chr16:89746893 [GRCh38]
Chr16:89813301 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1360-16_1363dup duplication Fanconi anemia complementation group A [RCV000674089] Chr16:89784960..89784961 [GRCh38]
Chr16:89851368..89851369 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) single nucleotide variant Fanconi anemia [RCV001041382]|Fanconi anemia complementation group A [RCV000665582] Chr16:89783063 [GRCh38]
Chr16:89849471 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) microsatellite Fanconi anemia [RCV000798970]|Fanconi anemia complementation group A [RCV000665703]|See cases [RCV002252201] Chr16:89767206..89767207 [GRCh38]
Chr16:89833614..89833615 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) single nucleotide variant Fanconi anemia [RCV002530721]|Fanconi anemia complementation group A [RCV000667724] Chr16:89758688 [GRCh38]
Chr16:89825096 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) single nucleotide variant Fanconi anemia [RCV000822096]|Fanconi anemia complementation group A [RCV000667754] Chr16:89771722 [GRCh38]
Chr16:89838130 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) duplication Fanconi anemia [RCV001065334]|Fanconi anemia complementation group A [RCV000667760]|not provided [RCV001816670] Chr16:89761970..89761971 [GRCh38]
Chr16:89828378..89828379 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) single nucleotide variant Fanconi anemia [RCV001378203]|Fanconi anemia complementation group A [RCV000672654] Chr16:89791458 [GRCh38]
Chr16:89857866 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) duplication Fanconi anemia complementation group A [RCV000714899] Chr16:89739243..89739244 [GRCh38]
Chr16:89805651..89805652 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) single nucleotide variant Fanconi anemia complementation group A [RCV000674566]|not provided [RCV001683628] Chr16:89791495 [GRCh38]
Chr16:89857903 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) single nucleotide variant Fanconi anemia [RCV000805493]|Fanconi anemia complementation group A [RCV000671453]|not provided [RCV003478397] Chr16:89791459 [GRCh38]
Chr16:89857867 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) duplication Fanconi anemia [RCV001245500]|Fanconi anemia complementation group A [RCV000671503] Chr16:89778826..89778827 [GRCh38]
Chr16:89845234..89845235 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3935-1G>T single nucleotide variant Fanconi anemia [RCV001383939]|Fanconi anemia complementation group A [RCV000671768] Chr16:89739554 [GRCh38]
Chr16:89805962 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) single nucleotide variant Fanconi anemia complementation group A [RCV000668167] Chr16:89749730 [GRCh38]
Chr16:89816138 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4260+2T>A single nucleotide variant Fanconi anemia complementation group A [RCV000673192] Chr16:89738880 [GRCh38]
Chr16:89805288 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.710-1G>C single nucleotide variant Fanconi anemia complementation group A [RCV000673656] Chr16:89803342 [GRCh38]
Chr16:89869750 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) single nucleotide variant Fanconi anemia complementation group A [RCV000672291] Chr16:89749805 [GRCh38]
Chr16:89816213 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) single nucleotide variant Fanconi anemia [RCV001384720]|Fanconi anemia complementation group A [RCV000672395] Chr16:89767213 [GRCh38]
Chr16:89833621 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.523-1G>T single nucleotide variant Fanconi anemia [RCV001379949]|Fanconi anemia complementation group A [RCV000666294]|not provided [RCV003151132] Chr16:89808368 [GRCh38]
Chr16:89874776 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) single nucleotide variant Fanconi anemia [RCV002530683]|Fanconi anemia complementation group A [RCV000666393] Chr16:89803333 [GRCh38]
Chr16:89869741 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3348+1G>A single nucleotide variant FANCA-related condition [RCV003420183]|Fanconi anemia [RCV001246767]|Fanconi anemia complementation group A [RCV000668641]|not provided [RCV001270082] Chr16:89748658 [GRCh38]
Chr16:89815066 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) single nucleotide variant Fanconi anemia [RCV001211107]|Fanconi anemia complementation group A [RCV000668648] Chr16:89815966 [GRCh38]
Chr16:89882374 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) single nucleotide variant Fanconi anemia complementation group A [RCV000674157] Chr16:89740837 [GRCh38]
Chr16:89807245 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.401dup (p.Val135fs) duplication Fanconi anemia [RCV001037066]|Fanconi anemia complementation group A [RCV000674321] Chr16:89810953..89810954 [GRCh38]
Chr16:89877361..89877362 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2910del (p.Gly972fs) deletion Fanconi anemia complementation group A [RCV000674373]|not provided [RCV001009221] Chr16:89758648 [GRCh38]
Chr16:89825056 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) single nucleotide variant Fanconi anemia complementation group A [RCV000674383] Chr16:89739220 [GRCh38]
Chr16:89805628 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.596+2T>C single nucleotide variant Fanconi anemia [RCV001861842]|Fanconi anemia complementation group A [RCV000674412] Chr16:89808292 [GRCh38]
Chr16:89874700 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) single nucleotide variant Fanconi anemia [RCV000817200]|Fanconi anemia complementation group A [RCV000674491]|not provided [RCV003163071] Chr16:89761961 [GRCh38]
Chr16:89828369 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) deletion Fanconi anemia complementation group A [RCV000672696] Chr16:89765037..89765038 [GRCh38]
Chr16:89831445..89831446 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del) microsatellite Fanconi anemia complementation group A [RCV000674949] Chr16:89742857..89742859 [GRCh38]
Chr16:89809265..89809267 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) microsatellite Fanconi anemia [RCV000799363]|Fanconi anemia complementation group A [RCV000674955]|not provided [RCV003311879] Chr16:89792519..89792520 [GRCh38]
Chr16:89858927..89858928 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu) single nucleotide variant Fanconi anemia complementation group A [RCV000674692] Chr16:89740848 [GRCh38]
Chr16:89807256 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) single nucleotide variant Fanconi anemia [RCV000685297]|Fanconi anemia complementation group A [RCV001274526]|not provided [RCV003237986]|not specified [RCV001816695] Chr16:89742921 [GRCh38]
Chr16:89809329 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs) microsatellite Fanconi anemia complementation group A [RCV000674034] Chr16:89783096..89783097 [GRCh38]
Chr16:89849504..89849505 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2667del (p.Ser890fs) deletion Fanconi anemia [RCV001382564]|Fanconi anemia complementation group A [RCV000665563]|not provided [RCV001008375] Chr16:89765001 [GRCh38]
Chr16:89831409 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp) single nucleotide variant Fanconi anemia [RCV000699973] Chr16:89752142 [GRCh38]
Chr16:89818550 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2853-15_2856del deletion Fanconi anemia [RCV001384022]|Fanconi anemia complementation group A [RCV000664679] Chr16:89758702..89758720 [GRCh38]
Chr16:89825110..89825128 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.513dup (p.Lys172fs) duplication Fanconi anemia complementation group A [RCV000673358] Chr16:89810715..89810716 [GRCh38]
Chr16:89877123..89877124 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) single nucleotide variant Fanconi anemia [RCV001246740]|Fanconi anemia complementation group A [RCV000664840] Chr16:89749900 [GRCh38]
Chr16:89816308 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4260+1dup duplication Fanconi anemia [RCV001855596]|Fanconi anemia complementation group A [RCV000673494] Chr16:89738880..89738881 [GRCh38]
Chr16:89805288..89805289 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) single nucleotide variant Fanconi anemia [RCV002531365]|Fanconi anemia complementation group A [RCV000674926] Chr16:89740044 [GRCh38]
Chr16:89806452 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) deletion Fanconi anemia complementation group A [RCV000666441] Chr16:89752211..89752214 [GRCh38]
Chr16:89818619..89818622 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1470+1G>A single nucleotide variant Fanconi anemia complementation group A [RCV000667155] Chr16:89784853 [GRCh38]
Chr16:89851261 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) duplication Fanconi anemia complementation group A [RCV000673747] Chr16:89816579..89816580 [GRCh38]
Chr16:89882987..89882988 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) deletion Fanconi anemia [RCV001210504]|Fanconi anemia complementation group A [RCV000666675] Chr16:89770604..89770611 [GRCh38]
Chr16:89837012..89837019 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) microsatellite Fanconi anemia [RCV001218261]|Fanconi anemia complementation group A [RCV000667783]|not provided [RCV000731876] Chr16:89739175..89739176 [GRCh38]
Chr16:89805583..89805584 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q24.3(chr16:89748800-89961959)x1 copy number loss not provided [RCV000683860] Chr16:89748800..89961959 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89828398-90155062)x3 copy number gain not provided [RCV000683861] Chr16:89828398..90155062 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1407C>T (p.Ala469=) single nucleotide variant Fanconi anemia [RCV002104258] Chr16:89784917 [GRCh38]
Chr16:89851325 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr) single nucleotide variant Fanconi anemia [RCV000702450] Chr16:89779893 [GRCh38]
Chr16:89846301 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1150_1163del (p.Val384fs) deletion Abnormality of blood and blood-forming tissues [RCV001814564] Chr16:89791989..89792002 [GRCh38]
Chr16:89858397..89858410 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp) single nucleotide variant Fanconi anemia [RCV000699280] Chr16:89771739 [GRCh38]
Chr16:89838147 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) single nucleotide variant Fanconi anemia [RCV000685867]|Fanconi anemia complementation group A [RCV002485592]|not provided [RCV003478401] Chr16:89767235 [GRCh38]
Chr16:89833643 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) single nucleotide variant Fanconi anemia [RCV000704068] Chr16:89764999 [GRCh38]
Chr16:89831407 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys) single nucleotide variant Fanconi anemia [RCV000704355]|Fanconi anemia complementation group A [RCV001274148]|not provided [RCV003478440] Chr16:89784861 [GRCh38]
Chr16:89851269 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1558G>C (p.Asp520His) single nucleotide variant Fanconi anemia [RCV000690546]|Fanconi anemia complementation group A [RCV002499227]|not specified [RCV001816707] Chr16:89783015 [GRCh38]
Chr16:89849423 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3408+1G>C single nucleotide variant Fanconi anemia [RCV000695127] Chr16:89746830 [GRCh38]
Chr16:89813238 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.10:g.(?_89814510)_(89816625_?)dup duplication Fanconi anemia [RCV000707809] Chr16:89814510..89816625 [GRCh38]
Chr16:89880918..89883033 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89764884)_(89779963_?)del deletion Fanconi anemia [RCV000707802] Chr16:89764884..89779963 [GRCh38]
Chr16:89831292..89846371 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) single nucleotide variant Fanconi anemia [RCV000703301]|Fanconi anemia complementation group A [RCV000765325]|not provided [RCV003238192] Chr16:89749739 [GRCh38]
Chr16:89816147 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys) single nucleotide variant Fanconi anemia [RCV000685291]|Fanconi anemia complementation group A [RCV002493137] Chr16:89803309 [GRCh38]
Chr16:89869717 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2015-8del deletion Fanconi anemia [RCV000691918] Chr16:89771822 [GRCh38]
Chr16:89838230 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys) single nucleotide variant Fanconi anemia [RCV000689341]|not provided [RCV003480771] Chr16:89771695 [GRCh38]
Chr16:89838103 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly) single nucleotide variant Fanconi anemia [RCV000689475]|not provided [RCV003478407] Chr16:89815921 [GRCh38]
Chr16:89882329 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4010+1_4010+18del deletion FANCA-related condition [RCV003892569]|Fanconi anemia [RCV000706464]|Fanconi anemia complementation group A [RCV001256303]|not provided [RCV003238194] Chr16:89739460..89739477 [GRCh38]
Chr16:89805868..89805885 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) single nucleotide variant Fanconi anemia [RCV000703875]|Fanconi anemia complementation group A [RCV001274520]|Inborn genetic diseases [RCV002534419] Chr16:89740080 [GRCh38]
Chr16:89806488 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser) single nucleotide variant Fanconi anemia [RCV000706493] Chr16:89767148 [GRCh38]
Chr16:89833556 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr) single nucleotide variant Fanconi anemia [RCV000698263] Chr16:89814558 [GRCh38]
Chr16:89880966 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln) single nucleotide variant Fanconi anemia [RCV000704134] Chr16:89738678 [GRCh38]
Chr16:89805086 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala) single nucleotide variant Fanconi anemia [RCV000687718] Chr16:89749820 [GRCh38]
Chr16:89816228 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) single nucleotide variant FANCA-related condition [RCV003392528]|Fanconi anemia [RCV000692969]|Fanconi anemia complementation group A [RCV002477566] Chr16:89738644 [GRCh38]
Chr16:89805052 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys) single nucleotide variant Fanconi anemia [RCV000695178] Chr16:89767214 [GRCh38]
Chr16:89833622 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*630C>G single nucleotide variant Fanconi anemia [RCV000702432]|Fanconi anemia complementation group A [RCV002485731] Chr16:89738876 [GRCh38]
Chr16:89805284 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2800C>A (p.His934Asn) single nucleotide variant Fanconi anemia [RCV000702433] Chr16:89762001 [GRCh38]
Chr16:89828409 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) single nucleotide variant Fanconi anemia [RCV000702739]|Fanconi anemia complementation group A [RCV002485735]|not provided [RCV003223672] Chr16:89749772 [GRCh38]
Chr16:89816180 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr) single nucleotide variant Fanconi anemia [RCV000690749]|Fanconi anemia complementation group A [RCV003144509] Chr16:89791518 [GRCh38]
Chr16:89857926 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val) single nucleotide variant Fanconi anemia [RCV000704965] Chr16:89791473 [GRCh38]
Chr16:89857881 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) single nucleotide variant Fanconi anemia [RCV000693528] Chr16:89816609 [GRCh38]
Chr16:89883017 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) duplication Fanconi anemia [RCV000693701] Chr16:89767153..89767154 [GRCh38]
Chr16:89833561..89833562 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His) single nucleotide variant Fanconi anemia [RCV000696089] Chr16:89762016 [GRCh38]
Chr16:89828424 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) duplication Fanconi anemia [RCV000703200]|Fanconi anemia complementation group A [RCV001274528] Chr16:89742930..89742931 [GRCh38]
Chr16:89809338..89809339 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.9:g.(?_89811367)_(89851372_?)dup duplication Fanconi anemia [RCV000708178] Chr16:89744959..89784964 [GRCh38]
Chr16:89811367..89851372 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.10:g.(?_89758571)_(89784970_?)del deletion Fanconi anemia [RCV000708215] Chr16:89758571..89784970 [GRCh38]
Chr16:89824979..89851378 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser) single nucleotide variant Fanconi anemia [RCV000696548] Chr16:89749854 [GRCh38]
Chr16:89816262 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) single nucleotide variant Fanconi anemia [RCV000705864]|Fanconi anemia complementation group A [RCV001274569]|not provided [RCV003478446] Chr16:89758654 [GRCh38]
Chr16:89825062 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.10:g.(?_89814514)_(89816621_?)del deletion Fanconi anemia [RCV000708269] Chr16:89814514..89816621 [GRCh38]
Chr16:89880922..89883029 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89782849)_(89796028_?)del deletion Fanconi anemia [RCV000813982] Chr16:89782849..89796028 [GRCh38]
Chr16:89849257..89862436 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000135.4(FANCA):c.1007-104G>A single nucleotide variant not provided [RCV001572336] Chr16:89792651 [GRCh38]
Chr16:89859059 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000135.4(FANCA):c.3067-259G>T single nucleotide variant not provided [RCV001541314] Chr16:89750161 [GRCh38]
Chr16:89816569 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:89273883-89900237)x3 copy number gain not provided [RCV000739305] Chr16:89273883..89900237 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:89821155-89854723)x3 copy number gain not provided [RCV000739313] Chr16:89821155..89854723 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.709+58G>A single nucleotide variant not provided [RCV001530846] Chr16:89805222 [GRCh38]
Chr16:89871630 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-215C>A single nucleotide variant not provided [RCV001665806] Chr16:89816201 [GRCh38]
Chr16:89882609 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1470+83G>A single nucleotide variant not provided [RCV001679853] Chr16:89784771 [GRCh38]
Chr16:89851179 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=) single nucleotide variant Fanconi anemia [RCV000861704]|not provided [RCV003478528] Chr16:89738685 [GRCh38]
Chr16:89805093 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+339A>G single nucleotide variant not provided [RCV001612329] Chr16:89749391 [GRCh38]
Chr16:89815799 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1006+182C>G single nucleotide variant not provided [RCV001708015] Chr16:89795724 [GRCh38]
Chr16:89862132 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3858C>T (p.His1286=) single nucleotide variant FANCA-related condition [RCV003938292]|Fanconi anemia [RCV000869716]|Fanconi anemia complementation group A [RCV001274553] Chr16:89740070 [GRCh38]
Chr16:89806478 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2504+8C>A single nucleotide variant Fanconi anemia [RCV000871842] Chr16:89769829 [GRCh38]
Chr16:89836237 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*732G>T single nucleotide variant Fanconi anemia [RCV001444899] Chr16:89738978 [GRCh38]
Chr16:89805386 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.894-10G>A single nucleotide variant Fanconi anemia [RCV000874757]|Fanconi anemia complementation group A [RCV002507530] Chr16:89796028 [GRCh38]
Chr16:89862436 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.675C>T (p.Cys225=) single nucleotide variant FANCA-related condition [RCV003895354]|Fanconi anemia [RCV001409892] Chr16:89805314 [GRCh38]
Chr16:89871722 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1715+196C>T single nucleotide variant not provided [RCV001691841] Chr16:89779673 [GRCh38]
Chr16:89846081 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2015-4G>T single nucleotide variant Fanconi anemia [RCV000862721]|Fanconi anemia complementation group A [RCV001118625] Chr16:89771818 [GRCh38]
Chr16:89838226 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1068C>G (p.Thr356=) single nucleotide variant FANCA-related condition [RCV003933052]|Fanconi anemia [RCV000916345] Chr16:89792486 [GRCh38]
Chr16:89858894 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter) single nucleotide variant Fanconi anemia [RCV001615348] Chr16:89791418 [GRCh38]
Chr16:89857826 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg) single nucleotide variant Fanconi anemia [RCV001615349] Chr16:89748725 [GRCh38]
Chr16:89815133 [GRCh37]
Chr16:16q24.3		 pathogenic|conflicting interpretations of pathogenicity
NM_000135.4:c.1901_3240del deletion Fanconi anemia [RCV001615361]   likely pathogenic
NM_000135.4(FANCA):c.2509_2604del (p.Cys837_Phe868del) deletion Fanconi anemia [RCV001615368] Chr16:89767141..89767236 [GRCh38]
Chr16:89833549..89833644 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1084-54C>G single nucleotide variant not provided [RCV001535275] Chr16:89792122 [GRCh38]
Chr16:89858530 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2295C>G (p.Leu765=) single nucleotide variant Fanconi anemia [RCV001442092] Chr16:89770187 [GRCh38]
Chr16:89836595 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+138C>A single nucleotide variant not provided [RCV001612002] Chr16:89816399 [GRCh38]
Chr16:89882807 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1169T>G (p.Leu390Arg) single nucleotide variant Fanconi anemia [RCV001582454] Chr16:89791983 [GRCh38]
Chr16:89858391 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1006+10G>A single nucleotide variant Fanconi anemia [RCV000875574] Chr16:89795896 [GRCh38]
Chr16:89862304 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1686G>A (p.Gly562=) single nucleotide variant Fanconi anemia [RCV001460408] Chr16:89779898 [GRCh38]
Chr16:89846306 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+741C>T single nucleotide variant not provided [RCV001574449] Chr16:89798425 [GRCh38]
Chr16:89864833 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-155G>A single nucleotide variant not provided [RCV001567096] Chr16:89779158 [GRCh38]
Chr16:89845566 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-80C>T single nucleotide variant not provided [RCV001681836] Chr16:89792627 [GRCh38]
Chr16:89859035 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) single nucleotide variant Fanconi anemia [RCV002533863]|Fanconi anemia complementation group A [RCV000761270] Chr16:89791420 [GRCh38]
Chr16:89857828 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) microsatellite Fanconi anemia complementation group A [RCV000761271] Chr16:89770617..89770619 [GRCh38]
Chr16:89837025..89837027 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3349-1G>A single nucleotide variant Fanconi anemia [RCV001043409]|Fanconi anemia complementation group A [RCV000761273] Chr16:89746891 [GRCh38]
Chr16:89813299 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) single nucleotide variant Fanconi anemia complementation group A [RCV000761289] Chr16:89773306 [GRCh38]
Chr16:89839714 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs) microsatellite Fanconi anemia complementation group A [RCV000761290] Chr16:89767206..89767209 [GRCh38]
Chr16:89833614..89833617 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.2(FANCA):c.1_2151+1del deletion Fanconi anemia complementation group A [RCV000761237] Chr16:89771677..89816615 [GRCh38]
Chr16:89838085..89883023 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.2:c.523_2601del deletion Fanconi anemia complementation group A [RCV000761238]   likely pathogenic
NM_000135.2:c.894_2641del deletion Fanconi anemia complementation group A [RCV000761239]   likely pathogenic
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) single nucleotide variant Fanconi anemia complementation group A [RCV000761272] Chr16:89749899 [GRCh38]
Chr16:89816307 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr) single nucleotide variant Fanconi anemia [RCV001069469]|not provided [RCV000761970] Chr16:89739488 [GRCh38]
Chr16:89805896 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) single nucleotide variant Fanconi anemia [RCV001386218]|not provided [RCV000761971] Chr16:89744972 [GRCh38]
Chr16:89811380 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2477C>G (p.Thr826Arg) single nucleotide variant not provided [RCV000761972] Chr16:89769864 [GRCh38]
Chr16:89836272 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.744dup (p.Lys249fs) duplication not provided [RCV000761975] Chr16:89803306..89803307 [GRCh38]
Chr16:89869714..89869715 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.2317-2A>G single nucleotide variant Fanconi anemia complementation group A [RCV000760152] Chr16:89770026 [GRCh38]
Chr16:89836434 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.913C>T (p.His305Tyr) single nucleotide variant Fanconi anemia [RCV001046595] Chr16:89795999 [GRCh38]
Chr16:89862407 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.10:g.(?_89738591)_(89811081_?)del deletion Fanconi anemia [RCV001032044] Chr16:89804999..89877489 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) single nucleotide variant Fanconi anemia [RCV001066000]|Fanconi anemia complementation group A [RCV001256277]|not provided [RCV002274132] Chr16:89761994 [GRCh38]
Chr16:89828402 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.610C>G (p.His204Asp) single nucleotide variant Fanconi anemia complementation group A [RCV001117079] Chr16:89805379 [GRCh38]
Chr16:89871787 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2778+1G>A single nucleotide variant Fanconi anemia [RCV000811488]|Fanconi anemia complementation group A [RCV000786986]|not provided [RCV002269312] Chr16:89764889 [GRCh38]
Chr16:89831297 [GRCh37]
Chr16:16q24.3		 pathogenic|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.793-249C>A single nucleotide variant not provided [RCV001682253] Chr16:89799887 [GRCh38]
Chr16:89866295 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1084-146G>A single nucleotide variant not provided [RCV001551661] Chr16:89792214 [GRCh38]
Chr16:89858622 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.18C>G (p.Val6=) single nucleotide variant Fanconi anemia complementation group A [RCV001115737] Chr16:89816598 [GRCh38]
Chr16:89883006 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.319del (p.Val107fs) deletion Fanconi anemia [RCV001066977] Chr16:89811036 [GRCh38]
Chr16:89877444 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser) single nucleotide variant Fanconi anemia [RCV001067137]|Fanconi anemia complementation group A [RCV001118524] Chr16:89746880 [GRCh38]
Chr16:89813288 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.79+119G>A single nucleotide variant not provided [RCV001609017] Chr16:89816418 [GRCh38]
Chr16:89882826 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.10:g.(?_89764807)_(89779967_?)del deletion Fanconi anemia [RCV001031595] Chr16:89831215..89846375 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3239+314C>T single nucleotide variant not provided [RCV001609281] Chr16:89749416 [GRCh38]
Chr16:89815824 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) single nucleotide variant Fanconi anemia [RCV001067317]|Fanconi anemia complementation group A [RCV001256594] Chr16:89765027 [GRCh38]
Chr16:89831435 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer) duplication Fanconi anemia complementation group A [RCV003448717] Chr16:89740837..89740838 [GRCh38]
Chr16:89807245..89807246 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89758567)_(89762032_?)dup duplication Fanconi anemia [RCV001031665] Chr16:89824975..89828440 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.10:g.(?_89761939)_(89765076_?)del deletion Fanconi anemia [RCV001031720] Chr16:89828347..89831484 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89748641)_(89758720_?)del deletion Fanconi anemia [RCV001031730] Chr16:89815049..89825128 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3142_3147del (p.Leu1048_Phe1049del) deletion Fanconi anemia [RCV001615370] Chr16:89749822..89749827 [GRCh38]
Chr16:89816230..89816235 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.893+242G>A single nucleotide variant not provided [RCV001575875] Chr16:89798924 [GRCh38]
Chr16:89865332 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu) single nucleotide variant Fanconi anemia [RCV001526824]|Fanconi anemia complementation group A [RCV001115379]|Inborn genetic diseases [RCV002556267] Chr16:89745010 [GRCh38]
Chr16:89811418 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2602-1G>T single nucleotide variant Fanconi anemia [RCV003523097]|not provided [RCV001568536] Chr16:89765067 [GRCh38]
Chr16:89831475 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2779-54G>A single nucleotide variant not provided [RCV001679363] Chr16:89762076 [GRCh38]
Chr16:89828484 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3513+230G>T single nucleotide variant not provided [RCV001692874] Chr16:89746354 [GRCh38]
Chr16:89812762 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4:c.1019_*580del deletion Fanconi anemia [RCV001615354]   pathogenic
NM_000135.4:c.1471_2853del deletion Fanconi anemia [RCV001615358]   pathogenic
NM_000135.4(FANCA):c.1360-203= single nucleotide variant not provided [RCV001709230] Chr16:89785167 [GRCh38]
Chr16:89851575 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.597-327C>A single nucleotide variant not provided [RCV001583396] Chr16:89805719 [GRCh38]
Chr16:89872127 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.10:g.(?_89758567)_(89784974_?)del deletion Fanconi anemia [RCV001032094] Chr16:89824975..89851382 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.837C>T (p.Asp279=) single nucleotide variant Fanconi anemia [RCV000866096]|Fanconi anemia complementation group A [RCV001115653]|not provided [RCV003424395] Chr16:89799222 [GRCh38]
Chr16:89865630 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) single nucleotide variant Fanconi anemia [RCV001437112]|Fanconi anemia complementation group A [RCV002501237] Chr16:89746858 [GRCh38]
Chr16:89813266 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-30_2505-10del deletion Fanconi anemia [RCV001406507] Chr16:89767247..89767267 [GRCh38]
Chr16:89833655..89833675 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=) single nucleotide variant Fanconi anemia [RCV000867455] Chr16:89739265 [GRCh38]
Chr16:89805673 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-10C>T single nucleotide variant Fanconi anemia [RCV000869142]|Fanconi anemia complementation group A [RCV002501290]|not provided [RCV003478542] Chr16:89773394 [GRCh38]
Chr16:89839802 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.309A>G (p.Ser103=) single nucleotide variant not provided [RCV000949393] Chr16:89811046 [GRCh38]
Chr16:89877454 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2445T>C (p.Pro815=) single nucleotide variant Fanconi anemia [RCV001412991] Chr16:89769896 [GRCh38]
Chr16:89836304 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-10T>C single nucleotide variant Fanconi anemia [RCV001405631] Chr16:89808377 [GRCh38]
Chr16:89874785 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) single nucleotide variant Fanconi anemia [RCV000867515]|Fanconi anemia complementation group A [RCV001276559]|not provided [RCV003478537] Chr16:89792546 [GRCh38]
Chr16:89858954 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) single nucleotide variant Fanconi anemia [RCV000869204]|Fanconi anemia complementation group A [RCV001276555] Chr16:89778821 [GRCh38]
Chr16:89845229 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=) single nucleotide variant Fanconi anemia [RCV000868873]|not provided [RCV003478540]|not specified [RCV001816985] Chr16:89742899 [GRCh38]
Chr16:89809307 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.12G>T (p.Ser4=) single nucleotide variant Fanconi anemia [RCV000867583] Chr16:89816604 [GRCh38]
Chr16:89883012 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3366C>T (p.His1122=) single nucleotide variant Fanconi anemia [RCV000877603]|Fanconi anemia complementation group A [RCV000989670] Chr16:89746873 [GRCh38]
Chr16:89813281 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.378G>A (p.Thr126=) single nucleotide variant Fanconi anemia [RCV000950520] Chr16:89810977 [GRCh38]
Chr16:89877385 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1536A>C (p.Ser512=) single nucleotide variant Fanconi anemia [RCV000869832]|not provided [RCV003884769] Chr16:89783037 [GRCh38]
Chr16:89849445 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3768A>T (p.Leu1256=) single nucleotide variant Fanconi anemia [RCV001503647] Chr16:89740864 [GRCh38]
Chr16:89807272 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1068C>T (p.Thr356=) single nucleotide variant Fanconi anemia [RCV000904454] Chr16:89792486 [GRCh38]
Chr16:89858894 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1072C>T (p.Leu358=) single nucleotide variant Fanconi anemia [RCV000883869] Chr16:89792482 [GRCh38]
Chr16:89858890 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) single nucleotide variant Fanconi anemia [RCV000870367]|Fanconi anemia complementation group A [RCV001276554] Chr16:89778812 [GRCh38]
Chr16:89845220 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2985A>T (p.Ser995=) single nucleotide variant Fanconi anemia [RCV001480098] Chr16:89752219 [GRCh38]
Chr16:89818627 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.12G>C (p.Ser4=) single nucleotide variant Fanconi anemia [RCV001400959]|Fanconi anemia complementation group A [RCV001271635] Chr16:89816604 [GRCh38]
Chr16:89883012 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1500_1501delinsTA (p.Gly501Ser) indel Fanconi anemia [RCV000936986] Chr16:89783072..89783073 [GRCh38]
Chr16:89849480..89849481 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3693C>T (p.His1231=) single nucleotide variant FANCA-related condition [RCV003892807]|Fanconi anemia [RCV000864999]|not provided [RCV002264029] Chr16:89742872 [GRCh38]
Chr16:89809280 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.690C>T (p.Val230=) single nucleotide variant Fanconi anemia [RCV001462096] Chr16:89805299 [GRCh38]
Chr16:89871707 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1221T>C (p.Leu407=) single nucleotide variant Fanconi anemia [RCV001444045] Chr16:89791931 [GRCh38]
Chr16:89858339 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.634A>C (p.Arg212=) single nucleotide variant FANCA-related condition [RCV003918394]|Fanconi anemia [RCV000867876]|Fanconi anemia complementation group A [RCV001276565] Chr16:89805355 [GRCh38]
Chr16:89871763 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.69C>G (p.Ala23=) single nucleotide variant Fanconi anemia [RCV001465343] Chr16:89816547 [GRCh38]
Chr16:89882955 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2886C>T (p.His962=) single nucleotide variant Fanconi anemia [RCV001413538] Chr16:89758672 [GRCh38]
Chr16:89825080 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) single nucleotide variant FANCA-related condition [RCV003965690]|Fanconi anemia [RCV000865215]|Fanconi anemia complementation group A [RCV001274556] Chr16:89742842 [GRCh38]
Chr16:89809250 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.228A>G (p.Lys76=) single nucleotide variant Fanconi anemia [RCV001439832] Chr16:89814575 [GRCh38]
Chr16:89880983 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-4C>A single nucleotide variant Fanconi anemia [RCV000971456] Chr16:89779961 [GRCh38]
Chr16:89846369 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-9G>A single nucleotide variant Fanconi anemia [RCV000982993] Chr16:89811080 [GRCh38]
Chr16:89877488 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427-9T>C single nucleotide variant Fanconi anemia [RCV001500190] Chr16:89810811 [GRCh38]
Chr16:89877219 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3408+9C>G single nucleotide variant FANCA-related condition [RCV003955632]|Fanconi anemia [RCV000865684]|Fanconi anemia complementation group A [RCV001274560]|not provided [RCV003478532]|not specified [RCV001816973] Chr16:89746822 [GRCh38]
Chr16:89813230 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1360-13TC[2] microsatellite Fanconi anemia [RCV001396568] Chr16:89784972..89784973 [GRCh38]
Chr16:89851380..89851381 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.90C>G (p.Val30=) single nucleotide variant Fanconi anemia [RCV000868017]|not specified [RCV001816981] Chr16:89815976 [GRCh38]
Chr16:89882384 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.826+10T>C single nucleotide variant FANCA-related condition [RCV003938272]|Fanconi anemia [RCV000866026] Chr16:89799595 [GRCh38]
Chr16:89866003 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.603C>T (p.Pro201=) single nucleotide variant Fanconi anemia [RCV000923667] Chr16:89805386 [GRCh38]
Chr16:89871794 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.826+8A>G single nucleotide variant Fanconi anemia [RCV001455614] Chr16:89799597 [GRCh38]
Chr16:89866005 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4264C>T (p.Leu1422=) single nucleotide variant Fanconi anemia [RCV001397448] Chr16:89738705 [GRCh38]
Chr16:89805113 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.582A>G (p.Gln194=) single nucleotide variant Fanconi anemia [RCV000878077]|Fanconi anemia complementation group A [RCV001276566] Chr16:89808308 [GRCh38]
Chr16:89874716 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.523-19GTTTT[2] microsatellite Fanconi anemia [RCV000868284]|not provided [RCV003238250] Chr16:89808372..89808376 [GRCh38]
Chr16:89874780..89874784 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) single nucleotide variant Fanconi anemia [RCV001404968]|Fanconi anemia complementation group A [RCV001276557] Chr16:89784953 [GRCh38]
Chr16:89851361 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.105T>C (p.Tyr35=) single nucleotide variant FANCA-related condition [RCV003948253]|Fanconi anemia [RCV001463025]|not provided [RCV003478565] Chr16:89815961 [GRCh38]
Chr16:89882369 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+8C>T single nucleotide variant Fanconi anemia [RCV001487041] Chr16:89767133 [GRCh38]
Chr16:89833541 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+10C>T single nucleotide variant Fanconi anemia [RCV001450123] Chr16:89770554 [GRCh38]
Chr16:89836962 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.10:g.(?_89761939)_(89816616_?)del deletion Fanconi anemia [RCV001033121] Chr16:89828347..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys) single nucleotide variant Fanconi anemia [RCV001052881]|not provided [RCV003478679] Chr16:89792476 [GRCh38]
Chr16:89858884 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2129G>T (p.Arg710Ile) single nucleotide variant Fanconi anemia [RCV001055015] Chr16:89771700 [GRCh38]
Chr16:89838108 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89778791)_(89816625_?)del deletion Fanconi anemia [RCV001033148] Chr16:89845199..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) single nucleotide variant Fanconi anemia [RCV001035133]|Fanconi anemia complementation group A [RCV002481848] Chr16:89795968 [GRCh38]
Chr16:89862376 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.5C>T (p.Ser2Phe) single nucleotide variant Fanconi anemia [RCV001035136] Chr16:89816611 [GRCh38]
Chr16:89883019 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg) single nucleotide variant Fanconi anemia [RCV001038750]|Fanconi anemia complementation group A [RCV002479248] Chr16:89749763 [GRCh38]
Chr16:89816171 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_000135.4(FANCA):c.68C>G (p.Ala23Gly) single nucleotide variant Fanconi anemia [RCV001062373]|Inborn genetic diseases [RCV002555811] Chr16:89816548 [GRCh38]
Chr16:89882956 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1870G>T (p.Ala624Ser) single nucleotide variant Fanconi anemia [RCV001047623] Chr16:89775772 [GRCh38]
Chr16:89842180 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3240-1G>A single nucleotide variant Fanconi anemia [RCV001051366] Chr16:89748768 [GRCh38]
Chr16:89815176 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001113525.2(ZNF276):c.*883C>T single nucleotide variant Fanconi anemia [RCV001037102]|Fanconi anemia complementation group A [RCV001274512] Chr16:89739129 [GRCh38]
Chr16:89805537 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys) single nucleotide variant Fanconi anemia [RCV001061592]|Fanconi anemia complementation group A [RCV002489672] Chr16:89810724 [GRCh38]
Chr16:89877132 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3626+4C>T single nucleotide variant FANCA-related condition [RCV003898015]|Fanconi anemia [RCV001055620]|Fanconi anemia complementation group A [RCV002497304]|not provided [RCV000996415] Chr16:89744955 [GRCh38]
Chr16:89811363 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.10:g.(?_89814510)_(89816625_?)del deletion Fanconi anemia [RCV001033355] Chr16:89880918..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile) single nucleotide variant Fanconi anemia [RCV001047771]|Fanconi anemia complementation group A [RCV001274142] Chr16:89779882 [GRCh38]
Chr16:89846290 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1454C>T (p.Ser485Phe) single nucleotide variant Fanconi anemia [RCV001056358] Chr16:89784870 [GRCh38]
Chr16:89851278 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1738G>A (p.Val580Met) single nucleotide variant Fanconi anemia [RCV001058709]|Fanconi anemia complementation group A [RCV001115560] Chr16:89778981 [GRCh38]
Chr16:89845389 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1388A>G (p.His463Arg) single nucleotide variant Fanconi anemia [RCV001047847] Chr16:89784936 [GRCh38]
Chr16:89851344 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.79+1G>A single nucleotide variant Fanconi anemia [RCV001053503] Chr16:89816536 [GRCh38]
Chr16:89882944 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.614C>G (p.Ala205Gly) single nucleotide variant Fanconi anemia [RCV001058884] Chr16:89805375 [GRCh38]
Chr16:89871783 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89803249)_(89811081_?)del deletion Fanconi anemia [RCV001033567] Chr16:89869657..89877489 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4261-2A>G single nucleotide variant Fanconi anemia [RCV001071454]|Fanconi anemia complementation group A [RCV001256425] Chr16:89738710 [GRCh38]
Chr16:89805118 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala) single nucleotide variant Fanconi anemia [RCV001059113]|Fanconi anemia complementation group A [RCV001274648]|not specified [RCV001800947] Chr16:89803276 [GRCh38]
Chr16:89869684 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2435T>G (p.Leu812Arg) single nucleotide variant Fanconi anemia [RCV001059292] Chr16:89769906 [GRCh38]
Chr16:89836314 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3583C>G (p.Arg1195Gly) single nucleotide variant Fanconi anemia [RCV001035808] Chr16:89745002 [GRCh38]
Chr16:89811410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) single nucleotide variant Fanconi anemia [RCV001037983]|Fanconi anemia complementation group A [RCV001333237] Chr16:89739179 [GRCh38]
Chr16:89805587 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89814510)_(89816616_?)dup duplication Fanconi anemia [RCV001032485] Chr16:89880918..89883024 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.710-5T>C single nucleotide variant Fanconi anemia [RCV001052274]|Fanconi anemia complementation group A [RCV001256223] Chr16:89803346 [GRCh38]
Chr16:89869754 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1145A>G (p.Gln382Arg) single nucleotide variant Fanconi anemia [RCV001046818] Chr16:89792007 [GRCh38]
Chr16:89858415 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89767131)_(89799648_?)del deletion Fanconi anemia [RCV001032506] Chr16:89833539..89866056 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3047A>G (p.Asp1016Gly) single nucleotide variant Fanconi anemia [RCV001042940] Chr16:89752157 [GRCh38]
Chr16:89818565 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2402T>A (p.Val801Glu) single nucleotide variant Fanconi anemia [RCV001038099] Chr16:89769939 [GRCh38]
Chr16:89836347 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter) single nucleotide variant Fanconi anemia [RCV001038114]|Fanconi anemia complementation group A [RCV001256503]|Hereditary cancer-predisposing syndrome [RCV001293873] Chr16:89765030 [GRCh38]
Chr16:89831438 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.2364C>A (p.Ala788=) single nucleotide variant Fanconi anemia [RCV001059947] Chr16:89769977 [GRCh38]
Chr16:89836385 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1826+2T>A single nucleotide variant Fanconi anemia [RCV001068973] Chr16:89778799 [GRCh38]
Chr16:89845207 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2341G>T (p.Val781Leu) single nucleotide variant Fanconi anemia [RCV001039739] Chr16:89770000 [GRCh38]
Chr16:89836408 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3935-1G>A single nucleotide variant Fanconi anemia [RCV001036272] Chr16:89739554 [GRCh38]
Chr16:89805962 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1906G>C (p.Ala636Pro) single nucleotide variant Fanconi anemia [RCV001060539] Chr16:89773379 [GRCh38]
Chr16:89839787 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.79+4G>C single nucleotide variant Fanconi anemia [RCV001050661] Chr16:89816533 [GRCh38]
Chr16:89882941 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter) single nucleotide variant Fanconi anemia [RCV001057513] Chr16:89814596 [GRCh38]
Chr16:89881004 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val) single nucleotide variant Fanconi anemia [RCV001036619] Chr16:89739260 [GRCh38]
Chr16:89805668 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) single nucleotide variant Fanconi anemia [RCV001050935]|Fanconi anemia complementation group A [RCV001274659]|not provided [RCV001772256] Chr16:89810742 [GRCh38]
Chr16:89877150 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.284-1328_705del deletion Fanconi anemia [RCV001054571]|Fanconi anemia complementation group A [RCV001256327] Chr16:89805284..89812399 [GRCh38]
Chr16:89871692..89878807 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1472_1566+1del deletion Fanconi anemia [RCV000779593] Chr16:89783006..89783101 [GRCh38]
Chr16:89849414..89849509 [GRCh37]
Chr16:16q24.3		 pathogenic
NG_011706.1:g.10587_63081del deletion Fanconi anemia [RCV000779596] Chr16:89758580..89811074 [GRCh38]
Chr16:89824985..89877479 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3627-8T>G single nucleotide variant Fanconi anemia [RCV000864064]|Fanconi anemia complementation group A [RCV001274557]|not provided [RCV003478530] Chr16:89742946 [GRCh38]
Chr16:89809354 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1226-6A>C single nucleotide variant Fanconi anemia [RCV001493561] Chr16:89791542 [GRCh38]
Chr16:89857950 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4365C>T (p.Phe1455=) single nucleotide variant Fanconi anemia [RCV000863957] Chr16:89738604 [GRCh38]
Chr16:89805012 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.522+9G>C single nucleotide variant FANCA-related condition [RCV003930394]|Fanconi anemia [RCV000872155]|not specified [RCV001817018] Chr16:89810698 [GRCh38]
Chr16:89877106 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=) single nucleotide variant Fanconi anemia [RCV000864252]|Fanconi anemia complementation group A [RCV001280426] Chr16:89738909 [GRCh38]
Chr16:89805317 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.462T>C (p.Tyr154=) single nucleotide variant Fanconi anemia [RCV001447494] Chr16:89810767 [GRCh38]
Chr16:89877175 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1969C>T (p.Leu657=) single nucleotide variant Fanconi anemia [RCV001423771] Chr16:89773316 [GRCh38]
Chr16:89839724 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-8C>G single nucleotide variant Fanconi anemia [RCV001505763]|Fanconi anemia complementation group A [RCV001276570] Chr16:89815994 [GRCh38]
Chr16:89882402 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1491C>T (p.Pro497=) single nucleotide variant Fanconi anemia [RCV001458178] Chr16:89783082 [GRCh38]
Chr16:89849490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) single nucleotide variant FANCA-related condition [RCV003975390]|Fanconi anemia [RCV000862980]|Fanconi anemia complementation group A [RCV001276505]|not specified [RCV001816951] Chr16:89749771 [GRCh38]
Chr16:89816179 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) single nucleotide variant Fanconi anemia [RCV000864322]|Fanconi anemia complementation group A [RCV001280427] Chr16:89748761 [GRCh38]
Chr16:89815169 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.888G>A (p.Arg296=) single nucleotide variant Fanconi anemia [RCV000875447]|Fanconi anemia complementation group A [RCV002495314] Chr16:89799171 [GRCh38]
Chr16:89865579 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-10A>G single nucleotide variant Fanconi anemia [RCV002062259] Chr16:89799648 [GRCh38]
Chr16:89866056 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2670C>T (p.Ser890=) single nucleotide variant Fanconi anemia [RCV001430622] Chr16:89764998 [GRCh38]
Chr16:89831406 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1223T>C single nucleotide variant FANCA-related condition [RCV003895345]|Fanconi anemia [RCV001421977] Chr16:89739469 [GRCh38]
Chr16:89805877 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2487C>T (p.Ser829=) single nucleotide variant FANCA-related condition [RCV003895346]|Fanconi anemia [RCV001467067] Chr16:89769854 [GRCh38]
Chr16:89836262 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1509C>T (p.Tyr503=) single nucleotide variant Fanconi anemia [RCV001450168] Chr16:89783064 [GRCh38]
Chr16:89849472 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2316+9C>G single nucleotide variant Fanconi anemia [RCV000871636]|not provided [RCV003478551] Chr16:89770157 [GRCh38]
Chr16:89836565 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2376T>C (p.Gly792=) single nucleotide variant FANCA-related condition [RCV003983223]|Fanconi anemia [RCV000865052]|not specified [RCV001816966] Chr16:89769965 [GRCh38]
Chr16:89836373 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2529C>T (p.Tyr843=) single nucleotide variant Fanconi anemia [RCV001394557] Chr16:89767213 [GRCh38]
Chr16:89833621 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2115C>T (p.Ser705=) single nucleotide variant Fanconi anemia [RCV001493555] Chr16:89771714 [GRCh38]
Chr16:89838122 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4335C>T (p.Asp1445=) single nucleotide variant Fanconi anemia [RCV000862350]|not provided [RCV003413674] Chr16:89738634 [GRCh38]
Chr16:89805042 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1737GT[1] microsatellite Fanconi anemia [RCV000865018]|not provided [RCV003478531] Chr16:89739983..89739984 [GRCh38]
Chr16:89806391..89806392 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1860C>A (p.Thr620=) single nucleotide variant Fanconi anemia [RCV000887555]|not specified [RCV001818641] Chr16:89775782 [GRCh38]
Chr16:89842190 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3626+7G>A single nucleotide variant Fanconi anemia [RCV000868485]|Fanconi anemia complementation group A [RCV001121954] Chr16:89744952 [GRCh38]
Chr16:89811360 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) single nucleotide variant Fanconi anemia [RCV000873449]|Fanconi anemia complementation group A [RCV001118526] Chr16:89748740 [GRCh38]
Chr16:89815148 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1776+10C>T single nucleotide variant Fanconi anemia [RCV000873456]|Fanconi anemia complementation group A [RCV001271613] Chr16:89778933 [GRCh38]
Chr16:89845341 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.237C>T (p.Asp79=) single nucleotide variant FANCA-related condition [RCV003928344]|Fanconi anemia [RCV000862441]|not specified [RCV001816946] Chr16:89814566 [GRCh38]
Chr16:89880974 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3513+9G>C single nucleotide variant Fanconi anemia [RCV001396720] Chr16:89746575 [GRCh38]
Chr16:89812983 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1971G>T (p.Leu657=) single nucleotide variant Fanconi anemia [RCV000981174] Chr16:89773314 [GRCh38]
Chr16:89839722 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.586C>T (p.Leu196=) single nucleotide variant Fanconi anemia [RCV001431969] Chr16:89808304 [GRCh38]
Chr16:89874712 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1413C>T (p.Val471=) single nucleotide variant FANCA-related condition [RCV003948119]|Fanconi anemia [RCV000866653]|Fanconi anemia complementation group A [RCV001116989] Chr16:89784911 [GRCh38]
Chr16:89851319 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.135A>G (p.Glu45=) single nucleotide variant Fanconi anemia [RCV000868075]|not provided [RCV003478539] Chr16:89815931 [GRCh38]
Chr16:89882339 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+8G>T single nucleotide variant Fanconi anemia [RCV001412258] Chr16:89816529 [GRCh38]
Chr16:89882937 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.6C>G (p.Ser2=) single nucleotide variant Fanconi anemia [RCV001476077]|Fanconi anemia complementation group A [RCV002503120] Chr16:89816610 [GRCh38]
Chr16:89883018 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.60G>A (p.Arg20=) single nucleotide variant Fanconi anemia [RCV000868415] Chr16:89816556 [GRCh38]
Chr16:89882964 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+10C>T single nucleotide variant Fanconi anemia [RCV001450603] Chr16:89746574 [GRCh38]
Chr16:89812982 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.710-9G>A single nucleotide variant Fanconi anemia [RCV000873705] Chr16:89803350 [GRCh38]
Chr16:89869758 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3223C>T (p.Leu1075=) single nucleotide variant Fanconi anemia [RCV000875440] Chr16:89749746 [GRCh38]
Chr16:89816154 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) duplication Fanconi anemia complementation group A [RCV000779201] Chr16:89749826..89749827 [GRCh38]
Chr16:89816234..89816235 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3241_3626+1del deletion Fanconi anemia [RCV000779594] Chr16:89744958..89748766 [GRCh38]
Chr16:89811366..89815174 [GRCh37]
Chr16:16q24.3		 pathogenic
NG_011706.1:g.13291_71928del deletion Fanconi anemia [RCV000779595] Chr16:89749731..89808368 [GRCh38]
Chr16:89816138..89874775 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe) single nucleotide variant Fanconi anemia [RCV000799241] Chr16:89739281 [GRCh38]
Chr16:89805689 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3984C>A (p.Thr1328=) single nucleotide variant Fanconi anemia [RCV002065870] Chr16:89739504 [GRCh38]
Chr16:89805912 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1824dup (p.Arg609fs) duplication Fanconi anemia [RCV000814027] Chr16:89778802..89778803 [GRCh38]
Chr16:89845210..89845211 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu) single nucleotide variant Fanconi anemia [RCV000797136] Chr16:89796015 [GRCh38]
Chr16:89862423 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg) single nucleotide variant Fanconi anemia [RCV000801292] Chr16:89784921 [GRCh38]
Chr16:89851329 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3954C>G (p.Leu1318=) single nucleotide variant Fanconi anemia [RCV000869540] Chr16:89739534 [GRCh38]
Chr16:89805942 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) single nucleotide variant Fanconi anemia complementation group A [RCV000989669] Chr16:89739133 [GRCh38]
Chr16:89805541 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu) single nucleotide variant Fanconi anemia complementation group A [RCV000989674] Chr16:89808348 [GRCh38]
Chr16:89874756 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) single nucleotide variant Fanconi anemia complementation group A [RCV000989675] Chr16:89814528 [GRCh38]
Chr16:89880936 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) single nucleotide variant Fanconi anemia [RCV000815164]|Fanconi anemia complementation group A [RCV001271611]|not provided [RCV003478516]|not specified [RCV002282378] Chr16:89775807 [GRCh38]
Chr16:89842215 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2851C>A (p.Arg951=) single nucleotide variant Fanconi anemia [RCV000799747] Chr16:89761950 [GRCh38]
Chr16:89828358 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu) single nucleotide variant Fanconi anemia [RCV000816195]|Fanconi anemia complementation group A [RCV002495156] Chr16:89805313 [GRCh38]
Chr16:89871721 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.387G>A (p.Ala129=) single nucleotide variant Fanconi anemia [RCV000801429] Chr16:89810968 [GRCh38]
Chr16:89877376 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe) single nucleotide variant Fanconi anemia [RCV000819546]|Fanconi anemia complementation group A [RCV002501132] Chr16:89792038 [GRCh38]
Chr16:89858446 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val) single nucleotide variant Fanconi anemia [RCV000794630] Chr16:89761986 [GRCh38]
Chr16:89828394 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89864654)_(89866056_?)dup duplication Fanconi anemia [RCV000815906] Chr16:89798246..89799648 [GRCh38]
Chr16:89864654..89866056 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.10:g.(?_89752128)_(89792557_?)del deletion Fanconi anemia [RCV000817942] Chr16:89752128..89792557 [GRCh38]
Chr16:89818536..89858965 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) single nucleotide variant Fanconi anemia [RCV000816328]|Fanconi anemia complementation group A [RCV001274149]|not provided [RCV002478900]|not specified [RCV002271589] Chr16:89784879 [GRCh38]
Chr16:89851287 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.106_108del (p.Asn36del) deletion Fanconi anemia [RCV000821546] Chr16:89815958..89815960 [GRCh38]
Chr16:89882366..89882368 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val) single nucleotide variant Fanconi anemia [RCV000824173]|Fanconi anemia complementation group A [RCV002487858] Chr16:89740815 [GRCh38]
Chr16:89807223 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) single nucleotide variant Fanconi anemia [RCV000808001]|not provided [RCV003480848] Chr16:89784865 [GRCh38]
Chr16:89851273 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile) single nucleotide variant Fanconi anemia [RCV000794692] Chr16:89791476 [GRCh38]
Chr16:89857884 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) single nucleotide variant Fanconi anemia [RCV000814285]|Fanconi anemia complementation group A [RCV001274551] Chr16:89739527 [GRCh38]
Chr16:89805935 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) single nucleotide variant Fanconi anemia [RCV000803393]|Fanconi anemia complementation group A [RCV001274509]|not provided [RCV003478502] Chr16:89738898 [GRCh38]
Chr16:89805306 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) single nucleotide variant Fanconi anemia [RCV000807004]|Fanconi anemia complementation group A [RCV001274156]|not provided [RCV003478509] Chr16:89791481 [GRCh38]
Chr16:89857889 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) single nucleotide variant Fanconi anemia [RCV000807024]|not provided [RCV003478510] Chr16:89770234 [GRCh38]
Chr16:89836642 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.571G>T (p.Val191Leu) single nucleotide variant Fanconi anemia [RCV000814568]|not provided [RCV003478514] Chr16:89808319 [GRCh38]
Chr16:89874727 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) single nucleotide variant Fanconi anemia [RCV000791641]|Fanconi anemia complementation group A [RCV001274662]|not provided [RCV001759486] Chr16:89814603 [GRCh38]
Chr16:89881011 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NC_000016.10:g.(?_89764880)_(89773394_?)del deletion Fanconi anemia [RCV000798821] Chr16:89764880..89773394 [GRCh38]
Chr16:89831288..89839802 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe) single nucleotide variant Fanconi anemia [RCV000801853]|Fanconi anemia complementation group A [RCV002495077] Chr16:89770177 [GRCh38]
Chr16:89836585 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89738591)_(89816625_?)del deletion Fanconi anemia [RCV000808648] Chr16:89738591..89816625 [GRCh38]
Chr16:89804999..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.426+2T>G single nucleotide variant Fanconi anemia [RCV000801912]|Fanconi anemia complementation group A [RCV001256438] Chr16:89810927 [GRCh38]
Chr16:89877335 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2151+4G>A single nucleotide variant Fanconi anemia [RCV000815153] Chr16:89771674 [GRCh38]
Chr16:89838082 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser) single nucleotide variant Fanconi anemia [RCV000815182]|Inborn genetic diseases [RCV003353052] Chr16:89769928 [GRCh38]
Chr16:89836336 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) single nucleotide variant Fanconi anemia [RCV000803891]|Fanconi anemia complementation group A [RCV001276569] Chr16:89815950 [GRCh38]
Chr16:89882358 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His) single nucleotide variant Fanconi anemia [RCV000812802] Chr16:89739133 [GRCh38]
Chr16:89805541 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer) indel Fanconi anemia [RCV000798954] Chr16:89811060..89811061 [GRCh38]
Chr16:89877468..89877469 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly) single nucleotide variant Fanconi anemia [RCV000800443]|not provided [RCV001772062] Chr16:89810754 [GRCh38]
Chr16:89877162 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) single nucleotide variant Fanconi anemia [RCV000803976]|Fanconi anemia complementation group A [RCV001120660] Chr16:89816588 [GRCh38]
Chr16:89882996 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.353C>T (p.Ala118Val) single nucleotide variant Fanconi anemia [RCV000804007]|Fanconi anemia complementation group A [RCV001274660] Chr16:89811002 [GRCh38]
Chr16:89877410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) single nucleotide variant Fanconi anemia [RCV000792471]|Fanconi anemia complementation group A [RCV001276515]|not provided [RCV003478489]|not specified [RCV001816841] Chr16:89758609 [GRCh38]
Chr16:89825017 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) single nucleotide variant Fanconi anemia [RCV000796532]|Fanconi anemia complementation group A [RCV001276495]|not specified [RCV001816853] Chr16:89745035 [GRCh38]
Chr16:89811443 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) single nucleotide variant Fanconi anemia [RCV000813088]|Fanconi anemia complementation group A [RCV001256264] Chr16:89770168 [GRCh38]
Chr16:89836576 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89775732)_(89808377_?)del deletion Fanconi anemia [RCV000810685] Chr16:89775732..89808377 [GRCh38]
Chr16:89842140..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr) single nucleotide variant Fanconi anemia [RCV000799065]|not provided [RCV003478496] Chr16:89815927 [GRCh38]
Chr16:89882335 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys) single nucleotide variant Fanconi anemia [RCV000818673] Chr16:89805362 [GRCh38]
Chr16:89871770 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln) single nucleotide variant Fanconi anemia [RCV000804086] Chr16:89739249 [GRCh38]
Chr16:89805657 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.86G>T (p.Arg29Met) single nucleotide variant Fanconi anemia [RCV000822301]|Fanconi anemia complementation group A [RCV001274664] Chr16:89815980 [GRCh38]
Chr16:89882388 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr) single nucleotide variant Fanconi anemia [RCV000799086] Chr16:89739261 [GRCh38]
Chr16:89805669 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) single nucleotide variant Fanconi anemia [RCV000870231]|Fanconi anemia complementation group A [RCV001115562]|Inborn genetic diseases [RCV002539952] Chr16:89779952 [GRCh38]
Chr16:89846360 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1135C>T (p.Leu379=) single nucleotide variant Fanconi anemia [RCV000871202] Chr16:89792017 [GRCh38]
Chr16:89858425 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr) single nucleotide variant Fanconi anemia [RCV000813449] Chr16:89792050 [GRCh38]
Chr16:89858458 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3239+1dup duplication Fanconi anemia [RCV000821969]|Fanconi anemia complementation group A [RCV003448350] Chr16:89749728..89749729 [GRCh38]
Chr16:89816136..89816137 [GRCh37]
Chr16:16q24.3		 pathogenic|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His) single nucleotide variant Fanconi anemia [RCV000809071] Chr16:89748756 [GRCh38]
Chr16:89815164 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val) indel Fanconi anemia [RCV000809554] Chr16:89808347..89808348 [GRCh38]
Chr16:89874755..89874756 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val) single nucleotide variant Fanconi anemia [RCV000819591]|Ovarian cancer [RCV003153864] Chr16:89742865 [GRCh38]
Chr16:89809273 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
GRCh37/hg19 16q24.3(chr16:89662327-89927634)x1 copy number loss not provided [RCV000849906] Chr16:89662327..89927634 [GRCh37]
Chr16:16q24.3		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787387] Chr16:89818479..89858211 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1630dup (p.His544fs) duplication Fanconi anemia [RCV000823140] Chr16:89779953..89779954 [GRCh38]
Chr16:89846361..89846362 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) single nucleotide variant Fanconi anemia [RCV000823169]|not provided [RCV003325309] Chr16:89745064 [GRCh38]
Chr16:89811472 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val) single nucleotide variant Fanconi anemia [RCV000807171]|Fanconi anemia complementation group A [RCV002501089] Chr16:89791431 [GRCh38]
Chr16:89857839 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys) single nucleotide variant Fanconi anemia [RCV000818146] Chr16:89792544 [GRCh38]
Chr16:89858952 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89803502-89896259)x1 copy number loss not provided [RCV000847218] Chr16:89803502..89896259 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.596+5C>T single nucleotide variant Fanconi anemia [RCV000824327]|not provided [RCV003478523] Chr16:89808289 [GRCh38]
Chr16:89874697 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89791393)_(89816625_?)del deletion Fanconi anemia [RCV000796129] Chr16:89791393..89816625 [GRCh38]
Chr16:89857801..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro) single nucleotide variant Fanconi anemia [RCV000824539] Chr16:89740020 [GRCh38]
Chr16:89806428 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89811357)_(89851382_?)dup duplication Fanconi anemia [RCV000799425] Chr16:89744949..89784974 [GRCh38]
Chr16:89811357..89851382 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2739_2740del (p.His913fs) microsatellite FANCA-related condition [RCV003396401]|Fanconi anemia [RCV000802326] Chr16:89764928..89764929 [GRCh38]
Chr16:89831336..89831337 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu) single nucleotide variant Fanconi anemia [RCV000805623]|Inborn genetic diseases [RCV002534811] Chr16:89749776 [GRCh38]
Chr16:89816184 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) single nucleotide variant Fanconi anemia [RCV000792843]|Fanconi anemia complementation group A [RCV002487646]|not provided [RCV003233850] Chr16:89771740 [GRCh38]
Chr16:89838148 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) deletion Fanconi anemia [RCV000795080]|Fanconi anemia complementation group A [RCV001256529] Chr16:89738694 [GRCh38]
Chr16:89805102 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser) single nucleotide variant Fanconi anemia complementation group A [RCV001115559] Chr16:89778966 [GRCh38]
Chr16:89845374 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2317-1G>T single nucleotide variant Fanconi anemia [RCV000811635] Chr16:89770025 [GRCh38]
Chr16:89836433 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.10:g.(?_89778791)_(89920222_?)dup duplication Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001031860] Chr16:89845199..89986630 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1470G>C (p.Gln490His) single nucleotide variant Fanconi anemia [RCV001068184] Chr16:89784854 [GRCh38]
Chr16:89851262 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser) single nucleotide variant Fanconi anemia [RCV000810494]|Fanconi anemia complementation group A [RCV002495121]|not specified [RCV001816880] Chr16:89778819 [GRCh38]
Chr16:89845227 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1575G>A (p.Gln525=) single nucleotide variant Fanconi anemia complementation group A [RCV001118334] Chr16:89737976 [GRCh38]
Chr16:89804384 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89795896)_(89805402_?)del deletion Fanconi anemia [RCV001031493] Chr16:89862304..89871810 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89748649)_(89765076_?)del deletion Fanconi anemia [RCV001031549] Chr16:89815057..89831484 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp) single nucleotide variant Fanconi anemia [RCV001207614]|Fanconi anemia complementation group A [RCV001118442]|not provided [RCV003238305] Chr16:89739247 [GRCh38]
Chr16:89805655 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val) single nucleotide variant Fanconi anemia [RCV001350777]|Fanconi anemia complementation group A [RCV001116990] Chr16:89784916 [GRCh38]
Chr16:89851324 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=) single nucleotide variant Fanconi anemia [RCV002556516]|Fanconi anemia complementation group A [RCV001118441] Chr16:89739244 [GRCh38]
Chr16:89805652 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1900+1G>T single nucleotide variant Fanconi anemia [RCV000809003]|Fanconi anemia complementation group A [RCV003467430] Chr16:89775741 [GRCh38]
Chr16:89842149 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) single nucleotide variant Fanconi anemia [RCV001240295]|Fanconi anemia complementation group A [RCV001118525] Chr16:89748733 [GRCh38]
Chr16:89815141 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.4128T>C (p.Val1376=) single nucleotide variant Fanconi anemia [RCV001399560]|Fanconi anemia complementation group A [RCV001115285] Chr16:89739172 [GRCh38]
Chr16:89805580 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) single nucleotide variant Fanconi anemia [RCV000801557]|Fanconi anemia complementation group A [RCV003461133] Chr16:89791994 [GRCh38]
Chr16:89858402 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) single nucleotide variant Fanconi anemia [RCV000801692]|Fanconi anemia complementation group A [RCV001271603]|Ovarian cancer [RCV003153842]|not provided [RCV003334022] Chr16:89771749 [GRCh38]
Chr16:89838157 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn) single nucleotide variant Fanconi anemia [RCV000807357]|Fanconi anemia complementation group A [RCV001274143] Chr16:89783015 [GRCh38]
Chr16:89849423 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.361G>A (p.Val121Met) single nucleotide variant Fanconi anemia [RCV000816187] Chr16:89810994 [GRCh38]
Chr16:89877402 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro) single nucleotide variant Fanconi anemia [RCV000808445] Chr16:89746585 [GRCh38]
Chr16:89812993 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) single nucleotide variant Fanconi anemia [RCV000799851]|Fanconi anemia complementation group A [RCV001256218] Chr16:89814545 [GRCh38]
Chr16:89880953 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) single nucleotide variant Fanconi anemia [RCV000803115] Chr16:89808342 [GRCh38]
Chr16:89874750 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89791402)_(89816615_?)del deletion Fanconi anemia [RCV000800033] Chr16:89791402..89816615 [GRCh38]
Chr16:89857810..89883023 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89752128)_(89816625_?)del deletion Fanconi anemia [RCV000800676] Chr16:89752128..89816625 [GRCh38]
Chr16:89818536..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.700A>G (p.Met234Val) single nucleotide variant Fanconi anemia [RCV000811308]|Fanconi anemia complementation group A [RCV002495124] Chr16:89805289 [GRCh38]
Chr16:89871697 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) single nucleotide variant FANCA-related condition [RCV003413593]|Fanconi anemia [RCV000794893]|Fanconi anemia complementation group A [RCV001117077] Chr16:89805288 [GRCh38]
Chr16:89871696 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser) single nucleotide variant Fanconi anemia [RCV000813381] Chr16:89775799 [GRCh38]
Chr16:89842207 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His) single nucleotide variant Fanconi anemia [RCV000816819]|Fanconi anemia complementation group A [RCV001256612]|not provided [RCV003128728] Chr16:89748719 [GRCh38]
Chr16:89815127 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.801T>C (p.Val267=) single nucleotide variant FANCA-related condition [RCV003948176]|Fanconi anemia [RCV000871880]|Fanconi anemia complementation group A [RCV002501314] Chr16:89799630 [GRCh38]
Chr16:89866038 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) single nucleotide variant FANCA-related condition [RCV003928338]|Fanconi anemia [RCV000861812]|Fanconi anemia complementation group A [RCV001274555]|not provided [RCV002478951] Chr16:89740831 [GRCh38]
Chr16:89807239 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) single nucleotide variant Fanconi anemia [RCV000803831]|Fanconi anemia complementation group A [RCV001256229] Chr16:89803261 [GRCh38]
Chr16:89869669 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89782849)_(89784974_?)del deletion Fanconi anemia [RCV000804607] Chr16:89782849..89784974 [GRCh38]
Chr16:89849257..89851382 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr) single nucleotide variant Fanconi anemia [RCV000820544]|Fanconi anemia complementation group A [RCV002487832] Chr16:89764927 [GRCh38]
Chr16:89831335 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1563C>T (p.Leu521=) single nucleotide variant Fanconi anemia [RCV001494235] Chr16:89783010 [GRCh38]
Chr16:89849418 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.190-7A>T single nucleotide variant Fanconi anemia [RCV001432814] Chr16:89814620 [GRCh38]
Chr16:89881028 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=) single nucleotide variant Fanconi anemia [RCV001477262] Chr16:89744988 [GRCh38]
Chr16:89811396 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) single nucleotide variant Fanconi anemia [RCV000863938]|Fanconi anemia complementation group A [RCV001280429]|not provided [RCV003413680] Chr16:89749882 [GRCh38]
Chr16:89816290 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2172G>T (p.Thr724=) single nucleotide variant Fanconi anemia [RCV001499630] Chr16:89770614 [GRCh38]
Chr16:89837022 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.405G>A (p.Val135=) single nucleotide variant Fanconi anemia [RCV001422850] Chr16:89810950 [GRCh38]
Chr16:89877358 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn) single nucleotide variant Fanconi anemia [RCV000809586] Chr16:89815973 [GRCh38]
Chr16:89882381 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2852+2T>G single nucleotide variant Fanconi anemia [RCV000798008] Chr16:89761947 [GRCh38]
Chr16:89828355 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr) single nucleotide variant Fanconi anemia [RCV000814430]|Fanconi anemia complementation group A [RCV002487783] Chr16:89775768 [GRCh38]
Chr16:89842176 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys) single nucleotide variant Fanconi anemia [RCV000817504] Chr16:89778831 [GRCh38]
Chr16:89845239 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89764807)_(89805402_?)del deletion Fanconi anemia [RCV000809317] Chr16:89764807..89805402 [GRCh38]
Chr16:89831215..89871810 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh37/hg19 16q24.3(chr16:89869667-89874775)x1 copy number loss not provided [RCV001092325] Chr16:89869667..89874775 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg) single nucleotide variant Fanconi anemia [RCV001067579] Chr16:89749785 [GRCh38]
Chr16:89816193 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89791393)_(89799648_?)del deletion Fanconi anemia [RCV001031745] Chr16:89857801..89866056 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) single nucleotide variant Fanconi anemia [RCV001858712]|Fanconi anemia complementation group A [RCV000989668]|not provided [RCV001256421] Chr16:89738943 [GRCh38]
Chr16:89805351 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) deletion Fanconi anemia [RCV001381596]|Fanconi anemia complementation group A [RCV000989676] Chr16:89814564..89814567 [GRCh38]
Chr16:89880972..89880975 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89808284)_(89816616_?)del deletion Fanconi anemia [RCV001032223] Chr16:89874692..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1226-12G>C single nucleotide variant Fanconi anemia [RCV002069955]|Fanconi anemia complementation group A [RCV001120262] Chr16:89791548 [GRCh38]
Chr16:89857956 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) single nucleotide variant Fanconi anemia [RCV001506640]|Fanconi anemia complementation group A [RCV001118523] Chr16:89746668 [GRCh38]
Chr16:89813076 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2852+12A>T single nucleotide variant Fanconi anemia complementation group A [RCV001120359] Chr16:89761937 [GRCh38]
Chr16:89828345 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89810697)_(89816616_?)del deletion Fanconi anemia [RCV001032449] Chr16:89877105..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.221_222del (p.Leu74fs) microsatellite Fanconi anemia [RCV001043714] Chr16:89814581..89814582 [GRCh38]
Chr16:89880989..89880990 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2600del (p.Lys867fs) deletion Fanconi anemia [RCV001065034] Chr16:89767142 [GRCh38]
Chr16:89833550 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu) single nucleotide variant Fanconi anemia [RCV001068715]|Fanconi anemia complementation group A [RCV002482122] Chr16:89811011 [GRCh38]
Chr16:89877419 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter) single nucleotide variant Fanconi anemia [RCV001044309] Chr16:89805325 [GRCh38]
Chr16:89871733 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) single nucleotide variant Fanconi anemia [RCV001207580]|Fanconi anemia complementation group A [RCV001115282]|not provided [RCV002480486] Chr16:89738684 [GRCh38]
Chr16:89805092 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr) single nucleotide variant Fanconi anemia [RCV002556569]|Fanconi anemia complementation group A [RCV001120051]|not specified [RCV003493801] Chr16:89749860 [GRCh38]
Chr16:89816268 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89688616-89828326)x1 copy number loss not provided [RCV000847869] Chr16:89688616..89828326 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89828385-89858029)x1 copy number loss not provided [RCV000847562] Chr16:89828385..89858029 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89791403)_(89796018_?)del deletion Fanconi anemia [RCV001032710] Chr16:89857811..89862426 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=) single nucleotide variant Fanconi anemia [RCV000869596]|not provided [RCV003478545] Chr16:89746593 [GRCh38]
Chr16:89813001 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) single nucleotide variant Fanconi anemia [RCV000869661]|not provided [RCV003424405] Chr16:89782871 [GRCh38]
Chr16:89849279 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.10:g.(?_89791393)_(89811081_?)del deletion Fanconi anemia [RCV001032346] Chr16:89857801..89877489 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1146G>A (p.Gln382=) single nucleotide variant Fanconi anemia [RCV001502838] Chr16:89792006 [GRCh38]
Chr16:89858414 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) single nucleotide variant Fanconi anemia [RCV001248615]|Fanconi anemia complementation group A [RCV001563818]|not provided [RCV003478757]|not specified [RCV001819953] Chr16:89749785 [GRCh38]
Chr16:89816193 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln) single nucleotide variant Fanconi anemia [RCV001067214]|Fanconi anemia complementation group A [RCV001271600] Chr16:89770191 [GRCh38]
Chr16:89836599 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89803249)_(89808377_?)del deletion Fanconi anemia [RCV001031473] Chr16:89869657..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89767131)_(89784974_?)del deletion Fanconi anemia [RCV001031539] Chr16:89833539..89851382 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89738591)_(89762032_?)del deletion Fanconi anemia [RCV001031571] Chr16:89804999..89828440 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3627-1G>C single nucleotide variant Fanconi anemia [RCV001213212] Chr16:89742939 [GRCh38]
Chr16:89809347 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1289C>G (p.Ala430Gly) single nucleotide variant Fanconi anemia [RCV001211290] Chr16:89791473 [GRCh38]
Chr16:89857881 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89744949)_(89767247_?)del deletion Fanconi anemia [RCV001032846] Chr16:89811357..89833655 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met) single nucleotide variant Fanconi anemia [RCV001043224]|Fanconi anemia complementation group A [RCV002481901]|not provided [RCV003478673] Chr16:89749776 [GRCh38]
Chr16:89816184 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) deletion Fanconi anemia [RCV001245228]|Fanconi anemia complementation group A [RCV001256410] Chr16:89742926..89742927 [GRCh38]
Chr16:89809334..89809335 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln) single nucleotide variant Fanconi anemia [RCV001247381] Chr16:89742811 [GRCh38]
Chr16:89809219 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu) single nucleotide variant Fanconi anemia [RCV001201709]|Fanconi anemia complementation group A [RCV002484076] Chr16:89770608 [GRCh38]
Chr16:89837016 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.911G>C (p.Gly304Ala) single nucleotide variant Fanconi anemia [RCV001247456] Chr16:89796001 [GRCh38]
Chr16:89862409 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys) single nucleotide variant Fanconi anemia [RCV001248605]|Fanconi anemia complementation group A [RCV002504368] Chr16:89769867 [GRCh38]
Chr16:89836275 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) single nucleotide variant Fanconi anemia [RCV001239057]|Fanconi anemia complementation group A [RCV001330799] Chr16:89773276 [GRCh38]
Chr16:89839684 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.596+4G>A single nucleotide variant Fanconi anemia [RCV001241952] Chr16:89808290 [GRCh38]
Chr16:89874698 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3682G>A (p.Ala1228Thr) single nucleotide variant Fanconi anemia [RCV001223774] Chr16:89742883 [GRCh38]
Chr16:89809291 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile) single nucleotide variant Fanconi anemia [RCV001223864]|Fanconi anemia complementation group A [RCV002484213]|not specified [RCV001819922] Chr16:89792536 [GRCh38]
Chr16:89858944 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter) single nucleotide variant Fanconi anemia [RCV001224011] Chr16:89745031 [GRCh38]
Chr16:89811439 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2504A>C (p.Lys835Thr) single nucleotide variant Fanconi anemia [RCV001243374] Chr16:89769837 [GRCh38]
Chr16:89836245 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1007-3C>T single nucleotide variant Fanconi anemia [RCV001238987]|Fanconi anemia complementation group A [RCV002491781]|not provided [RCV003478748] Chr16:89792550 [GRCh38]
Chr16:89858958 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3349-2A>G single nucleotide variant Fanconi anemia [RCV001239097]|Fanconi anemia complementation group A [RCV001780176] Chr16:89746892 [GRCh38]
Chr16:89813300 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3173C>T (p.Ala1058Val) single nucleotide variant Fanconi anemia [RCV001240740] Chr16:89749796 [GRCh38]
Chr16:89816204 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.284-1G>C single nucleotide variant Fanconi anemia [RCV001222540] Chr16:89811072 [GRCh38]
Chr16:89877480 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1033G>A (p.Glu345Lys) single nucleotide variant Fanconi anemia [RCV001239164] Chr16:89792521 [GRCh38]
Chr16:89858929 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val) single nucleotide variant Fanconi anemia [RCV001240806]|Ovarian cancer [RCV003153955] Chr16:89775753 [GRCh38]
Chr16:89842161 [GRCh37]
Chr16:16q24.3		 benign|likely benign|uncertain significance
NM_000135.4(FANCA):c.1115T>C (p.Val372Ala) single nucleotide variant Fanconi anemia [RCV001226678] Chr16:89792037 [GRCh38]
Chr16:89858445 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1194del (p.Cys399fs) deletion Fanconi anemia [RCV001220629]|not provided [RCV002511058] Chr16:89791958 [GRCh38]
Chr16:89858366 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2111T>A (p.Leu704His) single nucleotide variant Fanconi anemia [RCV001237378] Chr16:89771718 [GRCh38]
Chr16:89838126 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1348G>T (p.Asp450Tyr) single nucleotide variant Fanconi anemia [RCV001224852] Chr16:89791414 [GRCh38]
Chr16:89857822 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.213A>T (p.Lys71Asn) single nucleotide variant Fanconi anemia [RCV001241215] Chr16:89814590 [GRCh38]
Chr16:89880998 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1126C>G (p.Gln376Glu) single nucleotide variant Fanconi anemia [RCV001234829] Chr16:89792026 [GRCh38]
Chr16:89858434 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter) single nucleotide variant Fanconi anemia [RCV001234856] Chr16:89816546 [GRCh38]
Chr16:89882954 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser) single nucleotide variant Fanconi anemia [RCV001206646] Chr16:89769904 [GRCh38]
Chr16:89836312 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.488G>A (p.Arg163His) single nucleotide variant Fanconi anemia [RCV001241391]|Fanconi anemia complementation group A [RCV002491804]|not provided [RCV003478749] Chr16:89810741 [GRCh38]
Chr16:89877149 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1438C>T (p.Leu480Phe) single nucleotide variant Fanconi anemia [RCV001220924] Chr16:89784886 [GRCh38]
Chr16:89851294 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.88G>A (p.Val30Ile) single nucleotide variant Fanconi anemia [RCV001235093] Chr16:89815978 [GRCh38]
Chr16:89882386 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2368C>G (p.His790Asp) single nucleotide variant Fanconi anemia [RCV001206908] Chr16:89769973 [GRCh38]
Chr16:89836381 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.765A>C (p.Arg255Ser) single nucleotide variant Fanconi anemia [RCV001240480] Chr16:89803286 [GRCh38]
Chr16:89869694 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2151+1dup duplication Fanconi anemia [RCV001241531]|Fanconi anemia complementation group A [RCV002491805] Chr16:89771676..89771677 [GRCh38]
Chr16:89838084..89838085 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.499T>C (p.Cys167Arg) single nucleotide variant Fanconi anemia [RCV001243514] Chr16:89810730 [GRCh38]
Chr16:89877138 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4186A>T (p.Ile1396Leu) single nucleotide variant Fanconi anemia [RCV001228261] Chr16:89738956 [GRCh38]
Chr16:89805364 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg) single nucleotide variant Fanconi anemia [RCV001221776]|Fanconi anemia complementation group A [RCV002504280] Chr16:89810959 [GRCh38]
Chr16:89877367 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.160C>T (p.His54Tyr) single nucleotide variant Fanconi anemia [RCV001240545] Chr16:89815906 [GRCh38]
Chr16:89882314 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.856C>G (p.Gln286Glu) single nucleotide variant Fanconi anemia [RCV001240550] Chr16:89799203 [GRCh38]
Chr16:89865611 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro) single nucleotide variant Fanconi anemia [RCV001240675]|Fanconi anemia complementation group A [RCV002484318] Chr16:89749773 [GRCh38]
Chr16:89816181 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1226-4C>G single nucleotide variant Fanconi anemia [RCV001225926]|Fanconi anemia complementation group A [RCV002504293]|not provided [RCV003478741] Chr16:89791540 [GRCh38]
Chr16:89857948 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.910G>C (p.Gly304Arg) single nucleotide variant Fanconi anemia [RCV001242150] Chr16:89796002 [GRCh38]
Chr16:89862410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3542T>G (p.Leu1181Arg) single nucleotide variant Fanconi anemia [RCV001214940] Chr16:89745043 [GRCh38]
Chr16:89811451 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe) single nucleotide variant Fanconi anemia [RCV001238402] Chr16:89740004 [GRCh38]
Chr16:89806412 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile) single nucleotide variant Fanconi anemia [RCV001225538]|Fanconi anemia complementation group A [RCV001563817] Chr16:89779950 [GRCh38]
Chr16:89846358 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.891_893+1del deletion Fanconi anemia [RCV001247635]|Fanconi anemia complementation group A [RCV001256455] Chr16:89799165..89799168 [GRCh38]
Chr16:89865573..89865576 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2147A>G (p.His716Arg) single nucleotide variant Fanconi anemia [RCV001246216]|Fanconi anemia complementation group A [RCV002491829] Chr16:89771682 [GRCh38]
Chr16:89838090 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2305C>G (p.Leu769Val) single nucleotide variant Fanconi anemia [RCV001222248] Chr16:89770177 [GRCh38]
Chr16:89836585 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3569A>G (p.Gln1190Arg) single nucleotide variant Fanconi anemia [RCV001229549] Chr16:89745016 [GRCh38]
Chr16:89811424 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe) single nucleotide variant FANCA-related condition [RCV003426014]|Fanconi anemia [RCV001247242]|Fanconi anemia complementation group A [RCV003387442] Chr16:89816590 [GRCh38]
Chr16:89882998 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu) single nucleotide variant Fanconi anemia [RCV001242343]|Inborn genetic diseases [RCV002564025] Chr16:89816569 [GRCh38]
Chr16:89882977 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3231G>A (p.Met1077Ile) single nucleotide variant Fanconi anemia [RCV001238715] Chr16:89749738 [GRCh38]
Chr16:89816146 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter) single nucleotide variant Fanconi anemia [RCV001204408] Chr16:89764958 [GRCh38]
Chr16:89831366 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2716G>A (p.Ala906Thr) single nucleotide variant Fanconi anemia [RCV001202319] Chr16:89764952 [GRCh38]
Chr16:89831360 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1183G>A (p.Ala395Thr) single nucleotide variant Fanconi anemia [RCV001216534] Chr16:89791969 [GRCh38]
Chr16:89858377 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2467A>T (p.Thr823Ser) single nucleotide variant Fanconi anemia [RCV001213545] Chr16:89769874 [GRCh38]
Chr16:89836282 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.427_428delinsTG (p.Lys143Trp) indel Fanconi anemia [RCV001231125] Chr16:89810801..89810802 [GRCh38]
Chr16:89877209..89877210 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) single nucleotide variant Fanconi anemia [RCV001204506]|Fanconi anemia complementation group A [RCV002480666]|not provided [RCV003478731] Chr16:89765006 [GRCh38]
Chr16:89831414 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2785del (p.Tyr929fs) deletion not provided [RCV003312361] Chr16:89762016 [GRCh38]
Chr16:89828424 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.1685G>A (p.Arg562Gln) single nucleotide variant Inborn genetic diseases [RCV003269568] Chr16:89738086 [GRCh38]
Chr16:89804494 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3226C>G (p.Leu1076Val) single nucleotide variant Fanconi anemia [RCV001245968] Chr16:89749743 [GRCh38]
Chr16:89816151 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.893+5G>C single nucleotide variant not provided [RCV001091064] Chr16:89799161 [GRCh38]
Chr16:89865569 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*211C>G single nucleotide variant Fanconi anemia complementation group A [RCV001121852] Chr16:89738457 [GRCh38]
Chr16:89804865 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*313T>A single nucleotide variant Fanconi anemia complementation group A [RCV001121856] Chr16:89738559 [GRCh38]
Chr16:89804967 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.39G>C (p.Gln13His) single nucleotide variant Fanconi anemia [RCV001246397] Chr16:89816577 [GRCh38]
Chr16:89882985 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.262A>T (p.Asn88Tyr) single nucleotide variant Fanconi anemia [RCV001247629] Chr16:89814541 [GRCh38]
Chr16:89880949 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn) single nucleotide variant Fanconi anemia [RCV001246535] Chr16:89805385 [GRCh38]
Chr16:89871793 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2T>G (p.Met1Arg) single nucleotide variant Fanconi anemia [RCV001202859]|Fanconi anemia complementation group A [RCV001256436] Chr16:89816614 [GRCh38]
Chr16:89883022 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3397del (p.His1133fs) deletion Fanconi anemia [RCV001227821]|Fanconi anemia complementation group A [RCV001256288] Chr16:89746842 [GRCh38]
Chr16:89813250 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.3287A>G (p.Gln1096Arg) single nucleotide variant Fanconi anemia [RCV001247927] Chr16:89748720 [GRCh38]
Chr16:89815128 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*631G>A single nucleotide variant Fanconi anemia [RCV003105216]|not specified [RCV003396890] Chr16:89738877 [GRCh38]
Chr16:89805285 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3396C>G (p.Ala1132=) single nucleotide variant Fanconi anemia [RCV003105223] Chr16:89746843 [GRCh38]
Chr16:89813251 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.994C>T (p.Pro332Ser) single nucleotide variant Fanconi anemia [RCV003104870] Chr16:89795918 [GRCh38]
Chr16:89862326 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.793-114T>C single nucleotide variant not provided [RCV001665065] Chr16:89799752 [GRCh38]
Chr16:89866160 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2779-55C>G single nucleotide variant not provided [RCV001549877] Chr16:89762077 [GRCh38]
Chr16:89828485 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.792+263A>G single nucleotide variant not provided [RCV001571713] Chr16:89802996 [GRCh38]
Chr16:89869404 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-70C>G single nucleotide variant not provided [RCV001577114] Chr16:89767307 [GRCh38]
Chr16:89833715 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.126A>G (p.Lys42=) single nucleotide variant Fanconi anemia [RCV003106808] Chr16:89815940 [GRCh38]
Chr16:89882348 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-215C>T single nucleotide variant not provided [RCV001553368] Chr16:89779218 [GRCh38]
Chr16:89845626 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-119C>T single nucleotide variant not provided [RCV001559976] Chr16:89743057 [GRCh38]
Chr16:89809465 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.190-173del deletion not provided [RCV001675065] Chr16:89814786 [GRCh38]
Chr16:89881194 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3348+260A>G single nucleotide variant not provided [RCV001716961] Chr16:89748399 [GRCh38]
Chr16:89814807 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1826+144_1826+148dup duplication not provided [RCV001555053] Chr16:89778627..89778628 [GRCh38]
Chr16:89845035..89845036 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3066+55A>G single nucleotide variant not provided [RCV001617817] Chr16:89752083 [GRCh38]
Chr16:89818491 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.893+332A>G single nucleotide variant not provided [RCV001678541] Chr16:89798834 [GRCh38]
Chr16:89865242 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3240-146G>A single nucleotide variant not provided [RCV001690534] Chr16:89748913 [GRCh38]
Chr16:89815321 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2504+161T>C single nucleotide variant Fanconi anemia [RCV001827540]|not provided [RCV001588718] Chr16:89769676 [GRCh38]
Chr16:89836084 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.3514-317A>G single nucleotide variant not provided [RCV001617964] Chr16:89745388 [GRCh38]
Chr16:89811796 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1750del (p.Leu584fs) deletion Fanconi anemia [RCV001615357] Chr16:89778969 [GRCh38]
Chr16:89845377 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3349-158G>A single nucleotide variant not provided [RCV001708891] Chr16:89747048 [GRCh38]
Chr16:89813456 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3349-291G>A single nucleotide variant not provided [RCV001708964] Chr16:89747181 [GRCh38]
Chr16:89813589 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3066+281C>T single nucleotide variant not provided [RCV001688758] Chr16:89751857 [GRCh38]
Chr16:89818265 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3626+171A>G single nucleotide variant not provided [RCV001644020] Chr16:89744788 [GRCh38]
Chr16:89811196 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*556C>A single nucleotide variant not provided [RCV001586715] Chr16:89738802 [GRCh38]
Chr16:89805210 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4:c.874_2982del deletion Fanconi anemia [RCV001615355]   pathogenic
NM_000135.4:c.2853_*580del deletion Fanconi anemia [RCV001615359]   pathogenic
NM_000135.4(FANCA):c.1795del (p.Ser599fs) deletion Fanconi anemia [RCV001615365] Chr16:89778832 [GRCh38]
Chr16:89845240 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2559_2564del (p.Asp854_Thr855del) deletion Fanconi anemia [RCV001615369] Chr16:89767178..89767183 [GRCh38]
Chr16:89833586..89833591 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3409-2A>C single nucleotide variant Fanconi anemia [RCV001615371] Chr16:89746690 [GRCh38]
Chr16:89813098 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1006+159C>G single nucleotide variant not provided [RCV001652225] Chr16:89795747 [GRCh38]
Chr16:89862155 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1626+185C>A single nucleotide variant not provided [RCV001592104] Chr16:89782674 [GRCh38]
Chr16:89849082 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-184A>G single nucleotide variant not provided [RCV001719165] Chr16:89745255 [GRCh38]
Chr16:89811663 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*1409G>C single nucleotide variant not provided [RCV001689034] Chr16:89739655 [GRCh38]
Chr16:89806063 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2015-151C>G single nucleotide variant not provided [RCV001551691] Chr16:89771965 [GRCh38]
Chr16:89838373 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3067-97T>C single nucleotide variant not provided [RCV001654589] Chr16:89749999 [GRCh38]
Chr16:89816407 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1226-1G>C single nucleotide variant Fanconi anemia [RCV001889270] Chr16:89791537 [GRCh38]
Chr16:89857945 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.284-241G>A single nucleotide variant not provided [RCV001616189] Chr16:89811312 [GRCh38]
Chr16:89877720 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3766-142T>C single nucleotide variant not provided [RCV001558345] Chr16:89741008 [GRCh38]
Chr16:89807416 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+42G>T single nucleotide variant not provided [RCV001609311] Chr16:89773229 [GRCh38]
Chr16:89839637 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3067-114C>A single nucleotide variant not provided [RCV001595527] Chr16:89750016 [GRCh38]
Chr16:89816424 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1715+227G>A single nucleotide variant not provided [RCV001609404] Chr16:89779642 [GRCh38]
Chr16:89846050 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1826+98A>G single nucleotide variant not provided [RCV001694544] Chr16:89778703 [GRCh38]
Chr16:89845111 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1359+111T>C single nucleotide variant not provided [RCV001614560] Chr16:89791292 [GRCh38]
Chr16:89857700 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.190-55G>T single nucleotide variant not provided [RCV001617563] Chr16:89814668 [GRCh38]
Chr16:89881076 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2852+137T>C single nucleotide variant not provided [RCV001696743] Chr16:89761812 [GRCh38]
Chr16:89828220 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3912A>G (p.Ala1304=) single nucleotide variant Fanconi anemia [RCV000861438]|not provided [RCV003478527]|not specified [RCV001816927] Chr16:89740016 [GRCh38]
Chr16:89806424 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4281C>T (p.Asp1427=) single nucleotide variant Fanconi anemia [RCV001433736] Chr16:89738688 [GRCh38]
Chr16:89805096 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.255C>A (p.Ala85=) single nucleotide variant Fanconi anemia [RCV000868838] Chr16:89814548 [GRCh38]
Chr16:89880956 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.687C>T (p.Asp229=) single nucleotide variant Fanconi anemia [RCV000873048]|not provided [RCV002478985] Chr16:89805302 [GRCh38]
Chr16:89871710 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3924G>A (p.Leu1308=) single nucleotide variant Fanconi anemia [RCV000874850] Chr16:89740004 [GRCh38]
Chr16:89806412 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) single nucleotide variant Fanconi anemia [RCV001468852]|Fanconi anemia complementation group A [RCV002502719] Chr16:89742935 [GRCh38]
Chr16:89809343 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.303A>G (p.Gln101=) single nucleotide variant Fanconi anemia [RCV000862676] Chr16:89811052 [GRCh38]
Chr16:89877460 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-9_523-7del deletion Fanconi anemia [RCV001468015] Chr16:89808374..89808376 [GRCh38]
Chr16:89874782..89874784 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+1G>C single nucleotide variant Fanconi anemia [RCV001241985]|Fanconi anemia complementation group A [RCV000853504]|not provided [RCV003148887] Chr16:89773270 [GRCh38]
Chr16:89839678 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3534G>A (p.Glu1178=) single nucleotide variant Fanconi anemia [RCV001448349] Chr16:89745051 [GRCh38]
Chr16:89811459 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-10G>C single nucleotide variant Fanconi anemia [RCV000862242]|Fanconi anemia complementation group A [RCV001276550] Chr16:89770644 [GRCh38]
Chr16:89837052 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.3024T>C (p.Phe1008=) single nucleotide variant Fanconi anemia [RCV001444319] Chr16:89752180 [GRCh38]
Chr16:89818588 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2535C>T (p.Leu845=) single nucleotide variant Fanconi anemia [RCV001505345] Chr16:89767207 [GRCh38]
Chr16:89833615 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3102C>T (p.Leu1034=) single nucleotide variant Fanconi anemia [RCV001501028] Chr16:89749867 [GRCh38]
Chr16:89816275 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3552G>A (p.Arg1184=) single nucleotide variant Fanconi anemia [RCV000866950] Chr16:89745033 [GRCh38]
Chr16:89811441 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) single nucleotide variant FANCA-related condition [RCV003895295]|Fanconi anemia [RCV000869184]|Fanconi anemia complementation group A [RCV002507505]|not provided [RCV003478543] Chr16:89778964 [GRCh38]
Chr16:89845372 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*471G>A single nucleotide variant Fanconi anemia [RCV000870305] Chr16:89738717 [GRCh38]
Chr16:89805125 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=) single nucleotide variant Fanconi anemia [RCV001496591]|Fanconi anemia complementation group A [RCV001274563] Chr16:89748737 [GRCh38]
Chr16:89815145 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.423G>A (p.Gln141=) single nucleotide variant Fanconi anemia [RCV000975771] Chr16:89810932 [GRCh38]
Chr16:89877340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2700T>C (p.Ser900=) single nucleotide variant Fanconi anemia [RCV001476950] Chr16:89764968 [GRCh38]
Chr16:89831376 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.561A>G (p.Val187=) single nucleotide variant Fanconi anemia [RCV000901151] Chr16:89808329 [GRCh38]
Chr16:89874737 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) single nucleotide variant Fanconi anemia [RCV000875584]|Fanconi anemia complementation group A [RCV002495316] Chr16:89770019 [GRCh38]
Chr16:89836427 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) single nucleotide variant Fanconi anemia [RCV000870464]|Fanconi anemia complementation group A [RCV002495295]|not provided [RCV003478547]|not specified [RCV001816998] Chr16:89778985 [GRCh38]
Chr16:89845393 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) single nucleotide variant Fanconi anemia [RCV001416094]|Fanconi anemia complementation group A [RCV002507512] Chr16:89778964 [GRCh38]
Chr16:89845372 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-10T>C single nucleotide variant Fanconi anemia [RCV000915248] Chr16:89765076 [GRCh38]
Chr16:89831484 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2803C>T (p.Leu935=) single nucleotide variant Fanconi anemia [RCV001414507] Chr16:89761998 [GRCh38]
Chr16:89828406 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1360-10C>G single nucleotide variant FANCA-related condition [RCV003975391]|Fanconi anemia [RCV000862982]|Fanconi anemia complementation group A [RCV001274151]|not specified [RCV001816952] Chr16:89784974 [GRCh38]
Chr16:89851382 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.1839C>T (p.Ile613=) single nucleotide variant Fanconi anemia [RCV001450680] Chr16:89775803 [GRCh38]
Chr16:89842211 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1494G>C (p.Leu498=) single nucleotide variant Fanconi anemia [RCV000875581] Chr16:89783079 [GRCh38]
Chr16:89849487 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-10C>G single nucleotide variant Fanconi anemia [RCV001457813] Chr16:89767247 [GRCh38]
Chr16:89833655 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3711C>G (p.Val1237=) single nucleotide variant Fanconi anemia [RCV000865328] Chr16:89742854 [GRCh38]
Chr16:89809262 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3699G>A (p.Ala1233=) single nucleotide variant Fanconi anemia [RCV000867958] Chr16:89742866 [GRCh38]
Chr16:89809274 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1695A>T (p.Pro565=) single nucleotide variant Fanconi anemia [RCV000872179] Chr16:89779889 [GRCh38]
Chr16:89846297 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.270T>C (p.Ser90=) single nucleotide variant Fanconi anemia [RCV001482685] Chr16:89814533 [GRCh38]
Chr16:89880941 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2409G>C (p.Val803=) single nucleotide variant Fanconi anemia [RCV001436366] Chr16:89769932 [GRCh38]
Chr16:89836340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1887A>G (p.Glu629=) single nucleotide variant Fanconi anemia [RCV001403187] Chr16:89775755 [GRCh38]
Chr16:89842163 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427-8C>T single nucleotide variant Fanconi anemia [RCV001393121] Chr16:89810810 [GRCh38]
Chr16:89877218 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.402T>C (p.Pro134=) single nucleotide variant Fanconi anemia [RCV000874197]|Fanconi anemia complementation group A [RCV001118713] Chr16:89810953 [GRCh38]
Chr16:89877361 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr) single nucleotide variant Fanconi anemia [RCV001228182] Chr16:89770574 [GRCh38]
Chr16:89836982 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala) single nucleotide variant Fanconi anemia [RCV001070981]|not provided [RCV003478690] Chr16:89773286 [GRCh38]
Chr16:89839694 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) single nucleotide variant Fanconi anemia [RCV001247464]|Fanconi anemia complementation group A [RCV001563815] Chr16:89742868 [GRCh38]
Chr16:89809276 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4168-2A>G single nucleotide variant Fanconi anemia [RCV001071425]|Fanconi anemia complementation group A [RCV001256418] Chr16:89738976 [GRCh38]
Chr16:89805384 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2209G>A (p.Ala737Thr) single nucleotide variant Fanconi anemia [RCV001239451] Chr16:89770577 [GRCh38]
Chr16:89836985 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu) single nucleotide variant Fanconi anemia [RCV001243036] Chr16:89739207 [GRCh38]
Chr16:89805615 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1781C>A (p.Pro594His) single nucleotide variant Fanconi anemia [RCV001244955]|Fanconi anemia complementation group A [RCV002484359] Chr16:89778846 [GRCh38]
Chr16:89845254 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*630C>A single nucleotide variant Fanconi anemia [RCV001050409]|Fanconi anemia complementation group A [RCV002479310] Chr16:89738876 [GRCh38]
Chr16:89805284 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer) indel Fanconi anemia [RCV001222888] Chr16:89792008..89792010 [GRCh38]
Chr16:89858416..89858418 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*183C>T single nucleotide variant Fanconi anemia complementation group A [RCV001119872] Chr16:89738429 [GRCh38]
Chr16:89804837 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu) single nucleotide variant Fanconi anemia [RCV002556270]|Fanconi anemia complementation group A [RCV001115561] Chr16:89779894 [GRCh38]
Chr16:89846302 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.23A>T (p.Asn8Ile) single nucleotide variant Fanconi anemia [RCV001202667] Chr16:89816593 [GRCh38]
Chr16:89883001 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.667G>A (p.Ala223Thr) single nucleotide variant Fanconi anemia [RCV001216649] Chr16:89805322 [GRCh38]
Chr16:89871730 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3849G>T (p.Lys1283Asn) single nucleotide variant Fanconi anemia [RCV001208560] Chr16:89740079 [GRCh38]
Chr16:89806487 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.718C>G (p.Gln240Glu) single nucleotide variant Fanconi anemia [RCV001240013] Chr16:89803333 [GRCh38]
Chr16:89869741 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter) insertion Fanconi anemia [RCV001223697] Chr16:89778805..89778806 [GRCh38]
Chr16:89845213..89845214 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) single nucleotide variant Fanconi anemia [RCV001243575]|Fanconi anemia complementation group A [RCV002480819]|not provided [RCV003478751] Chr16:89773321 [GRCh38]
Chr16:89839729 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1902T>G (p.Asp634Glu) single nucleotide variant Fanconi anemia [RCV001243644] Chr16:89773383 [GRCh38]
Chr16:89839791 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) single nucleotide variant Fanconi anemia [RCV001245328]|Fanconi anemia complementation group A [RCV001578976] Chr16:89738669 [GRCh38]
Chr16:89805077 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu) single nucleotide variant Fanconi anemia [RCV001245387]|Fanconi anemia complementation group A [RCV002484366] Chr16:89770206 [GRCh38]
Chr16:89836614 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu) single nucleotide variant Fanconi anemia [RCV001205808]|Fanconi anemia complementation group A [RCV001293882] Chr16:89742815 [GRCh38]
Chr16:89809223 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2456A>T (p.Asp819Val) single nucleotide variant Fanconi anemia [RCV001223799] Chr16:89769885 [GRCh38]
Chr16:89836293 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*630C>T single nucleotide variant Fanconi anemia [RCV001245597] Chr16:89738876 [GRCh38]
Chr16:89805284 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4147A>G (p.Ser1383Gly) single nucleotide variant Fanconi anemia [RCV001227782] Chr16:89739153 [GRCh38]
Chr16:89805561 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89748649)_(89758715_?)del deletion Fanconi anemia [RCV001033115] Chr16:89815057..89825123 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs) duplication Fanconi anemia [RCV001045029]|Fanconi anemia complementation group A [RCV001256409] Chr16:89742935..89742936 [GRCh38]
Chr16:89809343..89809344 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3765+2C>T single nucleotide variant Fanconi anemia [RCV001237762]|Fanconi anemia complementation group A [RCV003469445] Chr16:89742798 [GRCh38]
Chr16:89809206 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn) single nucleotide variant Fanconi anemia [RCV001241001]|Fanconi anemia complementation group A [RCV002499397] Chr16:89740090 [GRCh38]
Chr16:89806498 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89738601)_(89816616_?)dup duplication Fanconi anemia [RCV001031117] Chr16:89805009..89883024 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu) single nucleotide variant Fanconi anemia [RCV001224834]|not specified [RCV002249813] Chr16:89778805 [GRCh38]
Chr16:89845213 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89764807)_(89775825_?)del deletion Fanconi anemia [RCV001031215] Chr16:89831215..89842233 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu) single nucleotide variant Fanconi anemia [RCV001243722]|Fanconi anemia complementation group A [RCV002504349] Chr16:89803314 [GRCh38]
Chr16:89869722 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.10:g.(?_89738591)_(89920222_?)del deletion Fanconi anemia [RCV001031495] Chr16:89804999..89986630 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3066+3_3066+9delinsCC indel Fanconi anemia [RCV001241684] Chr16:89752129..89752135 [GRCh38]
Chr16:89818537..89818543 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3605_3606delinsGC (p.Glu1202Gly) indel Fanconi anemia [RCV001243993] Chr16:89744979..89744980 [GRCh38]
Chr16:89811387..89811388 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly) single nucleotide variant Fanconi anemia [RCV001221657]|Fanconi anemia complementation group A [RCV001256610] Chr16:89748741 [GRCh38]
Chr16:89815149 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) single nucleotide variant Fanconi anemia [RCV001244123]|Fanconi anemia complementation group A [RCV002480822]|not specified [RCV003230651] Chr16:89745029 [GRCh38]
Chr16:89811437 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001113525.2(ZNF276):c.*354G>A single nucleotide variant Fanconi anemia complementation group A [RCV000989667] Chr16:89738600 [GRCh38]
Chr16:89805008 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1084-8T>C single nucleotide variant Fanconi anemia [RCV002066353] Chr16:89792076 [GRCh38]
Chr16:89858484 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.792+103C>T single nucleotide variant not provided [RCV001561807] Chr16:89803156 [GRCh38]
Chr16:89869564 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-96C>A single nucleotide variant not provided [RCV001577202] Chr16:89770730 [GRCh38]
Chr16:89837138 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-131C>T single nucleotide variant not provided [RCV001556624] Chr16:89799769 [GRCh38]
Chr16:89866177 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+58A>T single nucleotide variant not provided [RCV001532334] Chr16:89799108 [GRCh38]
Chr16:89865516 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2981+272A>G single nucleotide variant not provided [RCV001562770] Chr16:89758305 [GRCh38]
Chr16:89824713 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2982-102G>C single nucleotide variant not provided [RCV001677341] Chr16:89752324 [GRCh38]
Chr16:89818732 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2505-129G>C single nucleotide variant not provided [RCV001657359] Chr16:89767366 [GRCh38]
Chr16:89833774 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser) single nucleotide variant Fanconi anemia complementation group A [RCV003232890] Chr16:89784957 [GRCh38]
Chr16:89851365 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.283+106G>C single nucleotide variant not provided [RCV001677529] Chr16:89814414 [GRCh38]
Chr16:89880822 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3513+214C>T single nucleotide variant not provided [RCV001719292] Chr16:89746370 [GRCh38]
Chr16:89812778 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.522+116T>C single nucleotide variant not provided [RCV001570742] Chr16:89810591 [GRCh38]
Chr16:89876999 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-53G>A single nucleotide variant not provided [RCV001558352] Chr16:89762075 [GRCh38]
Chr16:89828483 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1826+144_1826+146dup duplication not provided [RCV001552504] Chr16:89778627..89778628 [GRCh38]
Chr16:89845035..89845036 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del deletion Fanconi anemia [RCV003230876] Chr16:89849266..89871801 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg) single nucleotide variant Fanconi anemia complementation group A [RCV001563754] Chr16:89769897 [GRCh38]
Chr16:89836305 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.843G>C (p.Leu281Phe) single nucleotide variant Fanconi anemia complementation group A [RCV001563755] Chr16:89799216 [GRCh38]
Chr16:89865624 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met) single nucleotide variant Fanconi anemia [RCV001882662]|Fanconi anemia complementation group A [RCV001563816] Chr16:89771706 [GRCh38]
Chr16:89838114 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3765+269A>G single nucleotide variant not provided [RCV001655962] Chr16:89742531 [GRCh38]
Chr16:89808939 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3626+274_3626+275dup duplication not provided [RCV001595697] Chr16:89744677..89744678 [GRCh38]
Chr16:89811085..89811086 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2982-278G>A single nucleotide variant not provided [RCV001643624] Chr16:89752500 [GRCh38]
Chr16:89818908 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*1452C>G single nucleotide variant not provided [RCV002469807] Chr16:89739698 [GRCh38]
Chr16:89806106 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-253C>G single nucleotide variant not provided [RCV002469778] Chr16:89773637 [GRCh38]
Chr16:89840045 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2982-358A>G single nucleotide variant not provided [RCV002469825] Chr16:89752580 [GRCh38]
Chr16:89818988 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-11C>A single nucleotide variant Fanconi anemia [RCV002257103] Chr16:89746901 [GRCh38]
Chr16:89813309 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1083+184G>A single nucleotide variant not provided [RCV001636058] Chr16:89792287 [GRCh38]
Chr16:89858695 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln) single nucleotide variant Fanconi anemia [RCV002259205] Chr16:89738618 [GRCh38]
Chr16:89805026 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.597-327_597-326insT insertion not provided [RCV001720365] Chr16:89805718..89805719 [GRCh38]
Chr16:89872126..89872127 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.793-281C>T single nucleotide variant not provided [RCV001550490] Chr16:89799919 [GRCh38]
Chr16:89866327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-202G>T single nucleotide variant not provided [RCV001620470] Chr16:89743140 [GRCh38]
Chr16:89809548 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3348+249A>T single nucleotide variant not provided [RCV001561606] Chr16:89748410 [GRCh38]
Chr16:89814818 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+82C>G single nucleotide variant not provided [RCV002469873] Chr16:89769755 [GRCh38]
Chr16:89836163 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1 copy number loss not provided [RCV002472747] Chr16:89662422..89895938 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.79+223C>T single nucleotide variant not provided [RCV002469932] Chr16:89816314 [GRCh38]
Chr16:89882722 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter) single nucleotide variant Fanconi anemia [RCV001044967] Chr16:89810937 [GRCh38]
Chr16:89877345 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2407G>A (p.Val803Met) single nucleotide variant Fanconi anemia [RCV001065580]|Fanconi anemia complementation group A [RCV001274573] Chr16:89769934 [GRCh38]
Chr16:89836342 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2222+73A>G single nucleotide variant Fanconi anemia [RCV001836443]|not provided [RCV001540677] Chr16:89770491 [GRCh38]
Chr16:89836899 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001113525.2(ZNF276):c.*2078G>A single nucleotide variant not provided [RCV001654559] Chr16:89740324 [GRCh38]
Chr16:89806732 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1826+144dup duplication not provided [RCV001659226] Chr16:89778627..89778628 [GRCh38]
Chr16:89845035..89845036 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2602-84G>A single nucleotide variant not provided [RCV001722903] Chr16:89765150 [GRCh38]
Chr16:89831558 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs) insertion Fanconi anemia complementation group A [RCV001535993] Chr16:89808329..89808330 [GRCh38]
Chr16:89874737..89874738 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3626+274dup duplication not provided [RCV001720961] Chr16:89744677..89744678 [GRCh38]
Chr16:89811085..89811086 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.189+183C>G single nucleotide variant not provided [RCV001639566] Chr16:89815694 [GRCh38]
Chr16:89882102 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2779-239G>C single nucleotide variant not provided [RCV001527995] Chr16:89762261 [GRCh38]
Chr16:89828669 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3513+62C>T single nucleotide variant Fanconi anemia [RCV001827544]|not provided [RCV001597451] Chr16:89746522 [GRCh38]
Chr16:89812930 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.1470+122TTCCCC[2] microsatellite not provided [RCV001608678] Chr16:89784709..89784720 [GRCh38]
Chr16:89851117..89851128 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.596+205_596+207del deletion not provided [RCV001608462] Chr16:89808087..89808089 [GRCh38]
Chr16:89874495..89874497 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3513+57G>A single nucleotide variant not provided [RCV001619584] Chr16:89746527 [GRCh38]
Chr16:89812935 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2853-135A>G single nucleotide variant not provided [RCV001637234] Chr16:89758840 [GRCh38]
Chr16:89825248 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1470+229G>A single nucleotide variant not provided [RCV001619140] Chr16:89784625 [GRCh38]
Chr16:89851033 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1901-205C>T single nucleotide variant not provided [RCV001618995] Chr16:89773589 [GRCh38]
Chr16:89839997 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1900+121G>C single nucleotide variant not provided [RCV001608475] Chr16:89775621 [GRCh38]
Chr16:89842029 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3066+206C>G single nucleotide variant not provided [RCV001619720] Chr16:89751932 [GRCh38]
Chr16:89818340 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1626+163T>C single nucleotide variant not provided [RCV001688777] Chr16:89782696 [GRCh38]
Chr16:89849104 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.876C>G (p.His292Gln) single nucleotide variant Fanconi anemia [RCV001554281] Chr16:89799183 [GRCh38]
Chr16:89865591 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2015-319G>A single nucleotide variant not provided [RCV001635811] Chr16:89772133 [GRCh38]
Chr16:89838541 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2505-236C>A single nucleotide variant not provided [RCV001639540] Chr16:89767473 [GRCh38]
Chr16:89833881 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1007-53C>T single nucleotide variant not provided [RCV001641291] Chr16:89792600 [GRCh38]
Chr16:89859008 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1901-184A>G single nucleotide variant not provided [RCV001662924] Chr16:89773568 [GRCh38]
Chr16:89839976 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.894-293C>T single nucleotide variant not provided [RCV001596163] Chr16:89796311 [GRCh38]
Chr16:89862719 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1470+258T>C single nucleotide variant not provided [RCV001637445] Chr16:89784596 [GRCh38]
Chr16:89851004 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.596+224del deletion not provided [RCV001688401] Chr16:89808070 [GRCh38]
Chr16:89874478 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1359+189A>G single nucleotide variant not provided [RCV001620296] Chr16:89791214 [GRCh38]
Chr16:89857622 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3626+216T>C single nucleotide variant not provided [RCV001719321] Chr16:89744743 [GRCh38]
Chr16:89811151 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1471-230G>A single nucleotide variant not provided [RCV001613463] Chr16:89783332 [GRCh38]
Chr16:89849740 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.709+312C>T single nucleotide variant not provided [RCV001621821] Chr16:89804968 [GRCh38]
Chr16:89871376 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2151+159T>C single nucleotide variant not provided [RCV001621831] Chr16:89771519 [GRCh38]
Chr16:89837927 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1827-151A>C single nucleotide variant not provided [RCV001678021] Chr16:89775966 [GRCh38]
Chr16:89842374 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3514-67T>C single nucleotide variant not provided [RCV001719577] Chr16:89745138 [GRCh38]
Chr16:89811546 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*2477C>A single nucleotide variant not provided [RCV001673730] Chr16:89740723 [GRCh38]
Chr16:89807131 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2981+232A>G single nucleotide variant not provided [RCV001670775] Chr16:89758345 [GRCh38]
Chr16:89824753 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2151+135A>G single nucleotide variant not provided [RCV001674051] Chr16:89771543 [GRCh38]
Chr16:89837951 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.284-67C>G single nucleotide variant not provided [RCV001689225] Chr16:89811138 [GRCh38]
Chr16:89877546 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2316+65C>G single nucleotide variant not provided [RCV001598570] Chr16:89770101 [GRCh38]
Chr16:89836509 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-328_597-327insA insertion not provided [RCV001595193] Chr16:89805719..89805720 [GRCh38]
Chr16:89872127..89872128 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro) single nucleotide variant Fanconi anemia [RCV001070445]|Fanconi anemia complementation group A [RCV002505658] Chr16:89764934 [GRCh38]
Chr16:89831342 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3513+4G>C single nucleotide variant Fanconi anemia [RCV001070923] Chr16:89746580 [GRCh38]
Chr16:89812988 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3863G>T (p.Cys1288Phe) single nucleotide variant Fanconi anemia [RCV001035396] Chr16:89740065 [GRCh38]
Chr16:89806473 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1628C>T (p.Pro543Leu) single nucleotide variant Fanconi anemia [RCV001071451] Chr16:89779956 [GRCh38]
Chr16:89846364 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1220G>A single nucleotide variant Fanconi anemia [RCV003635942]|Fanconi anemia complementation group A [RCV001118444] Chr16:89739466 [GRCh38]
Chr16:89805874 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3179C>G (p.Thr1060Arg) single nucleotide variant Fanconi anemia [RCV001035957]|Inborn genetic diseases [RCV003243401] Chr16:89749790 [GRCh38]
Chr16:89816198 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys) single nucleotide variant Fanconi anemia [RCV001856558]|Fanconi anemia complementation group A [RCV001118623] Chr16:89770568 [GRCh38]
Chr16:89836976 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val) single nucleotide variant Fanconi anemia [RCV001856580]|Fanconi anemia complementation group A [RCV001120469] Chr16:89778822 [GRCh38]
Chr16:89845230 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89748641)_(89765076_?)del deletion Fanconi anemia [RCV001032796] Chr16:89815049..89831484 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala) single nucleotide variant Fanconi anemia [RCV001045487]|Fanconi anemia complementation group A [RCV002481919] Chr16:89792011 [GRCh38]
Chr16:89858419 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*251C>T single nucleotide variant Fanconi anemia complementation group A [RCV001121855] Chr16:89738497 [GRCh38]
Chr16:89804905 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89803249)_(89816625_?)del deletion Fanconi anemia [RCV001031469] Chr16:89869657..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89791393)_(89796028_?)del deletion Fanconi anemia [RCV001032958] Chr16:89857801..89862436 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89764807)_(89773394_?)del deletion Fanconi anemia [RCV001031717] Chr16:89831215..89839802 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89761939)_(89762032_?)del deletion Fanconi anemia [RCV001033285] Chr16:89828347..89828440 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*217A>T single nucleotide variant Fanconi anemia complementation group A [RCV001121853] Chr16:89738463 [GRCh38]
Chr16:89804871 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.545T>C (p.Val182Ala) single nucleotide variant Fanconi anemia [RCV001070070] Chr16:89808345 [GRCh38]
Chr16:89874753 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu) single nucleotide variant Fanconi anemia [RCV001866103]|Fanconi anemia complementation group A [RCV001580702] Chr16:89740823 [GRCh38]
Chr16:89807231 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3514-340G>C single nucleotide variant not provided [RCV001648821] Chr16:89745411 [GRCh38]
Chr16:89811819 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe) single nucleotide variant Fanconi anemia complementation group A [RCV001119965] Chr16:89740069 [GRCh38]
Chr16:89806477 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) single nucleotide variant Fanconi anemia [RCV001428668]|Fanconi anemia complementation group A [RCV001119966] Chr16:89740085 [GRCh38]
Chr16:89806493 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.137C>T (p.Ser46Leu) single nucleotide variant Fanconi anemia [RCV001068775] Chr16:89815929 [GRCh38]
Chr16:89882337 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89798246)_(89799648_?)del deletion Fanconi anemia [RCV001032865] Chr16:89864654..89866056 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3626+283dup duplication not provided [RCV001669139] Chr16:89744665..89744666 [GRCh38]
Chr16:89811073..89811074 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3627-203T>C single nucleotide variant not provided [RCV001671318] Chr16:89743141 [GRCh38]
Chr16:89809549 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*2307T>C single nucleotide variant not provided [RCV001713828] Chr16:89740553 [GRCh38]
Chr16:89806961 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3066+236C>G single nucleotide variant not provided [RCV001707307] Chr16:89751902 [GRCh38]
Chr16:89818310 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1084-181G>C single nucleotide variant not provided [RCV001667811] Chr16:89792249 [GRCh38]
Chr16:89858657 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*2408del deletion not provided [RCV001684523] Chr16:89740637 [GRCh38]
Chr16:89807045 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.37C>G (p.Gln13Glu) single nucleotide variant Fanconi anemia [RCV001543114] Chr16:89816579 [GRCh38]
Chr16:89882987 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3348+249A>C single nucleotide variant not provided [RCV001693239] Chr16:89748410 [GRCh38]
Chr16:89814818 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2144A>T (p.Glu715Val) single nucleotide variant Fanconi anemia [RCV001050063] Chr16:89771685 [GRCh38]
Chr16:89838093 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.284-151C>T single nucleotide variant not provided [RCV001534346] Chr16:89811222 [GRCh38]
Chr16:89877630 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+357A>G single nucleotide variant not provided [RCV001690188] Chr16:89749373 [GRCh38]
Chr16:89815781 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.10:g.89816816C>G single nucleotide variant not provided [RCV001680861] Chr16:89816816 [GRCh38]
Chr16:89883224 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1471-225C>T single nucleotide variant not provided [RCV001694366] Chr16:89783327 [GRCh38]
Chr16:89849735 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3067-202A>C single nucleotide variant not provided [RCV001707456] Chr16:89750104 [GRCh38]
Chr16:89816512 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del) deletion Fanconi anemia [RCV001615350] Chr16:89740838..89740840 [GRCh38]
Chr16:89807246..89807248 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1360-202T>C single nucleotide variant not provided [RCV001649297] Chr16:89785166 [GRCh38]
Chr16:89851574 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1900+151C>A single nucleotide variant not provided [RCV001586825] Chr16:89775591 [GRCh38]
Chr16:89841999 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427-59A>G single nucleotide variant not provided [RCV001693614] Chr16:89810861 [GRCh38]
Chr16:89877269 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*1960T>A single nucleotide variant not provided [RCV001684635] Chr16:89740206 [GRCh38]
Chr16:89806614 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.793-1G>C single nucleotide variant Fanconi anemia [RCV001036122] Chr16:89799639 [GRCh38]
Chr16:89866047 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2152-284A>G single nucleotide variant not provided [RCV001708949] Chr16:89770918 [GRCh38]
Chr16:89837326 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1007-299A>T single nucleotide variant not provided [RCV001545469] Chr16:89792846 [GRCh38]
Chr16:89859254 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+84T>C single nucleotide variant not provided [RCV001588107] Chr16:89814436 [GRCh38]
Chr16:89880844 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-156C>T single nucleotide variant not provided [RCV001648533] Chr16:89765222 [GRCh38]
Chr16:89831630 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.10:g.(?_89784844)_(89784974_?)del deletion Fanconi anemia [RCV001033952] Chr16:89851252..89851382 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh37/hg19 16q24.3(chr16:89620873-89881041) copy number loss Fanconi anemia complementation group A [RCV001535965] Chr16:89620873..89881041 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1826+173del deletion not provided [RCV001681436] Chr16:89778628 [GRCh38]
Chr16:89845036 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1827-256A>G single nucleotide variant not provided [RCV001693753] Chr16:89776071 [GRCh38]
Chr16:89842479 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4:c.284_1627del deletion Fanconi anemia [RCV001615353]   pathogenic
NM_000135.4:c.894_2015del deletion Fanconi anemia [RCV001615356]   pathogenic
NM_032451.2(SPIRE2):c.245-5527C>G single nucleotide variant Fanconi anemia [RCV001615363] Chr16:89839795 [GRCh38]
Chr16:89906203 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3239+2T>G single nucleotide variant Fanconi anemia [RCV001615364] Chr16:89749728 [GRCh38]
Chr16:89816136 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1202del (p.Pro401fs) deletion Fanconi anemia [RCV001070425] Chr16:89791950 [GRCh38]
Chr16:89858358 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1471-73G>A single nucleotide variant Fanconi anemia complementation group A [RCV001537717]|not provided [RCV001685452] Chr16:89783175 [GRCh38]
Chr16:89849583 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1471-119A>T single nucleotide variant Fanconi anemia complementation group A [RCV001537718]|not provided [RCV001676035] Chr16:89783221 [GRCh38]
Chr16:89849629 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1226-80T>C single nucleotide variant Fanconi anemia complementation group A [RCV001537720]|not provided [RCV001673146] Chr16:89791616 [GRCh38]
Chr16:89858024 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1007-148T>C single nucleotide variant not provided [RCV001539220] Chr16:89792695 [GRCh38]
Chr16:89859103 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+216C>T single nucleotide variant not provided [RCV001667652] Chr16:89808078 [GRCh38]
Chr16:89874486 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.10:g.89816819C>T single nucleotide variant not provided [RCV001574253] Chr16:89816819 [GRCh38]
Chr16:89883227 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4:c.1626_2602del deletion Fanconi anemia [RCV001615360]   pathogenic
NM_000135.4(FANCA):c.2368del (p.His790fs) deletion Fanconi anemia [RCV001615367] Chr16:89769973 [GRCh38]
Chr16:89836381 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89808284)_(89816625_?)del deletion Fanconi anemia [RCV001031708] Chr16:89874692..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3067-57A>C single nucleotide variant not provided [RCV001685574] Chr16:89749959 [GRCh38]
Chr16:89816367 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1405G>T (p.Ala469Ser) single nucleotide variant Fanconi anemia [RCV001232970] Chr16:89784919 [GRCh38]
Chr16:89851327 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1006+4G>C single nucleotide variant Fanconi anemia [RCV001246541]|not provided [RCV003478754] Chr16:89795902 [GRCh38]
Chr16:89862310 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.3215A>G (p.Gln1072Arg) single nucleotide variant FANCA-related condition [RCV003898244]|Fanconi anemia [RCV001248673] Chr16:89749754 [GRCh38]
Chr16:89816162 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1702G>C (p.Val568Leu) single nucleotide variant Fanconi anemia [RCV001041570] Chr16:89779882 [GRCh38]
Chr16:89846290 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3513+1G>A single nucleotide variant Fanconi anemia [RCV001215793]|Fanconi anemia complementation group A [RCV003462732] Chr16:89746583 [GRCh38]
Chr16:89812991 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln) single nucleotide variant Fanconi anemia [RCV001247268] Chr16:89761989 [GRCh38]
Chr16:89828397 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3412C>T (p.Leu1138Phe) single nucleotide variant Fanconi anemia [RCV001207488] Chr16:89746685 [GRCh38]
Chr16:89813093 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu) single nucleotide variant Fanconi anemia [RCV001235766]|Fanconi anemia complementation group A [RCV001760248]|not provided [RCV003238327] Chr16:89811017 [GRCh38]
Chr16:89877425 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2995G>C (p.Asp999His) single nucleotide variant Fanconi anemia [RCV001217311] Chr16:89752209 [GRCh38]
Chr16:89818617 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2611C>G (p.Leu871Val) single nucleotide variant Fanconi anemia [RCV001208381] Chr16:89765057 [GRCh38]
Chr16:89831465 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.564A>G (p.Gln188=) single nucleotide variant Fanconi anemia [RCV001056178] Chr16:89808326 [GRCh38]
Chr16:89874734 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.10:g.(?_89752128)_(89808377_?)del deletion Fanconi anemia [RCV001032776] Chr16:89818536..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1417del (p.Leu473fs) deletion Fanconi anemia [RCV001235813] Chr16:89784907 [GRCh38]
Chr16:89851315 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter) single nucleotide variant Fanconi anemia [RCV001071452] Chr16:89784891 [GRCh38]
Chr16:89851299 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly) single nucleotide variant Fanconi anemia complementation group A [RCV001120050] Chr16:89749779 [GRCh38]
Chr16:89816187 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val) single nucleotide variant Fanconi anemia [RCV001035930]|Fanconi anemia complementation group A [RCV001276508]|not provided [RCV003478663] Chr16:89749794 [GRCh38]
Chr16:89816202 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala) single nucleotide variant Fanconi anemia [RCV001060658] Chr16:89799208 [GRCh38]
Chr16:89865616 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp) single nucleotide variant Fanconi anemia [RCV001060791] Chr16:89739145 [GRCh38]
Chr16:89805553 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2880T>A (p.His960Gln) single nucleotide variant Fanconi anemia complementation group A [RCV001120357] Chr16:89758678 [GRCh38]
Chr16:89825086 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1574+24C>G single nucleotide variant Fanconi anemia complementation group A [RCV001118332] Chr16:89737929 [GRCh38]
Chr16:89804337 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001118443] Chr16:89739284 [GRCh38]
Chr16:89805692 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) single nucleotide variant Fanconi anemia [RCV001050638]|Fanconi anemia complementation group A [RCV001331009]|not provided [RCV002479313] Chr16:89810792 [GRCh38]
Chr16:89877200 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1298T>C (p.Val433Ala) single nucleotide variant FANCA-related condition [RCV003413858]|Fanconi anemia [RCV001052984] Chr16:89791464 [GRCh38]
Chr16:89857872 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3650C>G (p.Ser1217Cys) single nucleotide variant Fanconi anemia [RCV001061224] Chr16:89742915 [GRCh38]
Chr16:89809323 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1574+26C>A single nucleotide variant Fanconi anemia complementation group A [RCV001118333] Chr16:89737931 [GRCh38]
Chr16:89804339 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2152-13T>C single nucleotide variant Fanconi anemia [RCV002069921]|Fanconi anemia complementation group A [RCV001118624] Chr16:89770647 [GRCh38]
Chr16:89837055 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3626+1G>C single nucleotide variant Fanconi anemia [RCV001057714] Chr16:89744958 [GRCh38]
Chr16:89811366 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala) single nucleotide variant FANCA-related condition [RCV003405431]|Fanconi anemia [RCV001237015] Chr16:89742801 [GRCh38]
Chr16:89809209 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn) single nucleotide variant Fanconi anemia [RCV001036974]|not provided [RCV002280148] Chr16:89782863 [GRCh38]
Chr16:89849271 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu) single nucleotide variant Fanconi anemia [RCV001051272]|Fanconi anemia complementation group A [RCV002481962] Chr16:89792065 [GRCh38]
Chr16:89858473 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1716-3C>T single nucleotide variant Fanconi anemia [RCV001058050]|Fanconi anemia complementation group A [RCV001274141] Chr16:89779006 [GRCh38]
Chr16:89845414 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.372C>G (p.Ile124Met) single nucleotide variant Fanconi anemia [RCV001058119] Chr16:89810983 [GRCh38]
Chr16:89877391 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs) deletion Fanconi anemia [RCV001058235] Chr16:89748740..89748743 [GRCh38]
Chr16:89815148..89815151 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1470+2T>C single nucleotide variant Fanconi anemia [RCV001215768]|Fanconi anemia complementation group A [RCV002497735] Chr16:89784852 [GRCh38]
Chr16:89851260 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3388A>G (p.Ile1130Val) single nucleotide variant Fanconi anemia [RCV001037454] Chr16:89746851 [GRCh38]
Chr16:89813259 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.982C>G (p.Leu328Val) single nucleotide variant Fanconi anemia [RCV001248243]|Fanconi anemia complementation group A [RCV002499433] Chr16:89795930 [GRCh38]
Chr16:89862338 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89815867)_(89816625_?)del deletion Fanconi anemia [RCV001033363] Chr16:89882275..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser) single nucleotide variant Fanconi anemia [RCV001040315]|Fanconi anemia complementation group A [RCV003153902] Chr16:89767155 [GRCh38]
Chr16:89833563 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser) single nucleotide variant Fanconi anemia [RCV001058611] Chr16:89779884 [GRCh38]
Chr16:89846292 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1084-1G>A single nucleotide variant Fanconi anemia [RCV001232390] Chr16:89792069 [GRCh38]
Chr16:89858477 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3281G>C (p.Ser1094Thr) single nucleotide variant Fanconi anemia [RCV001206988] Chr16:89748726 [GRCh38]
Chr16:89815134 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr) single nucleotide variant Fanconi anemia [RCV001040449]|Fanconi anemia complementation group A [RCV002481880] Chr16:89791417 [GRCh38]
Chr16:89857825 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89758567)_(89808377_?)del deletion Fanconi anemia [RCV001033863] Chr16:89824975..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr) single nucleotide variant Fanconi anemia [RCV001048290]|not provided [RCV002264161] Chr16:89758599 [GRCh38]
Chr16:89825007 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe) single nucleotide variant Fanconi anemia [RCV001059342]|not provided [RCV003478685] Chr16:89805286 [GRCh38]
Chr16:89871694 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro) single nucleotide variant Fanconi anemia [RCV001202367]|not provided [RCV003478730] Chr16:89771731 [GRCh38]
Chr16:89838139 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*246G>A single nucleotide variant Fanconi anemia complementation group A [RCV001121854] Chr16:89738492 [GRCh38]
Chr16:89804900 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly) single nucleotide variant Fanconi anemia [RCV001248279]|Inborn genetic diseases [RCV002570375] Chr16:89773384 [GRCh38]
Chr16:89839792 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter) single nucleotide variant Fanconi anemia [RCV001052431] Chr16:89815975 [GRCh38]
Chr16:89882383 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser) single nucleotide variant Fanconi anemia [RCV001038236] Chr16:89739168 [GRCh38]
Chr16:89805576 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2345T>G (p.Leu782Arg) single nucleotide variant Fanconi anemia [RCV001040940] Chr16:89769996 [GRCh38]
Chr16:89836404 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) single nucleotide variant Fanconi anemia [RCV001246139]|Fanconi anemia complementation group A [RCV001824931]|Premature ovarian failure [RCV001270236]|not provided [RCV001751356] Chr16:89742900 [GRCh38]
Chr16:89809308 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance|not provided
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val) single nucleotide variant Fanconi anemia [RCV001211344] Chr16:89792068 [GRCh38]
Chr16:89858476 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.447dup (p.Glu150fs) duplication Fanconi anemia [RCV001205784] Chr16:89810781..89810782 [GRCh38]
Chr16:89877189..89877190 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2728C>G (p.Leu910Val) single nucleotide variant Fanconi anemia [RCV001063956] Chr16:89764940 [GRCh38]
Chr16:89831348 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4299C>G (p.Ser1433Arg) single nucleotide variant Fanconi anemia [RCV001064093] Chr16:89738670 [GRCh38]
Chr16:89805078 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2651C>G (p.Ser884Cys) single nucleotide variant Fanconi anemia [RCV001053998]|Inborn genetic diseases [RCV002553766]|not provided [RCV003478680] Chr16:89765017 [GRCh38]
Chr16:89831425 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_000135.4(FANCA):c.2786del (p.Tyr929fs) deletion Fanconi anemia [RCV001040068]|not provided [RCV003886469] Chr16:89762015 [GRCh38]
Chr16:89828423 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) duplication Fanconi anemia [RCV001064494]|Fanconi anemia complementation group A [RCV001256624] Chr16:89740009..89740010 [GRCh38]
Chr16:89806417..89806418 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2504+6C>G single nucleotide variant Fanconi anemia [RCV001246492]|Fanconi anemia complementation group A [RCV002499424]|not provided [RCV003478753] Chr16:89769831 [GRCh38]
Chr16:89836239 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe) single nucleotide variant Fanconi anemia [RCV001051230]|Fanconi anemia complementation group A [RCV002497402] Chr16:89778831 [GRCh38]
Chr16:89845239 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1651G>A (p.Val551Ile) single nucleotide variant Fanconi anemia [RCV001038561] Chr16:89779933 [GRCh38]
Chr16:89846341 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr) single nucleotide variant Fanconi anemia [RCV001202366] Chr16:89773355 [GRCh38]
Chr16:89839763 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.88G>T (p.Val30Phe) single nucleotide variant Fanconi anemia [RCV001037405] Chr16:89815978 [GRCh38]
Chr16:89882386 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn) single nucleotide variant Fanconi anemia [RCV001055866]|Fanconi anemia complementation group A [RCV001274152] Chr16:89791414 [GRCh38]
Chr16:89857822 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=) single nucleotide variant Fanconi anemia [RCV001442079]|Fanconi anemia complementation group A [RCV001115381]|not provided [RCV003478700] Chr16:89745060 [GRCh38]
Chr16:89811468 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) insertion Fanconi anemia [RCV001228384]|Fanconi anemia complementation group A [RCV003462779] Chr16:89815883..89815884 [GRCh38]
Chr16:89882291..89882292 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter) single nucleotide variant Fanconi anemia [RCV001037568] Chr16:89791444 [GRCh38]
Chr16:89857852 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2450T>A (p.Leu817His) single nucleotide variant Fanconi anemia [RCV001248606] Chr16:89769891 [GRCh38]
Chr16:89836299 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs) microsatellite Fanconi anemia [RCV001041985]|Fanconi anemia complementation group A [RCV003461457] Chr16:89740012..89740013 [GRCh38]
Chr16:89806420..89806421 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter) single nucleotide variant Fanconi anemia [RCV001056395] Chr16:89739215 [GRCh38]
Chr16:89805623 [GRCh37]
Chr16:16q24.3		 pathogenic|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.3826A>G (p.Asn1276Asp) single nucleotide variant Fanconi anemia [RCV001042067] Chr16:89740806 [GRCh38]
Chr16:89807214 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu) single nucleotide variant Fanconi anemia [RCV002555946]|not provided [RCV001091060] Chr16:89748747 [GRCh38]
Chr16:89815155 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly) single nucleotide variant Fanconi anemia [RCV001216473]|Fanconi anemia complementation group A [RCV002497738]|not provided [RCV002480713] Chr16:89814543 [GRCh38]
Chr16:89880951 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.493T>A (p.Ser165Thr) single nucleotide variant Fanconi anemia [RCV001229334] Chr16:89810736 [GRCh38]
Chr16:89877144 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89738591)_(89742948_?)del deletion Fanconi anemia [RCV001033662] Chr16:89804999..89809356 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89778791)_(89779967_?)del deletion Fanconi anemia [RCV001033672] Chr16:89845199..89846375 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89799156)_(89799648_?)del deletion Fanconi anemia [RCV001033673] Chr16:89865564..89866056 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) single nucleotide variant Fanconi anemia [RCV001246892]|Fanconi anemia complementation group A [RCV001780186]|not provided [RCV003117864] Chr16:89767187 [GRCh38]
Chr16:89833595 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1827-5T>A single nucleotide variant Fanconi anemia [RCV001048176] Chr16:89775820 [GRCh38]
Chr16:89842228 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) single nucleotide variant FANCA-related condition [RCV003393883]|Fanconi anemia [RCV001205456]|Fanconi anemia complementation group A [RCV001256252] Chr16:89779939 [GRCh38]
Chr16:89846347 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser) single nucleotide variant Fanconi anemia [RCV001057015]|Fanconi anemia complementation group A [RCV001276564]|not provided [RCV001509538] Chr16:89805298 [GRCh38]
Chr16:89871706 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) single nucleotide variant Fanconi anemia [RCV001053106]|Fanconi anemia complementation group A [RCV001120470] Chr16:89778963 [GRCh38]
Chr16:89845371 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter) single nucleotide variant Fanconi anemia [RCV001063647]|Fanconi anemia complementation group A [RCV001256568] Chr16:89792527 [GRCh38]
Chr16:89858935 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1471-10C>G single nucleotide variant Fanconi anemia [RCV002069890]|Fanconi anemia complementation group A [RCV001116988] Chr16:89783112 [GRCh38]
Chr16:89849520 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.283+1del deletion Fanconi anemia complementation group A [RCV001256220] Chr16:89814519 [GRCh38]
Chr16:89880927 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.732G>C (p.Leu244Phe) single nucleotide variant Fanconi anemia complementation group A [RCV001256227] Chr16:89803319 [GRCh38]
Chr16:89869727 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.784del (p.Met262fs) deletion Fanconi anemia complementation group A [RCV001256228] Chr16:89803267 [GRCh38]
Chr16:89869675 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg) single nucleotide variant Fanconi anemia complementation group A [RCV001256244] Chr16:89791932 [GRCh38]
Chr16:89858340 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89740867_89742799)_(89779958_89782858)del deletion Fanconi anemia complementation group A [RCV001256251] Chr16:89809207..89846366 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3398del (p.His1133fs) deletion Fanconi anemia [RCV002570432]|Fanconi anemia complementation group A [RCV001256289] Chr16:89746841 [GRCh38]
Chr16:89813249 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg) single nucleotide variant Fanconi anemia complementation group A [RCV001256292] Chr16:89746673 [GRCh38]
Chr16:89813081 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3560dup (p.His1188fs) duplication Fanconi anemia complementation group A [RCV001256298] Chr16:89745024..89745025 [GRCh38]
Chr16:89811432..89811433 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1471-738_1627-883del deletion Fanconi anemia complementation group A [RCV001256470] Chr16:89780840..89783840 [GRCh38]
Chr16:89847248..89850248 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2015-1G>T single nucleotide variant Fanconi anemia [RCV001879792]|Fanconi anemia complementation group A [RCV001256483] Chr16:89771815 [GRCh38]
Chr16:89838223 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.10:g.(89762023_89764889)_(89765067_89767140)del deletion Fanconi anemia complementation group A [RCV001256495] Chr16:89831297..89831475 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3066+1G>A single nucleotide variant Fanconi anemia [RCV001377117]|Fanconi anemia complementation group A [RCV001256505] Chr16:89752137 [GRCh38]
Chr16:89818545 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256508] Chr16:89749839 [GRCh38]
Chr16:89816247 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer) duplication Fanconi anemia complementation group A [RCV001256512] Chr16:89749783..89749784 [GRCh38]
Chr16:89816191..89816192 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3239+82T>G single nucleotide variant Fanconi anemia complementation group A [RCV001256515] Chr16:89749648 [GRCh38]
Chr16:89816056 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89737551)_(89740100_89740803)del deletion Fanconi anemia complementation group A [RCV001256527] Chr16:89803959..89806508 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa) deletion Fanconi anemia [RCV003635951]|Fanconi anemia complementation group A [RCV001256528] Chr16:89738564..89738701 [GRCh38]
Chr16:89804972..89805109 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.44_69del (p.Pro15fs) deletion Fanconi anemia [RCV003635952]|Fanconi anemia complementation group A [RCV001256532] Chr16:89816547..89816572 [GRCh38]
Chr16:89882955..89882980 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.50del (p.Gly17fs) deletion Fanconi anemia [RCV001879796]|Fanconi anemia complementation group A [RCV001256533] Chr16:89816566 [GRCh38]
Chr16:89882974 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.88del (p.Val30fs) deletion Fanconi anemia complementation group A [RCV001256537] Chr16:89815978 [GRCh38]
Chr16:89882386 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.597-2A>G single nucleotide variant Fanconi anemia complementation group A [RCV001256545] Chr16:89805394 [GRCh38]
Chr16:89871802 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89792548_89795905)_(89805393_89808293)del deletion Fanconi anemia complementation group A [RCV001256548] Chr16:89862313..89871801 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89784965_89791402)_(89805393_89808293)del deletion Fanconi anemia complementation group A [RCV001256549] Chr16:89857810..89871801 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89779958_89782858)_(89805393_89808293)del deletion Fanconi anemia complementation group A [RCV001256550] Chr16:89849266..89871801 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89775816_89778800)_(89805393_89808293)del deletion Fanconi anemia complementation group A [RCV001256551] Chr16:89845208..89871801 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89758706_89761948)_(89805393_89808293)del deletion Fanconi anemia complementation group A [RCV001256552] Chr16:89828356..89871801 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256613] Chr16:89748678 [GRCh38]
Chr16:89815086 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr) single nucleotide variant Fanconi anemia complementation group A [RCV001256619] Chr16:89746889 [GRCh38]
Chr16:89813297 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89792069_89792470)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256323] Chr16:89858878..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89784965_89791402)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256324] Chr16:89857810..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.2(FANCA):c.284del deletion Fanconi anemia complementation group A [RCV001256329] Chr16:89811071 [GRCh38]
Chr16:89877479 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) duplication Fanconi anemia [RCV001806088]|Fanconi anemia complementation group A [RCV001256366] Chr16:89784864..89784865 [GRCh38]
Chr16:89851272..89851273 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.10:g.(89767238_89769836)_(89775816_89778800)del deletion Fanconi anemia complementation group A [RCV001256373] Chr16:89836244..89842224 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89762023_89764889)_(89773385_89775741)del deletion Fanconi anemia complementation group A [RCV001256378] Chr16:89831297..89839793 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg) single nucleotide variant Fanconi anemia complementation group A [RCV001256386] Chr16:89767229 [GRCh38]
Chr16:89833637 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter) single nucleotide variant Fanconi anemia [RCV001844280]|Fanconi anemia complementation group A [RCV001256416] Chr16:89739170 [GRCh38]
Chr16:89805578 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.427-2A>G single nucleotide variant Fanconi anemia [RCV001879791]|Fanconi anemia complementation group A [RCV001256440] Chr16:89810804 [GRCh38]
Chr16:89877212 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.10:g.(89784965_89791402)_(89808368_89810706)del deletion Fanconi anemia complementation group A [RCV001256449] Chr16:89857810..89874776 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.851dup (p.Val285fs) duplication Fanconi anemia complementation group A [RCV001256454] Chr16:89799207..89799208 [GRCh38]
Chr16:89865615..89865616 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.894-1137_1359+1837del deletion Fanconi anemia complementation group A [RCV001256458] Chr16:89789566..89797155 [GRCh38]
Chr16:89855974..89863563 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89779958_89782858)_(89796019_89799165)del deletion Fanconi anemia complementation group A [RCV001256462] Chr16:89849266..89862427 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89773385_89775741)_(89796019_89799165)del deletion Fanconi anemia complementation group A [RCV001256464] Chr16:89842149..89862427 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*1314C>T single nucleotide variant Fanconi anemia [RCV001471055]|Fanconi anemia complementation group A [RCV001255871] Chr16:89739560 [GRCh38]
Chr16:89805968 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del deletion Fanconi anemia complementation group A [RCV001256214] Chr16:89874701..89881022 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89737551)_(89814614_89815876)del deletion Fanconi anemia complementation group A [RCV001256215] Chr16:89803959..89881022 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89792548_89795905)_(89803342_89805279)del deletion Fanconi anemia complementation group A [RCV001256225] Chr16:89862313..89869750 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs) deletion Fanconi anemia complementation group A [RCV001256253] Chr16:89779895..89779901 [GRCh38]
Chr16:89846303..89846309 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1738_1742delinsCCGCCT (p.Val580fs) indel Fanconi anemia complementation group A [RCV001256259] Chr16:89778977..89778981 [GRCh38]
Chr16:89845385..89845389 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3513G>A (p.Leu1171=) single nucleotide variant Fanconi anemia complementation group A [RCV001256295] Chr16:89746584 [GRCh38]
Chr16:89812992 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly) single nucleotide variant Fanconi anemia complementation group A [RCV001256299] Chr16:89739479 [GRCh38]
Chr16:89805887 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4010_4010+18del deletion Fanconi anemia complementation group A [RCV001256301] Chr16:89739460..89739478 [GRCh38]
Chr16:89805868..89805886 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89805279_89805393)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256320] Chr16:89871801..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3973G>C (p.Asp1325His) single nucleotide variant Fanconi anemia complementation group A [RCV001256629] Chr16:89739515 [GRCh38]
Chr16:89805923 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.89645037_89810099del deletion Fanconi anemia complementation group A [RCV001256631] Chr16:89645037..89810099 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89773385_89775741)_(89799639_89803258)del deletion Fanconi anemia complementation group A [RCV001256344] Chr16:89842149..89866047 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.826+4del deletion Fanconi anemia complementation group A [RCV001256349] Chr16:89799601 [GRCh38]
Chr16:89866009 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89758706_89761948)_(89775816_89778800)del deletion Fanconi anemia complementation group A [RCV001256375] Chr16:89828356..89842224 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89737551)_(89758706_89761948)del deletion Fanconi anemia complementation group A [RCV001256390] Chr16:89803959..89825114 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256392] Chr16:89758692 [GRCh38]
Chr16:89825100 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3639del (p.Glu1214fs) deletion Fanconi anemia [RCV002568709]|Fanconi anemia complementation group A [RCV001256411] Chr16:89742926 [GRCh38]
Chr16:89809334 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.427-8_427-5del deletion Fanconi anemia complementation group A [RCV001256439] Chr16:89810807..89810810 [GRCh38]
Chr16:89877215..89877218 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89808368_89810706)_(89810803_89810928)del deletion Fanconi anemia complementation group A [RCV001256441] Chr16:89877114..89877211 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.891_893+1del deletion Fanconi anemia, complementation group A [RCV001256455] Chr16:89799165..89799168 [GRCh38]
Chr16:89865573..89865576 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89775816_89778800)_(89796019_89799165)del deletion Fanconi anemia complementation group A [RCV001256463] Chr16:89845208..89862427 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) single nucleotide variant Fanconi anemia [RCV003523088]|Fanconi anemia complementation group A [RCV001256487] Chr16:89771808 [GRCh38]
Chr16:89838216 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.10:g.(?_89737551)_(89765067_89767140)del deletion Fanconi anemia complementation group A [RCV001256499] Chr16:89803959..89831475 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter) single nucleotide variant Fanconi anemia [RCV002570437]|Fanconi anemia complementation group A [RCV001256507] Chr16:89749878 [GRCh38]
Chr16:89816286 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu) single nucleotide variant Fanconi anemia complementation group A [RCV001256514] Chr16:89749730 [GRCh38]
Chr16:89816138 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3765+1G>T single nucleotide variant Fanconi anemia complementation group A [RCV001256518] Chr16:89742799 [GRCh38]
Chr16:89809207 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89740100_89740803)_(89740867_89742799)del deletion Fanconi anemia complementation group A [RCV001256520] Chr16:89807211..89807275 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89737551)_(89740867_89742799)del deletion Fanconi anemia complementation group A [RCV001256521] Chr16:89803959..89807275 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89808368_89810706)_(89815987_89816536)del deletion Fanconi anemia complementation group A [RCV001256535] Chr16:89877114..89882395 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89737551)_(89815987_89816536)del deletion Fanconi anemia complementation group A [RCV001256536] Chr16:89803959..89882395 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.173dup (p.Asn58fs) duplication Fanconi anemia complementation group A [RCV001256541] Chr16:89815892..89815893 [GRCh38]
Chr16:89882300..89882301 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(89816311_89818545)_(89871801_89874701)del deletion Fanconi anemia complementation group A [RCV001256553] Chr16:89818545..89871801 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1566G>A (p.Lys522=) single nucleotide variant Fanconi anemia complementation group A [RCV001256574] Chr16:89783007 [GRCh38]
Chr16:89849415 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys) single nucleotide variant Fanconi anemia complementation group A [RCV001256592] Chr16:89770258 [GRCh38]
Chr16:89836666 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2778+1G>T single nucleotide variant Fanconi anemia complementation group A [RCV001256601] Chr16:89764889 [GRCh38]
Chr16:89831297 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.2(FANCA):c.2779_2852del deletion Fanconi anemia complementation group A [RCV001256604] Chr16:89761949..89762022 [GRCh38]
Chr16:89828357..89828430 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89752223_89758576)_(89762023_89764889)del deletion Fanconi anemia complementation group A [RCV001256605] Chr16:89824984..89828431 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.89752141_89762025del deletion Fanconi anemia complementation group A [RCV001256606] Chr16:89752138..89762022 [GRCh38]
Chr16:89818546..89828430 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.89748659_89762022del deletion Fanconi anemia complementation group A [RCV001256607] Chr16:89815067..89828430 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89742939_89744958)_(89748768_89749729)del deletion Fanconi anemia complementation group A [RCV001256609] Chr16:89811366..89815176 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile) single nucleotide variant Fanconi anemia complementation group A [RCV001256615] Chr16:89748669 [GRCh38]
Chr16:89815077 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3 copy number gain not provided [RCV001259286] Chr16:89499489..90125146 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.190-1G>C single nucleotide variant Fanconi anemia complementation group A [RCV001256212] Chr16:89814614 [GRCh38]
Chr16:89881022 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del deletion Fanconi anemia complementation group A [RCV001256213] Chr16:89880927..89881022 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256219] Chr16:89814528 [GRCh38]
Chr16:89880936 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.710-10G>A single nucleotide variant Fanconi anemia complementation group A [RCV001256222] Chr16:89803351 [GRCh38]
Chr16:89869759 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NC_000016.10:g.(89765067_89767140)_(89803342_89805279)del deletion Fanconi anemia complementation group A [RCV001256226] Chr16:89833548..89869750 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4082A>C (p.Tyr1361Ser) single nucleotide variant not provided [RCV001256310] Chr16:89739218 [GRCh38]
Chr16:89805626 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.2(FANCA):c.(?_-42)_523-663del deletion Fanconi anemia complementation group A [RCV001256315] Chr16:89809030..89816657 [GRCh38]
Chr16:89875438..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2808G>C (p.Glu936Asp) single nucleotide variant not provided [RCV001256278] Chr16:89761993 [GRCh38]
Chr16:89828401 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys) single nucleotide variant Fanconi anemia complementation group A [RCV001256276] Chr16:89761995 [GRCh38]
Chr16:89828403 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2348G>T (p.Gly783Val) single nucleotide variant Fanconi anemia complementation group A [RCV001256269] Chr16:89769993 [GRCh38]
Chr16:89836401 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89803342_89805279)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256321] Chr16:89871687..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del deletion Fanconi anemia complementation group A [RCV001256334] Chr16:89828356..89877480 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del deletion Fanconi anemia complementation group A [RCV001256335] Chr16:89805885..89877480 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89799233_89799604)_(89799639_89803258)del deletion Fanconi anemia complementation group A [RCV001256341] Chr16:89866012..89866047 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89792069_89792470)_(89799233_89799604)del deletion Fanconi anemia complementation group A [RCV001256352] Chr16:89858878..89865641 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89762023_89764889)_(89784965_89791402)del deletion Fanconi anemia complementation group A [RCV001256362] Chr16:89831297..89851373 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89737551)_(89784965_89791402)del deletion Fanconi anemia complementation group A [RCV001256364] Chr16:89803959..89851373 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89752223_89758576)_(89775816_89778800)del deletion Fanconi anemia complementation group A [RCV001256376] Chr16:89824984..89842224 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn) single nucleotide variant FANCA-related condition [RCV003399022]|Fanconi anemia [RCV003770302]|Fanconi anemia complementation group A [RCV001256388] Chr16:89767141 [GRCh38]
Chr16:89833549 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3021_3027del (p.Phe1008fs) deletion Fanconi anemia complementation group A [RCV001256402] Chr16:89752177..89752183 [GRCh38]
Chr16:89818585..89818591 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89737551)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256435] Chr16:89803959..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89782919_89783006)_(89783103_89784853)del deletion Fanconi anemia complementation group A [RCV001256475] Chr16:89849414..89849511 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) single nucleotide variant FANCA-related condition [RCV003405458]|Fanconi anemia [RCV001879795]|Fanconi anemia complementation group A [RCV001256511] Chr16:89749805 [GRCh38]
Chr16:89816213 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del) deletion Fanconi anemia complementation group A [RCV001256522] Chr16:89740856..89740858 [GRCh38]
Chr16:89807264..89807266 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu) single nucleotide variant Fanconi anemia complementation group A [RCV001256523] Chr16:89740846 [GRCh38]
Chr16:89807254 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*105C>T single nucleotide variant Fanconi anemia complementation group A [RCV001256531] Chr16:89738351 [GRCh38]
Chr16:89804759 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89803342_89805279)_(89805393_89808293)del deletion Fanconi anemia complementation group A [RCV001256546] Chr16:89871687..89871801 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg) single nucleotide variant Fanconi anemia complementation group A [RCV001256569] Chr16:89792481 [GRCh38]
Chr16:89858889 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89762023_89764889)_(89770635_89771677)del deletion Fanconi anemia complementation group A [RCV001256586] Chr16:89831297..89837043 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89746891_89748658)_(89770635_89771677)del deletion Fanconi anemia complementation group A [RCV001256587] Chr16:89815066..89837043 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3348+5G>A single nucleotide variant Fanconi anemia complementation group A [RCV001256617] Chr16:89748654 [GRCh38]
Chr16:89815062 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3920del (p.Gln1307fs) deletion Fanconi anemia [RCV001390093]|Fanconi anemia complementation group A [RCV001256625] Chr16:89740008 [GRCh38]
Chr16:89806416 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3934+1_3934+18del deletion Fanconi anemia complementation group A [RCV001256628] Chr16:89739976..89739993 [GRCh38]
Chr16:89806384..89806401 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.89844985_89869211del deletion Fanconi anemia complementation group A [RCV001256231] Chr16:89844985..89869211 [GRCh37]
Chr16:88372488..88396714 [NCBI36]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2504+5G>T single nucleotide variant Fanconi anemia complementation group A [RCV001255876] Chr16:89769832 [GRCh38]
Chr16:89836240 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89770025_89770165)_(89792069_89792470)del deletion Fanconi anemia complementation group A [RCV001256237] Chr16:89836573..89858477 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89770025_89770165)_(89779958_89782858)del deletion Fanconi anemia complementation group A [RCV001256249] Chr16:89836573..89846366 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu) single nucleotide variant Fanconi anemia complementation group A [RCV001256262] Chr16:89770200 [GRCh38]
Chr16:89836608 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2316+1_2316+3del deletion Fanconi anemia [RCV001879788]|Fanconi anemia complementation group A [RCV001256265] Chr16:89770163..89770165 [GRCh38]
Chr16:89836571..89836573 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.3408+1G>A single nucleotide variant Fanconi anemia complementation group A [RCV001256291] Chr16:89746830 [GRCh38]
Chr16:89813238 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.89807755_89816658del deletion Fanconi anemia complementation group A [RCV001256317] Chr16:89807753..89816656 [GRCh38]
Chr16:89874161..89883064 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg) single nucleotide variant Fanconi anemia complementation group A [RCV001256275] Chr16:89762007 [GRCh38]
Chr16:89828415 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256271] Chr16:89769979 [GRCh38]
Chr16:89836387 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89784965_89791402)_(89799639_89803258)del deletion Fanconi anemia complementation group A [RCV001256342] Chr16:89857810..89866047 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(89815176_89816137)_(89866047_89869666)del deletion Fanconi anemia complementation group A [RCV001256345] Chr16:89816137..89866047 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89737551)_(89799639_89803258)del deletion Fanconi anemia complementation group A [RCV001256346] Chr16:89803959..89866047 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89783103_89784853)_(89784965_89791402)del deletion Fanconi anemia complementation group A [RCV001256357] Chr16:89851261..89851373 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89758706_89761948)_(89784965_89791402)del deletion Fanconi anemia complementation group A [RCV001256363] Chr16:89828356..89851373 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89771815_89773270)_(89778851_89778942)del deletion Fanconi anemia complementation group A [RCV001256367] Chr16:89839678..89845259 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2872del (p.Ala958fs) deletion Fanconi anemia complementation group A [RCV001256393] Chr16:89758686 [GRCh38]
Chr16:89825094 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89746891_89748658)_(89752223_89758576)del deletion Fanconi anemia complementation group A [RCV001256397] Chr16:89815066..89818631 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2989A>T (p.Ser997Cys) single nucleotide variant Fanconi anemia complementation group A [RCV001256401] Chr16:89752215 [GRCh38]
Chr16:89818623 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter) single nucleotide variant Fanconi anemia [RCV003523087]|Fanconi anemia complementation group A [RCV001256404] Chr16:89745017 [GRCh38]
Chr16:89811425 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3627-3_3627-2del deletion Fanconi anemia [RCV001879790]|Fanconi anemia complementation group A [RCV001256407] Chr16:89742940..89742941 [GRCh38]
Chr16:89809348..89809349 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256420] Chr16:89738947 [GRCh38]
Chr16:89805355 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs) microsatellite Fanconi anemia [RCV002568710]|Fanconi anemia complementation group A [RCV001256422] Chr16:89738901..89738902 [GRCh38]
Chr16:89805309..89805310 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89740100_89740803)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256434] Chr16:89807211..89883065 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.14G>A (p.Trp5Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256437] Chr16:89816602 [GRCh38]
Chr16:89883010 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89779958_89782858)_(89799233_89799604)del deletion Fanconi anemia complementation group A [RCV001256452] Chr16:89849266..89865641 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89784965_89791402)_(89796019_89799165)del deletion Fanconi anemia complementation group A [RCV001256461] Chr16:89857810..89862427 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89771815_89773270)_(89783103_89784853)del deletion Fanconi anemia complementation group A [RCV001256478] Chr16:89839678..89849511 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr) single nucleotide variant Fanconi anemia complementation group A [RCV001256488] Chr16:89771775 [GRCh38]
Chr16:89838183 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2066del (p.Gly689fs) deletion Fanconi anemia complementation group A [RCV001256490] Chr16:89771763 [GRCh38]
Chr16:89838171 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2121del (p.Asn707fs) deletion Fanconi anemia complementation group A [RCV001256491] Chr16:89771708 [GRCh38]
Chr16:89838116 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2602-2A>G single nucleotide variant Fanconi anemia complementation group A [RCV001256492] Chr16:89765068 [GRCh38]
Chr16:89831476 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2602-2A>C single nucleotide variant Fanconi anemia [RCV002570436]|Fanconi anemia complementation group A [RCV001256493] Chr16:89765068 [GRCh38]
Chr16:89831476 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2604_2609del microsatellite Fanconi anemia [RCV001879793]|Fanconi anemia complementation group A [RCV001256500] Chr16:89765059..89765064 [GRCh38]
Chr16:89831467..89831472 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.3067-1G>A single nucleotide variant Fanconi anemia complementation group A [RCV001256506] Chr16:89749903 [GRCh38]
Chr16:89816311 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256516] Chr16:89742805 [GRCh38]
Chr16:89809213 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr) single nucleotide variant Fanconi anemia complementation group A [RCV001256543]|not provided [RCV003478759] Chr16:89808294 [GRCh38]
Chr16:89874702 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NC_000016.10:g.(89799639_89803258)_(89805393_89808293)del deletion Fanconi anemia complementation group A [RCV001256547] Chr16:89869666..89871801 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1006+2_1006+5del deletion Fanconi anemia complementation group A [RCV001256560] Chr16:89795901..89795904 [GRCh38]
Chr16:89862309..89862312 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.2(FANCA):c.1007-10_2504+209del deletion Fanconi anemia complementation group A [RCV001256563] Chr16:89836036..89858965 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89784965_89791402)_(89792548_89795905)del deletion Fanconi anemia complementation group A [RCV001256565] Chr16:89857810..89858956 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89739290_89739477)_(89783103_89784853)del deletion Fanconi anemia complementation group A [RCV001256570] Chr16:89805885..89849511 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2151+328_2778+1085del deletion Fanconi anemia complementation group A [RCV001256585] Chr16:89763805..89771350 [GRCh38]
Chr16:89830213..89837758 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256589] Chr16:89770597 [GRCh38]
Chr16:89837005 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2222+8C>T single nucleotide variant Fanconi anemia [RCV001879799]|Fanconi anemia complementation group A [RCV001256590] Chr16:89770556 [GRCh38]
Chr16:89836964 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2233dup (p.Trp745fs) duplication Fanconi anemia [RCV001879800]|Fanconi anemia complementation group A [RCV001256593] Chr16:89770248..89770249 [GRCh38]
Chr16:89836656..89836657 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.3878del (p.Glu1293fs) deletion Fanconi anemia [RCV001384450]|Fanconi anemia complementation group A [RCV001256621] Chr16:89740050 [GRCh38]
Chr16:89806458 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr) single nucleotide variant Fanconi anemia [RCV001879776]|Fanconi anemia complementation group A [RCV001267761] Chr16:89775760 [GRCh38]
Chr16:89842168 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) single nucleotide variant Fanconi anemia [RCV001304743]|Fanconi anemia complementation group A [RCV002504460] Chr16:89816597 [GRCh38]
Chr16:89883005 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2853-225T>C single nucleotide variant not provided [RCV001641298] Chr16:89758930 [GRCh38]
Chr16:89825338 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3112C>T (p.Leu1038Phe) single nucleotide variant not provided [RCV002284824] Chr16:89749857 [GRCh38]
Chr16:89816265 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) single nucleotide variant Fanconi anemia [RCV001873582]|Fanconi anemia complementation group A [RCV001255877] Chr16:89815938 [GRCh38]
Chr16:89882346 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.710-2A>G single nucleotide variant Fanconi anemia complementation group A [RCV001256224] Chr16:89803343 [GRCh38]
Chr16:89869751 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89784965_89791402)_(89792069_89792470)del deletion Fanconi anemia complementation group A [RCV001256236] Chr16:89857810..89858477 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1703del (p.Val568fs) deletion Fanconi anemia complementation group A [RCV001256254] Chr16:89779881 [GRCh38]
Chr16:89846289 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1709_1715+4del deletion Fanconi anemia complementation group A [RCV001256255] Chr16:89779865..89779875 [GRCh38]
Chr16:89846273..89846283 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89778851_89778942)_(89779004_89779868)del deletion Fanconi anemia complementation group A [RCV001256258] Chr16:89845350..89845412 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89775816_89778800)_(89778851_89778942)del deletion Fanconi anemia complementation group A [RCV001256261] Chr16:89845208..89845259 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) single nucleotide variant Fanconi anemia [RCV001879787]|Fanconi anemia complementation group A [RCV001256263] Chr16:89770192 [GRCh38]
Chr16:89836600 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn) single nucleotide variant Fanconi anemia complementation group A [RCV001256300] Chr16:89739478 [GRCh38]
Chr16:89805886 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) deletion Fanconi anemia [RCV003523084]|Fanconi anemia complementation group A [RCV001256306] Chr16:89739279..89739283 [GRCh38]
Chr16:89805687..89805691 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89815987_89816536)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256311] Chr16:89882944..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.2(FANCA):c.(?_-42)_523-818del deletion Fanconi anemia complementation group A [RCV001256314] Chr16:89809184..89816656 [GRCh38]
Chr16:89875592..89883064 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val) single nucleotide variant Fanconi anemia complementation group A [RCV001256286] Chr16:89746853 [GRCh38]
Chr16:89813261 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89748768_89749729)_(89758706_89761948)del deletion Fanconi anemia complementation group A [RCV001256285] Chr16:89816137..89825114 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2504+2T>C single nucleotide variant Fanconi anemia complementation group A [RCV001256274] Chr16:89769835 [GRCh38]
Chr16:89836243 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.89871692_89878807del deletion Fanconi anemia, complementation group A [RCV001256327]   pathogenic
NC_000016.10:g.(89799639_89803258)_(89811072_89814519)del deletion Fanconi anemia complementation group A [RCV001256332] Chr16:89869666..89877480 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.827-2A>G single nucleotide variant Fanconi anemia complementation group A [RCV001256350] Chr16:89799234 [GRCh38]
Chr16:89865642 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89771815_89773270)_(89775816_89778800)del deletion Fanconi anemia complementation group A [RCV001256372] Chr16:89839678..89842224 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89762023_89764889)_(89775816_89778800)del deletion Fanconi anemia complementation group A [RCV001256374] Chr16:89831297..89842224 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89758706_89761948)_(89773385_89775741)del deletion Fanconi anemia complementation group A [RCV001256379] Chr16:89828356..89839793 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89742939_89744958)_(89767238_89769836)del deletion Fanconi anemia complementation group A [RCV001256384] Chr16:89811366..89833646 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89737551)_(89767238_89769836)del deletion Fanconi anemia complementation group A [RCV001256385] Chr16:89803959..89833646 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp) single nucleotide variant Fanconi anemia complementation group A [RCV001256387] Chr16:89767215 [GRCh38]
Chr16:89833623 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(?_89737551)_(89752223_89758576)del deletion Fanconi anemia complementation group A [RCV001256400] Chr16:89803959..89818631 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256413] Chr16:89742819 [GRCh38]
Chr16:89809227 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4123_4139del (p.Thr1375fs) deletion Fanconi anemia complementation group A [RCV001256415] Chr16:89739161..89739177 [GRCh38]
Chr16:89805569..89805585 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*474_*481del deletion Fanconi anemia [RCV002570434]|Fanconi anemia complementation group A [RCV001256423] Chr16:89738720..89738727 [GRCh38]
Chr16:89805128..89805135 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NC_000016.10:g.(89752223_89758576)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256429] Chr16:89824984..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.893+1G>T single nucleotide variant Fanconi anemia [RCV003635949]|Fanconi anemia complementation group A [RCV001256456] Chr16:89799165 [GRCh38]
Chr16:89865573 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.893+920C>A single nucleotide variant Fanconi anemia complementation group A [RCV001256457] Chr16:89798246 [GRCh38]
Chr16:89864654 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89746891_89748658)_(89796019_89799165)del deletion Fanconi anemia complementation group A [RCV001256465] Chr16:89815066..89862427 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1470+1G>T single nucleotide variant Fanconi anemia complementation group A [RCV001256468] Chr16:89784853 [GRCh38]
Chr16:89851261 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89775816_89778800)_(89783103_89784853)del deletion Fanconi anemia complementation group A [RCV001256477] Chr16:89845208..89849511 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89758706_89761948)_(89771815_89773270)del deletion Fanconi anemia complementation group A [RCV001256485] Chr16:89828356..89838223 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89752223_89758576)_(89765067_89767140)del deletion Fanconi anemia complementation group A [RCV001256497] Chr16:89824984..89831475 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3766-2A>G single nucleotide variant Fanconi anemia [RCV003635950]|Fanconi anemia complementation group A [RCV001256519] Chr16:89740868 [GRCh38]
Chr16:89807276 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4285_4288dup (p.Pro1430fs) duplication Fanconi anemia complementation group A [RCV001256530] Chr16:89738680..89738681 [GRCh38]
Chr16:89805088..89805089 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter) single nucleotide variant Fanconi anemia [RCV003523089]|Fanconi anemia complementation group A [RCV001256539] Chr16:89815938 [GRCh38]
Chr16:89882346 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter) insertion Fanconi anemia [RCV003635953]|Fanconi anemia complementation group A [RCV001256540] Chr16:89815894..89815895 [GRCh38]
Chr16:89882302..89882303 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.596+548_793-219del deletion Fanconi anemia complementation group A [RCV001256544] Chr16:89799857..89807746 [GRCh38]
Chr16:89866265..89874154 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly) single nucleotide variant Fanconi anemia complementation group A [RCV001256555] Chr16:89805306 [GRCh38]
Chr16:89871714 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.933_936delinsCT (p.Ser312fs) indel Fanconi anemia complementation group A [RCV001256558] Chr16:89795976..89795979 [GRCh38]
Chr16:89862384..89862387 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1007-1del deletion Fanconi anemia complementation group A [RCV001256564] Chr16:89792548 [GRCh38]
Chr16:89858956 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89770635_89771677)_(89792548_89795905)del deletion Fanconi anemia complementation group A [RCV001256566] Chr16:89838085..89858956 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1566+3A>C single nucleotide variant Fanconi anemia complementation group A [RCV001256575] Chr16:89783004 [GRCh38]
Chr16:89849412 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1627-1G>T single nucleotide variant Fanconi anemia complementation group A [RCV001256581] Chr16:89779958 [GRCh38]
Chr16:89846366 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256588] Chr16:89770616 [GRCh38]
Chr16:89837024 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3240-2A>G single nucleotide variant Fanconi anemia complementation group A [RCV001256608] Chr16:89748769 [GRCh38]
Chr16:89815177 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3917_3918del (p.Phe1306fs) deletion Fanconi anemia complementation group A [RCV001256623] Chr16:89740010..89740011 [GRCh38]
Chr16:89806418..89806419 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3934+1G>A single nucleotide variant Fanconi anemia [RCV003635954]|Fanconi anemia complementation group A [RCV001256627] Chr16:89739993 [GRCh38]
Chr16:89806401 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.792G>A (p.Gln264=) single nucleotide variant Fanconi anemia complementation group A [RCV001256230] Chr16:89803259 [GRCh38]
Chr16:89869667 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89791537_89791926)_(89792069_89792470)del deletion Fanconi anemia complementation group A [RCV001256235] Chr16:89858334..89858477 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1147del (p.Glu383fs) deletion Fanconi anemia [RCV003523082]|Fanconi anemia complementation group A [RCV001256240] Chr16:89792005 [GRCh38]
Chr16:89858413 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1164_1165del (p.Arg388fs) microsatellite Fanconi anemia complementation group A [RCV001256242] Chr16:89791987..89791988 [GRCh38]
Chr16:89858395..89858396 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) duplication Fanconi anemia [RCV001879786]|Fanconi anemia complementation group A [RCV001256246] Chr16:89791469..89791470 [GRCh38]
Chr16:89857877..89857878 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NC_000016.10:g.(89758706_89761948)_(89779958_89782858)del deletion Fanconi anemia complementation group A [RCV001256250] Chr16:89828356..89846366 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1777-3_1783del deletion Fanconi anemia [RCV002570431]|Fanconi anemia complementation group A [RCV001256260] Chr16:89778844..89778853 [GRCh38]
Chr16:89845252..89845261 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.10:g.(89746891_89748658)_(89770025_89770165)del deletion Fanconi anemia complementation group A [RCV001256267] Chr16:89815066..89836433 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) single nucleotide variant Fanconi anemia [RCV002570433]|Fanconi anemia complementation group A [RCV001256294] Chr16:89746606 [GRCh38]
Chr16:89813014 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter) single nucleotide variant Fanconi anemia [RCV002568708]|Fanconi anemia complementation group A [RCV001256297] Chr16:89745030 [GRCh38]
Chr16:89811438 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.4010+2T>C single nucleotide variant Fanconi anemia [RCV003523083]|Fanconi anemia complementation group A [RCV002250738]|not provided [RCV001256304] Chr16:89739476 [GRCh38]
Chr16:89805884 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_000135.2(FANCA):c.(?_-42)_523-828del deletion Fanconi anemia complementation group A [RCV001256313] Chr16:89809195..89816657 [GRCh38]
Chr16:89875603..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89808368_89810706)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256316] Chr16:89877114..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89749903_89752137)_(89758706_89761948)del deletion Fanconi anemia complementation group A [RCV001256284] Chr16:89818545..89825114 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2827_2845dup (p.Thr949delinsSerTer) duplication Fanconi anemia complementation group A [RCV001256279] Chr16:89761955..89761956 [GRCh38]
Chr16:89828363..89828364 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256272] Chr16:89769891 [GRCh38]
Chr16:89836299 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89805393_89808293)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256319] Chr16:89874701..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89792548_89795905)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256322] Chr16:89862313..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89767238_89769836)_(89811072_89814519)del deletion Fanconi anemia complementation group A [RCV001256333] Chr16:89836244..89877480 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89779004_89779868)_(89799639_89803258)del deletion Fanconi anemia complementation group A [RCV001256343] Chr16:89846276..89866047 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.820C>T (p.Leu274=) single nucleotide variant Fanconi anemia [RCV003523085]|Fanconi anemia complementation group A [RCV001256348] Chr16:89799611 [GRCh38]
Chr16:89866019 [GRCh37]
Chr16:16q24.3		 pathogenic|likely benign
NC_000016.10:g.(89773385_89775741)_(89775816_89778800)del deletion Fanconi anemia complementation group A [RCV001256371] Chr16:89842149..89842224 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89752223_89758576)_(89773385_89775741)del deletion Fanconi anemia complementation group A [RCV001256380] Chr16:89824984..89839793 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4083_4084insG (p.Leu1362fs) insertion Fanconi anemia complementation group A [RCV001256414] Chr16:89739216..89739217 [GRCh38]
Chr16:89805624..89805625 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89749903_89752137)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256431] Chr16:89818545..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89740867_89742799)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256433] Chr16:89809207..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.448G>T (p.Glu150Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256442] Chr16:89810781 [GRCh38]
Chr16:89877189 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.505G>T (p.Glu169Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256445] Chr16:89810724 [GRCh38]
Chr16:89877132 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1470G>A (p.Gln490=) single nucleotide variant Fanconi anemia complementation group A [RCV001256467] Chr16:89784854 [GRCh38]
Chr16:89851262 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) single nucleotide variant Fanconi anemia [RCV002570435]|Fanconi anemia complementation group A [RCV001256482] Chr16:89773280 [GRCh38]
Chr16:89839688 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89746891_89748658)_(89771815_89773270)del deletion Fanconi anemia complementation group A [RCV001256486] Chr16:89815066..89838223 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3043G>A (p.Glu1015Lys) single nucleotide variant Fanconi anemia complementation group A [RCV001256504] Chr16:89752161 [GRCh38]
Chr16:89818569 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3829-1G>C single nucleotide variant Fanconi anemia complementation group A [RCV001256526] Chr16:89740100 [GRCh38]
Chr16:89806508 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.629T>G (p.Leu210Arg) single nucleotide variant Fanconi anemia complementation group A [RCV001256554] Chr16:89805360 [GRCh38]
Chr16:89871768 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.978_979del (p.Gln326fs) deletion Fanconi anemia complementation group A [RCV001256559] Chr16:89795933..89795934 [GRCh38]
Chr16:89862341..89862342 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1508dup (p.Tyr503Ter) duplication Fanconi anemia complementation group A [RCV001256572] Chr16:89783064..89783065 [GRCh38]
Chr16:89849472..89849473 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89779004_89779868)_(89779958_89782858)del deletion Fanconi anemia complementation group A [RCV001256582] Chr16:89846276..89846366 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2151+2_2151+3insG insertion Fanconi anemia complementation group A [RCV001256583] Chr16:89771675..89771676 [GRCh38]
Chr16:89838083..89838084 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter) single nucleotide variant Fanconi anemia [RCV001879801]|Fanconi anemia complementation group A [RCV001256597] Chr16:89764960 [GRCh38]
Chr16:89831368 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256611] Chr16:89748721 [GRCh38]
Chr16:89815129 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) single nucleotide variant Fanconi anemia complementation group A [RCV001256614] Chr16:89748672 [GRCh38]
Chr16:89815080 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3847_3857del (p.Lys1283fs) deletion Fanconi anemia complementation group A [RCV001256620] Chr16:89740071..89740081 [GRCh38]
Chr16:89806479..89806489 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4006T>G (p.Tyr1336Asp) single nucleotide variant not provided [RCV001256630] Chr16:89739482 [GRCh38]
Chr16:89805890 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.89816927C>G single nucleotide variant not provided [RCV001581300] Chr16:89816927 [GRCh38]
Chr16:89883335 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.559G>C (p.Val187Leu) single nucleotide variant Fanconi anemia [RCV001312289] Chr16:89808331 [GRCh38]
Chr16:89874739 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg) single nucleotide variant Fanconi anemia [RCV001859107]|Fanconi anemia complementation group A [RCV001255872] Chr16:89803275 [GRCh38]
Chr16:89869683 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2938G>C (p.Ala980Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001255873] Chr16:89758620 [GRCh38]
Chr16:89825028 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.190-494_597-592del deletion Fanconi anemia complementation group A [RCV001256209] Chr16:89805984..89815107 [GRCh38]
Chr16:89872392..89881515 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.710-142_710-141dup duplication FANCA-related condition [RCV003918804]|Fanconi anemia [RCV001521740]|Fanconi anemia complementation group A [RCV001256221]|not provided [RCV001615142]|not specified [RCV002246236] Chr16:89803481..89803482 [GRCh38]
Chr16:89869889..89869890 [GRCh37]
Chr16:16q24.3		 pathogenic|benign
NM_000135.4(FANCA):c.1124T>G (p.Leu375Trp) single nucleotide variant Fanconi anemia complementation group A [RCV001256239] Chr16:89792028 [GRCh38]
Chr16:89858436 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89773385_89775741)_(89779958_89782858)del deletion Fanconi anemia complementation group A [RCV001256247] Chr16:89842149..89846366 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89770635_89771677)_(89779958_89782858)del deletion Fanconi anemia complementation group A [RCV001256248] Chr16:89838085..89846366 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2316+1G>T single nucleotide variant Fanconi anemia complementation group A [RCV001256266] Chr16:89770165 [GRCh38]
Chr16:89836573 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89742939_89744958)_(89745072_89746583)del deletion Fanconi anemia complementation group A [RCV001256296] Chr16:89811366..89811480 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4010+1G>A single nucleotide variant Fanconi anemia complementation group A [RCV001256302] Chr16:89739477 [GRCh38]
Chr16:89805885 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del) deletion Fanconi anemia complementation group A [RCV001256305] Chr16:89739283..89739285 [GRCh38]
Chr16:89805691..89805693 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256308] Chr16:89739231 [GRCh38]
Chr16:89805639 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89814614_89815876)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256312] Chr16:89882284..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.2(FANCA):c.(?_-42)_597-800del deletion Fanconi anemia complementation group A [RCV001256318] Chr16:89872600..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2351dup (p.Leu784fs) duplication Fanconi anemia complementation group A [RCV001256270] Chr16:89769989..89769990 [GRCh38]
Chr16:89836397..89836398 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.396dup (p.His133fs) duplication Fanconi anemia complementation group A [RCV001256337] Chr16:89810958..89810959 [GRCh38]
Chr16:89877366..89877367 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) single nucleotide variant Fanconi anemia [RCV003635948]|Fanconi anemia complementation group A [RCV001256339] Chr16:89810931 [GRCh38]
Chr16:89877339 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.793-2A>C single nucleotide variant Fanconi anemia complementation group A [RCV001256340] Chr16:89799640 [GRCh38]
Chr16:89866048 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.795_808del (p.Thr266fs) deletion Fanconi anemia complementation group A [RCV001256347] Chr16:89799623..89799636 [GRCh38]
Chr16:89866031..89866044 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.827-1G>T single nucleotide variant Fanconi anemia [RCV003523086]|Fanconi anemia complementation group A [RCV001256351] Chr16:89799233 [GRCh38]
Chr16:89865641 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.10:g.(89791537_89791926)_(89799233_89799604)del deletion Fanconi anemia complementation group A [RCV001256353] Chr16:89858334..89865641 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89779958_89782858)_(89784965_89791402)del deletion Fanconi anemia complementation group A [RCV001256358] Chr16:89849266..89851373 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn) single nucleotide variant Fanconi anemia complementation group A [RCV001256368] Chr16:89778835 [GRCh38]
Chr16:89845243 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2982-192A>G single nucleotide variant Fanconi anemia complementation group A [RCV001256396] Chr16:89752414 [GRCh38]
Chr16:89818822 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del deletion Fanconi anemia complementation group A [RCV001256398] Chr16:89805289..89818631 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(?_89737551)_(89752222_89758576)del deletion Fanconi anemia complementation group A [RCV001256399] Chr16:89803959..89818630 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256406] Chr16:89744974 [GRCh38]
Chr16:89811382 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89773385_89775741)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256426] Chr16:89842149..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89771815_89773270)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256427] Chr16:89839678..89883065 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.2(FANCA):c.(?_-42)_3066+281del deletion Fanconi anemia complementation group A [RCV001256430] Chr16:89818265..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89742939_89744958)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256432] Chr16:89811366..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.487del (p.Arg163fs) deletion Fanconi anemia complementation group A [RCV001256444] Chr16:89810742 [GRCh38]
Chr16:89877150 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.522+507_793-1273del deletion Fanconi anemia complementation group A [RCV001256446] Chr16:89800911..89810200 [GRCh38]
Chr16:89867319..89876608 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89805393_89808293)_(89808368_89810706)del deletion Fanconi anemia complementation group A [RCV001256448] Chr16:89874701..89874776 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89740100_89740803)_(89799233_89799604)del deletion Fanconi anemia complementation group A [RCV001256453] Chr16:89807211..89865641 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.894-1G>A single nucleotide variant Fanconi anemia complementation group A [RCV001256460] Chr16:89796019 [GRCh38]
Chr16:89862427 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89779004_89779868)_(89783103_89784853)del deletion Fanconi anemia complementation group A [RCV001256476] Chr16:89846276..89849511 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89752223_89758576)_(89783103_89784853)del deletion Fanconi anemia complementation group A [RCV001256481] Chr16:89824984..89849511 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2602-1G>A single nucleotide variant Fanconi anemia [RCV001389974]|Fanconi anemia complementation group A [RCV001256494] Chr16:89765067 [GRCh38]
Chr16:89831475 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89758706_89761948)_(89765067_89767140)del deletion Fanconi anemia complementation group A [RCV001256496] Chr16:89828356..89831475 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) single nucleotide variant Fanconi anemia complementation group A [RCV001256501] Chr16:89765036 [GRCh38]
Chr16:89831444 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) single nucleotide variant Fanconi anemia [RCV001879794]|not provided [RCV001256510] Chr16:89749806 [GRCh38]
Chr16:89816214 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.3828+2dup duplication FANCA-related condition [RCV003393923]|Fanconi anemia complementation group A [RCV001256525] Chr16:89740801..89740802 [GRCh38]
Chr16:89807209..89807210 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.66G>A (p.Trp22Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256534] Chr16:89816550 [GRCh38]
Chr16:89882958 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.189+2T>A single nucleotide variant Fanconi anemia [RCV001879797]|Fanconi anemia complementation group A [RCV001256542] Chr16:89815875 [GRCh38]
Chr16:89882283 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NC_000016.10:g.(89749903_89752137)_(89792548_89795905)del deletion Fanconi anemia complementation group A [RCV001256567] Chr16:89818545..89858956 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1567-20A>G single nucleotide variant Fanconi anemia [RCV003399023]|Fanconi anemia complementation group A [RCV001256576] Chr16:89782938 [GRCh38]
Chr16:89849346 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2223-3C>G single nucleotide variant Fanconi anemia complementation group A [RCV001256591] Chr16:89770262 [GRCh38]
Chr16:89836670 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2674del (p.Ser892fs) deletion Fanconi anemia complementation group A [RCV001256595] Chr16:89764994 [GRCh38]
Chr16:89831402 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys) single nucleotide variant Fanconi anemia [RCV001879802]|Fanconi anemia complementation group A [RCV001256616] Chr16:89748668 [GRCh38]
Chr16:89815076 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263705] Chr16:89742812 [GRCh38]
Chr16:89809220 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263706] Chr16:89742925 [GRCh38]
Chr16:89809333 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) single nucleotide variant Fanconi anemia [RCV003635956]|Fanconi anemia complementation group A [RCV001263707] Chr16:89746597 [GRCh38]
Chr16:89813005 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263708] Chr16:89749836 [GRCh38]
Chr16:89816244 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263709] Chr16:89752187 [GRCh38]
Chr16:89818595 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263710] Chr16:89761953 [GRCh38]
Chr16:89828361 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263791] Chr16:89769842 [GRCh38]
Chr16:89836250 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263792] Chr16:89769852 [GRCh38]
Chr16:89836260 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263794] Chr16:89770248 [GRCh38]
Chr16:89836656 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263795] Chr16:89773334 [GRCh38]
Chr16:89839742 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263796] Chr16:89778805 [GRCh38]
Chr16:89845213 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263797] Chr16:89782900 [GRCh38]
Chr16:89849308 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) single nucleotide variant Fanconi anemia [RCV001880068]|Fanconi anemia complementation group A [RCV001263798] Chr16:89784856 [GRCh38]
Chr16:89851264 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001264171] Chr16:89805331 [GRCh38]
Chr16:89871739 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) single nucleotide variant Fanconi anemia [RCV001880078]|Fanconi anemia complementation group A [RCV001264296] Chr16:89815984 [GRCh38]
Chr16:89882392 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys) single nucleotide variant Fanconi anemia [RCV002546619]|Fanconi anemia complementation group A [RCV001333233] Chr16:89782914 [GRCh38]
Chr16:89849322 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001264168] Chr16:89784874 [GRCh38]
Chr16:89851282 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001264169] Chr16:89791990 [GRCh38]
Chr16:89858398 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001264172] Chr16:89810709 [GRCh38]
Chr16:89877117 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001264174] Chr16:89810991 [GRCh38]
Chr16:89877399 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001263793] Chr16:89769869 [GRCh38]
Chr16:89836277 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3409-5T>G single nucleotide variant Fanconi anemia [RCV001313030] Chr16:89746693 [GRCh38]
Chr16:89813101 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001264295] Chr16:89811047 [GRCh38]
Chr16:89877455 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001264170] Chr16:89792484 [GRCh38]
Chr16:89858892 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001264173] Chr16:89810762 [GRCh38]
Chr16:89877170 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001113525.2(ZNF276):c.*1744T>C single nucleotide variant Fanconi anemia [RCV001312974] Chr16:89739990 [GRCh38]
Chr16:89806398 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His) single nucleotide variant Fanconi anemia [RCV001302719] Chr16:89739225 [GRCh38]
Chr16:89805633 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2853-8T>C single nucleotide variant Fanconi anemia complementation group A [RCV001277940] Chr16:89758713 [GRCh38]
Chr16:89825121 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.768T>C (p.Thr256=) single nucleotide variant Fanconi anemia complementation group A [RCV001277948] Chr16:89803283 [GRCh38]
Chr16:89869691 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.443del (p.Leu148fs) deletion Fanconi anemia [RCV003635984]|not provided [RCV002284338] Chr16:89810786 [GRCh38]
Chr16:89877194 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3514-272G>C single nucleotide variant not provided [RCV001539173] Chr16:89745343 [GRCh38]
Chr16:89811751 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2223-114C>T single nucleotide variant Fanconi anemia [RCV001832733]|Fanconi anemia complementation group A [RCV001537684]|not provided [RCV001712984] Chr16:89770373 [GRCh38]
Chr16:89836781 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1715+82T>C single nucleotide variant Fanconi anemia complementation group A [RCV001537688]|not provided [RCV001655828] Chr16:89779787 [GRCh38]
Chr16:89846195 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 copy number gain not provided [RCV001258663] Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3 copy number gain not provided [RCV001258667] Chr16:89156662..90023446 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2504+3G>A single nucleotide variant Fanconi anemia complementation group A [RCV001255875] Chr16:89769834 [GRCh38]
Chr16:89836242 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) microsatellite Fanconi anemia [RCV003523063]|Fanconi anemia complementation group A [RCV001255874] Chr16:89814562..89814563 [GRCh38]
Chr16:89880970..89880971 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.190-146_284-1082del deletion Fanconi anemia complementation group A [RCV001256210] Chr16:89812153..89814759 [GRCh38]
Chr16:89878561..89881167 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.233_236del (p.Ile78fs) deletion Fanconi anemia [RCV001879785]|Fanconi anemia complementation group A [RCV001256216] Chr16:89814567..89814570 [GRCh38]
Chr16:89880975..89880978 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256238] Chr16:89792067 [GRCh38]
Chr16:89858475 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr) single nucleotide variant Fanconi anemia [RCV002570430]|Fanconi anemia complementation group A [RCV001256241] Chr16:89791999 [GRCh38]
Chr16:89858407 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs) deletion Fanconi anemia complementation group A [RCV001256243]|Pituitary stalk interruption syndrome [RCV001257299] Chr16:89791956..89791959 [GRCh38]
Chr16:89858364..89858367 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1226-6_1226-2del deletion Fanconi anemia complementation group A [RCV001256245] Chr16:89791538..89791542 [GRCh38]
Chr16:89857946..89857950 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3396_3399del (p.His1133fs) deletion Fanconi anemia complementation group A [RCV001256287] Chr16:89746840..89746843 [GRCh38]
Chr16:89813248..89813251 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) single nucleotide variant Fanconi anemia [RCV001879789]|Fanconi anemia complementation group A [RCV001256293] Chr16:89746607 [GRCh38]
Chr16:89813015 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.4064_4065dup (p.Val1356fs) duplication Fanconi anemia complementation group A [RCV001256307] Chr16:89739234..89739235 [GRCh38]
Chr16:89805642..89805643 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile) single nucleotide variant Fanconi anemia complementation group A [RCV001256309] Chr16:89739220 [GRCh38]
Chr16:89805628 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2504+1G>A single nucleotide variant Fanconi anemia complementation group A [RCV001256273] Chr16:89769836 [GRCh38]
Chr16:89836244 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2327dup (p.Ser777fs) duplication Fanconi anemia complementation group A [RCV001256268] Chr16:89770013..89770014 [GRCh38]
Chr16:89836421..89836422 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89775816_89778800)_(89816657_?)del deletion Fanconi anemia complementation group A [RCV001256325] Chr16:89845208..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.285_522+1del deletion Fanconi anemia complementation group A [RCV001256330] Chr16:89810706..89811070 [GRCh38]
Chr16:89877114..89877478 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89808368_89810706)_(89811072_89814519)del deletion Fanconi anemia complementation group A [RCV001256331] Chr16:89877114..89877480 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.331_334dup (p.Leu112fs) duplication Fanconi anemia complementation group A [RCV001256336] Chr16:89811020..89811021 [GRCh38]
Chr16:89877428..89877429 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89775816_89778800)_(89784965_89791402)del deletion Fanconi anemia complementation group A [RCV001256359] Chr16:89845208..89851373 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89773385_89775741)_(89784965_89791402)dup duplication Fanconi anemia complementation group A [RCV001256360] Chr16:89842149..89851373 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89770635_89771677)_(89784965_89791402)del deletion Fanconi anemia complementation group A [RCV001256361] Chr16:89838085..89851373 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1430del (p.Leu477fs) deletion Fanconi anemia complementation group A [RCV001256365] Chr16:89784894 [GRCh38]
Chr16:89851302 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2504+134A>G single nucleotide variant Fanconi anemia complementation group A [RCV001256381] Chr16:89769703 [GRCh38]
Chr16:89836111 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89752223_89758576)_(89767238_89769836)del deletion Fanconi anemia complementation group A [RCV001256383] Chr16:89824984..89833646 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256391] Chr16:89758704 [GRCh38]
Chr16:89825112 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3627-1G>A single nucleotide variant Fanconi anemia complementation group A [RCV001256408] Chr16:89742939 [GRCh38]
Chr16:89809347 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_000135.4(FANCA):c.3715_3729del (p.Glu1239_Arg1243del) deletion Fanconi anemia complementation group A [RCV001256412] Chr16:89742836..89742850 [GRCh38]
Chr16:89809244..89809258 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4168-1G>C single nucleotide variant Fanconi anemia complementation group A [RCV001256419] Chr16:89738975 [GRCh38]
Chr16:89805383 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*465G>C single nucleotide variant Fanconi anemia complementation group A [RCV001256424] Chr16:89738711 [GRCh38]
Chr16:89805119 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.89754008_89816657del deletion Fanconi anemia complementation group A [RCV001256428] Chr16:89820416..89883065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.470C>T (p.Ala157Val) single nucleotide variant Fanconi anemia complementation group A [RCV001256443] Chr16:89810759 [GRCh38]
Chr16:89877167 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89775816_89778800)_(89808368_89810706)del deletion Fanconi anemia complementation group A [RCV001256450] Chr16:89845208..89874776 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89773385_89775741)_(89808368_89810706)del deletion Fanconi anemia complementation group A [RCV001256451] Chr16:89842149..89874776 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.894-3C>G single nucleotide variant Fanconi anemia complementation group A [RCV001256459] Chr16:89796021 [GRCh38]
Chr16:89862429 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) single nucleotide variant Fanconi anemia [RCV003485697]|Fanconi anemia complementation group A [RCV001256466] Chr16:89784860 [GRCh38]
Chr16:89851268 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1471-1G>T single nucleotide variant Fanconi anemia complementation group A [RCV003462829]|not provided [RCV001256474] Chr16:89783103 [GRCh38]
Chr16:89849511 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.10:g.(89770635_89771677)_(89783103_89784853)del deletion Fanconi anemia complementation group A [RCV001256479] Chr16:89838085..89849511 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89767238_89769836)_(89783103_89784853)del deletion Fanconi anemia complementation group A [RCV001256480] Chr16:89836244..89849511 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.10:g.(89770635_89771677)_(89771815_89773270)del deletion Fanconi anemia complementation group A [RCV001256484] Chr16:89838085..89838223 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.(89748768_89749729)_(89765067_89767140)del deletion Fanconi anemia complementation group A [RCV001256498] Chr16:89816137..89831475 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2636C>T (p.Ala879Val) single nucleotide variant Fanconi anemia complementation group A [RCV001256502] Chr16:89765032 [GRCh38]
Chr16:89831440 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del) deletion Fanconi anemia complementation group A [RCV001256509] Chr16:89749823..89749828 [GRCh38]
Chr16:89816231..89816236 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3761_3764dup (p.Leu1256fs) duplication Fanconi anemia complementation group A [RCV001256517] Chr16:89742800..89742801 [GRCh38]
Chr16:89809208..89809209 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3828+1G>T single nucleotide variant Fanconi anemia complementation group A [RCV001256524] Chr16:89740803 [GRCh38]
Chr16:89807211 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.709+1G>A single nucleotide variant Fanconi anemia [RCV001879798]|Fanconi anemia complementation group A [RCV001256556] Chr16:89805279 [GRCh38]
Chr16:89871687 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001256573] Chr16:89783038 [GRCh38]
Chr16:89849446 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter) single nucleotide variant Fanconi anemia [RCV002570438]|Fanconi anemia complementation group A [RCV001256596] Chr16:89764990 [GRCh38]
Chr16:89831398 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro) single nucleotide variant Fanconi anemia complementation group A [RCV001256598] Chr16:89764945 [GRCh38]
Chr16:89831353 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2736dup (p.His913fs) duplication Fanconi anemia complementation group A [RCV001256600] Chr16:89764931..89764932 [GRCh38]
Chr16:89831339..89831340 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2778+1G>C single nucleotide variant Fanconi anemia [RCV001389973]|Fanconi anemia complementation group A [RCV001256602] Chr16:89764889 [GRCh38]
Chr16:89831297 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3926_3929del (p.Thr1309fs) deletion Fanconi anemia complementation group A [RCV001256626] Chr16:89739999..89740002 [GRCh38]
Chr16:89806407..89806410 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser) single nucleotide variant Fanconi anemia [RCV001306865] Chr16:89773354 [GRCh38]
Chr16:89839762 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89805009)_(89858965_?)dup duplication Fanconi anemia [RCV001350734] Chr16:89805009..89858965 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1627-5A>G single nucleotide variant Fanconi anemia [RCV001305421] Chr16:89779962 [GRCh38]
Chr16:89846370 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3301A>G (p.Ile1101Val) single nucleotide variant Fanconi anemia [RCV001305449] Chr16:89748706 [GRCh38]
Chr16:89815114 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2644C>T (p.Pro882Ser) single nucleotide variant Fanconi anemia [RCV001338663] Chr16:89765024 [GRCh38]
Chr16:89831432 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.79+4G>A single nucleotide variant Fanconi anemia [RCV001316198] Chr16:89816533 [GRCh38]
Chr16:89882941 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2140C>G (p.Arg714Gly) single nucleotide variant Fanconi anemia [RCV001304870]|not specified [RCV001819997] Chr16:89771689 [GRCh38]
Chr16:89838097 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met) single nucleotide variant Fanconi anemia [RCV001296091]|Fanconi anemia complementation group A [RCV003382501] Chr16:89738954 [GRCh38]
Chr16:89805362 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly) single nucleotide variant Fanconi anemia [RCV001325540] Chr16:89769958 [GRCh38]
Chr16:89836366 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) single nucleotide variant Fanconi anemia [RCV001327579]|Fanconi anemia complementation group A [RCV002504516] Chr16:89816548 [GRCh38]
Chr16:89882956 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3377T>C (p.Leu1126Pro) single nucleotide variant Fanconi anemia [RCV001298277] Chr16:89746862 [GRCh38]
Chr16:89813270 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2779-9C>G single nucleotide variant Fanconi anemia [RCV001314540] Chr16:89762031 [GRCh38]
Chr16:89828439 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2098T>A (p.Ser700Thr) single nucleotide variant Fanconi anemia [RCV001301935] Chr16:89771731 [GRCh38]
Chr16:89838139 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2982-8C>G single nucleotide variant Fanconi anemia [RCV001307466]|not specified [RCV001820000] Chr16:89752230 [GRCh38]
Chr16:89818638 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4124C>T (p.Thr1375Ile) single nucleotide variant Fanconi anemia [RCV001317959] Chr16:89739176 [GRCh38]
Chr16:89805584 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2974C>T (p.His992Tyr) single nucleotide variant Fanconi anemia [RCV001320819] Chr16:89758584 [GRCh38]
Chr16:89824992 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.189+1G>T single nucleotide variant Fanconi anemia [RCV001376795]|Fanconi anemia complementation group A [RCV001330798] Chr16:89815876 [GRCh38]
Chr16:89882284 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met) single nucleotide variant Fanconi anemia [RCV001315162]|Fanconi anemia complementation group A [RCV003145556] Chr16:89784916 [GRCh38]
Chr16:89851324 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr) single nucleotide variant Fanconi anemia [RCV001319837]|not provided [RCV001814303] Chr16:89810970 [GRCh38]
Chr16:89877378 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4350G>A (p.Gln1450=) single nucleotide variant FANCA-related condition [RCV003983873]|Fanconi anemia [RCV001314778] Chr16:89738619 [GRCh38]
Chr16:89805027 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met) single nucleotide variant Fanconi anemia [RCV001317973]|not provided [RCV003478776] Chr16:89739195 [GRCh38]
Chr16:89805603 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg) single nucleotide variant Fanconi anemia [RCV001340196]|Fanconi anemia complementation group A [RCV002493746] Chr16:89784926 [GRCh38]
Chr16:89851334 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2696C>T (p.Pro899Leu) single nucleotide variant Fanconi anemia [RCV001301492] Chr16:89764972 [GRCh38]
Chr16:89831380 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1999C>T (p.Pro667Ser) single nucleotide variant Fanconi anemia [RCV001327615] Chr16:89773286 [GRCh38]
Chr16:89839694 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1404G>C (p.Lys468Asn) single nucleotide variant Fanconi anemia [RCV001318240] Chr16:89784920 [GRCh38]
Chr16:89851328 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln) single nucleotide variant Fanconi anemia [RCV001303413]|not provided [RCV003478767] Chr16:89771688 [GRCh38]
Chr16:89838096 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.195A>C (p.Glu65Asp) single nucleotide variant Fanconi anemia [RCV001340488] Chr16:89814608 [GRCh38]
Chr16:89881016 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1805C>G (p.Ala602Gly) single nucleotide variant Fanconi anemia [RCV001343001] Chr16:89778822 [GRCh38]
Chr16:89845230 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser) single nucleotide variant Fanconi anemia [RCV001300011]|Fanconi anemia complementation group A [RCV001563819] Chr16:89779957 [GRCh38]
Chr16:89846365 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser) single nucleotide variant Fanconi anemia [RCV001342427]|Fanconi anemia complementation group A [RCV002493755] Chr16:89784930 [GRCh38]
Chr16:89851338 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.119C>T (p.Ala40Val) single nucleotide variant Fanconi anemia [RCV001318609]|Fanconi anemia complementation group A [RCV002493667] Chr16:89815947 [GRCh38]
Chr16:89882355 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2833G>A (p.Ala945Thr) single nucleotide variant Fanconi anemia [RCV001349847]|Inborn genetic diseases [RCV002545618] Chr16:89761968 [GRCh38]
Chr16:89828376 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2146C>A (p.His716Asn) single nucleotide variant Fanconi anemia [RCV001309249] Chr16:89771683 [GRCh38]
Chr16:89838091 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*732G>A single nucleotide variant Fanconi anemia [RCV001458991]|Fanconi anemia complementation group A [RCV001331008] Chr16:89738978 [GRCh38]
Chr16:89805386 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr) single nucleotide variant Fanconi anemia [RCV001306254]|Fanconi anemia complementation group A [RCV002499579] Chr16:89746866 [GRCh38]
Chr16:89813274 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro) single nucleotide variant Fanconi anemia [RCV001294503] Chr16:89739526 [GRCh38]
Chr16:89805934 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1615G>A (p.Asp539Asn) single nucleotide variant not provided [RCV001311467] Chr16:89782870 [GRCh38]
Chr16:89849278 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1932C>G (p.Asn644Lys) single nucleotide variant Fanconi anemia [RCV001351754] Chr16:89773353 [GRCh38]
Chr16:89839761 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.529T>G (p.Leu177Val) single nucleotide variant Fanconi anemia [RCV001337711] Chr16:89808361 [GRCh38]
Chr16:89874769 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1225+151T>C single nucleotide variant Fanconi anemia complementation group A [RCV001537721]|not provided [RCV001658259] Chr16:89791776 [GRCh38]
Chr16:89858184 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.827-9T>C single nucleotide variant Fanconi anemia [RCV001396918] Chr16:89799241 [GRCh38]
Chr16:89865649 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2610C>T (p.Phe870=) single nucleotide variant Fanconi anemia [RCV001433604] Chr16:89765058 [GRCh38]
Chr16:89831466 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.147C>G (p.Arg49=) single nucleotide variant Fanconi anemia [RCV001392550] Chr16:89815919 [GRCh38]
Chr16:89882327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3659C>G (p.Pro1220Arg) single nucleotide variant Fanconi anemia [RCV001314263] Chr16:89742906 [GRCh38]
Chr16:89809314 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2821C>A (p.Pro941Thr) single nucleotide variant Fanconi anemia [RCV001361538] Chr16:89761980 [GRCh38]
Chr16:89828388 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.80-10C>T single nucleotide variant Fanconi anemia [RCV001412623] Chr16:89815996 [GRCh38]
Chr16:89882404 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1098G>T (p.Leu366=) single nucleotide variant Fanconi anemia [RCV001422310] Chr16:89792054 [GRCh38]
Chr16:89858462 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3321G>A (p.Gln1107=) single nucleotide variant Fanconi anemia [RCV001391947] Chr16:89748686 [GRCh38]
Chr16:89815094 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2721C>G (p.Ala907=) single nucleotide variant Fanconi anemia [RCV001397003] Chr16:89764947 [GRCh38]
Chr16:89831355 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+1del deletion Fanconi anemia [RCV001382784] Chr16:89773270 [GRCh38]
Chr16:89839678 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.15G>C (p.Trp5Cys) single nucleotide variant Fanconi anemia [RCV001372794] Chr16:89816601 [GRCh38]
Chr16:89883009 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1716-6T>C single nucleotide variant Fanconi anemia [RCV001369468] Chr16:89779009 [GRCh38]
Chr16:89845417 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1194C>G (p.Val398=) single nucleotide variant Fanconi anemia [RCV001395086] Chr16:89791958 [GRCh38]
Chr16:89858366 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly) single nucleotide variant Fanconi anemia [RCV001880240]|Fanconi anemia complementation group A [RCV001277942] Chr16:89769942 [GRCh38]
Chr16:89836350 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-8C>G single nucleotide variant Fanconi anemia [RCV002069417]|Fanconi anemia complementation group A [RCV001277944] Chr16:89770267 [GRCh38]
Chr16:89836675 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1568T>A (p.Val523Asp) single nucleotide variant Fanconi anemia complementation group A [RCV001277946] Chr16:89782917 [GRCh38]
Chr16:89849325 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*733A>G single nucleotide variant Fanconi anemia [RCV001391998] Chr16:89738979 [GRCh38]
Chr16:89805387 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2964G>C (p.Leu988=) single nucleotide variant Fanconi anemia [RCV001395715]|Fanconi anemia complementation group A [RCV002504664] Chr16:89758594 [GRCh38]
Chr16:89825002 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1842C>A (p.Pro614=) single nucleotide variant Fanconi anemia [RCV001395720] Chr16:89775800 [GRCh38]
Chr16:89842208 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3177G>C (p.Leu1059=) single nucleotide variant Fanconi anemia [RCV001391736] Chr16:89749792 [GRCh38]
Chr16:89816200 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=) single nucleotide variant Fanconi anemia [RCV001414348]|not specified [RCV001820111] Chr16:89749807 [GRCh38]
Chr16:89816215 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1709A>G (p.Glu570Gly) single nucleotide variant Fanconi anemia [RCV001305892] Chr16:89779875 [GRCh38]
Chr16:89846283 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1460G>A (p.Arg487Gln) single nucleotide variant Fanconi anemia [RCV001369388] Chr16:89784864 [GRCh38]
Chr16:89851272 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2962C>T (p.Leu988=) single nucleotide variant Fanconi anemia [RCV001414660] Chr16:89758596 [GRCh38]
Chr16:89825004 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val) single nucleotide variant Fanconi anemia [RCV001294421]|Fanconi anemia complementation group A [RCV002486109] Chr16:89761958 [GRCh38]
Chr16:89828366 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3690G>A (p.Leu1230=) single nucleotide variant Fanconi anemia [RCV001415283] Chr16:89742875 [GRCh38]
Chr16:89809283 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2613C>T (p.Leu871=) single nucleotide variant Fanconi anemia [RCV001397495] Chr16:89765055 [GRCh38]
Chr16:89831463 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.805G>A (p.Val269Ile) single nucleotide variant Fanconi anemia [RCV001371204] Chr16:89799626 [GRCh38]
Chr16:89866034 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1323C>T (p.Gly441=) single nucleotide variant Fanconi anemia [RCV001397251] Chr16:89791439 [GRCh38]
Chr16:89857847 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1294C>T (p.Leu432=) single nucleotide variant Fanconi anemia [RCV001415316] Chr16:89791468 [GRCh38]
Chr16:89857876 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr) single nucleotide variant Fanconi anemia complementation group A [RCV001293879] Chr16:89770017 [GRCh38]
Chr16:89836425 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1856C>A (p.Ser619Tyr) single nucleotide variant Fanconi anemia [RCV001349793] Chr16:89775786 [GRCh38]
Chr16:89842194 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) single nucleotide variant Fanconi anemia [RCV001373469]|Fanconi anemia complementation group A [RCV002499768] Chr16:89739167 [GRCh38]
Chr16:89805575 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1226-6A>T single nucleotide variant Fanconi anemia [RCV001422847] Chr16:89791542 [GRCh38]
Chr16:89857950 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3082C>T (p.Leu1028=) single nucleotide variant Fanconi anemia [RCV001397564] Chr16:89749887 [GRCh38]
Chr16:89816295 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1660G>A (p.Ala554Thr) single nucleotide variant Fanconi anemia [RCV001360782] Chr16:89779924 [GRCh38]
Chr16:89846332 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2014+10G>T single nucleotide variant Fanconi anemia [RCV001362753] Chr16:89773261 [GRCh38]
Chr16:89839669 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.80-10C>A single nucleotide variant Fanconi anemia [RCV001371864] Chr16:89815996 [GRCh38]
Chr16:89882404 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1733A>G (p.Tyr578Cys) single nucleotide variant Fanconi anemia [RCV001373760] Chr16:89778986 [GRCh38]
Chr16:89845394 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs) deletion Fanconi anemia [RCV001382609] Chr16:89749814..89749815 [GRCh38]
Chr16:89816222..89816223 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1810A>G (p.Ile604Val) single nucleotide variant Fanconi anemia [RCV001296946] Chr16:89778817 [GRCh38]
Chr16:89845225 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2151G>A (p.Met717Ile) single nucleotide variant Fanconi anemia [RCV001344649] Chr16:89771678 [GRCh38]
Chr16:89838086 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) single nucleotide variant Fanconi anemia [RCV001323812]|Fanconi anemia complementation group A [RCV002291746]|not provided [RCV003478782] Chr16:89791483 [GRCh38]
Chr16:89857891 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2428G>T (p.Ala810Ser) single nucleotide variant Fanconi anemia [RCV001364696] Chr16:89769913 [GRCh38]
Chr16:89836321 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.769G>T (p.Val257Leu) single nucleotide variant Fanconi anemia [RCV001341950] Chr16:89803282 [GRCh38]
Chr16:89869690 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg) single nucleotide variant Fanconi anemia [RCV001321542]|not provided [RCV003478780] Chr16:89770016 [GRCh38]
Chr16:89836424 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser) single nucleotide variant Fanconi anemia [RCV001345716]|Fanconi anemia complementation group A [RCV002493777] Chr16:89770600 [GRCh38]
Chr16:89837008 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala) single nucleotide variant FANCA-related condition [RCV003405615]|Fanconi anemia [RCV001369132]|Fanconi anemia complementation group A [RCV002499756] Chr16:89771704 [GRCh38]
Chr16:89838112 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2756T>C (p.Val919Ala) single nucleotide variant Fanconi anemia [RCV001364175] Chr16:89764912 [GRCh38]
Chr16:89831320 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1940A>G (p.Glu647Gly) single nucleotide variant Fanconi anemia [RCV001364771] Chr16:89773345 [GRCh38]
Chr16:89839753 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg) single nucleotide variant Fanconi anemia [RCV001318525] Chr16:89739212 [GRCh38]
Chr16:89805620 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3626+5G>A single nucleotide variant Fanconi anemia [RCV001362861] Chr16:89744954 [GRCh38]
Chr16:89811362 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val) single nucleotide variant Fanconi anemia [RCV001369682]|Fanconi anemia complementation group A [RCV002488153] Chr16:89791933 [GRCh38]
Chr16:89858341 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2711A>G (p.Gln904Arg) single nucleotide variant Fanconi anemia [RCV001339821] Chr16:89764957 [GRCh38]
Chr16:89831365 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.79+10C>T single nucleotide variant Fanconi anemia [RCV001343713]|not provided [RCV003478788]|not specified [RCV003151303] Chr16:89816527 [GRCh38]
Chr16:89882935 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser) single nucleotide variant Fanconi anemia [RCV001344858]|Fanconi anemia complementation group A [RCV003448396] Chr16:89762015 [GRCh38]
Chr16:89828423 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.575G>T (p.Ser192Ile) single nucleotide variant Fanconi anemia [RCV001371584] Chr16:89808315 [GRCh38]
Chr16:89874723 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2490G>T (p.Leu830Phe) single nucleotide variant Fanconi anemia [RCV001371637] Chr16:89769851 [GRCh38]
Chr16:89836259 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1007-2dup duplication Fanconi anemia [RCV001370051] Chr16:89792548..89792549 [GRCh38]
Chr16:89858956..89858957 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3421G>T (p.Ala1141Ser) single nucleotide variant Fanconi anemia [RCV001365071] Chr16:89746676 [GRCh38]
Chr16:89813084 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His) single nucleotide variant Fanconi anemia [RCV002541820]|Fanconi anemia complementation group A [RCV001293883] Chr16:89739202 [GRCh38]
Chr16:89805610 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89882935)_(89883024_?)dup duplication Fanconi anemia [RCV001318733] Chr16:89882935..89883024 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1046A>G single nucleotide variant Fanconi anemia [RCV001342214] Chr16:89739292 [GRCh38]
Chr16:89805700 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4118C>G (p.Thr1373Arg) single nucleotide variant Fanconi anemia [RCV001346805] Chr16:89739182 [GRCh38]
Chr16:89805590 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys) single nucleotide variant Fanconi anemia [RCV001346814]|not provided [RCV003478791] Chr16:89748757 [GRCh38]
Chr16:89815165 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2622A>G (p.Arg874=) single nucleotide variant Fanconi anemia [RCV001365131] Chr16:89765046 [GRCh38]
Chr16:89831454 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2000C>A (p.Pro667His) single nucleotide variant Fanconi anemia [RCV001338760] Chr16:89773285 [GRCh38]
Chr16:89839693 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val) single nucleotide variant Fanconi anemia [RCV001338765] Chr16:89742877 [GRCh38]
Chr16:89809285 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2447C>T (p.Ala816Val) single nucleotide variant Fanconi anemia [RCV001344980] Chr16:89769894 [GRCh38]
Chr16:89836302 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu) single nucleotide variant Fanconi anemia [RCV001346961]|not provided [RCV003478792] Chr16:89769924 [GRCh38]
Chr16:89836332 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3416T>A (p.Leu1139Gln) single nucleotide variant not provided [RCV001358216] Chr16:89746681 [GRCh38]
Chr16:89813089 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2309G>A (p.Arg770His) single nucleotide variant Fanconi anemia [RCV001338065]|Fanconi anemia complementation group A [RCV002499667]|not specified [RCV001820035] Chr16:89770173 [GRCh38]
Chr16:89836581 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.92A>G (p.Lys31Arg) single nucleotide variant Fanconi anemia [RCV001338074] Chr16:89815974 [GRCh38]
Chr16:89882382 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2239G>T (p.Ala747Ser) single nucleotide variant Fanconi anemia [RCV001343968] Chr16:89770243 [GRCh38]
Chr16:89836651 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3029G>T (p.Gly1010Val) single nucleotide variant Fanconi anemia [RCV001322054] Chr16:89752175 [GRCh38]
Chr16:89818583 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr) single nucleotide variant Fanconi anemia [RCV001324207]|Fanconi anemia complementation group A [RCV001535512] Chr16:89795908 [GRCh38]
Chr16:89862316 [GRCh37]
Chr16:16q24.3		 uncertain significance|not provided
NM_000135.4(FANCA):c.2530T>C (p.Ser844Pro) single nucleotide variant Fanconi anemia [RCV001372224] Chr16:89767212 [GRCh38]
Chr16:89833620 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2601G>A (p.Lys867=) single nucleotide variant Fanconi anemia [RCV001327583] Chr16:89767141 [GRCh38]
Chr16:89833549 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.869C>G (p.Ser290Cys) single nucleotide variant Fanconi anemia [RCV001327597] Chr16:89799190 [GRCh38]
Chr16:89865598 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu) single nucleotide variant Fanconi anemia [RCV001880241]|Fanconi anemia complementation group A [RCV001277945] Chr16:89782912 [GRCh38]
Chr16:89849320 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1803G>A (p.Val601=) single nucleotide variant Fanconi anemia [RCV001301936]|not provided [RCV003416170] Chr16:89778824 [GRCh38]
Chr16:89845232 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.386C>A (p.Ala129Glu) single nucleotide variant Fanconi anemia [RCV001302004] Chr16:89810969 [GRCh38]
Chr16:89877377 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr) single nucleotide variant Fanconi anemia [RCV001320570]|Fanconi anemia complementation group A [RCV002476502] Chr16:89749833 [GRCh38]
Chr16:89816241 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.121C>G (p.Gln41Glu) single nucleotide variant Fanconi anemia [RCV001302030] Chr16:89815945 [GRCh38]
Chr16:89882353 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.166G>A (p.Asp56Asn) single nucleotide variant Fanconi anemia [RCV001323193] Chr16:89815900 [GRCh38]
Chr16:89882308 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4291G>A (p.Glu1431Lys) single nucleotide variant Fanconi anemia [RCV001323224] Chr16:89738678 [GRCh38]
Chr16:89805086 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu) single nucleotide variant Fanconi anemia [RCV001346086]|Inborn genetic diseases [RCV002547451]|not provided [RCV003442863] Chr16:89810954 [GRCh38]
Chr16:89877362 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val) single nucleotide variant Fanconi anemia [RCV001324258]|Fanconi anemia complementation group A [RCV002486298] Chr16:89784918 [GRCh38]
Chr16:89851326 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr) single nucleotide variant Fanconi anemia [RCV001347204]|Fanconi anemia complementation group A [RCV002486417] Chr16:89739155 [GRCh38]
Chr16:89805563 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) single nucleotide variant Fanconi anemia [RCV001361375]|Fanconi anemia complementation group A [RCV002504592] Chr16:89744975 [GRCh38]
Chr16:89811383 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001292921] Chr16:89767213 [GRCh38]
Chr16:89833621 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1679A>C (p.His560Pro) single nucleotide variant Fanconi anemia [RCV001345129] Chr16:89779905 [GRCh38]
Chr16:89846313 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3128C>T (p.Ser1043Phe) single nucleotide variant Fanconi anemia [RCV001347351] Chr16:89749841 [GRCh38]
Chr16:89816249 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2182C>G (p.Gln728Glu) single nucleotide variant Fanconi anemia [RCV001372447] Chr16:89770604 [GRCh38]
Chr16:89837012 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1198T>C (p.Phe400Leu) single nucleotide variant Fanconi anemia [RCV001368964] Chr16:89791954 [GRCh38]
Chr16:89858362 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3708A>C (p.Gln1236His) single nucleotide variant Fanconi anemia [RCV001369202] Chr16:89742857 [GRCh38]
Chr16:89809265 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg) single nucleotide variant Fanconi anemia [RCV001323317]|Fanconi anemia complementation group A [RCV002493689] Chr16:89816578 [GRCh38]
Chr16:89882986 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3580C>T (p.Pro1194Ser) single nucleotide variant Fanconi anemia [RCV001323330] Chr16:89745005 [GRCh38]
Chr16:89811413 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.360C>A (p.Ser120Arg) single nucleotide variant Fanconi anemia [RCV001361622] Chr16:89810995 [GRCh38]
Chr16:89877403 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3480G>C (p.Gln1160His) single nucleotide variant Fanconi anemia [RCV001363361] Chr16:89746617 [GRCh38]
Chr16:89813025 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2429C>G (p.Ala810Gly) single nucleotide variant Fanconi anemia [RCV001296371] Chr16:89769912 [GRCh38]
Chr16:89836320 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2688G>T (p.Leu896Phe) single nucleotide variant Fanconi anemia [RCV001298437] Chr16:89764980 [GRCh38]
Chr16:89831388 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1771C>G (p.Arg591Gly) single nucleotide variant Fanconi anemia [RCV001300724] Chr16:89778948 [GRCh38]
Chr16:89845356 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1567-9T>A single nucleotide variant FANCA-related condition [RCV003393965]|Fanconi anemia [RCV001304314] Chr16:89782927 [GRCh38]
Chr16:89849335 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup) duplication Fanconi anemia [RCV001349858] Chr16:89778815..89778816 [GRCh38]
Chr16:89845223..89845224 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1297G>A (p.Val433Ile) single nucleotide variant Fanconi anemia [RCV001370229] Chr16:89791465 [GRCh38]
Chr16:89857873 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg) single nucleotide variant Fanconi anemia [RCV001323483]|Fanconi anemia complementation group A [RCV002476521] Chr16:89810714 [GRCh38]
Chr16:89877122 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.668C>T (p.Ala223Val) single nucleotide variant Fanconi anemia [RCV001372911]|not specified [RCV001820076] Chr16:89805321 [GRCh38]
Chr16:89871729 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2846C>T (p.Thr949Ile) single nucleotide variant Fanconi anemia [RCV001316180] Chr16:89761955 [GRCh38]
Chr16:89828363 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2618T>G (p.Phe873Cys) single nucleotide variant Fanconi anemia [RCV001321064] Chr16:89765050 [GRCh38]
Chr16:89831458 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1231G>A (p.Val411Met) single nucleotide variant Fanconi anemia [RCV001373006] Chr16:89791531 [GRCh38]
Chr16:89857939 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp) single nucleotide variant Fanconi anemia [RCV001299597]|Fanconi anemia complementation group A [RCV001760347]|not provided [RCV003238338] Chr16:89816561 [GRCh38]
Chr16:89882969 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.558C>G (p.His186Gln) single nucleotide variant Fanconi anemia [RCV001300970]|Fanconi anemia complementation group A [RCV002499559] Chr16:89808332 [GRCh38]
Chr16:89874740 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly) single nucleotide variant Fanconi anemia [RCV001300971]|not provided [RCV001751579] Chr16:89791411 [GRCh38]
Chr16:89857819 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.837C>A (p.Asp279Glu) single nucleotide variant Fanconi anemia [RCV001321097] Chr16:89799222 [GRCh38]
Chr16:89865630 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3482C>A (p.Thr1161Lys) single nucleotide variant Fanconi anemia [RCV001343114] Chr16:89746615 [GRCh38]
Chr16:89813023 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys) single nucleotide variant Fanconi anemia [RCV001345449]|Fanconi anemia complementation group A [RCV002486403] Chr16:89791525 [GRCh38]
Chr16:89857933 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4293G>C (p.Glu1431Asp) single nucleotide variant Fanconi anemia [RCV001347981] Chr16:89738676 [GRCh38]
Chr16:89805084 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.19C>G (p.Pro7Ala) single nucleotide variant Fanconi anemia [RCV001362227] Chr16:89816597 [GRCh38]
Chr16:89883005 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2018T>C (p.Ile673Thr) single nucleotide variant Fanconi anemia [RCV001325061] Chr16:89771811 [GRCh38]
Chr16:89838219 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.107A>G (p.Asn36Ser) single nucleotide variant Fanconi anemia [RCV001321312] Chr16:89815959 [GRCh38]
Chr16:89882367 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro) single nucleotide variant Fanconi anemia [RCV001322694]|Fanconi anemia complementation group A [RCV002486287] Chr16:89778828 [GRCh38]
Chr16:89845236 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1827-3C>T single nucleotide variant Fanconi anemia [RCV001373383] Chr16:89775818 [GRCh38]
Chr16:89842226 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1359+4A>T single nucleotide variant Fanconi anemia [RCV001337474]|Fanconi anemia complementation group A [RCV002486347] Chr16:89791399 [GRCh38]
Chr16:89857807 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3056C>A (p.Ser1019Tyr) single nucleotide variant Fanconi anemia [RCV001296785] Chr16:89752148 [GRCh38]
Chr16:89818556 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.520C>A (p.Gln174Lys) single nucleotide variant Fanconi anemia [RCV001299839] Chr16:89810709 [GRCh38]
Chr16:89877117 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2842G>C (p.Asp948His) single nucleotide variant Fanconi anemia [RCV001366149]|not provided [RCV003478797] Chr16:89761959 [GRCh38]
Chr16:89828367 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.892T>C (p.Trp298Arg) single nucleotide variant Fanconi anemia [RCV001324759] Chr16:89799167 [GRCh38]
Chr16:89865575 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1305C>T (p.Arg435=) single nucleotide variant Fanconi anemia [RCV001396161] Chr16:89791457 [GRCh38]
Chr16:89857865 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1057C>G (p.Pro353Ala) single nucleotide variant Fanconi anemia [RCV001308771] Chr16:89792497 [GRCh38]
Chr16:89858905 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr) single nucleotide variant Fanconi anemia [RCV001314519]|Fanconi anemia complementation group A [RCV002486229] Chr16:89782911 [GRCh38]
Chr16:89849319 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1877C>T (p.Ser626Phe) single nucleotide variant Fanconi anemia [RCV001299482] Chr16:89775765 [GRCh38]
Chr16:89842173 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1330G>A (p.Ala444Thr) single nucleotide variant Fanconi anemia [RCV001370903] Chr16:89791432 [GRCh38]
Chr16:89857840 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3264T>C (p.Ser1088=) single nucleotide variant Fanconi anemia [RCV001421546] Chr16:89748743 [GRCh38]
Chr16:89815151 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2109G>C (p.Gln703His) single nucleotide variant Fanconi anemia [RCV001309099]|Fanconi anemia complementation group A [RCV002476427] Chr16:89771720 [GRCh38]
Chr16:89838128 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2050C>G (p.Leu684Val) single nucleotide variant Fanconi anemia [RCV001366731] Chr16:89771779 [GRCh38]
Chr16:89838187 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3251G>T (p.Arg1084Leu) single nucleotide variant Fanconi anemia [RCV001366782] Chr16:89748756 [GRCh38]
Chr16:89815164 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1543A>C (p.Lys515Gln) single nucleotide variant Fanconi anemia [RCV001306602] Chr16:89783030 [GRCh38]
Chr16:89849438 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1827-3C>G single nucleotide variant Fanconi anemia [RCV001367573] Chr16:89775818 [GRCh38]
Chr16:89842226 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2684C>A (p.Pro895His) single nucleotide variant Fanconi anemia [RCV001325831] Chr16:89764984 [GRCh38]
Chr16:89831392 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg) single nucleotide variant Fanconi anemia [RCV001318602] Chr16:89738626 [GRCh38]
Chr16:89805034 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) single nucleotide variant Fanconi anemia [RCV001300117]|Fanconi anemia complementation group A [RCV002476391]|not specified [RCV001819989] Chr16:89773334 [GRCh38]
Chr16:89839742 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu) single nucleotide variant Fanconi anemia [RCV001367885] Chr16:89739195 [GRCh38]
Chr16:89805603 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) indel Fanconi anemia complementation group A [RCV001330800] Chr16:89765035..89765036 [GRCh38]
Chr16:89831443..89831444 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2394C>T (p.Leu798=) single nucleotide variant Fanconi anemia [RCV001431916]|Fanconi anemia complementation group A [RCV001277943]|not provided [RCV003405481] Chr16:89769947 [GRCh38]
Chr16:89836355 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1500C>T (p.Pro500=) single nucleotide variant Fanconi anemia [RCV001437567]|Fanconi anemia complementation group A [RCV001277947] Chr16:89783073 [GRCh38]
Chr16:89849481 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.76C>G (p.Leu26Val) single nucleotide variant Fanconi anemia complementation group A [RCV001277949] Chr16:89816540 [GRCh38]
Chr16:89882948 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.330T>C (p.Gly110=) single nucleotide variant Fanconi anemia [RCV001394724] Chr16:89811025 [GRCh38]
Chr16:89877433 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3312A>G (p.Arg1104=) single nucleotide variant Fanconi anemia [RCV001327279] Chr16:89748695 [GRCh38]
Chr16:89815103 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.624G>A (p.Ser208=) single nucleotide variant Fanconi anemia [RCV001394841] Chr16:89805365 [GRCh38]
Chr16:89871773 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3120C>T (p.His1040=) single nucleotide variant Fanconi anemia [RCV001394860] Chr16:89749849 [GRCh38]
Chr16:89816257 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2213C>A (p.Pro738His) single nucleotide variant Fanconi anemia [RCV001368210] Chr16:89770573 [GRCh38]
Chr16:89836981 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1588C>T (p.Leu530Phe) single nucleotide variant Fanconi anemia [RCV001327303] Chr16:89782897 [GRCh38]
Chr16:89849305 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2331T>C (p.Ser777=) single nucleotide variant Fanconi anemia [RCV001413969] Chr16:89770010 [GRCh38]
Chr16:89836418 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln) single nucleotide variant Fanconi anemia [RCV002547601]|Fanconi anemia complementation group A [RCV002493817]|not provided [RCV001354987] Chr16:89816596 [GRCh38]
Chr16:89883004 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val) single nucleotide variant Fanconi anemia [RCV001306018]|not specified [RCV001290656] Chr16:89775771 [GRCh38]
Chr16:89842179 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2874G>A (p.Ala958=) single nucleotide variant Fanconi anemia [RCV001503585]|Fanconi anemia complementation group A [RCV001280431] Chr16:89758684 [GRCh38]
Chr16:89825092 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu) single nucleotide variant Fanconi anemia [RCV001300103]|Fanconi anemia complementation group A [RCV001280432] Chr16:89758696 [GRCh38]
Chr16:89825104 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys) single nucleotide variant Fanconi anemia [RCV001327003]|Fanconi anemia complementation group A [RCV002486317]|not provided [RCV003478784] Chr16:89778829 [GRCh38]
Chr16:89845237 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1360-64_1360del deletion Fanconi anemia [RCV001371636] Chr16:89784964..89785028 [GRCh38]
Chr16:89851372..89851436 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4149C>T (p.Ser1383=) single nucleotide variant Fanconi anemia [RCV001412757] Chr16:89739151 [GRCh38]
Chr16:89805559 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+6C>G single nucleotide variant Fanconi anemia [RCV001369783]|Fanconi anemia complementation group A [RCV002488154] Chr16:89783001 [GRCh38]
Chr16:89849409 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4242C>T (p.Ser1414=) single nucleotide variant Fanconi anemia [RCV001421431] Chr16:89738900 [GRCh38]
Chr16:89805308 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.498C>T (p.Phe166=) single nucleotide variant Fanconi anemia [RCV001412988] Chr16:89810731 [GRCh38]
Chr16:89877139 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.234T>C (p.Ile78=) single nucleotide variant Fanconi anemia [RCV001395352] Chr16:89814569 [GRCh38]
Chr16:89880977 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.690C>A (p.Val230=) single nucleotide variant Fanconi anemia [RCV001396484] Chr16:89805299 [GRCh38]
Chr16:89871707 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly) single nucleotide variant Fanconi anemia [RCV001303419] Chr16:89744980 [GRCh38]
Chr16:89811388 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3239+8C>G single nucleotide variant Fanconi anemia [RCV001493826] Chr16:89749722 [GRCh38]
Chr16:89816130 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-6C>G single nucleotide variant Fanconi anemia [RCV001493886] Chr16:89799238 [GRCh38]
Chr16:89865646 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.7G>C (p.Asp3His) single nucleotide variant Fanconi anemia [RCV001349027] Chr16:89816609 [GRCh38]
Chr16:89883017 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3626+5G>C single nucleotide variant Fanconi anemia complementation group A [RCV001293881] Chr16:89744954 [GRCh38]
Chr16:89811362 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys) single nucleotide variant Fanconi anemia [RCV002546620]|Fanconi anemia complementation group A [RCV001333234] Chr16:89779930 [GRCh38]
Chr16:89846338 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg) single nucleotide variant Fanconi anemia [RCV001865780]|Fanconi anemia complementation group A [RCV001333236]|Inborn genetic diseases [RCV002546621] Chr16:89746872 [GRCh38]
Chr16:89813280 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.202C>T (p.Leu68=) single nucleotide variant Fanconi anemia [RCV001412830] Chr16:89814601 [GRCh38]
Chr16:89881009 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3805C>T (p.Leu1269=) single nucleotide variant FANCA-related condition [RCV003900449]|Fanconi anemia [RCV001421652] Chr16:89740827 [GRCh38]
Chr16:89807235 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*627T>C single nucleotide variant Fanconi anemia [RCV001413805] Chr16:89738873 [GRCh38]
Chr16:89805281 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2028G>C (p.Gln676His) single nucleotide variant Fanconi anemia [RCV001298781] Chr16:89771801 [GRCh38]
Chr16:89838209 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2704G>C (p.Asp902His) single nucleotide variant Fanconi anemia [RCV001312942]|Fanconi anemia complementation group A [RCV002499600] Chr16:89764964 [GRCh38]
Chr16:89831372 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs) duplication Fanconi anemia [RCV001349630] Chr16:89738956..89738957 [GRCh38]
Chr16:89805364..89805365 [GRCh37]
Chr16:16q24.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.528T>C (p.Ser176=) single nucleotide variant Fanconi anemia [RCV001395276] Chr16:89808362 [GRCh38]
Chr16:89874770 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.512G>T (p.Trp171Leu) single nucleotide variant Fanconi anemia [RCV001366082] Chr16:89810717 [GRCh38]
Chr16:89877125 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1254A>G (p.Ala418=) single nucleotide variant Fanconi anemia [RCV001486578] Chr16:89791508 [GRCh38]
Chr16:89857916 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-8T>C single nucleotide variant Fanconi anemia [RCV001490225] Chr16:89811079 [GRCh38]
Chr16:89877487 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-10T>C single nucleotide variant Fanconi anemia [RCV001492163] Chr16:89762032 [GRCh38]
Chr16:89828440 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.546G>A (p.Val182=) single nucleotide variant Fanconi anemia [RCV001474963] Chr16:89808344 [GRCh38]
Chr16:89874752 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3066+10A>T single nucleotide variant Fanconi anemia [RCV001495015] Chr16:89752128 [GRCh38]
Chr16:89818536 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-7_1716-6del microsatellite Fanconi anemia [RCV001457482] Chr16:89779009..89779010 [GRCh38]
Chr16:89845417..89845418 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3348+9C>T single nucleotide variant Fanconi anemia [RCV001435481] Chr16:89748650 [GRCh38]
Chr16:89815058 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs) microsatellite Fanconi anemia [RCV001387087] Chr16:89749756..89749757 [GRCh38]
Chr16:89816164..89816165 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.523-9G>C single nucleotide variant Fanconi anemia [RCV001440949] Chr16:89808376 [GRCh38]
Chr16:89874784 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.924C>A (p.Gly308=) single nucleotide variant Fanconi anemia [RCV001456909]|Fanconi anemia complementation group A [RCV002506533] Chr16:89795988 [GRCh38]
Chr16:89862396 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-17C>T single nucleotide variant Fanconi anemia [RCV001504082]|Fanconi anemia complementation group A [RCV002488297] Chr16:89742955 [GRCh38]
Chr16:89809363 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3450G>C (p.Leu1150=) single nucleotide variant Fanconi anemia [RCV001486798] Chr16:89746647 [GRCh38]
Chr16:89813055 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2778+7_2778+36del deletion Fanconi anemia [RCV001475036]|not provided [RCV003481111] Chr16:89764854..89764883 [GRCh38]
Chr16:89831262..89831291 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.693C>T (p.Ala231=) single nucleotide variant Fanconi anemia [RCV001495572] Chr16:89805296 [GRCh38]
Chr16:89871704 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2448G>A (p.Ala816=) single nucleotide variant Fanconi anemia [RCV001499210]|not provided [RCV003416367] Chr16:89769893 [GRCh38]
Chr16:89836301 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+12C>T single nucleotide variant Fanconi anemia [RCV001494672]|Fanconi anemia complementation group A [RCV002501698] Chr16:89791915 [GRCh38]
Chr16:89858323 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1482C>G (p.Leu494=) single nucleotide variant Fanconi anemia [RCV001424682] Chr16:89783091 [GRCh38]
Chr16:89849499 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1857C>T (p.Ser619=) single nucleotide variant Fanconi anemia [RCV001404578] Chr16:89775785 [GRCh38]
Chr16:89842193 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89828347)_(89862436_?)del deletion Fanconi anemia [RCV001377600] Chr16:89828347..89862436 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.9:g.(?_89857801)_(89881031_?)del deletion Fanconi anemia [RCV001377602] Chr16:89857801..89881031 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2853-4C>T single nucleotide variant Fanconi anemia [RCV001464254] Chr16:89758709 [GRCh38]
Chr16:89825117 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.360C>T (p.Ser120=) single nucleotide variant Fanconi anemia [RCV001487093] Chr16:89810995 [GRCh38]
Chr16:89877403 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.318G>T (p.Gly106=) single nucleotide variant Fanconi anemia [RCV001487208] Chr16:89811037 [GRCh38]
Chr16:89877445 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4104C>T (p.Phe1368=) single nucleotide variant Fanconi anemia [RCV001468354] Chr16:89739196 [GRCh38]
Chr16:89805604 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3951G>C (p.Arg1317=) single nucleotide variant Fanconi anemia [RCV001424925] Chr16:89739537 [GRCh38]
Chr16:89805945 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1029G>A (p.Gln343=) single nucleotide variant Fanconi anemia [RCV001441174] Chr16:89792525 [GRCh38]
Chr16:89858933 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3972G>C (p.Pro1324=) single nucleotide variant Fanconi anemia [RCV001441191]|not specified [RCV001820134] Chr16:89739516 [GRCh38]
Chr16:89805924 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-7G>A single nucleotide variant Fanconi anemia [RCV001484289] Chr16:89811078 [GRCh38]
Chr16:89877486 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.876C>T (p.His292=) single nucleotide variant Fanconi anemia [RCV001487522] Chr16:89799183 [GRCh38]
Chr16:89865591 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2028G>A (p.Gln676=) single nucleotide variant Fanconi anemia [RCV001458460] Chr16:89771801 [GRCh38]
Chr16:89838209 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.894-4G>T single nucleotide variant Fanconi anemia [RCV001450987] Chr16:89796022 [GRCh38]
Chr16:89862430 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+19C>G single nucleotide variant Fanconi anemia [RCV002070287]|not provided [RCV001509535] Chr16:89799147 [GRCh38]
Chr16:89865555 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1485C>T (p.His495=) single nucleotide variant Fanconi anemia [RCV001399631] Chr16:89783088 [GRCh38]
Chr16:89849496 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1308G>C (p.Gln436His) single nucleotide variant Fanconi anemia [RCV001378190] Chr16:89791454 [GRCh38]
Chr16:89857862 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1332G>T (p.Ala444=) single nucleotide variant Fanconi anemia [RCV001430534] Chr16:89791430 [GRCh38]
Chr16:89857838 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3714G>A (p.Arg1238=) single nucleotide variant Fanconi anemia [RCV001502231] Chr16:89742851 [GRCh38]
Chr16:89809259 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1986C>G (p.Ala662=) single nucleotide variant Fanconi anemia [RCV001487739] Chr16:89773299 [GRCh38]
Chr16:89839707 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.177C>T (p.Ala59=) single nucleotide variant Fanconi anemia [RCV001503108] Chr16:89815889 [GRCh38]
Chr16:89882297 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2015-4G>A single nucleotide variant Fanconi anemia [RCV001506191]|Fanconi anemia complementation group A [RCV002501734] Chr16:89771818 [GRCh38]
Chr16:89838226 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1440C>T (p.Leu480=) single nucleotide variant Fanconi anemia [RCV001506241] Chr16:89784884 [GRCh38]
Chr16:89851292 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.54C>T (p.Arg18=) single nucleotide variant Fanconi anemia [RCV001436250] Chr16:89816562 [GRCh38]
Chr16:89882970 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.882C>T (p.Ile294=) single nucleotide variant Fanconi anemia [RCV001425127] Chr16:89799177 [GRCh38]
Chr16:89865585 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1257C>T (p.Phe419=) single nucleotide variant Fanconi anemia [RCV001399656] Chr16:89791505 [GRCh38]
Chr16:89857913 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-10C>T single nucleotide variant Fanconi anemia [RCV001492561] Chr16:89792557 [GRCh38]
Chr16:89858965 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4158C>G (p.Leu1386=) single nucleotide variant Fanconi anemia [RCV001492582] Chr16:89739142 [GRCh38]
Chr16:89805550 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-7T>C single nucleotide variant Fanconi anemia [RCV001476372] Chr16:89770641 [GRCh38]
Chr16:89837049 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.927T>C (p.Ser309=) single nucleotide variant Fanconi anemia [RCV001479967] Chr16:89795985 [GRCh38]
Chr16:89862393 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3696T>C (p.Phe1232=) single nucleotide variant Fanconi anemia [RCV001496316] Chr16:89742869 [GRCh38]
Chr16:89809277 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3638dup (p.Pro1213_Glu1214insTer) duplication Fanconi anemia [RCV001387687] Chr16:89742926..89742927 [GRCh38]
Chr16:89809334..89809335 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3738A>G (p.Leu1246=) single nucleotide variant Fanconi anemia [RCV001438977] Chr16:89742827 [GRCh38]
Chr16:89809235 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4308C>T (p.Leu1436=) single nucleotide variant Fanconi anemia [RCV001504984] Chr16:89738661 [GRCh38]
Chr16:89805069 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1863G>A single nucleotide variant Fanconi anemia [RCV001470986] Chr16:89740109 [GRCh38]
Chr16:89806517 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*470A>G single nucleotide variant Fanconi anemia [RCV001475469] Chr16:89738716 [GRCh38]
Chr16:89805124 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-7G>A single nucleotide variant Fanconi anemia [RCV001469003] Chr16:89779964 [GRCh38]
Chr16:89846372 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) single nucleotide variant Fanconi anemia [RCV001476379]|Fanconi anemia complementation group A [RCV002495709] Chr16:89758621 [GRCh38]
Chr16:89825029 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4038G>A (p.Ala1346=) single nucleotide variant Fanconi anemia [RCV001459018]|not provided [RCV003478843] Chr16:89739262 [GRCh38]
Chr16:89805670 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2580A>G (p.Leu860=) single nucleotide variant Fanconi anemia [RCV001436704] Chr16:89767162 [GRCh38]
Chr16:89833570 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3186G>A (p.Gly1062=) single nucleotide variant Fanconi anemia [RCV001479096] Chr16:89749783 [GRCh38]
Chr16:89816191 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3541C>T (p.Leu1181=) single nucleotide variant Fanconi anemia [RCV001488492] Chr16:89745044 [GRCh38]
Chr16:89811452 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1416C>T (p.Phe472=) single nucleotide variant Fanconi anemia [RCV001471455] Chr16:89784908 [GRCh38]
Chr16:89851316 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-7T>C single nucleotide variant Fanconi anemia [RCV001491319] Chr16:89767244 [GRCh38]
Chr16:89833652 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2382C>T (p.Ser794=) single nucleotide variant Fanconi anemia [RCV001492728] Chr16:89769959 [GRCh38]
Chr16:89836367 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+7C>G single nucleotide variant Fanconi anemia [RCV001452280] Chr16:89749723 [GRCh38]
Chr16:89816131 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+7T>C single nucleotide variant Fanconi anemia [RCV001469294] Chr16:89769830 [GRCh38]
Chr16:89836238 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter) single nucleotide variant Fanconi anemia [RCV001388012] Chr16:89749800 [GRCh38]
Chr16:89816208 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1542C>G (p.Ala514=) single nucleotide variant Fanconi anemia [RCV001455471] Chr16:89783031 [GRCh38]
Chr16:89849439 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2151+7G>A single nucleotide variant Fanconi anemia [RCV001455479]|Fanconi anemia complementation group A [RCV002501596]|not provided [RCV003478841] Chr16:89771671 [GRCh38]
Chr16:89838079 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3720A>G (p.Glu1240=) single nucleotide variant Fanconi anemia [RCV001455490] Chr16:89742845 [GRCh38]
Chr16:89809253 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1317C>G single nucleotide variant Fanconi anemia [RCV001480391] Chr16:89739563 [GRCh38]
Chr16:89805971 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1065C>T (p.Leu355=) single nucleotide variant Fanconi anemia [RCV001480396] Chr16:89792489 [GRCh38]
Chr16:89858897 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1797C>A (p.Ser599=) single nucleotide variant Fanconi anemia [RCV001486676] Chr16:89778830 [GRCh38]
Chr16:89845238 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) single nucleotide variant Fanconi anemia [RCV001459495]|Fanconi anemia complementation group A [RCV002495661]|not specified [RCV003151324] Chr16:89771702 [GRCh38]
Chr16:89838110 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3846A>C (p.Pro1282=) single nucleotide variant Fanconi anemia [RCV001418212] Chr16:89740082 [GRCh38]
Chr16:89806490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.800_801dup (p.Asp268fs) duplication Fanconi anemia [RCV001385941] Chr16:89799629..89799630 [GRCh38]
Chr16:89866037..89866038 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2253dup (p.Thr752fs) duplication Fanconi anemia [RCV001388076] Chr16:89770228..89770229 [GRCh38]
Chr16:89836636..89836637 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*2551G>C single nucleotide variant Fanconi anemia [RCV001442173] Chr16:89740797 [GRCh38]
Chr16:89807205 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.826+9A>T single nucleotide variant Fanconi anemia [RCV001499596] Chr16:89799596 [GRCh38]
Chr16:89866004 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1233G>A (p.Val411=) single nucleotide variant Fanconi anemia [RCV001499835] Chr16:89791529 [GRCh38]
Chr16:89857937 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+7C>T single nucleotide variant Fanconi anemia [RCV001466613]|Fanconi anemia complementation group A [RCV002495682] Chr16:89749723 [GRCh38]
Chr16:89816131 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4176C>T (p.Pro1392=) single nucleotide variant Fanconi anemia [RCV001466645] Chr16:89738966 [GRCh38]
Chr16:89805374 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1758C>A (p.Ala586=) single nucleotide variant Fanconi anemia [RCV001469501] Chr16:89778961 [GRCh38]
Chr16:89845369 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.760A>C (p.Arg254=) single nucleotide variant Fanconi anemia [RCV001452658] Chr16:89803291 [GRCh38]
Chr16:89869699 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89816056)_(89816320_?)del deletion Fanconi anemia [RCV001383543] Chr16:89816056..89816320 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.283+9T>C single nucleotide variant FANCA-related condition [RCV003920981]|Fanconi anemia [RCV001462986]|not provided [RCV001800996] Chr16:89814511 [GRCh38]
Chr16:89880919 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3349-6_3349-5del deletion Fanconi anemia [RCV001463015] Chr16:89746895..89746896 [GRCh38]
Chr16:89813303..89813304 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1410G>C (p.Leu470=) single nucleotide variant Fanconi anemia [RCV001455844] Chr16:89784914 [GRCh38]
Chr16:89851322 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1389T>C (p.His463=) single nucleotide variant Fanconi anemia [RCV001500560]|not provided [RCV003478860] Chr16:89784935 [GRCh38]
Chr16:89851343 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3300C>T (p.Pro1100=) single nucleotide variant Fanconi anemia [RCV001465823] Chr16:89748707 [GRCh38]
Chr16:89815115 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+7T>C single nucleotide variant Fanconi anemia [RCV001471884] Chr16:89791920 [GRCh38]
Chr16:89858328 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.190-8G>C single nucleotide variant Fanconi anemia [RCV001474458] Chr16:89814621 [GRCh38]
Chr16:89881029 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+100A>G single nucleotide variant Fanconi anemia complementation group A [RCV001537686]|not provided [RCV001619948] Chr16:89770464 [GRCh38]
Chr16:89836872 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1826+99T>A single nucleotide variant Fanconi anemia complementation group A [RCV001537687]|not provided [RCV001658258] Chr16:89778702 [GRCh38]
Chr16:89845110 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1006+112G>A single nucleotide variant Fanconi anemia complementation group A [RCV001537725]|not provided [RCV001685453] Chr16:89795794 [GRCh38]
Chr16:89862202 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1701C>A (p.Thr567=) single nucleotide variant FANCA-related condition [RCV003980388]|Fanconi anemia [RCV001468389] Chr16:89779883 [GRCh38]
Chr16:89846291 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1725G>A (p.Arg575=) single nucleotide variant Fanconi anemia [RCV001493022]|not provided [RCV003478856] Chr16:89778994 [GRCh38]
Chr16:89845402 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4299C>T (p.Ser1433=) single nucleotide variant Fanconi anemia [RCV001493032]|not provided [RCV003478857] Chr16:89738670 [GRCh38]
Chr16:89805078 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2383A>C (p.Arg795=) single nucleotide variant Fanconi anemia [RCV001493045] Chr16:89769958 [GRCh38]
Chr16:89836366 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=) single nucleotide variant Fanconi anemia [RCV001453309] Chr16:89742838 [GRCh38]
Chr16:89809246 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.522+6dup duplication Fanconi anemia [RCV001484291] Chr16:89810698..89810699 [GRCh38]
Chr16:89877106..89877107 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3561A>G (p.Arg1187=) single nucleotide variant Fanconi anemia [RCV001504496]|not provided [RCV003478864] Chr16:89745024 [GRCh38]
Chr16:89811432 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.33G>C (p.Ser11=) single nucleotide variant Fanconi anemia [RCV001467071] Chr16:89816583 [GRCh38]
Chr16:89882991 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1311A>G (p.Ala437=) single nucleotide variant Fanconi anemia [RCV001487443] Chr16:89791451 [GRCh38]
Chr16:89857859 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1845A>G (p.Pro615=) single nucleotide variant Fanconi anemia [RCV001470276] Chr16:89775797 [GRCh38]
Chr16:89842205 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2277T>G (p.Pro759=) single nucleotide variant Fanconi anemia [RCV001415724] Chr16:89770205 [GRCh38]
Chr16:89836613 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89871693)_89878808del deletion Fanconi anemia [RCV001386419]   pathogenic
NM_000135.4(FANCA):c.3846A>G (p.Pro1282=) single nucleotide variant Fanconi anemia [RCV001406115] Chr16:89740082 [GRCh38]
Chr16:89806490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3783C>T (p.Phe1261=) single nucleotide variant Fanconi anemia [RCV001406116] Chr16:89740849 [GRCh38]
Chr16:89807257 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89828347)_(89839802_?)del deletion Fanconi anemia [RCV001383816] Chr16:89828347..89839802 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter) single nucleotide variant Fanconi anemia [RCV001383871] Chr16:89770183 [GRCh38]
Chr16:89836591 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1911G>A (p.Leu637=) single nucleotide variant Fanconi anemia [RCV001466227] Chr16:89773374 [GRCh38]
Chr16:89839782 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2548T>C single nucleotide variant Fanconi anemia [RCV001491838]|not specified [RCV001820192] Chr16:89740794 [GRCh38]
Chr16:89807202 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1777-10C>G single nucleotide variant Fanconi anemia [RCV001498349] Chr16:89778860 [GRCh38]
Chr16:89845268 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89809198)_(89833655_?)del deletion Fanconi anemia [RCV001383818] Chr16:89809198..89833655 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1986C>A (p.Ala662=) single nucleotide variant Fanconi anemia [RCV001456325] Chr16:89773299 [GRCh38]
Chr16:89839707 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1122T>C (p.His374=) single nucleotide variant Fanconi anemia [RCV001483659] Chr16:89792030 [GRCh38]
Chr16:89858438 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-10C>G single nucleotide variant Fanconi anemia [RCV001483833] Chr16:89745081 [GRCh38]
Chr16:89811489 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=) single nucleotide variant Fanconi anemia [RCV001472526] Chr16:89742926 [GRCh38]
Chr16:89809334 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.1225+10del deletion Fanconi anemia [RCV001518619] Chr16:89791917 [GRCh38]
Chr16:89858325 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1185C>G (p.Ala395=) single nucleotide variant Fanconi anemia [RCV001427107] Chr16:89791967 [GRCh38]
Chr16:89858375 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2010T>C (p.Arg670=) single nucleotide variant FANCA-related condition [RCV003965853]|Fanconi anemia [RCV001440322] Chr16:89773275 [GRCh38]
Chr16:89839683 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3558G>A (p.Arg1186=) single nucleotide variant Fanconi anemia [RCV001493437] Chr16:89745027 [GRCh38]
Chr16:89811435 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*737A>C single nucleotide variant Fanconi anemia [RCV001493459] Chr16:89738983 [GRCh38]
Chr16:89805391 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-4C>T single nucleotide variant Fanconi anemia [RCV001493460] Chr16:89742942 [GRCh38]
Chr16:89809350 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-7C>G single nucleotide variant Fanconi anemia [RCV001493567] Chr16:89773391 [GRCh38]
Chr16:89839799 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2904G>C (p.Ser968=) single nucleotide variant Fanconi anemia [RCV001438002] Chr16:89758654 [GRCh38]
Chr16:89825062 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2109G>A (p.Gln703=) single nucleotide variant Fanconi anemia [RCV001497594] Chr16:89771720 [GRCh38]
Chr16:89838128 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.710-8T>C single nucleotide variant Fanconi anemia [RCV001481255] Chr16:89803349 [GRCh38]
Chr16:89869757 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.589C>T (p.Leu197=) single nucleotide variant Fanconi anemia [RCV001469241] Chr16:89808301 [GRCh38]
Chr16:89874709 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3594G>A (p.Gln1198=) single nucleotide variant Fanconi anemia [RCV001498802] Chr16:89744991 [GRCh38]
Chr16:89811399 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.129A>G (p.Leu43=) single nucleotide variant Fanconi anemia [RCV001454153] Chr16:89815937 [GRCh38]
Chr16:89882345 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3870A>G (p.Ala1290=) single nucleotide variant Fanconi anemia [RCV001481896] Chr16:89740058 [GRCh38]
Chr16:89806466 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4011-3_4011-2del deletion Fanconi anemia [RCV003635958]|Fanconi anemia complementation group A [RCV001523812] Chr16:89739291..89739292 [GRCh38]
Chr16:89805699..89805700 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.606C>T (p.Asp202=) single nucleotide variant Fanconi anemia [RCV001427349] Chr16:89805383 [GRCh38]
Chr16:89871791 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3918T>C (p.Phe1306=) single nucleotide variant Fanconi anemia [RCV001429870] Chr16:89740010 [GRCh38]
Chr16:89806418 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89862304)_(89883024_?)del deletion Fanconi anemia [RCV001385951] Chr16:89862304..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89862294)_(89883023_?)del deletion Fanconi anemia [RCV001385952] Chr16:89862294..89883023 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3261G>A (p.Ser1087=) single nucleotide variant Fanconi anemia [RCV001440745]|not provided [RCV003478831] Chr16:89748746 [GRCh38]
Chr16:89815154 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1050G>A single nucleotide variant Fanconi anemia [RCV001402273] Chr16:89739296 [GRCh38]
Chr16:89805704 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.441C>T (p.Ser147=) single nucleotide variant Fanconi anemia [RCV001440937] Chr16:89810788 [GRCh38]
Chr16:89877196 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.48G>A (p.Gly16=) single nucleotide variant Fanconi anemia [RCV001446261] Chr16:89816568 [GRCh38]
Chr16:89882976 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=) single nucleotide variant Fanconi anemia [RCV001448779] Chr16:89738640 [GRCh38]
Chr16:89805048 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+143T>G single nucleotide variant Fanconi anemia complementation group A [RCV001537726]|not provided [RCV001692460] Chr16:89808151 [GRCh38]
Chr16:89874559 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*2404_*2408dup duplication not provided [RCV001537584] Chr16:89740636..89740637 [GRCh38]
Chr16:89807044..89807045 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3514-5C>A single nucleotide variant Fanconi anemia [RCV001426220] Chr16:89745076 [GRCh38]
Chr16:89811484 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89842140)_(89851382_?)del deletion Fanconi anemia [RCV001386081] Chr16:89842140..89851382 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3736C>T (p.Leu1246=) single nucleotide variant Fanconi anemia [RCV001439431] Chr16:89742829 [GRCh38]
Chr16:89809237 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2661C>T (p.Asp887=) single nucleotide variant Fanconi anemia [RCV001443471] Chr16:89765007 [GRCh38]
Chr16:89831415 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2151+9del deletion Fanconi anemia [RCV001411911] Chr16:89771669 [GRCh38]
Chr16:89838077 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.310A>C (p.Arg104=) single nucleotide variant Fanconi anemia [RCV001448660] Chr16:89811045 [GRCh38]
Chr16:89877453 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1314A>T (p.Ala438=) single nucleotide variant Fanconi anemia [RCV001425153] Chr16:89791448 [GRCh38]
Chr16:89857856 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs) duplication Fanconi anemia [RCV001380480] Chr16:89771774..89771775 [GRCh38]
Chr16:89838182..89838183 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2586A>C (p.Pro862=) single nucleotide variant Fanconi anemia [RCV001441133] Chr16:89767156 [GRCh38]
Chr16:89833564 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.709+9A>G single nucleotide variant Fanconi anemia [RCV001412096] Chr16:89805271 [GRCh38]
Chr16:89871679 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3279C>T (p.Ser1093=) single nucleotide variant FANCA-related condition [RCV003973249]|Fanconi anemia [RCV001412102] Chr16:89748728 [GRCh38]
Chr16:89815136 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter) single nucleotide variant Fanconi anemia [RCV001382301] Chr16:89765012 [GRCh38]
Chr16:89831420 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2778+9C>T single nucleotide variant Fanconi anemia [RCV001446309] Chr16:89764881 [GRCh38]
Chr16:89831289 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+1G>A single nucleotide variant Fanconi anemia [RCV001389759] Chr16:89749729 [GRCh38]
Chr16:89816137 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*737A>G single nucleotide variant Fanconi anemia [RCV001443952] Chr16:89738983 [GRCh38]
Chr16:89805391 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4251C>T (p.His1417=) single nucleotide variant Fanconi anemia [RCV001407293]|Fanconi anemia complementation group A [RCV002499872]|not provided [RCV003478818] Chr16:89738891 [GRCh38]
Chr16:89805299 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.576C>T (p.Ser192=) single nucleotide variant Fanconi anemia [RCV001446532] Chr16:89808314 [GRCh38]
Chr16:89874722 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) single nucleotide variant Fanconi anemia [RCV001417031]|Fanconi anemia complementation group A [RCV002499893]|not provided [RCV003478824] Chr16:89749825 [GRCh38]
Chr16:89816233 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2745C>A (p.Thr915=) single nucleotide variant Fanconi anemia [RCV001420066] Chr16:89764923 [GRCh38]
Chr16:89831331 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-4G>T single nucleotide variant Fanconi anemia [RCV001432774] Chr16:89746692 [GRCh38]
Chr16:89813100 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.792+8G>C single nucleotide variant Fanconi anemia [RCV001448925] Chr16:89803251 [GRCh38]
Chr16:89869659 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1380A>G (p.Arg460=) single nucleotide variant Fanconi anemia [RCV001402280] Chr16:89784944 [GRCh38]
Chr16:89851352 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89877105)_(89877489_?)del deletion Fanconi anemia [RCV001381338] Chr16:89877105..89877489 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89845199)_(89874785_?)del deletion Fanconi anemia [RCV001381339] Chr16:89845199..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1000C>T (p.Leu334=) single nucleotide variant Fanconi anemia [RCV001441216] Chr16:89795912 [GRCh38]
Chr16:89862320 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3075A>T (p.Val1025=) single nucleotide variant Fanconi anemia [RCV001441238]|not provided [RCV003478832] Chr16:89749894 [GRCh38]
Chr16:89816302 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1332G>A (p.Ala444=) single nucleotide variant Fanconi anemia [RCV001430448] Chr16:89791430 [GRCh38]
Chr16:89857838 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3228A>G (p.Leu1076=) single nucleotide variant Fanconi anemia [RCV001432958] Chr16:89749741 [GRCh38]
Chr16:89816149 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3273C>T (p.Cys1091=) single nucleotide variant Fanconi anemia [RCV001446557] Chr16:89748734 [GRCh38]
Chr16:89815142 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.393C>T (p.Thr131=) single nucleotide variant Fanconi anemia [RCV001449116] Chr16:89810962 [GRCh38]
Chr16:89877370 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3801C>G (p.Gly1267=) single nucleotide variant Fanconi anemia [RCV001449165]|not provided [RCV003478836] Chr16:89740831 [GRCh38]
Chr16:89807239 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3822C>T (p.Thr1274=) single nucleotide variant Fanconi anemia [RCV001400081] Chr16:89740810 [GRCh38]
Chr16:89807218 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3804G>A (p.Leu1268=) single nucleotide variant Fanconi anemia [RCV001438909] Chr16:89740828 [GRCh38]
Chr16:89807236 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2628C>T (p.Phe876=) single nucleotide variant Fanconi anemia [RCV001438916] Chr16:89765040 [GRCh38]
Chr16:89831448 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) single nucleotide variant Fanconi anemia [RCV001389972]|Fanconi anemia complementation group A [RCV003469766] Chr16:89749780 [GRCh38]
Chr16:89816188 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2532T>C (p.Ser844=) single nucleotide variant Fanconi anemia [RCV001441754] Chr16:89767210 [GRCh38]
Chr16:89833618 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-8T>C single nucleotide variant Fanconi anemia [RCV001444275] Chr16:89808375 [GRCh38]
Chr16:89874783 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.-1_2del (p.Met1del) deletion Fanconi anemia [RCV001383452] Chr16:89816614..89816616 [GRCh38]
Chr16:89883022..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89805009)_(89883024_?)del deletion Fanconi anemia [RCV001383539] Chr16:89805009..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89833539)_(89833655_?)del deletion Fanconi anemia [RCV001383540] Chr16:89833539..89833655 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.426+1G>A single nucleotide variant Fanconi anemia [RCV001379431]|Fanconi anemia complementation group A [RCV001780295] Chr16:89810928 [GRCh38]
Chr16:89877336 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3486A>G (p.Lys1162=) single nucleotide variant Fanconi anemia [RCV001439865] Chr16:89746611 [GRCh38]
Chr16:89813019 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1839C>A (p.Ile613=) single nucleotide variant Fanconi anemia [RCV001449381] Chr16:89775803 [GRCh38]
Chr16:89842211 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.354C>T (p.Ala118=) single nucleotide variant Fanconi anemia [RCV001402696] Chr16:89811001 [GRCh38]
Chr16:89877409 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.789G>A (p.Pro263=) single nucleotide variant Fanconi anemia [RCV001444318] Chr16:89803262 [GRCh38]
Chr16:89869670 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2928C>T (p.Asp976=) single nucleotide variant Fanconi anemia [RCV001446966] Chr16:89758630 [GRCh38]
Chr16:89825038 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1236G>A (p.Ala412=) single nucleotide variant Fanconi anemia [RCV001410300]|Fanconi anemia complementation group A [RCV002493967] Chr16:89791526 [GRCh38]
Chr16:89857934 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.792+1G>A single nucleotide variant Fanconi anemia [RCV001388440] Chr16:89803258 [GRCh38]
Chr16:89869666 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1566+10C>A single nucleotide variant Fanconi anemia [RCV001407660] Chr16:89782997 [GRCh38]
Chr16:89849405 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+14G>A single nucleotide variant Fanconi anemia [RCV001444328] Chr16:89808280 [GRCh38]
Chr16:89874688 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2088C>T (p.Ser696=) single nucleotide variant FANCA-related condition [RCV003900526]|Fanconi anemia [RCV001444334] Chr16:89771741 [GRCh38]
Chr16:89838149 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89880908)_(89883023_?)del deletion Fanconi anemia [RCV001380908] Chr16:89880908..89883023 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89807202)_(89883024_?)del deletion Fanconi anemia [RCV001380909] Chr16:89807202..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2242del (p.Leu748fs) deletion Fanconi anemia [RCV001390317] Chr16:89770240 [GRCh38]
Chr16:89836648 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.442C>T (p.Leu148=) single nucleotide variant Fanconi anemia [RCV001447083] Chr16:89810787 [GRCh38]
Chr16:89877195 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1662C>T (p.Ala554=) single nucleotide variant Fanconi anemia [RCV001447125] Chr16:89779922 [GRCh38]
Chr16:89846330 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1777-15C>T single nucleotide variant Fanconi anemia [RCV001410496] Chr16:89778865 [GRCh38]
Chr16:89845273 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1035G>A (p.Glu345=) single nucleotide variant Fanconi anemia [RCV001398159] Chr16:89792519 [GRCh38]
Chr16:89858927 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=) single nucleotide variant Fanconi anemia [RCV001399693]|Fanconi anemia complementation group A [RCV002499845] Chr16:89749777 [GRCh38]
Chr16:89816185 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.24C>T (p.Asn8=) single nucleotide variant Fanconi anemia [RCV001417406] Chr16:89816592 [GRCh38]
Chr16:89883000 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+9T>G single nucleotide variant Fanconi anemia [RCV001436172] Chr16:89782998 [GRCh38]
Chr16:89849406 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2151+7_2151+8inv inversion Fanconi anemia [RCV001398191] Chr16:89771670..89771671 [GRCh38]
Chr16:89838078..89838079 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1294del (p.Leu432fs) deletion Fanconi anemia [RCV001385308]|Fanconi anemia complementation group A [RCV001780347]|not provided [RCV001820084] Chr16:89791468 [GRCh38]
Chr16:89857876 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1567-15_1567-10del deletion Fanconi anemia [RCV001408036] Chr16:89782928..89782933 [GRCh38]
Chr16:89849336..89849341 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2853-10G>C single nucleotide variant Fanconi anemia [RCV001434261] Chr16:89758715 [GRCh38]
Chr16:89825123 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.12G>A (p.Ser4=) single nucleotide variant Fanconi anemia [RCV001426473] Chr16:89816604 [GRCh38]
Chr16:89883012 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2454T>C (p.Phe818=) single nucleotide variant Fanconi anemia [RCV001403207] Chr16:89769887 [GRCh38]
Chr16:89836295 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.357T>C (p.Ser119=) single nucleotide variant Fanconi anemia [RCV001428816] Chr16:89810998 [GRCh38]
Chr16:89877406 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-5C>T single nucleotide variant Fanconi anemia [RCV001444797] Chr16:89815991 [GRCh38]
Chr16:89882399 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1567-6C>T single nucleotide variant FANCA-related condition [RCV003930945]|Fanconi anemia [RCV001447360] Chr16:89782924 [GRCh38]
Chr16:89849332 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3390C>T (p.Ile1130=) single nucleotide variant Fanconi anemia [RCV001447398] Chr16:89746849 [GRCh38]
Chr16:89813257 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs) duplication Fanconi anemia [RCV001383918] Chr16:89740000..89740001 [GRCh38]
Chr16:89806408..89806409 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1140A>G (p.Glu380=) single nucleotide variant Fanconi anemia [RCV001434785] Chr16:89792012 [GRCh38]
Chr16:89858420 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89833539)_(89862436_?)del deletion Fanconi anemia [RCV001388737] Chr16:89833539..89862436 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89857801)_(89858965_?)del deletion Fanconi anemia [RCV001388738] Chr16:89857801..89858965 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89849257)_(89858965_?)del deletion Fanconi anemia [RCV001388739] Chr16:89849257..89858965 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89838076)_(89858965_?)del deletion Fanconi anemia [RCV001388740] Chr16:89838076..89858965 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1034_1040del (p.Glu345fs) deletion Fanconi anemia [RCV001390354] Chr16:89792514..89792520 [GRCh38]
Chr16:89858922..89858928 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2778+83C>T single nucleotide variant Fanconi anemia [RCV001408136] Chr16:89764807 [GRCh38]
Chr16:89831215 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.3150G>A (p.Glu1050=) single nucleotide variant Fanconi anemia [RCV001408217] Chr16:89749819 [GRCh38]
Chr16:89816227 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3297G>A (p.Gln1099=) single nucleotide variant Fanconi anemia [RCV001423507] Chr16:89748710 [GRCh38]
Chr16:89815118 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) single nucleotide variant Fanconi anemia [RCV001376747]|Fanconi anemia complementation group A [RCV001726536] Chr16:89791455 [GRCh38]
Chr16:89857863 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.793-10A>T single nucleotide variant Fanconi anemia [RCV001418790] Chr16:89799648 [GRCh38]
Chr16:89866056 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3195G>A (p.Val1065=) single nucleotide variant Fanconi anemia [RCV001429013] Chr16:89749774 [GRCh38]
Chr16:89816182 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-13G>T single nucleotide variant Fanconi anemia [RCV001444950] Chr16:89779970 [GRCh38]
Chr16:89846378 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.494C>T (p.Ser165Phe) single nucleotide variant Fanconi anemia [RCV001543111] Chr16:89810735 [GRCh38]
Chr16:89877143 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1731T>G (p.Pro577=) single nucleotide variant Fanconi anemia [RCV001398360] Chr16:89778988 [GRCh38]
Chr16:89845396 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-5C>A single nucleotide variant Fanconi anemia [RCV001423972] Chr16:89742943 [GRCh38]
Chr16:89809351 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1758C>T (p.Ala586=) single nucleotide variant Fanconi anemia [RCV001429456] Chr16:89778961 [GRCh38]
Chr16:89845369 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+10T>G single nucleotide variant Fanconi anemia [RCV001447493]|not provided [RCV001509532] Chr16:89769827 [GRCh38]
Chr16:89836235 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1084-10T>C single nucleotide variant Fanconi anemia [RCV001410799] Chr16:89792078 [GRCh38]
Chr16:89858486 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.483C>T (p.Phe161=) single nucleotide variant Fanconi anemia [RCV001445212]|Fanconi anemia complementation group A [RCV002501566]|not provided [RCV003416340] Chr16:89810746 [GRCh38]
Chr16:89877154 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-9C>G single nucleotide variant Fanconi anemia [RCV001425585] Chr16:89746899 [GRCh38]
Chr16:89813307 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89816056)_(89816320_?)dup duplication Fanconi anemia [RCV001378564] Chr16:89816056..89816320 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.57G>C (p.Arg19=) single nucleotide variant Fanconi anemia [RCV001442434]|Fanconi anemia complementation group A [RCV002501555] Chr16:89816559 [GRCh38]
Chr16:89882967 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1593C>T (p.Tyr531=) single nucleotide variant Fanconi anemia [RCV001401389]|not provided [RCV003426074] Chr16:89782892 [GRCh38]
Chr16:89849300 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4338T>C (p.Ala1446=) single nucleotide variant Fanconi anemia [RCV001401414] Chr16:89738631 [GRCh38]
Chr16:89805039 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+10C>T single nucleotide variant Fanconi anemia [RCV001442773] Chr16:89782997 [GRCh38]
Chr16:89849405 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-6C>T single nucleotide variant FANCA-related condition [RCV003965880]|Fanconi anemia [RCV001447952] Chr16:89792553 [GRCh38]
Chr16:89858961 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4011-1G>C single nucleotide variant Fanconi anemia [RCV001380733] Chr16:89739290 [GRCh38]
Chr16:89805698 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4029T>C (p.His1343=) single nucleotide variant Fanconi anemia [RCV001429625] Chr16:89739271 [GRCh38]
Chr16:89805679 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89804999)_(89825128_?)del deletion Fanconi anemia [RCV001388934] Chr16:89804999..89825128 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89811357)_(89818822_?)del deletion Fanconi anemia [RCV001388935] Chr16:89811357..89818822 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89805009)_(89818822_?)del deletion Fanconi anemia [RCV001388936] Chr16:89805009..89818822 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2676C>A (p.Ser892=) single nucleotide variant Fanconi anemia [RCV001442564]|not provided [RCV003478835] Chr16:89764992 [GRCh38]
Chr16:89831400 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3504C>A (p.Thr1168=) single nucleotide variant Fanconi anemia [RCV001447801] Chr16:89746593 [GRCh38]
Chr16:89813001 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.27C>T (p.Ser9=) single nucleotide variant Fanconi anemia [RCV001447828] Chr16:89816589 [GRCh38]
Chr16:89882997 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3480G>A (p.Gln1160=) single nucleotide variant Fanconi anemia [RCV001447844] Chr16:89746617 [GRCh38]
Chr16:89813025 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1557C>T (p.Ala519=) single nucleotide variant Fanconi anemia [RCV001447909] Chr16:89783016 [GRCh38]
Chr16:89849424 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3600A>G (p.Leu1200=) single nucleotide variant Fanconi anemia [RCV001411411] Chr16:89744985 [GRCh38]
Chr16:89811393 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2406T>C (p.Asp802=) single nucleotide variant Fanconi anemia [RCV001411431] Chr16:89769935 [GRCh38]
Chr16:89836343 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+1G>C single nucleotide variant Fanconi anemia [RCV001379921] Chr16:89808293 [GRCh38]
Chr16:89874701 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.612T>C (p.His204=) single nucleotide variant Fanconi anemia [RCV001404133] Chr16:89805377 [GRCh38]
Chr16:89871785 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+10C>G single nucleotide variant Fanconi anemia [RCV001427263] Chr16:89767131 [GRCh38]
Chr16:89833539 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter) single nucleotide variant Fanconi anemia [RCV001381966] Chr16:89803320 [GRCh38]
Chr16:89869728 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4060C>T (p.Leu1354=) single nucleotide variant Fanconi anemia [RCV001445680] Chr16:89739240 [GRCh38]
Chr16:89805648 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3342T>C (p.Ser1114=) single nucleotide variant Fanconi anemia [RCV001435176] Chr16:89748665 [GRCh38]
Chr16:89815073 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.93G>A (p.Lys31=) single nucleotide variant Fanconi anemia [RCV001425897] Chr16:89815973 [GRCh38]
Chr16:89882381 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3540G>A (p.Val1180=) single nucleotide variant Fanconi anemia [RCV001429801]|not specified [RCV001820124] Chr16:89745045 [GRCh38]
Chr16:89811453 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.9:g.(?_89845199)_(89866056_?)del deletion Fanconi anemia [RCV001389106] Chr16:89845199..89866056 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89842140)_(89866056_?)del deletion Fanconi anemia [RCV001389107] Chr16:89842140..89866056 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89839669)_(89866056_?)del deletion Fanconi anemia [RCV001389108] Chr16:89839669..89866056 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.80-4G>T single nucleotide variant Fanconi anemia [RCV001406387] Chr16:89815990 [GRCh38]
Chr16:89882398 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-2A>G single nucleotide variant Fanconi anemia [RCV001377504] Chr16:89779959 [GRCh38]
Chr16:89846367 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89818536)_(89828440_?)del deletion Fanconi anemia [RCV001377601] Chr16:89818536..89828440 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89811357)_(89815185_?)del deletion Fanconi anemia [RCV001377603] Chr16:89811357..89815185 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3627-4C>G single nucleotide variant Fanconi anemia [RCV001440693] Chr16:89742942 [GRCh38]
Chr16:89809350 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3324C>T (p.Phe1108=) single nucleotide variant Fanconi anemia [RCV001409219] Chr16:89748683 [GRCh38]
Chr16:89815091 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-9C>T single nucleotide variant Fanconi anemia [RCV001443036]|Fanconi anemia complementation group A [RCV002504727] Chr16:89742947 [GRCh38]
Chr16:89809355 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2482dup (p.Asp828fs) duplication Fanconi anemia [RCV001387266] Chr16:89769858..89769859 [GRCh38]
Chr16:89836266..89836267 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.150C>G (p.Leu50=) single nucleotide variant Fanconi anemia [RCV001432483] Chr16:89815916 [GRCh38]
Chr16:89882324 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.372C>A (p.Ile124=) single nucleotide variant Fanconi anemia [RCV001443487] Chr16:89810983 [GRCh38]
Chr16:89877391 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-215G>A single nucleotide variant not provided [RCV001527836] Chr16:89808582 [GRCh38]
Chr16:89874990 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1083+142G>A single nucleotide variant not provided [RCV001583618] Chr16:89792329 [GRCh38]
Chr16:89858737 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4071T>G (p.Ala1357=) single nucleotide variant Fanconi anemia [RCV001485860] Chr16:89739229 [GRCh38]
Chr16:89805637 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.795_796inv (p.Thr266Ala) inversion Fanconi anemia [RCV001490045] Chr16:89799635..89799636 [GRCh38]
Chr16:89866043..89866044 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1360-8C>T single nucleotide variant Fanconi anemia [RCV001479133] Chr16:89784972 [GRCh38]
Chr16:89851380 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.522+8T>A single nucleotide variant Fanconi anemia [RCV001502410] Chr16:89810699 [GRCh38]
Chr16:89877107 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427-6T>C single nucleotide variant Fanconi anemia [RCV001457874] Chr16:89810808 [GRCh38]
Chr16:89877216 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1663A>C (p.Ile555Leu) single nucleotide variant not provided [RCV001532333] Chr16:89779921 [GRCh38]
Chr16:89846329 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3240-11C>G single nucleotide variant Fanconi anemia [RCV002070285]|not provided [RCV001508801] Chr16:89748778 [GRCh38]
Chr16:89815186 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1470+305T>A single nucleotide variant not provided [RCV001710963] Chr16:89784549 [GRCh38]
Chr16:89850957 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3788T>C (p.Phe1263Ser) single nucleotide variant Fanconi anemia [RCV001615351] Chr16:89740844 [GRCh38]
Chr16:89807252 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3884T>C (p.Leu1295Ser) single nucleotide variant Fanconi anemia [RCV001615352] Chr16:89740044 [GRCh38]
Chr16:89806452 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4:c.710_894del deletion Fanconi anemia [RCV001615362]   likely pathogenic
NM_000135.4(FANCA):c.2265dup (p.Arg756fs) duplication Fanconi anemia [RCV001615366] Chr16:89770216..89770217 [GRCh38]
Chr16:89836624..89836625 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.826+2T>C single nucleotide variant Fanconi anemia [RCV001615381] Chr16:89799603 [GRCh38]
Chr16:89866011 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.3766-269C>T single nucleotide variant not provided [RCV001675457] Chr16:89741135 [GRCh38]
Chr16:89807543 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1007-193G>A single nucleotide variant not provided [RCV001653057] Chr16:89792740 [GRCh38]
Chr16:89859148 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.417G>C (p.Val139=) single nucleotide variant Fanconi anemia [RCV001495861] Chr16:89810938 [GRCh38]
Chr16:89877346 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2217G>C (p.Pro739=) single nucleotide variant Fanconi anemia [RCV001490745] Chr16:89770569 [GRCh38]
Chr16:89836977 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+263T>C single nucleotide variant not provided [RCV001614769] Chr16:89791140 [GRCh38]
Chr16:89857548 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3239+8C>T single nucleotide variant Fanconi anemia [RCV001450598] Chr16:89749722 [GRCh38]
Chr16:89816130 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1896A>G (p.Pro632=) single nucleotide variant Fanconi anemia [RCV001464948] Chr16:89775746 [GRCh38]
Chr16:89842154 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3795G>A (p.Leu1265=) single nucleotide variant Fanconi anemia [RCV001479390] Chr16:89740837 [GRCh38]
Chr16:89807245 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-62A>G single nucleotide variant not provided [RCV001715074] Chr16:89773446 [GRCh38]
Chr16:89839854 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.831A>G (p.Ala277=) single nucleotide variant Fanconi anemia [RCV001486213] Chr16:89799228 [GRCh38]
Chr16:89865636 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2316+13T>C single nucleotide variant Fanconi anemia [RCV003635960]|not provided [RCV001509533] Chr16:89770153 [GRCh38]
Chr16:89836561 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3765+8A>C single nucleotide variant Fanconi anemia [RCV001502626] Chr16:89742792 [GRCh38]
Chr16:89809200 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3240-225_3240-223del microsatellite not provided [RCV001648983] Chr16:89748990..89748992 [GRCh38]
Chr16:89815398..89815400 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2892C>T (p.Leu964=) single nucleotide variant Fanconi anemia [RCV001458665] Chr16:89758666 [GRCh38]
Chr16:89825074 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2852+10G>C single nucleotide variant Fanconi anemia [RCV001462142] Chr16:89761939 [GRCh38]
Chr16:89828347 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3414C>A (p.Leu1138=) single nucleotide variant Fanconi anemia [RCV001458009] Chr16:89746683 [GRCh38]
Chr16:89813091 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1587A>G (p.Gly529=) single nucleotide variant Fanconi anemia [RCV001483041] Chr16:89782898 [GRCh38]
Chr16:89849306 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2613C>A (p.Leu871=) single nucleotide variant Fanconi anemia [RCV001486694]|not provided [RCV003426148] Chr16:89765055 [GRCh38]
Chr16:89831463 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+205G>T single nucleotide variant not provided [RCV001588728] Chr16:89808089 [GRCh38]
Chr16:89874497 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427-10C>G single nucleotide variant Fanconi anemia [RCV001500128] Chr16:89810812 [GRCh38]
Chr16:89877220 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1929C>G (p.Pro643=) single nucleotide variant Fanconi anemia [RCV001500242] Chr16:89773356 [GRCh38]
Chr16:89839764 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-7_1901-5del deletion Fanconi anemia [RCV001486930] Chr16:89773389..89773391 [GRCh38]
Chr16:89839797..89839799 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2982-340A>T single nucleotide variant not provided [RCV001643860] Chr16:89752562 [GRCh38]
Chr16:89818970 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.522+8T>G single nucleotide variant Fanconi anemia [RCV001500035] Chr16:89810699 [GRCh38]
Chr16:89877107 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-150G>A single nucleotide variant not provided [RCV001695944] Chr16:89745221 [GRCh38]
Chr16:89811629 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3291A>G (p.Ala1097=) single nucleotide variant Fanconi anemia [RCV001459355] Chr16:89748716 [GRCh38]
Chr16:89815124 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1123T>C (p.Leu375=) single nucleotide variant Fanconi anemia [RCV001500327] Chr16:89792029 [GRCh38]
Chr16:89858437 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2778+7G>A single nucleotide variant Fanconi anemia [RCV001503636] Chr16:89764883 [GRCh38]
Chr16:89831291 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3117C>G (p.Gly1039=) single nucleotide variant Fanconi anemia [RCV001476884] Chr16:89749852 [GRCh38]
Chr16:89816260 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-8C>G single nucleotide variant Fanconi anemia [RCV001487026] Chr16:89770642 [GRCh38]
Chr16:89837050 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=) single nucleotide variant Fanconi anemia [RCV001487035]|Fanconi anemia complementation group A [RCV002501673] Chr16:89740810 [GRCh38]
Chr16:89807218 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-164C>T single nucleotide variant not provided [RCV001691554] Chr16:89816150 [GRCh38]
Chr16:89882558 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3513+139_3513+140del microsatellite not provided [RCV001680394] Chr16:89746444..89746445 [GRCh38]
Chr16:89812852..89812853 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3626+158G>A single nucleotide variant not provided [RCV001716389] Chr16:89744801 [GRCh38]
Chr16:89811209 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*1140A>G single nucleotide variant not provided [RCV001686529] Chr16:89739386 [GRCh38]
Chr16:89805794 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2015-8C>T single nucleotide variant Fanconi anemia [RCV001466304] Chr16:89771822 [GRCh38]
Chr16:89838230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.522+152C>G single nucleotide variant not provided [RCV001673658] Chr16:89810555 [GRCh38]
Chr16:89876963 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2317-7G>A single nucleotide variant Fanconi anemia [RCV001470175] Chr16:89770031 [GRCh38]
Chr16:89836439 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.710-298dup duplication not provided [RCV001713737] Chr16:89803624..89803625 [GRCh38]
Chr16:89870032..89870033 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1901-9T>C single nucleotide variant Fanconi anemia [RCV001476844]|not provided [RCV002476788] Chr16:89773393 [GRCh38]
Chr16:89839801 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2316+67A>G single nucleotide variant Fanconi anemia complementation group A [RCV001537683]|not provided [RCV001615257] Chr16:89770099 [GRCh38]
Chr16:89836507 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2222+107T>C single nucleotide variant Fanconi anemia complementation group A [RCV001537685]|not provided [RCV001615258] Chr16:89770457 [GRCh38]
Chr16:89836865 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.596+74G>A single nucleotide variant Fanconi anemia complementation group A [RCV001537727]|not provided [RCV001647379] Chr16:89808220 [GRCh38]
Chr16:89874628 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.523-258C>A single nucleotide variant not provided [RCV001715480] Chr16:89808625 [GRCh38]
Chr16:89875033 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.3067-10T>C single nucleotide variant Fanconi anemia [RCV001483776] Chr16:89749912 [GRCh38]
Chr16:89816320 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.10:g.89816800T>C single nucleotide variant not provided [RCV001685121] Chr16:89816800 [GRCh38]
Chr16:89883208 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.36C>G (p.Gly12=) single nucleotide variant Fanconi anemia [RCV001466789] Chr16:89816580 [GRCh38]
Chr16:89882988 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3615G>A (p.Gln1205=) single nucleotide variant Fanconi anemia [RCV001487898] Chr16:89744970 [GRCh38]
Chr16:89811378 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-10T>C single nucleotide variant Fanconi anemia [RCV001487934] Chr16:89811081 [GRCh38]
Chr16:89877489 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3969C>T (p.Ala1323=) single nucleotide variant Fanconi anemia [RCV001477226]|not provided [RCV003478852] Chr16:89739519 [GRCh38]
Chr16:89805927 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.147C>T (p.Arg49=) single nucleotide variant Fanconi anemia [RCV001497931] Chr16:89815919 [GRCh38]
Chr16:89882327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1920G>A (p.Arg640=) single nucleotide variant Fanconi anemia [RCV001498025] Chr16:89773365 [GRCh38]
Chr16:89839773 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1777-10C>A single nucleotide variant Fanconi anemia [RCV001456501] Chr16:89778860 [GRCh38]
Chr16:89845268 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1715+16G>A single nucleotide variant Fanconi anemia [RCV001504463] Chr16:89779853 [GRCh38]
Chr16:89846261 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+224C>T single nucleotide variant not provided [RCV001682476] Chr16:89808070 [GRCh38]
Chr16:89874478 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.1089T>C (p.Phe363=) single nucleotide variant Fanconi anemia [RCV001460349] Chr16:89792063 [GRCh38]
Chr16:89858471 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2286C>T (p.Leu762=) single nucleotide variant Fanconi anemia [RCV001500930]|Fanconi anemia complementation group A [RCV002506580] Chr16:89770196 [GRCh38]
Chr16:89836604 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3153T>C (p.Ile1051=) single nucleotide variant Fanconi anemia [RCV001500940] Chr16:89749816 [GRCh38]
Chr16:89816224 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2142G>A (p.Arg714=) single nucleotide variant Fanconi anemia [RCV001480840] Chr16:89771687 [GRCh38]
Chr16:89838095 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-10T>G single nucleotide variant Fanconi anemia [RCV001480841]|not provided [RCV003481112] Chr16:89779013 [GRCh38]
Chr16:89845421 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3960C>T (p.Leu1320=) single nucleotide variant Fanconi anemia [RCV001478160] Chr16:89739528 [GRCh38]
Chr16:89805936 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3507T>C (p.Ser1169=) single nucleotide variant Fanconi anemia [RCV001478235] Chr16:89746590 [GRCh38]
Chr16:89812998 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2700T>G (p.Ser900=) single nucleotide variant FANCA-related condition [RCV003948457]|Fanconi anemia [RCV001498378] Chr16:89764968 [GRCh38]
Chr16:89831376 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.6C>T (p.Ser2=) single nucleotide variant Fanconi anemia [RCV001460793] Chr16:89816610 [GRCh38]
Chr16:89883018 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.861G>A (p.Glu287=) single nucleotide variant Fanconi anemia [RCV001460536] Chr16:89799198 [GRCh38]
Chr16:89865606 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.657A>G (p.Glu219=) single nucleotide variant Fanconi anemia [RCV001460615] Chr16:89805332 [GRCh38]
Chr16:89871740 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1392C>T (p.Gly464=) single nucleotide variant Fanconi anemia [RCV001463695] Chr16:89784932 [GRCh38]
Chr16:89851340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-342A>G single nucleotide variant not provided [RCV001665902] Chr16:89745413 [GRCh38]
Chr16:89811821 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.893+263A>G single nucleotide variant not provided [RCV001592212] Chr16:89798903 [GRCh38]
Chr16:89865311 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1857T>A single nucleotide variant Fanconi anemia [RCV001460920]|not provided [RCV003478847] Chr16:89740103 [GRCh38]
Chr16:89806511 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.132G>A (p.Lys44=) single nucleotide variant Fanconi anemia [RCV001484610] Chr16:89815934 [GRCh38]
Chr16:89882342 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-61del deletion not provided [RCV001716271] Chr16:89792608 [GRCh38]
Chr16:89859016 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.336C>G (p.Leu112=) single nucleotide variant FANCA-related condition [RCV003900629]|Fanconi anemia [RCV001471960] Chr16:89811019 [GRCh38]
Chr16:89877427 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3061T>C (p.Leu1021=) single nucleotide variant Fanconi anemia [RCV001501627] Chr16:89752143 [GRCh38]
Chr16:89818551 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3626+10G>C single nucleotide variant Fanconi anemia [RCV001417380] Chr16:89744949 [GRCh38]
Chr16:89811357 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1521C>T (p.Leu507=) single nucleotide variant Fanconi anemia [RCV001472760] Chr16:89783052 [GRCh38]
Chr16:89849460 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1059T>A (p.Pro353=) single nucleotide variant Fanconi anemia [RCV001402859] Chr16:89792495 [GRCh38]
Chr16:89858903 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4362C>T (p.Leu1454=) single nucleotide variant Fanconi anemia [RCV001450881] Chr16:89738607 [GRCh38]
Chr16:89805015 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1923A>C (p.Ala641=) single nucleotide variant Fanconi anemia [RCV001460113] Chr16:89773362 [GRCh38]
Chr16:89839770 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2226G>A (p.Gln742=) single nucleotide variant Fanconi anemia [RCV001456797] Chr16:89770256 [GRCh38]
Chr16:89836664 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3348+8C>T single nucleotide variant Fanconi anemia [RCV001436015] Chr16:89748651 [GRCh38]
Chr16:89815059 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+7C>G single nucleotide variant Fanconi anemia [RCV001502899] Chr16:89746577 [GRCh38]
Chr16:89812985 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1316C>G single nucleotide variant Fanconi anemia [RCV001436272] Chr16:89739562 [GRCh38]
Chr16:89805970 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3657A>T (p.Ala1219=) single nucleotide variant Fanconi anemia [RCV001469591] Chr16:89742908 [GRCh38]
Chr16:89809316 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) deletion Fanconi anemia [RCV001377928]|Fanconi anemia complementation group A [RCV002499780]|not provided [RCV003883621] Chr16:89740839..89740841 [GRCh38]
Chr16:89807247..89807249 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001113525.2(ZNF276):c.*736G>C single nucleotide variant Fanconi anemia [RCV001435819] Chr16:89738982 [GRCh38]
Chr16:89805390 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2551G>A single nucleotide variant Fanconi anemia [RCV001427032] Chr16:89740797 [GRCh38]
Chr16:89807205 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2244del (p.Phe749fs) deletion Fanconi anemia [RCV001387976] Chr16:89770238 [GRCh38]
Chr16:89836646 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1959C>T (p.Leu653=) single nucleotide variant Fanconi anemia [RCV001439365] Chr16:89773326 [GRCh38]
Chr16:89839734 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2481G>A (p.Arg827=) single nucleotide variant FANCA-related condition [RCV003930919]|Fanconi anemia [RCV001431336]|Fanconi anemia complementation group A [RCV002501527] Chr16:89769860 [GRCh38]
Chr16:89836268 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-5T>C single nucleotide variant Fanconi anemia [RCV001450610] Chr16:89746895 [GRCh38]
Chr16:89813303 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2015-2A>C single nucleotide variant Fanconi anemia [RCV001379771] Chr16:89771816 [GRCh38]
Chr16:89838224 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1437A>G (p.Glu479=) single nucleotide variant FANCA-related condition [RCV003965884]|Fanconi anemia [RCV001451047] Chr16:89784887 [GRCh38]
Chr16:89851295 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.3(FANCA):c.-33G>A single nucleotide variant not provided [RCV001509541] Chr16:89816648 [GRCh38]
Chr16:89883056 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) single nucleotide variant FANCA-related condition [RCV003966049]|Fanconi anemia [RCV001509687]|Fanconi anemia complementation group A [RCV002501745]|not provided [RCV003416376]|not specified [RCV001821806] Chr16:89746677 [GRCh38]
Chr16:89813085 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.283+9T>G single nucleotide variant Fanconi anemia [RCV001479885] Chr16:89814511 [GRCh38]
Chr16:89880919 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3543G>C (p.Leu1181=) single nucleotide variant Fanconi anemia [RCV001503031] Chr16:89745042 [GRCh38]
Chr16:89811450 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-6C>T single nucleotide variant Fanconi anemia [RCV001470500] Chr16:89805398 [GRCh38]
Chr16:89871806 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2852+8T>C single nucleotide variant Fanconi anemia [RCV001476921] Chr16:89761941 [GRCh38]
Chr16:89828349 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1833T>C (p.Asp611=) single nucleotide variant Fanconi anemia [RCV001439863] Chr16:89775809 [GRCh38]
Chr16:89842217 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4176C>G (p.Pro1392=) single nucleotide variant Fanconi anemia [RCV001503133] Chr16:89738966 [GRCh38]
Chr16:89805374 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.96G>A (p.Arg32=) single nucleotide variant Fanconi anemia [RCV001469237] Chr16:89815970 [GRCh38]
Chr16:89882378 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-9C>G single nucleotide variant FANCA-related condition [RCV003946126]|Fanconi anemia [RCV001429127]|not provided [RCV002261363] Chr16:89746697 [GRCh38]
Chr16:89813105 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2121C>T (p.Asn707=) single nucleotide variant Fanconi anemia [RCV001465837] Chr16:89771708 [GRCh38]
Chr16:89838116 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4254G>C (p.Val1418=) single nucleotide variant Fanconi anemia [RCV001470955] Chr16:89738888 [GRCh38]
Chr16:89805296 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-8C>T single nucleotide variant Fanconi anemia [RCV001471135] Chr16:89745079 [GRCh38]
Chr16:89811487 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.894-9C>T single nucleotide variant Fanconi anemia [RCV001498783] Chr16:89796027 [GRCh38]
Chr16:89862435 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2247C>T (p.Phe749=) single nucleotide variant Fanconi anemia [RCV001451558]|Fanconi anemia complementation group A [RCV002495639] Chr16:89770235 [GRCh38]
Chr16:89836643 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2085C>T (p.Ser695=) single nucleotide variant Fanconi anemia [RCV001478068] Chr16:89771744 [GRCh38]
Chr16:89838152 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.190-5T>C single nucleotide variant Fanconi anemia [RCV001453532] Chr16:89814618 [GRCh38]
Chr16:89881026 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-6C>T single nucleotide variant Fanconi anemia [RCV001481785] Chr16:89799238 [GRCh38]
Chr16:89865646 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.946C>T (p.Leu316=) single nucleotide variant Fanconi anemia [RCV001481793] Chr16:89795966 [GRCh38]
Chr16:89862374 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.69C>T (p.Ala23=) single nucleotide variant Fanconi anemia [RCV001488826] Chr16:89816547 [GRCh38]
Chr16:89882955 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3282C>T (p.Ser1094=) single nucleotide variant Fanconi anemia [RCV001452923] Chr16:89748725 [GRCh38]
Chr16:89815133 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=) single nucleotide variant Fanconi anemia [RCV001406419] Chr16:89746614 [GRCh38]
Chr16:89813022 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1461G>C (p.Arg487=) single nucleotide variant Fanconi anemia [RCV001406422] Chr16:89784863 [GRCh38]
Chr16:89851271 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2844T>C (p.Asp948=) single nucleotide variant Fanconi anemia [RCV001481918] Chr16:89761957 [GRCh38]
Chr16:89828365 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2463C>G (p.Leu821=) single nucleotide variant Fanconi anemia [RCV001467619] Chr16:89769878 [GRCh38]
Chr16:89836286 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3255G>A (p.Leu1085=) single nucleotide variant Fanconi anemia [RCV001392878] Chr16:89748752 [GRCh38]
Chr16:89815160 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2832dup (p.Ala945fs) duplication Fanconi anemia [RCV001383442] Chr16:89761968..89761969 [GRCh38]
Chr16:89828376..89828377 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89842140)_(89842233_?)del deletion Fanconi anemia [RCV001383541] Chr16:89842140..89842233 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1872C>T (p.Ala624=) single nucleotide variant Fanconi anemia [RCV001451896] Chr16:89775770 [GRCh38]
Chr16:89842178 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3888G>A (p.Glu1296=) single nucleotide variant Fanconi anemia [RCV001461710] Chr16:89740040 [GRCh38]
Chr16:89806448 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2859C>T (p.Asp953=) single nucleotide variant FANCA-related condition [RCV003956012]|Fanconi anemia [RCV001461791] Chr16:89758699 [GRCh38]
Chr16:89825107 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89824975)_(89831484_?)del deletion Fanconi anemia [RCV001388933] Chr16:89824975..89831484 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4008C>T (p.Tyr1336=) single nucleotide variant Fanconi anemia [RCV001443198] Chr16:89739480 [GRCh38]
Chr16:89805888 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter) single nucleotide variant Fanconi anemia [RCV001383443]|Fanconi anemia complementation group A [RCV003462991] Chr16:89792008 [GRCh38]
Chr16:89858416 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3900A>C (p.Ile1300=) single nucleotide variant Fanconi anemia [RCV001392924] Chr16:89740028 [GRCh38]
Chr16:89806436 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89880918)_(89881031_?)del deletion Fanconi anemia [RCV001383542] Chr16:89880918..89881031 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3651C>T (p.Ser1217=) single nucleotide variant Fanconi anemia [RCV001417534] Chr16:89742914 [GRCh38]
Chr16:89809322 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1068C>A (p.Thr356=) single nucleotide variant Fanconi anemia [RCV001505203] Chr16:89792486 [GRCh38]
Chr16:89858894 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2316+7C>G single nucleotide variant Fanconi anemia [RCV001434464]|not specified [RCV003151317] Chr16:89770159 [GRCh38]
Chr16:89836567 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.990C>T (p.His330=) single nucleotide variant Fanconi anemia [RCV001453437] Chr16:89795922 [GRCh38]
Chr16:89862330 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1777-4A>G single nucleotide variant Fanconi anemia [RCV001432427] Chr16:89778854 [GRCh38]
Chr16:89845262 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2034A>G (p.Ala678=) single nucleotide variant Fanconi anemia [RCV001461383] Chr16:89771795 [GRCh38]
Chr16:89838203 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-9C>T single nucleotide variant Fanconi anemia [RCV001478768] Chr16:89762031 [GRCh38]
Chr16:89828439 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89828179)_89838178del deletion Fanconi anemia [RCV001378565]   likely pathogenic
NM_000135.4(FANCA):c.1809T>C (p.Phe603=) single nucleotide variant Fanconi anemia [RCV001483446] Chr16:89778818 [GRCh38]
Chr16:89845226 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.21G>A (p.Pro7=) single nucleotide variant Fanconi anemia [RCV001503644] Chr16:89816595 [GRCh38]
Chr16:89883003 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.177C>A (p.Ala59=) single nucleotide variant Fanconi anemia [RCV001438509] Chr16:89815889 [GRCh38]
Chr16:89882297 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3075A>G (p.Val1025=) single nucleotide variant Fanconi anemia [RCV001423353] Chr16:89749894 [GRCh38]
Chr16:89816302 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2064G>C (p.Leu688=) single nucleotide variant Fanconi anemia [RCV001463345] Chr16:89771765 [GRCh38]
Chr16:89838173 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3945G>C (p.Leu1315=) single nucleotide variant FANCA-related condition [RCV003953763]|Fanconi anemia [RCV001415908] Chr16:89739543 [GRCh38]
Chr16:89805951 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1827-4C>G single nucleotide variant Fanconi anemia [RCV001418104] Chr16:89775819 [GRCh38]
Chr16:89842227 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3621C>T (p.Ala1207=) single nucleotide variant Fanconi anemia [RCV001400599] Chr16:89744964 [GRCh38]
Chr16:89811372 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3841C>T (p.Leu1281=) single nucleotide variant Fanconi anemia [RCV001427977] Chr16:89740087 [GRCh38]
Chr16:89806495 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-1G>T single nucleotide variant Fanconi anemia [RCV001376768] Chr16:89762023 [GRCh38]
Chr16:89828431 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89802587)_89816264del deletion Fanconi anemia [RCV001378566]   likely pathogenic
NM_001113525.2(ZNF276):c.*1224G>A single nucleotide variant Fanconi anemia [RCV001454629] Chr16:89739470 [GRCh38]
Chr16:89805878 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3067-2A>G single nucleotide variant Fanconi anemia [RCV001377023] Chr16:89749904 [GRCh38]
Chr16:89816312 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001113525.2(ZNF276):c.*466T>A single nucleotide variant Fanconi anemia [RCV001398343] Chr16:89738712 [GRCh38]
Chr16:89805120 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-4G>A single nucleotide variant Fanconi anemia [RCV001398379] Chr16:89815990 [GRCh38]
Chr16:89882398 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2922C>T (p.Asp974=) single nucleotide variant Fanconi anemia [RCV001434873]|not provided [RCV003405661] Chr16:89758636 [GRCh38]
Chr16:89825044 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1806G>C (p.Ala602=) single nucleotide variant Fanconi anemia [RCV001483699] Chr16:89778821 [GRCh38]
Chr16:89845229 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89842140)_(89846375_?)del deletion Fanconi anemia [RCV001386084] Chr16:89842140..89846375 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89824975)_(89842233_?)del deletion Fanconi anemia [RCV001383815] Chr16:89824975..89842233 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89818536)_(89839802_?)del deletion Fanconi anemia [RCV001383817] Chr16:89818536..89839802 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4152G>A (p.Leu1384=) single nucleotide variant Fanconi anemia [RCV001419879] Chr16:89739148 [GRCh38]
Chr16:89805556 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3837A>G (p.Thr1279=) single nucleotide variant Fanconi anemia [RCV001427675] Chr16:89740091 [GRCh38]
Chr16:89806499 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1779C>T (p.Leu593=) single nucleotide variant Fanconi anemia [RCV001407289] Chr16:89778848 [GRCh38]
Chr16:89845256 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89864654)_(89883033_?)del deletion Fanconi anemia [RCV001385950] Chr16:89864654..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2280A>G (p.Ala760=) single nucleotide variant Fanconi anemia [RCV001418326] Chr16:89770202 [GRCh38]
Chr16:89836610 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+7G>A single nucleotide variant Fanconi anemia [RCV001418346] Chr16:89791396 [GRCh38]
Chr16:89857804 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3448C>T (p.Leu1150=) single nucleotide variant Fanconi anemia [RCV001426544] Chr16:89746649 [GRCh38]
Chr16:89813057 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2634G>A (p.Glu878=) single nucleotide variant Fanconi anemia [RCV001402454] Chr16:89765034 [GRCh38]
Chr16:89831442 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.945T>C (p.Pro315=) single nucleotide variant Fanconi anemia [RCV001418340] Chr16:89795967 [GRCh38]
Chr16:89862375 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1743C>T (p.Ser581=) single nucleotide variant Fanconi anemia [RCV001420113] Chr16:89778976 [GRCh38]
Chr16:89845384 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1821G>C (p.Leu607=) single nucleotide variant Fanconi anemia [RCV001441283] Chr16:89778806 [GRCh38]
Chr16:89845214 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2187C>T (p.Asn729=) single nucleotide variant Fanconi anemia [RCV001480843] Chr16:89770599 [GRCh38]
Chr16:89837007 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) single nucleotide variant Fanconi anemia [RCV001379113]|not provided [RCV003442878] Chr16:89746847 [GRCh38]
Chr16:89813255 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.2970T>C (p.Asp990=) single nucleotide variant Fanconi anemia [RCV001483928] Chr16:89758588 [GRCh38]
Chr16:89824996 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3336C>G (p.Val1112=) single nucleotide variant Fanconi anemia [RCV001504085] Chr16:89748671 [GRCh38]
Chr16:89815079 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2853-4C>A single nucleotide variant Fanconi anemia [RCV001437569]|Fanconi anemia complementation group A [RCV002504722] Chr16:89758709 [GRCh38]
Chr16:89825117 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427-8C>G single nucleotide variant Fanconi anemia [RCV001437576] Chr16:89810810 [GRCh38]
Chr16:89877218 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) deletion Fanconi anemia [RCV002568228]|Fanconi anemia complementation group A [RCV001536024] Chr16:89775783..89775792 [GRCh38]
Chr16:89842191..89842200 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.9:g.(?_89849257)_(89849520_?)del deletion Fanconi anemia [RCV001386082] Chr16:89849257..89849520 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89845199)_(89849520_?)del deletion Fanconi anemia [RCV001386083] Chr16:89845199..89849520 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2472T>C (p.Cys824=) single nucleotide variant Fanconi anemia [RCV001402382] Chr16:89769869 [GRCh38]
Chr16:89836277 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3387C>T (p.Asp1129=) single nucleotide variant Fanconi anemia [RCV001494546] Chr16:89746852 [GRCh38]
Chr16:89813260 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1218G>A (p.Leu406=) single nucleotide variant Fanconi anemia [RCV001459661] Chr16:89791934 [GRCh38]
Chr16:89858342 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.633C>T (p.Phe211=) single nucleotide variant Fanconi anemia [RCV001398961] Chr16:89805356 [GRCh38]
Chr16:89871764 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-10C>T single nucleotide variant Fanconi anemia [RCV001489199] Chr16:89745081 [GRCh38]
Chr16:89811489 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2466G>T (p.Leu822=) single nucleotide variant Fanconi anemia [RCV001489414] Chr16:89769875 [GRCh38]
Chr16:89836283 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.184del (p.Glu63fs) deletion Fanconi anemia [RCV001380592] Chr16:89815882 [GRCh38]
Chr16:89882290 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs) deletion Fanconi anemia [RCV001389941] Chr16:89749830..89749857 [GRCh38]
Chr16:89816238..89816265 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4084T>C (p.Leu1362=) single nucleotide variant Fanconi anemia [RCV001405123] Chr16:89739216 [GRCh38]
Chr16:89805624 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.558C>T (p.His186=) single nucleotide variant Fanconi anemia [RCV001405201]|Fanconi anemia complementation group A [RCV002488220] Chr16:89808332 [GRCh38]
Chr16:89874740 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-7T>C single nucleotide variant Fanconi anemia [RCV001452622] Chr16:89745078 [GRCh38]
Chr16:89811486 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1006+10G>T single nucleotide variant Fanconi anemia [RCV001477194] Chr16:89795896 [GRCh38]
Chr16:89862304 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3768A>G (p.Leu1256=) single nucleotide variant FANCA-related condition [RCV003938826]|Fanconi anemia [RCV001462236] Chr16:89740864 [GRCh38]
Chr16:89807272 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+9C>T single nucleotide variant Fanconi anemia [RCV001499711] Chr16:89799157 [GRCh38]
Chr16:89865565 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1862C>A single nucleotide variant Fanconi anemia [RCV001502708] Chr16:89740108 [GRCh38]
Chr16:89806516 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2022G>A (p.Ser674=) single nucleotide variant Fanconi anemia [RCV001485581]|Fanconi anemia complementation group A [RCV002506559] Chr16:89771807 [GRCh38]
Chr16:89838215 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1083+120G>A single nucleotide variant Fanconi anemia complementation group A [RCV001537724]|not provided [RCV001615259] Chr16:89792351 [GRCh38]
Chr16:89858759 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.9:g.(?_89804999)_(89871810_?)del deletion Fanconi anemia [RCV001377604] Chr16:89804999..89871810 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1854C>T (p.Tyr618=) single nucleotide variant Fanconi anemia [RCV001418843] Chr16:89775788 [GRCh38]
Chr16:89842196 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*472A>G single nucleotide variant Fanconi anemia [RCV001428406] Chr16:89738718 [GRCh38]
Chr16:89805126 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2317-4G>A single nucleotide variant Fanconi anemia [RCV001430900] Chr16:89770028 [GRCh38]
Chr16:89836436 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.969C>G (p.Thr323=) single nucleotide variant Fanconi anemia [RCV001477242]|not provided [RCV003478853] Chr16:89795943 [GRCh38]
Chr16:89862351 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3393T>G (p.Thr1131=) single nucleotide variant Fanconi anemia [RCV001452775] Chr16:89746846 [GRCh38]
Chr16:89813254 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2160C>T (p.Asp720=) single nucleotide variant Fanconi anemia [RCV001501407] Chr16:89770626 [GRCh38]
Chr16:89837034 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2820A>G (p.Gln940=) single nucleotide variant FANCA-related condition [RCV003900605]|Fanconi anemia [RCV001465242] Chr16:89761981 [GRCh38]
Chr16:89828389 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1386C>T (p.Tyr462=) single nucleotide variant Fanconi anemia [RCV001502803] Chr16:89784938 [GRCh38]
Chr16:89851346 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2517A>G (p.Ala839=) single nucleotide variant Fanconi anemia [RCV001466905] Chr16:89767225 [GRCh38]
Chr16:89833633 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2307C>A (p.Leu769=) single nucleotide variant Fanconi anemia [RCV001468386] Chr16:89770175 [GRCh38]
Chr16:89836583 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2827G>C (p.Ala943Pro) single nucleotide variant not specified [RCV002247815] Chr16:89761974 [GRCh38]
Chr16:89828382 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter) single nucleotide variant Fanconi anemia [RCV003108462] Chr16:89815969 [GRCh38]
Chr16:89882377 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2602-12T>A single nucleotide variant Fanconi anemia [RCV003108989] Chr16:89765078 [GRCh38]
Chr16:89831486 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.427-12C>T single nucleotide variant Fanconi anemia [RCV003108997] Chr16:89810814 [GRCh38]
Chr16:89877222 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*768dup duplication not provided [RCV002244373] Chr16:89739013..89739014 [GRCh38]
Chr16:89805421..89805422 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(89831475_89833548)_(89883066_?)del deletion Fanconi anemia [RCV002238552] Chr16:89833548..89883066 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1348G>C (p.Asp450His) single nucleotide variant Fanconi anemia [RCV003108748]|not provided [RCV003477056] Chr16:89791414 [GRCh38]
Chr16:89857822 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*475A>T single nucleotide variant Fanconi anemia [RCV002255253] Chr16:89738721 [GRCh38]
Chr16:89805129 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-8C>T single nucleotide variant Fanconi anemia [RCV002257097] Chr16:89770267 [GRCh38]
Chr16:89836675 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.189+3A>G single nucleotide variant Fanconi anemia [RCV003107011] Chr16:89815874 [GRCh38]
Chr16:89882282 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.337_338del (p.Ala114fs) microsatellite Fanconi anemia [RCV002258493] Chr16:89811017..89811018 [GRCh38]
Chr16:89877425..89877426 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) single nucleotide variant Fanconi anemia [RCV002258494]|Fanconi anemia complementation group A [RCV002488641] Chr16:89738675 [GRCh38]
Chr16:89805083 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.2204G>T (p.Ser735Ile) single nucleotide variant Fanconi anemia [RCV003109103] Chr16:89770582 [GRCh38]
Chr16:89836990 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2201C>T (p.Ser734Phe) single nucleotide variant not provided [RCV001727016] Chr16:89770585 [GRCh38]
Chr16:89836993 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1715+3_1715+13del deletion Fanconi anemia complementation group A [RCV001726535] Chr16:89779856..89779866 [GRCh38]
Chr16:89846264..89846274 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.579G>T (p.Leu193=) single nucleotide variant Fanconi anemia [RCV003104612] Chr16:89808311 [GRCh38]
Chr16:89874719 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) single nucleotide variant Fanconi anemia [RCV002271829]|Fanconi anemia complementation group A [RCV002307853] Chr16:89773373 [GRCh38]
Chr16:89839781 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1715+131G>A single nucleotide variant not provided [RCV001770600] Chr16:89779738 [GRCh38]
Chr16:89846146 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4T>A (p.Ser2Thr) single nucleotide variant not provided [RCV003237514] Chr16:89816612 [GRCh38]
Chr16:89883020 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2410G>T (p.Gly804Cys) single nucleotide variant not provided [RCV003237524] Chr16:89769931 [GRCh38]
Chr16:89836339 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4192A>G (p.Lys1398Glu) single nucleotide variant not provided [RCV003237517] Chr16:89738950 [GRCh38]
Chr16:89805358 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2247C>G (p.Phe749Leu) single nucleotide variant not provided [RCV003222343] Chr16:89770235 [GRCh38]
Chr16:89836643 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1749C>G (p.Phe583Leu) single nucleotide variant not provided [RCV003237528] Chr16:89778970 [GRCh38]
Chr16:89845378 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1609G>T (p.Ala537Ser) single nucleotide variant not provided [RCV003237530] Chr16:89782876 [GRCh38]
Chr16:89849284 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_87636753)_(90109753_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] Chr16:87636753..90109753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000135.4(FANCA):c.4118C>A (p.Thr1373Lys) single nucleotide variant not provided [RCV003238554] Chr16:89739182 [GRCh38]
Chr16:89805590 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.882C>G (p.Ile294Met) single nucleotide variant Fanconi anemia [RCV001868793]|not provided [RCV003237513] Chr16:89799177 [GRCh38]
Chr16:89865585 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp) single nucleotide variant Fanconi anemia [RCV001868794]|not provided [RCV003237521] Chr16:89749731 [GRCh38]
Chr16:89816139 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer) microsatellite Fanconi anemia complementation group A [RCV001783243] Chr16:89814596..89814597 [GRCh38]
Chr16:89881004..89881005 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys) single nucleotide variant Fanconi anemia complementation group A [RCV002254010] Chr16:89791419 [GRCh38]
Chr16:89857827 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) microsatellite FANCA-related condition [RCV003941129]|Fanconi anemia [RCV001868846]|Fanconi anemia complementation group A [RCV001783248] Chr16:89739996..89739997 [GRCh38]
Chr16:89806404..89806405 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter) single nucleotide variant Fanconi anemia complementation group A [RCV002254009] Chr16:89764989 [GRCh38]
Chr16:89831397 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2755G>A (p.Val919Met) single nucleotide variant Fanconi anemia [RCV002255859] Chr16:89764913 [GRCh38]
Chr16:89831321 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2023G>A (p.Ala675Thr) single nucleotide variant Fanconi anemia [RCV002257096] Chr16:89771806 [GRCh38]
Chr16:89838214 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile) single nucleotide variant Fanconi anemia [RCV002257100] Chr16:89764999 [GRCh38]
Chr16:89831407 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.376A>T (p.Thr126Ser) single nucleotide variant Fanconi anemia [RCV002257107] Chr16:89810979 [GRCh38]
Chr16:89877387 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3907C>T (p.Leu1303=) single nucleotide variant Fanconi anemia [RCV002257108] Chr16:89740021 [GRCh38]
Chr16:89806429 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3018G>T (p.Leu1006Phe) single nucleotide variant Fanconi anemia [RCV002259203] Chr16:89752186 [GRCh38]
Chr16:89818594 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3099C>T (p.Asp1033=) single nucleotide variant Fanconi anemia [RCV002104354] Chr16:89749870 [GRCh38]
Chr16:89816278 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.-1C>T single nucleotide variant not provided [RCV001754977] Chr16:89816616 [GRCh38]
Chr16:89883024 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu) inversion Fanconi anemia [RCV001868640]|not provided [RCV001764092] Chr16:89742911..89742912 [GRCh38]
Chr16:89809319..89809320 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys) single nucleotide variant Fanconi anemia [RCV002544200]|Fanconi anemia complementation group A [RCV001761680]|not provided [RCV003238553] Chr16:89808341 [GRCh38]
Chr16:89874749 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1900+114C>G single nucleotide variant not provided [RCV001770601] Chr16:89775628 [GRCh38]
Chr16:89842036 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4319del (p.Gln1440fs) deletion Fanconi anemia [RCV002540735]|not provided [RCV003237515] Chr16:89738650 [GRCh38]
Chr16:89805058 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3652C>A (p.Pro1218Thr) single nucleotide variant not provided [RCV003237520] Chr16:89742913 [GRCh38]
Chr16:89809321 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1567-1G>C single nucleotide variant Fanconi anemia [RCV002544246]|Fanconi anemia complementation group A [RCV001783247] Chr16:89782919 [GRCh38]
Chr16:89849327 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser) single nucleotide variant Fanconi anemia [RCV001868774]|not provided [RCV003238555] Chr16:89739527 [GRCh38]
Chr16:89805935 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.2:c.522+715_2852+656del deletion Fanconi anemia [RCV001775471]   pathogenic
NM_000135.4(FANCA):c.2852+133C>G single nucleotide variant not provided [RCV001770604] Chr16:89761816 [GRCh38]
Chr16:89828224 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1511G>A (p.Arg504His) single nucleotide variant Fanconi anemia [RCV002540736]|not provided [RCV003237531] Chr16:89783062 [GRCh38]
Chr16:89849470 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.116G>C (p.Arg39Thr) single nucleotide variant Fanconi anemia [RCV002541345]|not specified [RCV001801132] Chr16:89815950 [GRCh38]
Chr16:89882358 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3408+1G>T single nucleotide variant Neurodevelopmental abnormality [RCV001733870] Chr16:89746830 [GRCh38]
Chr16:89813238 [GRCh37]
Chr16:16q24.3		 likely pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NC_000016.10:g.89816773G>A single nucleotide variant not provided [RCV001770856] Chr16:89816773 [GRCh38]
Chr16:89883181 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter) single nucleotide variant Fanconi anemia [RCV002034561]|Fanconi anemia complementation group A [RCV001783242] Chr16:89771686 [GRCh38]
Chr16:89838094 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter) single nucleotide variant Fanconi anemia [RCV002541143]|Fanconi anemia complementation group A [RCV001783246] Chr16:89749735 [GRCh38]
Chr16:89816143 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1716-2A>C single nucleotide variant not provided [RCV003238556] Chr16:89779005 [GRCh38]
Chr16:89845413 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2015-249C>T single nucleotide variant not provided [RCV001770602] Chr16:89772063 [GRCh38]
Chr16:89838471 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4148G>T (p.Ser1383Ile) single nucleotide variant not provided [RCV003237518] Chr16:89739152 [GRCh38]
Chr16:89805560 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4021_4027del (p.Tyr1341fs) deletion not provided [RCV003237519] Chr16:89739273..89739279 [GRCh38]
Chr16:89805681..89805687 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3007A>T (p.Asn1003Tyr) single nucleotide variant not provided [RCV003237522] Chr16:89752197 [GRCh38]
Chr16:89818605 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1827-2A>G single nucleotide variant Fanconi anemia [RCV002544206]|Fanconi anemia complementation group A [RCV003325232]|not provided [RCV003237526] Chr16:89775817 [GRCh38]
Chr16:89842225 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1817C>G (p.Ser606Cys) single nucleotide variant not provided [RCV003237527] Chr16:89778810 [GRCh38]
Chr16:89845218 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.917C>T (p.Thr306Met) single nucleotide variant Fanconi anemia [RCV001868772]|Fanconi anemia complementation group A [RCV001761678]|not provided [RCV003238551] Chr16:89795995 [GRCh38]
Chr16:89862403 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu) single nucleotide variant Fanconi anemia [RCV001868773]|not provided [RCV003238552] Chr16:89796001 [GRCh38]
Chr16:89862409 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2602-273C>T single nucleotide variant not provided [RCV001770603] Chr16:89765339 [GRCh38]
Chr16:89831747 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2674T>C (p.Ser892Pro) single nucleotide variant not provided [RCV003237523] Chr16:89764994 [GRCh38]
Chr16:89831402 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-2A>G single nucleotide variant not provided [RCV003237525] Chr16:89770261 [GRCh38]
Chr16:89836669 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) single nucleotide variant Fanconi anemia [RCV002544245]|Fanconi anemia complementation group A [RCV001783244] Chr16:89808310 [GRCh38]
Chr16:89874718 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2707dup (p.Trp903fs) duplication Fanconi anemia [RCV003829174] Chr16:89764960..89764961 [GRCh38]
Chr16:89831368..89831369 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh37/hg19 16q24.3(chr16:89847604-89862444)x0 copy number loss not provided [RCV001795865] Chr16:89847604..89862444 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.991del (p.Ser331fs) deletion Fanconi anemia [RCV001806722]|Fanconi anemia complementation group A [RCV002503294] Chr16:89795921 [GRCh38]
Chr16:89862329 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val) single nucleotide variant Fanconi anemia complementation group A [RCV001788942]|Inborn genetic diseases [RCV002544307] Chr16:89771805 [GRCh38]
Chr16:89838213 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg) single nucleotide variant Fanconi anemia complementation group A [RCV001788968] Chr16:89796014 [GRCh38]
Chr16:89862422 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2967G>A (p.Met989Ile) single nucleotide variant Fanconi anemia [RCV001869676]|not specified [RCV001817597] Chr16:89758591 [GRCh38]
Chr16:89824999 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2927A>G (p.Asp976Gly) single nucleotide variant not specified [RCV001817601] Chr16:89758631 [GRCh38]
Chr16:89825039 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.596+12A>G single nucleotide variant Fanconi anemia [RCV002077288]|not specified [RCV001817620] Chr16:89808282 [GRCh38]
Chr16:89874690 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3544C>T (p.Leu1182Phe) single nucleotide variant not provided [RCV001801109] Chr16:89745041 [GRCh38]
Chr16:89811449 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1312G>A (p.Ala438Thr) single nucleotide variant Fanconi anemia [RCV001869454]|not provided [RCV001801122] Chr16:89791450 [GRCh38]
Chr16:89857858 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2316+12C>T single nucleotide variant not specified [RCV001817309] Chr16:89770154 [GRCh38]
Chr16:89836562 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter) single nucleotide variant Fanconi anemia complementation group A [RCV001775050] Chr16:89783064 [GRCh38]
Chr16:89849472 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) single nucleotide variant FANCA-related condition [RCV003401739]|Fanconi anemia [RCV003635979]|not provided [RCV001817684] Chr16:89739204 [GRCh38]
Chr16:89805612 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) deletion Fanconi anemia [RCV001869794]|Fanconi anemia complementation group A [RCV003470932]|not provided [RCV001817936] Chr16:89749822..89749823 [GRCh38]
Chr16:89816230..89816231 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.220C>G (p.Leu74Val) single nucleotide variant Fanconi anemia [RCV001869686]|Fanconi anemia complementation group A [RCV002489875]|not specified [RCV001819342] Chr16:89814583 [GRCh38]
Chr16:89880991 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2853-7G>T single nucleotide variant not specified [RCV001819392] Chr16:89758712 [GRCh38]
Chr16:89825120 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn) single nucleotide variant FANCA-related condition [RCV003892868]|Fanconi anemia [RCV002542577]|not specified [RCV001819499] Chr16:89738901 [GRCh38]
Chr16:89805309 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.454G>C (p.Ala152Pro) single nucleotide variant not provided [RCV001815806] Chr16:89810775 [GRCh38]
Chr16:89877183 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2621G>C (p.Arg874Thr) single nucleotide variant not provided [RCV001820282] Chr16:89765047 [GRCh38]
Chr16:89831455 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3239+11C>G single nucleotide variant Fanconi anemia [RCV002077303]|Fanconi anemia complementation group A [RCV002489877]|not specified [RCV001820327] Chr16:89749719 [GRCh38]
Chr16:89816127 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.521A>G (p.Gln174Arg) single nucleotide variant not specified [RCV001820681] Chr16:89810708 [GRCh38]
Chr16:89877116 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*348G>A single nucleotide variant not specified [RCV001822386] Chr16:89738594 [GRCh38]
Chr16:89805002 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3457G>A (p.Asp1153Asn) single nucleotide variant not specified [RCV001822504] Chr16:89746640 [GRCh38]
Chr16:89813048 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2070C>T (p.His690=) single nucleotide variant Fanconi anemia [RCV002541992]|not specified [RCV001817379] Chr16:89771759 [GRCh38]
Chr16:89838167 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2504+1G>C single nucleotide variant Abnormality of blood and blood-forming tissues [RCV001814541]|Fanconi anemia [RCV002570638] Chr16:89769836 [GRCh38]
Chr16:89836244 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1859C>T (p.Thr620Ile) single nucleotide variant not specified [RCV001819165] Chr16:89775783 [GRCh38]
Chr16:89842191 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2265A>T (p.Gly755=) single nucleotide variant not specified [RCV001819224] Chr16:89770217 [GRCh38]
Chr16:89836625 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3315C>T (p.Cys1105=) single nucleotide variant Fanconi anemia [RCV002542557]|not specified [RCV001819290] Chr16:89748692 [GRCh38]
Chr16:89815100 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3212G>A (p.Arg1071Lys) single nucleotide variant not specified [RCV001819418] Chr16:89749757 [GRCh38]
Chr16:89816165 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2602-9C>G single nucleotide variant Fanconi anemia [RCV002542589]|not specified [RCV001819632] Chr16:89765075 [GRCh38]
Chr16:89831483 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1211A>G (p.Gln404Arg) single nucleotide variant Fanconi anemia [RCV002542609]|not specified [RCV001820338] Chr16:89791941 [GRCh38]
Chr16:89858349 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val) single nucleotide variant Fanconi anemia [RCV001869714]|Fanconi anemia complementation group A [RCV002482363]|not specified [RCV001820342] Chr16:89769921 [GRCh38]
Chr16:89836329 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile) single nucleotide variant FANCA-related condition [RCV003394276]|Fanconi anemia [RCV002542628]|Fanconi anemia complementation group A [RCV002489878]|not specified [RCV001820474] Chr16:89764933 [GRCh38]
Chr16:89831341 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1247C>T (p.Ala416Val) single nucleotide variant not specified [RCV001820647] Chr16:89791515 [GRCh38]
Chr16:89857923 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu) single nucleotide variant Fanconi anemia [RCV001869740]|not specified [RCV001820714] Chr16:89739491 [GRCh38]
Chr16:89805899 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2657A>C (p.Glu886Ala) single nucleotide variant not specified [RCV001822378] Chr16:89765011 [GRCh38]
Chr16:89831419 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys) single nucleotide variant Fanconi anemia [RCV001885353]|not specified [RCV001822663] Chr16:89770174 [GRCh38]
Chr16:89836582 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys) single nucleotide variant Fanconi anemia [RCV002542678]|not specified [RCV001822688] Chr16:89740051 [GRCh38]
Chr16:89806459 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1439T>G (p.Leu480Arg) single nucleotide variant Fanconi anemia [RCV001914607] Chr16:89784885 [GRCh38]
Chr16:89851293 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3698C>G (p.Ala1233Gly) single nucleotide variant Fanconi anemia [RCV001864413] Chr16:89742867 [GRCh38]
Chr16:89809275 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.506A>T (p.Glu169Val) single nucleotide variant Fanconi anemia [RCV002023979] Chr16:89810723 [GRCh38]
Chr16:89877131 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89811357)_(89842233_?)del deletion Fanconi anemia [RCV001949495] Chr16:89811357..89842233 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2878C>T (p.His960Tyr) single nucleotide variant Fanconi anemia [RCV001929164] Chr16:89758680 [GRCh38]
Chr16:89825088 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3771G>T (p.Leu1257Phe) single nucleotide variant Fanconi anemia [RCV001988104] Chr16:89740861 [GRCh38]
Chr16:89807269 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3239+18C>G single nucleotide variant Fanconi anemia [RCV002009049] Chr16:89749712 [GRCh38]
Chr16:89816120 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2976C>G (p.His992Gln) single nucleotide variant Fanconi anemia [RCV001950713] Chr16:89758582 [GRCh38]
Chr16:89824990 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2422C>G (p.Pro808Ala) single nucleotide variant Fanconi anemia [RCV001864630] Chr16:89769919 [GRCh38]
Chr16:89836327 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4285G>C (p.Asp1429His) single nucleotide variant Fanconi anemia [RCV001985509] Chr16:89738684 [GRCh38]
Chr16:89805092 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.3247C>T (p.Leu1083Phe) single nucleotide variant Fanconi anemia [RCV001987846] Chr16:89748760 [GRCh38]
Chr16:89815168 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89824975)_(89839802_?)del deletion Fanconi anemia [RCV001949566] Chr16:89824975..89839802 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3574C>T (p.Pro1192Ser) single nucleotide variant Fanconi anemia [RCV001863753] Chr16:89745011 [GRCh38]
Chr16:89811419 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1 copy number loss Fanconi anemia complementation group A [RCV001825199] Chr16:89874496..89888566 [GRCh37]
Chr16:16q24.3		 not provided
NM_000135.4(FANCA):c.3685G>A (p.Ala1229Thr) single nucleotide variant Fanconi anemia [RCV002024187] Chr16:89742880 [GRCh38]
Chr16:89809288 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2341G>A (p.Val781Met) single nucleotide variant Fanconi anemia [RCV001928995] Chr16:89770000 [GRCh38]
Chr16:89836408 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3348+4G>A single nucleotide variant Fanconi anemia [RCV001915061] Chr16:89748655 [GRCh38]
Chr16:89815063 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.616G>T (p.Val206Leu) single nucleotide variant Fanconi anemia [RCV002045666] Chr16:89805373 [GRCh38]
Chr16:89871781 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3696T>G (p.Phe1232Leu) single nucleotide variant Fanconi anemia [RCV002042033] Chr16:89742869 [GRCh38]
Chr16:89809277 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp) single nucleotide variant Fanconi anemia [RCV002023003]|not provided [RCV003161217] Chr16:89805366 [GRCh38]
Chr16:89871774 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.80-6C>G single nucleotide variant Fanconi anemia [RCV002009047] Chr16:89815992 [GRCh38]
Chr16:89882400 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2573G>C (p.Ser858Thr) single nucleotide variant Fanconi anemia [RCV001988454] Chr16:89767169 [GRCh38]
Chr16:89833577 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3663C>T (p.Asn1221=) single nucleotide variant Fanconi anemia [RCV002043011] Chr16:89742902 [GRCh38]
Chr16:89809310 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.324C>G (p.Pro108=) single nucleotide variant Fanconi anemia [RCV002025290] Chr16:89811031 [GRCh38]
Chr16:89877439 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.149T>C (p.Leu50Pro) single nucleotide variant Fanconi anemia [RCV002024830] Chr16:89815917 [GRCh38]
Chr16:89882325 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.136T>C (p.Ser46Pro) single nucleotide variant Fanconi anemia [RCV001914479] Chr16:89815930 [GRCh38]
Chr16:89882338 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe) single nucleotide variant Fanconi anemia [RCV001864191]|Fanconi anemia complementation group A [RCV002489984] Chr16:89811061 [GRCh38]
Chr16:89877469 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2629T>C (p.Ser877Pro) single nucleotide variant Fanconi anemia [RCV002043462] Chr16:89765039 [GRCh38]
Chr16:89831447 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.917C>A (p.Thr306Lys) single nucleotide variant Fanconi anemia [RCV002006810] Chr16:89795995 [GRCh38]
Chr16:89862403 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89748800-89903843)x1 copy number loss not provided [RCV001827933] Chr16:89748800..89903843 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2778+12T>C single nucleotide variant Fanconi anemia [RCV001949674]|Fanconi anemia complementation group A [RCV002492136] Chr16:89764878 [GRCh38]
Chr16:89831286 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1777-2A>G single nucleotide variant Fanconi anemia [RCV002025307] Chr16:89778852 [GRCh38]
Chr16:89845260 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.869C>T (p.Ser290Phe) single nucleotide variant Fanconi anemia [RCV001929807] Chr16:89799190 [GRCh38]
Chr16:89865598 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.957C>G (p.Phe319Leu) single nucleotide variant Fanconi anemia [RCV002044944] Chr16:89795955 [GRCh38]
Chr16:89862363 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu) single nucleotide variant Fanconi anemia [RCV001914540] Chr16:89739513 [GRCh38]
Chr16:89805921 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89849247)_(89866066_?)del deletion Fanconi anemia [RCV001874432] Chr16:89849247..89866066 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.253G>A (p.Ala85Thr) single nucleotide variant Fanconi anemia [RCV001928661] Chr16:89814550 [GRCh38]
Chr16:89880958 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3508G>C (p.Ala1170Pro) single nucleotide variant Fanconi anemia [RCV001949994] Chr16:89746589 [GRCh38]
Chr16:89812997 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1227G>A single nucleotide variant Fanconi anemia [RCV001988408] Chr16:89739473 [GRCh38]
Chr16:89805881 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.522+2T>C single nucleotide variant Fanconi anemia [RCV002025367] Chr16:89810705 [GRCh38]
Chr16:89877113 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.500G>A (p.Cys167Tyr) single nucleotide variant Fanconi anemia [RCV001971514] Chr16:89810729 [GRCh38]
Chr16:89877137 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1251G>T (p.Gln417His) single nucleotide variant Fanconi anemia [RCV002043708]|Fanconi anemia complementation group A [RCV002479806] Chr16:89791511 [GRCh38]
Chr16:89857919 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:88985997-89962916) copy number gain not specified [RCV002052564] Chr16:88985997..89962916 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89816056)_(89818822_?)del deletion Fanconi anemia [RCV002041743] Chr16:89816056..89818822 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1829C>T (p.Ala610Val) single nucleotide variant Fanconi anemia [RCV002023962] Chr16:89775813 [GRCh38]
Chr16:89842221 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3065A>G (p.Gln1022Arg) single nucleotide variant Fanconi anemia [RCV001864408] Chr16:89752139 [GRCh38]
Chr16:89818547 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89833539)_(89839802_?)del deletion Fanconi anemia [RCV001949565] Chr16:89833539..89839802 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1255T>G (p.Phe419Val) single nucleotide variant Fanconi anemia [RCV002021850] Chr16:89791507 [GRCh38]
Chr16:89857915 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.628C>G (p.Leu210Val) single nucleotide variant Fanconi anemia [RCV001911475] Chr16:89805361 [GRCh38]
Chr16:89871769 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1403A>C (p.Lys468Thr) single nucleotide variant Fanconi anemia [RCV002006272] Chr16:89784921 [GRCh38]
Chr16:89851329 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu) single nucleotide variant Fanconi anemia [RCV001947698] Chr16:89745047 [GRCh38]
Chr16:89811455 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1560C>G (p.Asp520Glu) single nucleotide variant Fanconi anemia [RCV001909011] Chr16:89783013 [GRCh38]
Chr16:89849421 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.50G>C (p.Gly17Ala) single nucleotide variant Fanconi anemia [RCV001927092] Chr16:89816566 [GRCh38]
Chr16:89882974 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln) single nucleotide variant Fanconi anemia [RCV002023129]|Fanconi anemia complementation group A [RCV002507801] Chr16:89745034 [GRCh38]
Chr16:89811442 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.188A>C (p.Glu63Ala) single nucleotide variant Fanconi anemia [RCV002006771] Chr16:89815878 [GRCh38]
Chr16:89882286 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) single nucleotide variant Fanconi anemia [RCV001965614]|Fanconi anemia complementation group A [RCV002507709]|Ovarian cancer [RCV003154227] Chr16:89770615 [GRCh38]
Chr16:89837023 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg) single nucleotide variant Fanconi anemia [RCV002020794] Chr16:89739535 [GRCh38]
Chr16:89805943 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2212C>G (p.Pro738Ala) single nucleotide variant Fanconi anemia [RCV001908286] Chr16:89770574 [GRCh38]
Chr16:89836982 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3163C>A (p.Arg1055=) single nucleotide variant Fanconi anemia [RCV001964354]|not specified [RCV003323965] Chr16:89749806 [GRCh38]
Chr16:89816214 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.541G>A (p.Ala181Thr) single nucleotide variant Fanconi anemia [RCV001985085] Chr16:89808349 [GRCh38]
Chr16:89874757 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe) single nucleotide variant Fanconi anemia [RCV001968024]|Fanconi anemia complementation group A [RCV002492050] Chr16:89742930 [GRCh38]
Chr16:89809338 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3646G>A (p.Ala1216Thr) single nucleotide variant Fanconi anemia [RCV002040722] Chr16:89742919 [GRCh38]
Chr16:89809327 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3 copy number gain not provided [RCV001827759] Chr16:89337891..90155062 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4138G>A (p.Ala1380Thr) single nucleotide variant Fanconi anemia [RCV001966731] Chr16:89739162 [GRCh38]
Chr16:89805570 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) deletion Fanconi anemia [RCV001910557]|Fanconi anemia complementation group A [RCV003471059] Chr16:89739515 [GRCh38]
Chr16:89805923 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) single nucleotide variant Fanconi anemia [RCV001844451]|Fanconi anemia complementation group A [RCV003464156] Chr16:89738884 [GRCh38]
Chr16:89805292 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs) microsatellite Fanconi anemia [RCV002004592] Chr16:89791418..89791419 [GRCh38]
Chr16:89857826..89857827 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.239G>A (p.Cys80Tyr) single nucleotide variant Fanconi anemia [RCV001910749] Chr16:89814564 [GRCh38]
Chr16:89880972 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1282G>A (p.Val428Ile) single nucleotide variant Fanconi anemia [RCV001926400] Chr16:89791480 [GRCh38]
Chr16:89857888 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter) single nucleotide variant Fanconi anemia [RCV002042193] Chr16:89752140 [GRCh38]
Chr16:89818548 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.980T>A (p.Ile327Lys) single nucleotide variant Fanconi anemia [RCV001890286] Chr16:89795932 [GRCh38]
Chr16:89862340 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1527C>G (p.Asp509Glu) single nucleotide variant Fanconi anemia [RCV001911938] Chr16:89783046 [GRCh38]
Chr16:89849454 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89815049)_(89862436_?)del deletion Fanconi anemia [RCV001967417] Chr16:89815049..89862436 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.831_848dup (p.Leu278_Ala283dup) duplication Fanconi anemia [RCV001946049] Chr16:89799210..89799211 [GRCh38]
Chr16:89865618..89865619 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89763758-89961958) copy number loss not specified [RCV002052575] Chr16:89763758..89961958 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.709+10T>A single nucleotide variant Fanconi anemia [RCV001871414] Chr16:89805270 [GRCh38]
Chr16:89871678 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1626G>A (p.Glu542=) single nucleotide variant Fanconi anemia [RCV001946450] Chr16:89782859 [GRCh38]
Chr16:89849267 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3828+2T>A single nucleotide variant not provided [RCV001848639] Chr16:89740802 [GRCh38]
Chr16:89807210 [GRCh37]
Chr16:16q24.3		 not provided
NC_000016.9:g.(?_89818536)_(89818822_?)del deletion Fanconi anemia [RCV002007484] Chr16:89818536..89818822 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs) duplication Fanconi anemia [RCV001946961] Chr16:89770582..89770583 [GRCh38]
Chr16:89836990..89836991 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys) single nucleotide variant Fanconi anemia [RCV001893146]|not specified [RCV002246578] Chr16:89773343 [GRCh38]
Chr16:89839751 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89836111)_(89839802_?)del deletion Fanconi anemia [RCV002007491] Chr16:89836111..89839802 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) duplication Fanconi anemia [RCV001928441]|Fanconi anemia complementation group A [RCV002490280] Chr16:89773283..89773284 [GRCh38]
Chr16:89839691..89839692 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3467T>A (p.Leu1156Gln) single nucleotide variant Fanconi anemia [RCV001911839] Chr16:89746630 [GRCh38]
Chr16:89813038 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser) single nucleotide variant Fanconi anemia [RCV001913935]|Fanconi anemia complementation group A [RCV002484544] Chr16:89770574 [GRCh38]
Chr16:89836982 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1834A>G (p.Lys612Glu) single nucleotide variant Fanconi anemia [RCV002024053] Chr16:89775808 [GRCh38]
Chr16:89842216 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.709+20C>T single nucleotide variant Fanconi anemia [RCV002024372] Chr16:89805260 [GRCh38]
Chr16:89871668 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.385G>T (p.Ala129Ser) single nucleotide variant Fanconi anemia [RCV001927353] Chr16:89810970 [GRCh38]
Chr16:89877378 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs) deletion Fanconi anemia [RCV001894696] Chr16:89791955..89791967 [GRCh38]
Chr16:89858363..89858375 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2981+3T>C single nucleotide variant Fanconi anemia [RCV001986679] Chr16:89758574 [GRCh38]
Chr16:89824982 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1727G>C (p.Arg576Thr) single nucleotide variant Fanconi anemia [RCV001889239] Chr16:89778992 [GRCh38]
Chr16:89845400 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs) duplication Fanconi anemia [RCV001946179] Chr16:89740026..89740027 [GRCh38]
Chr16:89806434..89806435 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2979A>G (p.Gln993=) single nucleotide variant Fanconi anemia [RCV002023802]|not provided [RCV003478924] Chr16:89758579 [GRCh38]
Chr16:89824987 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn) single nucleotide variant Fanconi anemia [RCV001873019] Chr16:89738636 [GRCh38]
Chr16:89805044 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1626+5T>A single nucleotide variant Fanconi anemia [RCV001987041] Chr16:89782854 [GRCh38]
Chr16:89849262 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met) single nucleotide variant Fanconi anemia [RCV001908229]|Fanconi anemia complementation group A [RCV002490128] Chr16:89746849 [GRCh38]
Chr16:89813257 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2090T>C (p.Val697Ala) single nucleotide variant Fanconi anemia [RCV001967452] Chr16:89771739 [GRCh38]
Chr16:89838147 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3871A>G (p.Ile1291Val) single nucleotide variant Fanconi anemia [RCV001908496] Chr16:89740057 [GRCh38]
Chr16:89806465 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile) single nucleotide variant Fanconi anemia [RCV002004380]|Fanconi anemia complementation group A [RCV002486661] Chr16:89764940 [GRCh38]
Chr16:89831348 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.189+3A>T single nucleotide variant Fanconi anemia [RCV002044060] Chr16:89815874 [GRCh38]
Chr16:89882282 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.199C>A (p.Pro67Thr) single nucleotide variant not specified [RCV001844450] Chr16:89814604 [GRCh38]
Chr16:89881012 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89842130)_(89883023_?)dup duplication Fanconi anemia [RCV001913452] Chr16:89842130..89883023 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3 copy number gain not provided [RCV001829158] Chr16:88000389..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000135.4(FANCA):c.1498C>G (p.Pro500Ala) single nucleotide variant Fanconi anemia [RCV001908779] Chr16:89783075 [GRCh38]
Chr16:89849483 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val) single nucleotide variant Fanconi anemia [RCV001893647]|not provided [RCV003478892] Chr16:89738632 [GRCh38]
Chr16:89805040 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln) single nucleotide variant Fanconi anemia [RCV001890394]|Fanconi anemia complementation group A [RCV002482646] Chr16:89782891 [GRCh38]
Chr16:89849299 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly) single nucleotide variant Fanconi anemia [RCV001869865]|not specified [RCV001844449] Chr16:89745038 [GRCh38]
Chr16:89811446 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.893+4T>C single nucleotide variant Fanconi anemia [RCV001913583] Chr16:89799162 [GRCh38]
Chr16:89865570 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter) single nucleotide variant Fanconi anemia [RCV001970064] Chr16:89740823 [GRCh38]
Chr16:89807231 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.620G>C (p.Gly207Ala) single nucleotide variant Fanconi anemia [RCV002021338] Chr16:89805369 [GRCh38]
Chr16:89871777 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.553C>G (p.Leu185Val) single nucleotide variant Fanconi anemia [RCV001965637] Chr16:89808337 [GRCh38]
Chr16:89874745 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.427-3C>G single nucleotide variant Fanconi anemia [RCV001844452] Chr16:89810805 [GRCh38]
Chr16:89877213 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.8A>C (p.Asp3Ala) single nucleotide variant Fanconi anemia [RCV001945719]|Inborn genetic diseases [RCV002558465] Chr16:89816608 [GRCh38]
Chr16:89883016 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.184C>G (p.Leu62Val) single nucleotide variant Fanconi anemia [RCV002005220] Chr16:89815882 [GRCh38]
Chr16:89882290 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3067-14C>G single nucleotide variant Fanconi anemia [RCV001966818] Chr16:89749916 [GRCh38]
Chr16:89816324 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val) single nucleotide variant Fanconi anemia [RCV002543294]|not specified [RCV001844448] Chr16:89779944 [GRCh38]
Chr16:89846352 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.9:g.(?_89869657)_(89869759_?)del deletion Fanconi anemia [RCV001947129] Chr16:89869657..89869759 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2505-5T>G single nucleotide variant Fanconi anemia [RCV001871059] Chr16:89767242 [GRCh38]
Chr16:89833650 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2778+3A>G single nucleotide variant Fanconi anemia [RCV002042411] Chr16:89764887 [GRCh38]
Chr16:89831295 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3230T>C (p.Met1077Thr) single nucleotide variant Fanconi anemia [RCV002042513] Chr16:89749739 [GRCh38]
Chr16:89816147 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.311G>A (p.Arg104Lys) single nucleotide variant Fanconi anemia [RCV001893553] Chr16:89811044 [GRCh38]
Chr16:89877452 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2687T>G (p.Leu896Trp) single nucleotide variant Fanconi anemia [RCV001894393] Chr16:89764981 [GRCh38]
Chr16:89831389 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1225+14C>T single nucleotide variant Fanconi anemia [RCV002007118]|Fanconi anemia complementation group A [RCV002492114] Chr16:89791913 [GRCh38]
Chr16:89858321 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.893+4T>G single nucleotide variant Fanconi anemia [RCV002022733] Chr16:89799162 [GRCh38]
Chr16:89865570 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3570G>C (p.Gln1190His) single nucleotide variant Fanconi anemia [RCV002043540] Chr16:89745015 [GRCh38]
Chr16:89811423 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.118dup (p.Ala40fs) duplication Fanconi anemia [RCV001945824] Chr16:89815947..89815948 [GRCh38]
Chr16:89882355..89882356 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1243A>G (p.Met415Val) single nucleotide variant Fanconi anemia [RCV001927927] Chr16:89791519 [GRCh38]
Chr16:89857927 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89805009)_(89813308_?)dup duplication Fanconi anemia [RCV001909668] Chr16:89805009..89813308 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.830C>T (p.Ala277Val) single nucleotide variant Fanconi anemia [RCV001889615] Chr16:89799229 [GRCh38]
Chr16:89865637 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu) single nucleotide variant Fanconi anemia [RCV001983248]|Fanconi anemia complementation group A [RCV002492141]|not provided [RCV002305638] Chr16:89771703 [GRCh38]
Chr16:89838111 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1247C>A (p.Ala416Asp) single nucleotide variant Fanconi anemia [RCV002006200] Chr16:89791515 [GRCh38]
Chr16:89857923 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val) single nucleotide variant Fanconi anemia [RCV001909978]|Fanconi anemia complementation group A [RCV002291785] Chr16:89740030 [GRCh38]
Chr16:89806438 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter) single nucleotide variant Fanconi anemia [RCV001945161] Chr16:89775788 [GRCh38]
Chr16:89842196 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) single nucleotide variant Fanconi anemia [RCV001948275]|Fanconi anemia complementation group A [RCV002507601]|not specified [RCV002266062] Chr16:89770216 [GRCh38]
Chr16:89836624 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_000135.4(FANCA):c.158G>C (p.Ser53Thr) single nucleotide variant Fanconi anemia [RCV001911226] Chr16:89815908 [GRCh38]
Chr16:89882316 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1341A>G (p.Ser447=) single nucleotide variant Fanconi anemia [RCV002040513] Chr16:89791421 [GRCh38]
Chr16:89857829 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.97G>A (p.Glu33Lys) single nucleotide variant Fanconi anemia [RCV001948296] Chr16:89815969 [GRCh38]
Chr16:89882377 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly) single nucleotide variant Fanconi anemia [RCV001983460]|not provided [RCV003478916] Chr16:89739269 [GRCh38]
Chr16:89805677 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2114G>A (p.Ser705Asn) single nucleotide variant Fanconi anemia [RCV001965143] Chr16:89771715 [GRCh38]
Chr16:89838123 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89805009)_(89806517_?)del deletion Fanconi anemia [RCV001967671] Chr16:89805009..89806517 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.894-186C>G single nucleotide variant not provided [RCV001823394] Chr16:89796204 [GRCh38]
Chr16:89862612 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1358A>G (p.Lys453Arg) single nucleotide variant Fanconi anemia [RCV002038845] Chr16:89791404 [GRCh38]
Chr16:89857812 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89809188)_(89846385_?)del deletion Fanconi anemia [RCV001941933] Chr16:89809188..89846385 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro) single nucleotide variant Fanconi anemia [RCV002019154] Chr16:89738608 [GRCh38]
Chr16:89805016 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2222+14C>T single nucleotide variant Fanconi anemia [RCV001941164] Chr16:89770550 [GRCh38]
Chr16:89836958 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3603A>C (p.Gln1201His) single nucleotide variant Fanconi anemia [RCV001944019] Chr16:89744982 [GRCh38]
Chr16:89811390 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1228G>A single nucleotide variant Fanconi anemia [RCV001884259] Chr16:89739474 [GRCh38]
Chr16:89805882 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2717del (p.Ala906fs) deletion Fanconi anemia [RCV001957284] Chr16:89764951 [GRCh38]
Chr16:89831359 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met) single nucleotide variant Fanconi anemia [RCV002011761]|Fanconi anemia complementation group A [RCV003485759] Chr16:89761984 [GRCh38]
Chr16:89828392 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.226A>G (p.Lys76Glu) single nucleotide variant Fanconi anemia [RCV001886728] Chr16:89814577 [GRCh38]
Chr16:89880985 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2164C>G (p.Leu722Val) single nucleotide variant Fanconi anemia [RCV001939195] Chr16:89770622 [GRCh38]
Chr16:89837030 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met) single nucleotide variant Fanconi anemia [RCV002020099]|not provided [RCV002479736] Chr16:89742839 [GRCh38]
Chr16:89809247 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2783C>A (p.Thr928Asn) single nucleotide variant Fanconi anemia [RCV002048233] Chr16:89762018 [GRCh38]
Chr16:89828426 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1360-12C>T single nucleotide variant Fanconi anemia [RCV001941332]|Fanconi anemia complementation group A [RCV002497822] Chr16:89784976 [GRCh38]
Chr16:89851384 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-3C>G single nucleotide variant Fanconi anemia [RCV001941357] Chr16:89765069 [GRCh38]
Chr16:89831477 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89838076)_(89883033_?)del deletion Fanconi anemia [RCV001941924] Chr16:89838076..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89833539)_(89883033_?)del deletion Fanconi anemia [RCV001941926] Chr16:89833539..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3134A>C (p.Glu1045Ala) single nucleotide variant Fanconi anemia [RCV002038553] Chr16:89749835 [GRCh38]
Chr16:89816243 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1776+17A>G single nucleotide variant Fanconi anemia [RCV001906014] Chr16:89778926 [GRCh38]
Chr16:89845334 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro) single nucleotide variant Fanconi anemia [RCV001880515]|not provided [RCV003229900] Chr16:89779945 [GRCh38]
Chr16:89846353 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn) single nucleotide variant Fanconi anemia [RCV002016262]|Fanconi anemia complementation group A [RCV002486674] Chr16:89769882 [GRCh38]
Chr16:89836290 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3188G>C (p.Trp1063Ser) single nucleotide variant Fanconi anemia [RCV001924097] Chr16:89749781 [GRCh38]
Chr16:89816189 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89815049)_(89846375_?)del deletion Fanconi anemia [RCV001941931] Chr16:89815049..89846375 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89857801)_(89874785_?)del deletion Fanconi anemia [RCV001941935] Chr16:89857801..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter) single nucleotide variant Fanconi anemia [RCV002037771] Chr16:89767191 [GRCh38]
Chr16:89833599 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1459C>G (p.Arg487Gly) single nucleotide variant Fanconi anemia [RCV001991362] Chr16:89784865 [GRCh38]
Chr16:89851273 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1590C>G (p.Leu530=) single nucleotide variant Fanconi anemia [RCV001886000] Chr16:89782895 [GRCh38]
Chr16:89849303 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1007-2A>G single nucleotide variant Fanconi anemia [RCV002000789]|Fanconi anemia complementation group A [RCV003471230] Chr16:89792549 [GRCh38]
Chr16:89858957 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.2000C>T (p.Pro667Leu) single nucleotide variant Fanconi anemia [RCV001943138] Chr16:89773285 [GRCh38]
Chr16:89839693 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) single nucleotide variant Fanconi anemia [RCV001944168]|Fanconi anemia complementation group A [RCV003464258] Chr16:89782878 [GRCh38]
Chr16:89849286 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.137C>G (p.Ser46Ter) single nucleotide variant Fanconi anemia [RCV001939493] Chr16:89815929 [GRCh38]
Chr16:89882337 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.827-7T>G single nucleotide variant Fanconi anemia [RCV001944379] Chr16:89799239 [GRCh38]
Chr16:89865647 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89809198)_(89842233_?)del deletion Fanconi anemia [RCV001963038] Chr16:89809198..89842233 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2855A>C (p.Gln952Pro) single nucleotide variant Fanconi anemia [RCV002038999] Chr16:89758703 [GRCh38]
Chr16:89825111 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter) single nucleotide variant Fanconi anemia [RCV001999997] Chr16:89758662 [GRCh38]
Chr16:89825070 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3169del (p.Gln1057fs) deletion Fanconi anemia [RCV002037804] Chr16:89749800 [GRCh38]
Chr16:89816208 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89874692)_(89881031_?)del deletion Fanconi anemia [RCV001963041] Chr16:89874692..89881031 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1349A>T (p.Asp450Val) single nucleotide variant Fanconi anemia [RCV001942454] Chr16:89791413 [GRCh38]
Chr16:89857821 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg) single nucleotide variant Fanconi anemia [RCV001943347]|Fanconi anemia complementation group A [RCV002484477] Chr16:89758635 [GRCh38]
Chr16:89825043 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln) single nucleotide variant Fanconi anemia [RCV001998205] Chr16:89738910 [GRCh38]
Chr16:89805318 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89874682)_(89874795_?)del deletion Fanconi anemia [RCV001953576] Chr16:89874682..89874795 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89838076)_(89842233_?)del deletion Fanconi anemia [RCV001956345] Chr16:89838076..89842233 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3045G>C (p.Glu1015Asp) single nucleotide variant Fanconi anemia [RCV001979086] Chr16:89752159 [GRCh38]
Chr16:89818567 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1626+13G>C single nucleotide variant Fanconi anemia [RCV001963089] Chr16:89782846 [GRCh38]
Chr16:89849254 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89874682)_(89883023_?)del deletion Fanconi anemia [RCV001963091] Chr16:89874682..89883023 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met) single nucleotide variant Fanconi anemia [RCV002033877]|not provided [RCV002479720] Chr16:89769864 [GRCh38]
Chr16:89836272 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89805009)_(89809366_?)dup duplication Fanconi anemia [RCV001941348] Chr16:89805009..89809366 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs) microsatellite Fanconi anemia [RCV001952376] Chr16:89746657..89746658 [GRCh38]
Chr16:89813065..89813066 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe) single nucleotide variant Fanconi anemia [RCV001933035]|Fanconi anemia complementation group A [RCV002484496] Chr16:89738924 [GRCh38]
Chr16:89805332 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89831215)_(89849520_?)del deletion Fanconi anemia [RCV001956488] Chr16:89831215..89849520 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3240-8C>G single nucleotide variant Fanconi anemia [RCV001979160] Chr16:89748775 [GRCh38]
Chr16:89815183 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2735C>A (p.Thr912Lys) single nucleotide variant Fanconi anemia [RCV001923083] Chr16:89764933 [GRCh38]
Chr16:89831341 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2779-13CT[2] microsatellite Fanconi anemia [RCV001962675] Chr16:89762030..89762031 [GRCh38]
Chr16:89828438..89828439 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.367C>A (p.Gln123Lys) single nucleotide variant Fanconi anemia [RCV001963523] Chr16:89810988 [GRCh38]
Chr16:89877396 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter) single nucleotide variant Fanconi anemia [RCV001951051] Chr16:89738929 [GRCh38]
Chr16:89805337 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.26C>A (p.Ser9Tyr) single nucleotide variant Fanconi anemia [RCV001931866] Chr16:89816590 [GRCh38]
Chr16:89882998 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2683C>G (p.Pro895Ala) single nucleotide variant Fanconi anemia [RCV001960025] Chr16:89764985 [GRCh38]
Chr16:89831393 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter) single nucleotide variant Fanconi anemia [RCV001939405] Chr16:89742893 [GRCh38]
Chr16:89809301 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89805009)_(89833665_?)del deletion Fanconi anemia [RCV001963120] Chr16:89805009..89833665 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89849257)_(89871810_?)del deletion Fanconi anemia [RCV001963124] Chr16:89849257..89871810 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3539T>A (p.Val1180Glu) single nucleotide variant Fanconi anemia [RCV002039197] Chr16:89745046 [GRCh38]
Chr16:89811454 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu) single nucleotide variant Fanconi anemia [RCV001943454] Chr16:89758636 [GRCh38]
Chr16:89825044 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr) single nucleotide variant Fanconi anemia [RCV001979764] Chr16:89738901 [GRCh38]
Chr16:89805309 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2834C>T (p.Ala945Val) single nucleotide variant Fanconi anemia [RCV001887512] Chr16:89761967 [GRCh38]
Chr16:89828375 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3116G>A (p.Gly1039Asp) single nucleotide variant Fanconi anemia [RCV002037394] Chr16:89749853 [GRCh38]
Chr16:89816261 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs) deletion Fanconi anemia [RCV001972224] Chr16:89746630..89746631 [GRCh38]
Chr16:89813038..89813039 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2333C>T (p.Ala778Val) single nucleotide variant Fanconi anemia [RCV002001062] Chr16:89770008 [GRCh38]
Chr16:89836416 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-3C>T single nucleotide variant Fanconi anemia [RCV001943573] Chr16:89770262 [GRCh38]
Chr16:89836670 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) single nucleotide variant Fanconi anemia [RCV001943582]|Fanconi anemia complementation group A [RCV003464242] Chr16:89791939 [GRCh38]
Chr16:89858347 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3305C>T (p.Thr1102Ile) single nucleotide variant Fanconi anemia [RCV001907011] Chr16:89748702 [GRCh38]
Chr16:89815110 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter) single nucleotide variant Fanconi anemia [RCV002000221] Chr16:89782892 [GRCh38]
Chr16:89849300 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89880918)_(89883024_?)del deletion Fanconi anemia [RCV001951368] Chr16:89880918..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr) single nucleotide variant Fanconi anemia [RCV002018927] Chr16:89740035 [GRCh38]
Chr16:89806443 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.583G>A (p.Glu195Lys) single nucleotide variant Fanconi anemia [RCV001999601] Chr16:89808307 [GRCh38]
Chr16:89874715 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu) single nucleotide variant Fanconi anemia [RCV002000691]|Fanconi anemia complementation group A [RCV002497948] Chr16:89771740 [GRCh38]
Chr16:89838148 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89858869)_(89883024_?)del deletion Fanconi anemia [RCV001963215] Chr16:89858869..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2419G>A (p.Ala807Thr) single nucleotide variant Fanconi anemia [RCV001943692] Chr16:89769922 [GRCh38]
Chr16:89836330 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1281G>A (p.Met427Ile) single nucleotide variant Fanconi anemia [RCV001955407] Chr16:89791481 [GRCh38]
Chr16:89857889 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3389T>C (p.Ile1130Thr) single nucleotide variant Fanconi anemia [RCV001923580] Chr16:89746850 [GRCh38]
Chr16:89813258 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs) microsatellite Fanconi anemia [RCV001941703] Chr16:89771801..89771802 [GRCh38]
Chr16:89838209..89838210 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.325G>A (p.Val109Met) single nucleotide variant Fanconi anemia [RCV001887129] Chr16:89811030 [GRCh38]
Chr16:89877438 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89805009)_(89831484_?)dup duplication Fanconi anemia [RCV002000255] Chr16:89805009..89831484 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89818536)_(89877489_?)del deletion Fanconi anemia [RCV001963253] Chr16:89818536..89877489 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1007-6C>G single nucleotide variant Fanconi anemia [RCV001943785] Chr16:89792553 [GRCh38]
Chr16:89858961 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.427-12CT[2] microsatellite Fanconi anemia [RCV002011549] Chr16:89810809..89810810 [GRCh38]
Chr16:89877217..89877218 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1826+6C>T single nucleotide variant Fanconi anemia [RCV001919119] Chr16:89778795 [GRCh38]
Chr16:89845203 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2852+3A>G single nucleotide variant Fanconi anemia [RCV001952909] Chr16:89761946 [GRCh38]
Chr16:89828354 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89818536)_(89846375_?)del deletion Fanconi anemia [RCV001951578] Chr16:89818536..89846375 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2132T>C (p.Leu711Pro) single nucleotide variant Fanconi anemia [RCV001990925] Chr16:89771697 [GRCh38]
Chr16:89838105 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3646G>T (p.Ala1216Ser) single nucleotide variant Fanconi anemia [RCV001933544] Chr16:89742919 [GRCh38]
Chr16:89809327 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.423_426+14del deletion Fanconi anemia [RCV002012876] Chr16:89810915..89810932 [GRCh38]
Chr16:89877323..89877340 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1717A>G (p.Ile573Val) single nucleotide variant Fanconi anemia [RCV001976524]|Inborn genetic diseases [RCV003355720] Chr16:89779002 [GRCh38]
Chr16:89845410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*732GA[2] microsatellite Fanconi anemia [RCV001867244] Chr16:89738977..89738978 [GRCh38]
Chr16:89805385..89805386 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1257C>G (p.Phe419Leu) single nucleotide variant Fanconi anemia [RCV001919148] Chr16:89791505 [GRCh38]
Chr16:89857913 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr) single nucleotide variant Fanconi anemia [RCV001897979]|Fanconi anemia complementation group A [RCV002490133] Chr16:89770606 [GRCh38]
Chr16:89837014 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.20C>G (p.Pro7Arg) single nucleotide variant Fanconi anemia [RCV001879044]|Inborn genetic diseases [RCV002551650]|not provided [RCV003478888] Chr16:89816596 [GRCh38]
Chr16:89883004 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2558G>A (p.Arg853Gln) single nucleotide variant Fanconi anemia [RCV001935793] Chr16:89767184 [GRCh38]
Chr16:89833592 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4358del (p.His1453fs) deletion Fanconi anemia [RCV001882290] Chr16:89738611 [GRCh38]
Chr16:89805019 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.374G>C (p.Cys125Ser) single nucleotide variant Fanconi anemia [RCV001870590] Chr16:89810981 [GRCh38]
Chr16:89877389 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1123T>A (p.Leu375Met) single nucleotide variant Fanconi anemia [RCV001935159] Chr16:89792029 [GRCh38]
Chr16:89858437 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3059G>C (p.Arg1020Thr) single nucleotide variant Fanconi anemia [RCV001932568] Chr16:89752145 [GRCh38]
Chr16:89818553 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.426+2T>A single nucleotide variant Fanconi anemia [RCV001974185] Chr16:89810927 [GRCh38]
Chr16:89877335 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2317-1G>A single nucleotide variant Fanconi anemia [RCV002032199] Chr16:89770025 [GRCh38]
Chr16:89836433 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2093A>C (p.Glu698Ala) single nucleotide variant Fanconi anemia [RCV002016855] Chr16:89771736 [GRCh38]
Chr16:89838144 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3189G>C (p.Trp1063Cys) single nucleotide variant Fanconi anemia [RCV001931486] Chr16:89749780 [GRCh38]
Chr16:89816188 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1769C>G (p.Pro590Arg) single nucleotide variant Fanconi anemia [RCV002028462] Chr16:89778950 [GRCh38]
Chr16:89845358 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.896_897delinsCT (p.Phe299Ser) indel Fanconi anemia [RCV001954648] Chr16:89796015..89796016 [GRCh38]
Chr16:89862423..89862424 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2564del (p.Thr855fs) deletion Fanconi anemia [RCV001950861] Chr16:89767178 [GRCh38]
Chr16:89833586 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3514-1G>T single nucleotide variant Fanconi anemia [RCV002027339] Chr16:89745072 [GRCh38]
Chr16:89811480 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1716-19C>G single nucleotide variant Fanconi anemia [RCV001950816] Chr16:89779022 [GRCh38]
Chr16:89845430 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+5G>A single nucleotide variant Fanconi anemia [RCV002026012] Chr16:89783002 [GRCh38]
Chr16:89849410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3270_3271del (p.Cys1091fs) microsatellite Fanconi anemia [RCV001880678] Chr16:89748736..89748737 [GRCh38]
Chr16:89815144..89815145 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.190-2_203del deletion Fanconi anemia [RCV002013340] Chr16:89814600..89814615 [GRCh38]
Chr16:89881008..89881023 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser) single nucleotide variant Fanconi anemia [RCV001879181]|Fanconi anemia complementation group A [RCV002471173] Chr16:89783075 [GRCh38]
Chr16:89849483 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser) single nucleotide variant Fanconi anemia [RCV001974621] Chr16:89749848 [GRCh38]
Chr16:89816256 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3935-2A>T single nucleotide variant Fanconi anemia [RCV001901150] Chr16:89739555 [GRCh38]
Chr16:89805963 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn) single nucleotide variant Fanconi anemia [RCV002051126]|Fanconi anemia complementation group A [RCV002254728] Chr16:89803284 [GRCh38]
Chr16:89869692 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3216G>C (p.Gln1072His) single nucleotide variant Fanconi anemia [RCV001881249] Chr16:89749753 [GRCh38]
Chr16:89816161 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.189+5G>A single nucleotide variant Fanconi anemia [RCV001917248] Chr16:89815872 [GRCh38]
Chr16:89882280 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1590_1591del (p.Tyr531fs) microsatellite Fanconi anemia [RCV001993157] Chr16:89782894..89782895 [GRCh38]
Chr16:89849302..89849303 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2765A>C (p.Glu922Ala) single nucleotide variant Fanconi anemia [RCV002048788] Chr16:89764903 [GRCh38]
Chr16:89831311 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.65G>C (p.Trp22Ser) single nucleotide variant Fanconi anemia [RCV001879636] Chr16:89816551 [GRCh38]
Chr16:89882959 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2505-18T>C single nucleotide variant Fanconi anemia [RCV001956147] Chr16:89767255 [GRCh38]
Chr16:89833663 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2399A>T (p.Glu800Val) single nucleotide variant Fanconi anemia [RCV001956706] Chr16:89769942 [GRCh38]
Chr16:89836350 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4298G>A (p.Ser1433Asn) single nucleotide variant Fanconi anemia [RCV001876934] Chr16:89738671 [GRCh38]
Chr16:89805079 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1158G>T (p.Trp386Cys) single nucleotide variant Fanconi anemia [RCV001952491] Chr16:89791994 [GRCh38]
Chr16:89858402 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89824976)_(89831435_?)del deletion Fanconi anemia [RCV002028826] Chr16:89824976..89831435 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.797C>T (p.Thr266Met) single nucleotide variant Fanconi anemia [RCV002012325]|Fanconi anemia complementation group A [RCV002492095] Chr16:89799634 [GRCh38]
Chr16:89866042 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1682C>G (p.Thr561Arg) single nucleotide variant Fanconi anemia [RCV001973446] Chr16:89779902 [GRCh38]
Chr16:89846310 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1513T>G (p.Ser505Ala) single nucleotide variant Fanconi anemia [RCV001897413] Chr16:89783060 [GRCh38]
Chr16:89849468 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val) single nucleotide variant Fanconi anemia [RCV001989310] Chr16:89738692 [GRCh38]
Chr16:89805100 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.667G>C (p.Ala223Pro) single nucleotide variant Fanconi anemia [RCV001991829] Chr16:89805322 [GRCh38]
Chr16:89871730 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.901G>A (p.Val301Met) single nucleotide variant Fanconi anemia [RCV001878286] Chr16:89796011 [GRCh38]
Chr16:89862419 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2689C>T (p.His897Tyr) single nucleotide variant Fanconi anemia [RCV001898751] Chr16:89764979 [GRCh38]
Chr16:89831387 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1093A>G (p.Met365Val) single nucleotide variant Fanconi anemia [RCV001918653] Chr16:89792059 [GRCh38]
Chr16:89858467 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter) single nucleotide variant Fanconi anemia [RCV001953882] Chr16:89805363 [GRCh38]
Chr16:89871771 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.78G>A (p.Leu26=) single nucleotide variant Fanconi anemia [RCV001993406] Chr16:89816538 [GRCh38]
Chr16:89882946 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3439G>C (p.Asp1147His) single nucleotide variant Fanconi anemia [RCV001977191] Chr16:89746658 [GRCh38]
Chr16:89813066 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3952C>G (p.Leu1318Val) single nucleotide variant Fanconi anemia [RCV001994239] Chr16:89739536 [GRCh38]
Chr16:89805944 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1738dup duplication Fanconi anemia [RCV001956235]|not provided [RCV003478905] Chr16:89739983..89739984 [GRCh38]
Chr16:89806391..89806392 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2365G>A (p.Val789Met) single nucleotide variant Fanconi anemia [RCV001978336] Chr16:89769976 [GRCh38]
Chr16:89836384 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs) duplication Fanconi anemia [RCV001865166] Chr16:89739183..89739184 [GRCh38]
Chr16:89805591..89805592 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3268C>T (p.Leu1090Phe) single nucleotide variant Fanconi anemia [RCV002027865] Chr16:89748739 [GRCh38]
Chr16:89815147 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4274G>C (p.Arg1425Pro) single nucleotide variant Fanconi anemia [RCV001920064] Chr16:89738695 [GRCh38]
Chr16:89805103 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter) single nucleotide variant Fanconi anemia [RCV001875644] Chr16:89808328 [GRCh38]
Chr16:89874736 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs) insertion Fanconi anemia [RCV001951428] Chr16:89742824..89742825 [GRCh38]
Chr16:89809232..89809233 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.283+5G>A single nucleotide variant Fanconi anemia [RCV001934643] Chr16:89814515 [GRCh38]
Chr16:89880923 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1567-7C>A single nucleotide variant Fanconi anemia [RCV002049039] Chr16:89782925 [GRCh38]
Chr16:89849333 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.596+6G>T single nucleotide variant Fanconi anemia [RCV001920187] Chr16:89808288 [GRCh38]
Chr16:89874696 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2023G>C (p.Ala675Pro) single nucleotide variant Fanconi anemia [RCV002049170] Chr16:89771806 [GRCh38]
Chr16:89838214 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.367C>G (p.Gln123Glu) single nucleotide variant Fanconi anemia [RCV001878607] Chr16:89810988 [GRCh38]
Chr16:89877396 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89816056)_(89849520_?)del deletion Fanconi anemia [RCV001994874] Chr16:89816056..89849520 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2947A>T (p.Ile983Phe) single nucleotide variant Fanconi anemia [RCV002046580] Chr16:89758611 [GRCh38]
Chr16:89825019 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val) single nucleotide variant Fanconi anemia [RCV001917627]|Fanconi anemia complementation group A [RCV002282639] Chr16:89738946 [GRCh38]
Chr16:89805354 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1921G>A (p.Ala641Thr) single nucleotide variant Fanconi anemia [RCV001877263] Chr16:89773364 [GRCh38]
Chr16:89839772 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1826+3A>G single nucleotide variant Fanconi anemia [RCV001901515] Chr16:89778798 [GRCh38]
Chr16:89845206 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89804999)_(89874785_?)del deletion Fanconi anemia [RCV001959023] Chr16:89804999..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3077C>T (p.Ala1026Val) single nucleotide variant Fanconi anemia [RCV001952962] Chr16:89749892 [GRCh38]
Chr16:89816300 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3109C>G (p.Pro1037Ala) single nucleotide variant Fanconi anemia [RCV002031705] Chr16:89749860 [GRCh38]
Chr16:89816268 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1786G>A (p.Val596Ile) single nucleotide variant Fanconi anemia [RCV002033646] Chr16:89778841 [GRCh38]
Chr16:89845249 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89836111)_(89858965_?)del deletion Fanconi anemia [RCV001959075] Chr16:89836111..89858965 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.737del (p.Gly246fs) deletion Fanconi anemia [RCV001940793] Chr16:89803314 [GRCh38]
Chr16:89869722 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3853T>C (p.Phe1285Leu) single nucleotide variant Fanconi anemia [RCV001916427] Chr16:89740075 [GRCh38]
Chr16:89806483 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4029T>G (p.His1343Gln) single nucleotide variant Fanconi anemia [RCV002012902] Chr16:89739271 [GRCh38]
Chr16:89805679 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1492C>G (p.Leu498Val) single nucleotide variant Fanconi anemia [RCV001906908] Chr16:89783081 [GRCh38]
Chr16:89849489 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.647G>C (p.Cys216Ser) single nucleotide variant Fanconi anemia [RCV001989807] Chr16:89805342 [GRCh38]
Chr16:89871750 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1225+13G>C single nucleotide variant Fanconi anemia [RCV001951798] Chr16:89791914 [GRCh38]
Chr16:89858322 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+1G>A single nucleotide variant Fanconi anemia [RCV002012997] Chr16:89775741 [GRCh38]
Chr16:89842149 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.844_845delinsTA (p.Ala282Tyr) indel Fanconi anemia [RCV001957722] Chr16:89799214..89799215 [GRCh38]
Chr16:89865622..89865623 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2096T>C (p.Ile699Thr) single nucleotide variant Fanconi anemia [RCV001904638] Chr16:89771733 [GRCh38]
Chr16:89838141 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2130A>T (p.Arg710Ser) single nucleotide variant Fanconi anemia [RCV001998812] Chr16:89771699 [GRCh38]
Chr16:89838107 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4186A>G (p.Ile1396Val) single nucleotide variant Fanconi anemia [RCV001999351] Chr16:89738956 [GRCh38]
Chr16:89805364 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.663G>A (p.Met221Ile) single nucleotide variant Fanconi anemia [RCV001953151] Chr16:89805326 [GRCh38]
Chr16:89871734 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3142C>G (p.Leu1048Val) single nucleotide variant Fanconi anemia [RCV001878876] Chr16:89749827 [GRCh38]
Chr16:89816235 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3865G>C (p.Ala1289Pro) single nucleotide variant Fanconi anemia [RCV001878988] Chr16:89740063 [GRCh38]
Chr16:89806471 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2750G>A (p.Arg917Gln) single nucleotide variant Fanconi anemia [RCV001957762] Chr16:89764918 [GRCh38]
Chr16:89831326 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1226-13G>A single nucleotide variant Fanconi anemia [RCV001997714]|Fanconi anemia complementation group A [RCV002463369] Chr16:89791549 [GRCh38]
Chr16:89857957 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3321G>T (p.Gln1107His) single nucleotide variant Fanconi anemia [RCV001981837] Chr16:89748686 [GRCh38]
Chr16:89815094 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1907C>T (p.Ala636Val) single nucleotide variant Fanconi anemia [RCV002050913] Chr16:89773378 [GRCh38]
Chr16:89839786 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.793-6T>C single nucleotide variant Fanconi anemia [RCV001918048] Chr16:89799644 [GRCh38]
Chr16:89866052 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.42C>G (p.Asp14Glu) single nucleotide variant Fanconi anemia [RCV001957844] Chr16:89816574 [GRCh38]
Chr16:89882982 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) single nucleotide variant Fanconi anemia [RCV001905260]|Fanconi anemia complementation group A [RCV003470974] Chr16:89739278 [GRCh38]
Chr16:89805686 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1739T>G (p.Val580Gly) single nucleotide variant Fanconi anemia [RCV001931451] Chr16:89778980 [GRCh38]
Chr16:89845388 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89869657)_(89871810_?)del deletion Fanconi anemia [RCV001931434] Chr16:89869657..89871810 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn) single nucleotide variant Fanconi anemia [RCV001886345]|not provided [RCV002272518] Chr16:89746663 [GRCh38]
Chr16:89813071 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.9:g.(?_89831215)_(89874785_?)del deletion Fanconi anemia [RCV002033160] Chr16:89831215..89874785 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1681A>T (p.Thr561Ser) single nucleotide variant Fanconi anemia [RCV001939219] Chr16:89779903 [GRCh38]
Chr16:89846311 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4T>G (p.Ser2Ala) single nucleotide variant Fanconi anemia [RCV001925306] Chr16:89816612 [GRCh38]
Chr16:89883020 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2222+1G>T single nucleotide variant Fanconi anemia [RCV002019041]|Fanconi anemia complementation group A [RCV003464346] Chr16:89770563 [GRCh38]
Chr16:89836971 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) single nucleotide variant Fanconi anemia [RCV001953458] Chr16:89748734 [GRCh38]
Chr16:89815142 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.453T>G (p.Phe151Leu) single nucleotide variant Fanconi anemia [RCV001866407] Chr16:89810776 [GRCh38]
Chr16:89877184 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.26C>G (p.Ser9Cys) single nucleotide variant Fanconi anemia [RCV002027416] Chr16:89816590 [GRCh38]
Chr16:89882998 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4138G>C (p.Ala1380Pro) single nucleotide variant Fanconi anemia [RCV001918285] Chr16:89739162 [GRCh38]
Chr16:89805570 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1083G>A (p.Arg361=) single nucleotide variant Fanconi anemia [RCV001980811] Chr16:89792471 [GRCh38]
Chr16:89858879 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1826+4T>G single nucleotide variant Fanconi anemia [RCV001971891] Chr16:89778797 [GRCh38]
Chr16:89845205 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3348+17C>T single nucleotide variant Fanconi anemia [RCV001898483] Chr16:89748642 [GRCh38]
Chr16:89815050 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3150G>C (p.Glu1050Asp) single nucleotide variant Fanconi anemia [RCV001879349] Chr16:89749819 [GRCh38]
Chr16:89816227 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1904C>A (p.Ala635Glu) single nucleotide variant Fanconi anemia [RCV002014833] Chr16:89773381 [GRCh38]
Chr16:89839789 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs) deletion Fanconi anemia [RCV001958747] Chr16:89748757..89748763 [GRCh38]
Chr16:89815165..89815171 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.894-20T>C single nucleotide variant Fanconi anemia [RCV001959987] Chr16:89796038 [GRCh38]
Chr16:89862446 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1083+5G>A single nucleotide variant Fanconi anemia [RCV001954949] Chr16:89792466 [GRCh38]
Chr16:89858874 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1213G>A single nucleotide variant Fanconi anemia [RCV002028793] Chr16:89739459 [GRCh38]
Chr16:89805867 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser) single nucleotide variant Fanconi anemia [RCV001996714] Chr16:89738615 [GRCh38]
Chr16:89805023 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2325C>T (p.Ser775=) single nucleotide variant Fanconi anemia [RCV001958820] Chr16:89770016 [GRCh38]
Chr16:89836424 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1094T>G (p.Met365Arg) single nucleotide variant Fanconi anemia [RCV001926023] Chr16:89792058 [GRCh38]
Chr16:89858466 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2216C>G (p.Pro739Arg) single nucleotide variant Fanconi anemia [RCV001930498] Chr16:89770570 [GRCh38]
Chr16:89836978 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2873C>T (p.Ala958Val) single nucleotide variant Fanconi anemia [RCV001899960] Chr16:89758685 [GRCh38]
Chr16:89825093 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val) single nucleotide variant Fanconi anemia [RCV001899920] Chr16:89738973 [GRCh38]
Chr16:89805381 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89824975)_(89883033_?)del deletion Fanconi anemia [RCV001958871] Chr16:89824975..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3586G>C (p.Glu1196Gln) single nucleotide variant Fanconi anemia [RCV001923677] Chr16:89744999 [GRCh38]
Chr16:89811407 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr) single nucleotide variant Fanconi anemia [RCV001940636]|Fanconi anemia complementation group A [RCV002484538] Chr16:89795918 [GRCh38]
Chr16:89862326 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.917C>G (p.Thr306Arg) single nucleotide variant Fanconi anemia [RCV001917443] Chr16:89795995 [GRCh38]
Chr16:89862403 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4255del (p.Ala1419fs) deletion Fanconi anemia [RCV001898811] Chr16:89738887 [GRCh38]
Chr16:89805295 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3910del (p.Ala1304fs) deletion Fanconi anemia [RCV001993272] Chr16:89740018 [GRCh38]
Chr16:89806426 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.283+1G>A single nucleotide variant Fanconi anemia [RCV001906162]|Fanconi anemia complementation group A [RCV003464213] Chr16:89814519 [GRCh38]
Chr16:89880927 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3125C>T (p.Pro1042Leu) single nucleotide variant Fanconi anemia [RCV001901403] Chr16:89749844 [GRCh38]
Chr16:89816252 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1046C>A (p.Ala349Glu) single nucleotide variant Fanconi anemia [RCV001976272] Chr16:89792508 [GRCh38]
Chr16:89858916 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.796_797delinsGA (p.Thr266Glu) indel Fanconi anemia [RCV001978317] Chr16:89799634..89799635 [GRCh38]
Chr16:89866042..89866043 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser) single nucleotide variant Fanconi anemia [RCV001905007]|Fanconi anemia complementation group A [RCV002482523] Chr16:89815957 [GRCh38]
Chr16:89882365 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3197C>G (p.Ala1066Gly) single nucleotide variant Fanconi anemia [RCV001924942] Chr16:89749772 [GRCh38]
Chr16:89816180 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-6C>G single nucleotide variant Fanconi anemia [RCV001961323] Chr16:89770265 [GRCh38]
Chr16:89836673 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4099C>G (p.Leu1367Val) single nucleotide variant Fanconi anemia [RCV001993440] Chr16:89739201 [GRCh38]
Chr16:89805609 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89842140)_(89845421_?)del deletion Fanconi anemia [RCV001956491] Chr16:89842140..89845421 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.17T>G (p.Val6Gly) single nucleotide variant Fanconi anemia [RCV001935866] Chr16:89816599 [GRCh38]
Chr16:89883007 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1471-14C>G single nucleotide variant Fanconi anemia [RCV001922183] Chr16:89783116 [GRCh38]
Chr16:89849524 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) single nucleotide variant Fanconi anemia [RCV001979879]|Fanconi anemia complementation group A [RCV002507672]|not provided [RCV003481210] Chr16:89739263 [GRCh38]
Chr16:89805671 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter) single nucleotide variant Fanconi anemia [RCV001939553] Chr16:89791409 [GRCh38]
Chr16:89857817 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys) single nucleotide variant Fanconi anemia [RCV001989566]|not provided [RCV003478921] Chr16:89738623 [GRCh38]
Chr16:89805031 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs) microsatellite Fanconi anemia [RCV001972472] Chr16:89778807..89778808 [GRCh38]
Chr16:89845215..89845216 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2896G>A (p.Glu966Lys) single nucleotide variant Fanconi anemia [RCV001897676] Chr16:89758662 [GRCh38]
Chr16:89825070 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.380C>T (p.Ala127Val) single nucleotide variant Fanconi anemia [RCV001900277] Chr16:89810975 [GRCh38]
Chr16:89877383 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3932G>A (p.Ser1311Asn) single nucleotide variant Fanconi anemia [RCV001932051] Chr16:89739996 [GRCh38]
Chr16:89806404 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.766A>G (p.Thr256Ala) single nucleotide variant Fanconi anemia [RCV001932117] Chr16:89803285 [GRCh38]
Chr16:89869693 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89845199)_(89871810_?)del deletion Fanconi anemia [RCV001953589] Chr16:89845199..89871810 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) duplication Fanconi anemia [RCV001993361]|Fanconi anemia complementation group A [RCV003471123] Chr16:89740004..89740005 [GRCh38]
Chr16:89806412..89806413 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.988C>G (p.His330Asp) single nucleotide variant Fanconi anemia [RCV001901474] Chr16:89795924 [GRCh38]
Chr16:89862332 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89828347)_(89842233_?)del deletion Fanconi anemia [RCV001972561] Chr16:89828347..89842233 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89845199)_(89877489_?)del deletion Fanconi anemia [RCV001951574] Chr16:89845199..89877489 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.923G>A (p.Gly308Asp) single nucleotide variant Fanconi anemia [RCV002017261] Chr16:89795989 [GRCh38]
Chr16:89862397 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89804999)_(89816320_?)del deletion Fanconi anemia [RCV001959084] Chr16:89804999..89816320 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2222+1G>A single nucleotide variant FANCA-related condition [RCV003395342]|Fanconi anemia [RCV002019381] Chr16:89770563 [GRCh38]
Chr16:89836971 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3514-6C>T single nucleotide variant Fanconi anemia [RCV001898873] Chr16:89745077 [GRCh38]
Chr16:89811485 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.9:g.(?_89871678)_(89877489_?)del deletion Fanconi anemia [RCV001953586] Chr16:89871678..89877489 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89818526)_(89874795_?)del deletion Fanconi anemia [RCV001953588] Chr16:89818526..89874795 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3912A>T (p.Ala1304=) single nucleotide variant Fanconi anemia [RCV001997228] Chr16:89740016 [GRCh38]
Chr16:89806424 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1097T>C (p.Leu366Pro) single nucleotide variant Fanconi anemia [RCV001903633] Chr16:89792055 [GRCh38]
Chr16:89858463 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.664G>A (p.Glu222Lys) single nucleotide variant Fanconi anemia [RCV001883530] Chr16:89805325 [GRCh38]
Chr16:89871733 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89824975)_(89828440_?)del deletion Fanconi anemia [RCV002035436] Chr16:89824975..89828440 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2257A>G (p.Met753Val) single nucleotide variant Fanconi anemia [RCV001981773]|Fanconi anemia complementation group A [RCV002484737] Chr16:89770225 [GRCh38]
Chr16:89836633 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.986C>T (p.Thr329Ile) single nucleotide variant Fanconi anemia [RCV001960935] Chr16:89795926 [GRCh38]
Chr16:89862334 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1400A>G (p.Lys467Arg) single nucleotide variant Fanconi anemia [RCV001926095] Chr16:89784924 [GRCh38]
Chr16:89851332 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) single nucleotide variant Fanconi anemia [RCV002017965]|Fanconi anemia complementation group A [RCV002486680] Chr16:89783096 [GRCh38]
Chr16:89849504 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.565G>C (p.Gly189Arg) single nucleotide variant Fanconi anemia [RCV002017986] Chr16:89808325 [GRCh38]
Chr16:89874733 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1780C>T (p.Pro594Ser) single nucleotide variant Fanconi anemia [RCV001938861] Chr16:89778847 [GRCh38]
Chr16:89845255 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2914G>A (p.Gly972Ser) single nucleotide variant Fanconi anemia [RCV001996748] Chr16:89758644 [GRCh38]
Chr16:89825052 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2066G>A (p.Gly689Asp) single nucleotide variant Fanconi anemia [RCV001959422] Chr16:89771763 [GRCh38]
Chr16:89838171 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile) single nucleotide variant Fanconi anemia [RCV002018481]|Fanconi anemia complementation group A [RCV002479785] Chr16:89792002 [GRCh38]
Chr16:89858410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3469G>T (p.Ala1157Ser) single nucleotide variant Fanconi anemia [RCV001980507] Chr16:89746628 [GRCh38]
Chr16:89813036 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro) single nucleotide variant Fanconi anemia [RCV001980940] Chr16:89791458 [GRCh38]
Chr16:89857866 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3757A>G (p.Arg1253Gly) single nucleotide variant Fanconi anemia [RCV001926090] Chr16:89742808 [GRCh38]
Chr16:89809216 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp) single nucleotide variant Fanconi anemia [RCV001884396] Chr16:89739998 [GRCh38]
Chr16:89806406 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.189+4A>G single nucleotide variant Fanconi anemia [RCV001905756] Chr16:89815873 [GRCh38]
Chr16:89882281 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr) single nucleotide variant Fanconi anemia [RCV002018411] Chr16:89740818 [GRCh38]
Chr16:89807226 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp) single nucleotide variant Fanconi anemia [RCV001939266] Chr16:89738882 [GRCh38]
Chr16:89805290 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter) single nucleotide variant Fanconi anemia [RCV001939484]|not provided [RCV003107917] Chr16:89742802 [GRCh38]
Chr16:89809210 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs) insertion Fanconi anemia [RCV001906832] Chr16:89752184..89752185 [GRCh38]
Chr16:89818592..89818593 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2332G>A (p.Ala778Thr) single nucleotide variant Fanconi anemia [RCV001951837] Chr16:89770009 [GRCh38]
Chr16:89836417 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3244C>T (p.Leu1082Phe) single nucleotide variant Fanconi anemia [RCV001867018] Chr16:89748763 [GRCh38]
Chr16:89815171 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1144C>G (p.Gln382Glu) single nucleotide variant Fanconi anemia [RCV001998950] Chr16:89792008 [GRCh38]
Chr16:89858416 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2689C>G (p.His897Asp) single nucleotide variant Fanconi anemia [RCV002019745] Chr16:89764979 [GRCh38]
Chr16:89831387 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.283+1_283+11del deletion Fanconi anemia [RCV002009595] Chr16:89814509..89814519 [GRCh38]
Chr16:89880917..89880927 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu) single nucleotide variant Fanconi anemia [RCV001952817]|Fanconi anemia complementation group A [RCV002507630] Chr16:89778833 [GRCh38]
Chr16:89845241 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1339del (p.Ser447fs) deletion Fanconi anemia [RCV001918541] Chr16:89791423 [GRCh38]
Chr16:89857831 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89836111)_(89883033_?)del deletion Fanconi anemia [RCV001956484] Chr16:89836111..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1195T>C (p.Cys399Arg) single nucleotide variant Fanconi anemia [RCV001993457] Chr16:89791957 [GRCh38]
Chr16:89858365 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3124C>T (p.Pro1042Ser) single nucleotide variant Fanconi anemia [RCV001917750] Chr16:89749845 [GRCh38]
Chr16:89816253 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2945C>G (p.Thr982Ser) single nucleotide variant Fanconi anemia [RCV001957910] Chr16:89758613 [GRCh38]
Chr16:89825021 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2505-1G>C single nucleotide variant Fanconi anemia [RCV002028818] Chr16:89767238 [GRCh38]
Chr16:89833646 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1816T>G (p.Ser606Ala) single nucleotide variant Fanconi anemia [RCV001870386] Chr16:89778811 [GRCh38]
Chr16:89845219 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2414C>T (p.Pro805Leu) single nucleotide variant Fanconi anemia [RCV001993569] Chr16:89769927 [GRCh38]
Chr16:89836335 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*471GAG[1] microsatellite Fanconi anemia [RCV002029069] Chr16:89738717..89738719 [GRCh38]
Chr16:89805125..89805127 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4159A>G (p.Lys1387Glu) single nucleotide variant Fanconi anemia [RCV002031818] Chr16:89739141 [GRCh38]
Chr16:89805549 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2395C>G (p.Pro799Ala) single nucleotide variant Fanconi anemia [RCV001922886] Chr16:89769946 [GRCh38]
Chr16:89836354 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4195G>A (p.Ala1399Thr) single nucleotide variant Fanconi anemia [RCV001899965] Chr16:89738947 [GRCh38]
Chr16:89805355 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup) duplication Fanconi anemia [RCV001922681] Chr16:89816587..89816588 [GRCh38]
Chr16:89882995..89882996 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3715G>A (p.Glu1239Lys) single nucleotide variant Fanconi anemia [RCV001881416] Chr16:89742850 [GRCh38]
Chr16:89809258 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs) deletion Fanconi anemia [RCV001930544] Chr16:89749798..89749807 [GRCh38]
Chr16:89816206..89816215 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2660A>G (p.Asp887Gly) single nucleotide variant Fanconi anemia [RCV001934272] Chr16:89765008 [GRCh38]
Chr16:89831416 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1127A>G (p.Gln376Arg) single nucleotide variant Fanconi anemia [RCV002013536] Chr16:89792025 [GRCh38]
Chr16:89858433 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys) single nucleotide variant Fanconi anemia [RCV001921531]|not provided [RCV002074440] Chr16:89742811 [GRCh38]
Chr16:89809219 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2336C>T (p.Pro779Leu) single nucleotide variant Fanconi anemia [RCV001958109] Chr16:89770005 [GRCh38]
Chr16:89836413 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89818536)_(89825128_?)del deletion Fanconi anemia [RCV001951328] Chr16:89818536..89825128 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys) single nucleotide variant Fanconi anemia [RCV001876702]|Fanconi anemia complementation group A [RCV003154045] Chr16:89808363 [GRCh38]
Chr16:89874771 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2318G>A (p.Gly773Asp) single nucleotide variant Fanconi anemia [RCV001994919] Chr16:89770023 [GRCh38]
Chr16:89836431 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2662G>C (p.Val888Leu) single nucleotide variant Fanconi anemia [RCV001996150] Chr16:89765006 [GRCh38]
Chr16:89831414 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.607A>G (p.Met203Val) single nucleotide variant Fanconi anemia [RCV001867496] Chr16:89805382 [GRCh38]
Chr16:89871790 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter) single nucleotide variant Fanconi anemia [RCV001921935] Chr16:89803299 [GRCh38]
Chr16:89869707 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2996A>G (p.Asp999Gly) single nucleotide variant Fanconi anemia [RCV001880537] Chr16:89752208 [GRCh38]
Chr16:89818616 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3970C>T (p.Pro1324Ser) single nucleotide variant Fanconi anemia [RCV001930862] Chr16:89739518 [GRCh38]
Chr16:89805926 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.494C>G (p.Ser165Cys) single nucleotide variant Fanconi anemia [RCV001881904] Chr16:89810735 [GRCh38]
Chr16:89877143 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.427-20A>G single nucleotide variant Fanconi anemia [RCV001922100] Chr16:89810822 [GRCh38]
Chr16:89877230 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2879A>G (p.His960Arg) single nucleotide variant Fanconi anemia [RCV001917238] Chr16:89758679 [GRCh38]
Chr16:89825087 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.848C>G (p.Ala283Gly) single nucleotide variant Fanconi anemia [RCV002029347] Chr16:89799211 [GRCh38]
Chr16:89865619 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter) single nucleotide variant Fanconi anemia [RCV001975171] Chr16:89810772 [GRCh38]
Chr16:89877180 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu) single nucleotide variant Fanconi anemia [RCV001978024] Chr16:89739489 [GRCh38]
Chr16:89805897 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1265G>A (p.Cys422Tyr) single nucleotide variant Fanconi anemia [RCV001958500] Chr16:89791497 [GRCh38]
Chr16:89857905 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1588C>G (p.Leu530Val) single nucleotide variant Fanconi anemia [RCV001916397] Chr16:89782897 [GRCh38]
Chr16:89849305 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.894-3C>T single nucleotide variant Fanconi anemia [RCV001995363] Chr16:89796021 [GRCh38]
Chr16:89862429 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89805009)_(89851382_?)del deletion Fanconi anemia [RCV001951474] Chr16:89805009..89851382 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr) single nucleotide variant Fanconi anemia [RCV001877811] Chr16:89738612 [GRCh38]
Chr16:89805020 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter) single nucleotide variant Fanconi anemia [RCV001919985] Chr16:89792484 [GRCh38]
Chr16:89858892 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89836962)_(89838232_?)del deletion Fanconi anemia [RCV001956094] Chr16:89836962..89838232 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1667T>C (p.Met556Thr) single nucleotide variant Fanconi anemia [RCV001977113] Chr16:89779917 [GRCh38]
Chr16:89846325 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.710-20_710-19del deletion Fanconi anemia [RCV002075411]|Fanconi anemia complementation group A [RCV002486849] Chr16:89803360..89803361 [GRCh38]
Chr16:89869768..89869769 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3765+16C>A single nucleotide variant Fanconi anemia [RCV002210296] Chr16:89742784 [GRCh38]
Chr16:89809192 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-16G>A single nucleotide variant Fanconi anemia [RCV002075483] Chr16:89742954 [GRCh38]
Chr16:89809362 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-20C>T single nucleotide variant Fanconi anemia [RCV002130818] Chr16:89765086 [GRCh38]
Chr16:89831494 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2981+12A>G single nucleotide variant Fanconi anemia [RCV002071812] Chr16:89758565 [GRCh38]
Chr16:89824973 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.552T>C (p.His184=) single nucleotide variant Fanconi anemia [RCV002185809] Chr16:89808338 [GRCh38]
Chr16:89874746 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.255C>T (p.Ala85=) single nucleotide variant Fanconi anemia [RCV002190257] Chr16:89814548 [GRCh38]
Chr16:89880956 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+12T>C single nucleotide variant Fanconi anemia [RCV002107172] Chr16:89769825 [GRCh38]
Chr16:89836233 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2853-15T>C single nucleotide variant Fanconi anemia [RCV002108389] Chr16:89758720 [GRCh38]
Chr16:89825128 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.630C>T (p.Leu210=) single nucleotide variant Fanconi anemia [RCV002110031] Chr16:89805359 [GRCh38]
Chr16:89871767 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-16G>C single nucleotide variant Fanconi anemia [RCV002085759] Chr16:89746704 [GRCh38]
Chr16:89813112 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-18C>T single nucleotide variant Fanconi anemia [RCV002105552]|Fanconi anemia complementation group A [RCV002494237] Chr16:89746706 [GRCh38]
Chr16:89813114 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4287C>T (p.Asp1429=) single nucleotide variant Fanconi anemia [RCV002073531] Chr16:89738682 [GRCh38]
Chr16:89805090 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1227C>T (p.Asp409=) single nucleotide variant Fanconi anemia [RCV002210374] Chr16:89791535 [GRCh38]
Chr16:89857943 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1665C>A (p.Ile555=) single nucleotide variant Fanconi anemia [RCV002075579] Chr16:89779919 [GRCh38]
Chr16:89846327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+10T>C single nucleotide variant Fanconi anemia [RCV002189247] Chr16:89769827 [GRCh38]
Chr16:89836235 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1086C>T (p.Leu362=) single nucleotide variant Fanconi anemia [RCV002089049] Chr16:89792066 [GRCh38]
Chr16:89858474 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3861T>A (p.Val1287=) single nucleotide variant Fanconi anemia [RCV002110563] Chr16:89740067 [GRCh38]
Chr16:89806475 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.792+15C>G single nucleotide variant Fanconi anemia [RCV002104296] Chr16:89803244 [GRCh38]
Chr16:89869652 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-20T>C single nucleotide variant Fanconi anemia [RCV002088759]|Fanconi anemia complementation group A [RCV002507951] Chr16:89779023 [GRCh38]
Chr16:89845431 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-17C>T single nucleotide variant Fanconi anemia [RCV002090362] Chr16:89773401 [GRCh38]
Chr16:89839809 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3021C>A (p.Val1007=) single nucleotide variant Fanconi anemia [RCV002090275] Chr16:89752183 [GRCh38]
Chr16:89818591 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-4C>G single nucleotide variant Fanconi anemia [RCV002186610] Chr16:89805396 [GRCh38]
Chr16:89871804 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.189+8G>A single nucleotide variant Fanconi anemia [RCV002075810] Chr16:89815869 [GRCh38]
Chr16:89882277 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1470+16C>T single nucleotide variant Fanconi anemia [RCV002208968] Chr16:89784838 [GRCh38]
Chr16:89851246 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.309A>C (p.Ser103=) single nucleotide variant Fanconi anemia [RCV002128592] Chr16:89811046 [GRCh38]
Chr16:89877454 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3577C>T (p.Leu1193=) single nucleotide variant Fanconi anemia [RCV002207892] Chr16:89745008 [GRCh38]
Chr16:89811416 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2625A>G single nucleotide variant Fanconi anemia [RCV002090689] Chr16:89740871 [GRCh38]
Chr16:89807279 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1173C>T (p.Ser391=) single nucleotide variant Fanconi anemia [RCV002075948] Chr16:89791979 [GRCh38]
Chr16:89858387 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3168C>G (p.Leu1056=) single nucleotide variant Fanconi anemia [RCV002145725] Chr16:89749801 [GRCh38]
Chr16:89816209 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.21G>C (p.Pro7=) single nucleotide variant Fanconi anemia [RCV002089213] Chr16:89816595 [GRCh38]
Chr16:89883003 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3582C>T (p.Pro1194=) single nucleotide variant Fanconi anemia [RCV002124330] Chr16:89745003 [GRCh38]
Chr16:89811411 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+20T>G single nucleotide variant Fanconi anemia [RCV002209215] Chr16:89808274 [GRCh38]
Chr16:89874682 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3802C>T (p.Leu1268=) single nucleotide variant Fanconi anemia [RCV002130527] Chr16:89740830 [GRCh38]
Chr16:89807238 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*473G>A single nucleotide variant Fanconi anemia [RCV002185289] Chr16:89738719 [GRCh38]
Chr16:89805127 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.459G>A (p.Gln153=) single nucleotide variant Fanconi anemia [RCV002206190]|not provided [RCV003408165] Chr16:89810770 [GRCh38]
Chr16:89877178 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2982-15G>A single nucleotide variant Fanconi anemia [RCV002188393] Chr16:89752237 [GRCh38]
Chr16:89818645 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.826+9A>G single nucleotide variant Fanconi anemia [RCV002111415] Chr16:89799596 [GRCh38]
Chr16:89866004 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+10T>C single nucleotide variant Fanconi anemia [RCV002087002] Chr16:89775732 [GRCh38]
Chr16:89842140 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1392C>A (p.Gly464=) single nucleotide variant Fanconi anemia [RCV002167583] Chr16:89784932 [GRCh38]
Chr16:89851340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3027T>G (p.Gly1009=) single nucleotide variant Fanconi anemia [RCV002191863] Chr16:89752177 [GRCh38]
Chr16:89818585 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*742A>G single nucleotide variant Fanconi anemia [RCV002111120] Chr16:89738988 [GRCh38]
Chr16:89805396 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3804G>C (p.Leu1268=) single nucleotide variant Fanconi anemia [RCV002209583] Chr16:89740828 [GRCh38]
Chr16:89807236 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3067-17A>G single nucleotide variant Fanconi anemia [RCV002091181] Chr16:89749919 [GRCh38]
Chr16:89816327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3408+9C>T single nucleotide variant Fanconi anemia [RCV002144867] Chr16:89746822 [GRCh38]
Chr16:89813230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1137G>A (p.Leu379=) single nucleotide variant Fanconi anemia [RCV002167260] Chr16:89792015 [GRCh38]
Chr16:89858423 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2745C>T (p.Thr915=) single nucleotide variant Fanconi anemia [RCV002207958] Chr16:89764923 [GRCh38]
Chr16:89831331 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1935T>G (p.Ser645=) single nucleotide variant Fanconi anemia [RCV002167198] Chr16:89773350 [GRCh38]
Chr16:89839758 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.709+8C>G single nucleotide variant Fanconi anemia [RCV002074769] Chr16:89805272 [GRCh38]
Chr16:89871680 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-20dup duplication Fanconi anemia [RCV002125275] Chr16:89808386..89808387 [GRCh38]
Chr16:89874794..89874795 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.433C>T (p.Leu145=) single nucleotide variant Fanconi anemia [RCV002209794] Chr16:89810796 [GRCh38]
Chr16:89877204 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.867C>T (p.Ser289=) single nucleotide variant Fanconi anemia [RCV002129503] Chr16:89799192 [GRCh38]
Chr16:89865600 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.826+13C>G single nucleotide variant Fanconi anemia [RCV002106897] Chr16:89799592 [GRCh38]
Chr16:89866000 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.624G>T (p.Ser208=) single nucleotide variant Fanconi anemia [RCV002187479] Chr16:89805365 [GRCh38]
Chr16:89871773 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-9_523-6del deletion Fanconi anemia [RCV002107799] Chr16:89808373..89808376 [GRCh38]
Chr16:89874781..89874784 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3504C>T (p.Thr1168=) single nucleotide variant Fanconi anemia [RCV002210617] Chr16:89746593 [GRCh38]
Chr16:89813001 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1776+13C>G single nucleotide variant Fanconi anemia [RCV002166065] Chr16:89778930 [GRCh38]
Chr16:89845338 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3123C>G (p.Thr1041=) single nucleotide variant Fanconi anemia [RCV002148274] Chr16:89749846 [GRCh38]
Chr16:89816254 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1776+15C>G single nucleotide variant Fanconi anemia [RCV002108660] Chr16:89778928 [GRCh38]
Chr16:89845336 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-13T>G single nucleotide variant Fanconi anemia [RCV002112293] Chr16:89805405 [GRCh38]
Chr16:89871813 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3108G>C (p.Val1036=) single nucleotide variant Fanconi anemia [RCV002125859] Chr16:89749861 [GRCh38]
Chr16:89816269 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.577C>T (p.Leu193=) single nucleotide variant Fanconi anemia [RCV002168142] Chr16:89808313 [GRCh38]
Chr16:89874721 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2151+10G>A single nucleotide variant Fanconi anemia [RCV002090430] Chr16:89771668 [GRCh38]
Chr16:89838076 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3552G>C (p.Arg1184=) single nucleotide variant Fanconi anemia [RCV002128864] Chr16:89745033 [GRCh38]
Chr16:89811441 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3456C>G (p.Val1152=) single nucleotide variant Fanconi anemia [RCV002130467] Chr16:89746641 [GRCh38]
Chr16:89813049 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2778+51_2778+133del deletion Fanconi anemia [RCV002148835] Chr16:89764757..89764839 [GRCh38]
Chr16:89831165..89831247 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3666G>T (p.Pro1222=) single nucleotide variant Fanconi anemia [RCV002073820] Chr16:89742899 [GRCh38]
Chr16:89809307 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2013T>C (p.Asp671=) single nucleotide variant Fanconi anemia complementation group A [RCV002208734] Chr16:89773272 [GRCh38]
Chr16:89839680 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3009T>C (p.Asn1003=) single nucleotide variant Fanconi anemia [RCV002110471] Chr16:89752195 [GRCh38]
Chr16:89818603 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.378G>C (p.Thr126=) single nucleotide variant Fanconi anemia [RCV002110509] Chr16:89810977 [GRCh38]
Chr16:89877385 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-18C>T single nucleotide variant Fanconi anemia [RCV002207417] Chr16:89799656 [GRCh38]
Chr16:89866064 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+12_2504+14del microsatellite Fanconi anemia [RCV002105543]|Fanconi anemia complementation group A [RCV002479907] Chr16:89769823..89769825 [GRCh38]
Chr16:89836231..89836233 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+18C>A single nucleotide variant Fanconi anemia [RCV002086501] Chr16:89749712 [GRCh38]
Chr16:89816120 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2208C>T (p.Val736=) single nucleotide variant Fanconi anemia [RCV002111064]|not provided [RCV003478935] Chr16:89770578 [GRCh38]
Chr16:89836986 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-29_1627-8del deletion Fanconi anemia [RCV002105712] Chr16:89779965..89779986 [GRCh38]
Chr16:89846373..89846394 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.987T>C (p.Thr329=) single nucleotide variant Fanconi anemia [RCV002110554] Chr16:89795925 [GRCh38]
Chr16:89862333 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.207T>C (p.Cys69=) single nucleotide variant FANCA-related condition [RCV003895961]|Fanconi anemia [RCV002145848]|Fanconi anemia complementation group A [RCV002494452] Chr16:89814596 [GRCh38]
Chr16:89881004 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1567-4G>A single nucleotide variant Fanconi anemia [RCV002090814] Chr16:89782922 [GRCh38]
Chr16:89849330 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*875C>T single nucleotide variant Fanconi anemia [RCV002168195] Chr16:89739121 [GRCh38]
Chr16:89805529 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-11C>G single nucleotide variant Fanconi anemia [RCV002087037] Chr16:89762033 [GRCh38]
Chr16:89828441 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2461del (p.Leu821fs) deletion not provided [RCV002224760] Chr16:89769880 [GRCh38]
Chr16:89836288 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3348+8C>G single nucleotide variant Fanconi anemia [RCV002209062] Chr16:89748651 [GRCh38]
Chr16:89815059 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2496C>T (p.Phe832=) single nucleotide variant Fanconi anemia [RCV002205479]|Fanconi anemia complementation group A [RCV002507916] Chr16:89769845 [GRCh38]
Chr16:89836253 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2205T>C (p.Ser735=) single nucleotide variant Fanconi anemia [RCV002205510] Chr16:89770581 [GRCh38]
Chr16:89836989 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.807A>C (p.Val269=) single nucleotide variant Fanconi anemia [RCV002088041] Chr16:89799624 [GRCh38]
Chr16:89866032 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1360-19C>T single nucleotide variant Fanconi anemia [RCV002169365] Chr16:89784983 [GRCh38]
Chr16:89851391 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+16A>G single nucleotide variant Fanconi anemia [RCV002206811] Chr16:89791387 [GRCh38]
Chr16:89857795 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1842C>T (p.Pro614=) single nucleotide variant Fanconi anemia [RCV002209523] Chr16:89775800 [GRCh38]
Chr16:89842208 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3081C>T (p.Asp1027=) single nucleotide variant Fanconi anemia [RCV002188784] Chr16:89749888 [GRCh38]
Chr16:89816296 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2067C>G (p.Gly689=) single nucleotide variant Fanconi anemia [RCV002191500] Chr16:89771762 [GRCh38]
Chr16:89838170 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3660C>T (p.Pro1220=) single nucleotide variant Fanconi anemia [RCV002129093] Chr16:89742905 [GRCh38]
Chr16:89809313 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1777-13T>C single nucleotide variant Fanconi anemia [RCV002109598] Chr16:89778863 [GRCh38]
Chr16:89845271 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3219G>A (p.Arg1073=) single nucleotide variant Fanconi anemia [RCV002187480] Chr16:89749750 [GRCh38]
Chr16:89816158 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1867G>A single nucleotide variant Fanconi anemia [RCV002205791] Chr16:89740113 [GRCh38]
Chr16:89806521 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+14C>A single nucleotide variant Fanconi anemia [RCV002147987] Chr16:89770550 [GRCh38]
Chr16:89836958 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1849C>T (p.Leu617=) single nucleotide variant Fanconi anemia [RCV002209953] Chr16:89775793 [GRCh38]
Chr16:89842201 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3036A>G (p.Thr1012=) single nucleotide variant Fanconi anemia [RCV002105568] Chr16:89752168 [GRCh38]
Chr16:89818576 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1932C>T (p.Asn644=) single nucleotide variant Fanconi anemia [RCV002107263] Chr16:89773353 [GRCh38]
Chr16:89839761 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2847T>C (p.Thr949=) single nucleotide variant Fanconi anemia [RCV002166510] Chr16:89761954 [GRCh38]
Chr16:89828362 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1715+15C>T single nucleotide variant Fanconi anemia [RCV002145370] Chr16:89779854 [GRCh38]
Chr16:89846262 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3945G>A (p.Leu1315=) single nucleotide variant Fanconi anemia [RCV002106872] Chr16:89739543 [GRCh38]
Chr16:89805951 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1806G>T (p.Ala602=) single nucleotide variant Fanconi anemia [RCV002104870] Chr16:89778821 [GRCh38]
Chr16:89845229 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2852+13A>T single nucleotide variant Fanconi anemia [RCV002129941]|Fanconi anemia complementation group A [RCV002500069] Chr16:89761936 [GRCh38]
Chr16:89828344 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-14G>C single nucleotide variant Fanconi anemia [RCV002128063] Chr16:89808381 [GRCh38]
Chr16:89874789 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*738A>G single nucleotide variant Fanconi anemia [RCV002071699] Chr16:89738984 [GRCh38]
Chr16:89805392 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1689C>T (p.Asn563=) single nucleotide variant Fanconi anemia [RCV002192447] Chr16:89779895 [GRCh38]
Chr16:89846303 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1084-13G>A single nucleotide variant Fanconi anemia [RCV002112147] Chr16:89792081 [GRCh38]
Chr16:89858489 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4014T>C (p.Leu1338=) single nucleotide variant Fanconi anemia [RCV002111367] Chr16:89739286 [GRCh38]
Chr16:89805694 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1739G>A single nucleotide variant Fanconi anemia [RCV002085382] Chr16:89739985 [GRCh38]
Chr16:89806393 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-16C>A single nucleotide variant Fanconi anemia [RCV002148484] Chr16:89779019 [GRCh38]
Chr16:89845427 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1629C>G (p.Pro543=) single nucleotide variant Fanconi anemia [RCV002169575] Chr16:89779955 [GRCh38]
Chr16:89846363 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3376C>T (p.Leu1126=) single nucleotide variant Fanconi anemia [RCV002105202] Chr16:89746863 [GRCh38]
Chr16:89813271 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-20G>C single nucleotide variant Fanconi anemia [RCV002106112] Chr16:89783122 [GRCh38]
Chr16:89849530 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-5_523-4dup duplication Fanconi anemia [RCV002186669] Chr16:89808370..89808371 [GRCh38]
Chr16:89874778..89874779 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+14del deletion Fanconi anemia [RCV002169737] Chr16:89791389 [GRCh38]
Chr16:89857797 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2635G>A single nucleotide variant Fanconi anemia [RCV002109970] Chr16:89740881 [GRCh38]
Chr16:89807289 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.342C>G (p.Ala114=) single nucleotide variant Fanconi anemia [RCV002116363] Chr16:89811013 [GRCh38]
Chr16:89877421 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-19C>T single nucleotide variant Fanconi anemia [RCV002116989] Chr16:89779976 [GRCh38]
Chr16:89846384 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-9_1471-6del microsatellite Fanconi anemia [RCV002080898] Chr16:89783108..89783111 [GRCh38]
Chr16:89849516..89849519 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+16A>G single nucleotide variant Fanconi anemia [RCV002078408] Chr16:89810913 [GRCh38]
Chr16:89877321 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4026C>T (p.Phe1342=) single nucleotide variant Fanconi anemia [RCV002174775] Chr16:89739274 [GRCh38]
Chr16:89805682 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2778+11G>A single nucleotide variant Fanconi anemia [RCV002216380] Chr16:89764879 [GRCh38]
Chr16:89831287 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-20T>A single nucleotide variant Fanconi anemia [RCV002127376]|Fanconi anemia complementation group A [RCV002480960] Chr16:89770654 [GRCh38]
Chr16:89837062 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.174T>C (p.Asn58=) single nucleotide variant Fanconi anemia [RCV002151155] Chr16:89815892 [GRCh38]
Chr16:89882300 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2151+20A>G single nucleotide variant Fanconi anemia [RCV002216174]|Fanconi anemia complementation group A [RCV002494107] Chr16:89771658 [GRCh38]
Chr16:89838066 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1567-18T>C single nucleotide variant Fanconi anemia [RCV002211518] Chr16:89782936 [GRCh38]
Chr16:89849344 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1371G>A (p.Gly457=) single nucleotide variant Fanconi anemia [RCV002151295] Chr16:89784953 [GRCh38]
Chr16:89851361 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3408+16A>G single nucleotide variant Fanconi anemia [RCV002078503]|Fanconi anemia complementation group A [RCV002494152] Chr16:89746815 [GRCh38]
Chr16:89813223 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-17C>T single nucleotide variant Fanconi anemia [RCV002215439] Chr16:89783119 [GRCh38]
Chr16:89849527 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-11C>T single nucleotide variant Fanconi anemia [RCV002165623] Chr16:89762033 [GRCh38]
Chr16:89828441 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4041C>T (p.Ala1347=) single nucleotide variant Fanconi anemia [RCV002212111] Chr16:89739259 [GRCh38]
Chr16:89805667 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-16C>G single nucleotide variant Fanconi anemia [RCV002134480] Chr16:89799248 [GRCh38]
Chr16:89865656 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1084-18C>T single nucleotide variant Fanconi anemia [RCV002097459] Chr16:89792086 [GRCh38]
Chr16:89858494 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1006+19C>A single nucleotide variant Fanconi anemia [RCV002153654] Chr16:89795887 [GRCh38]
Chr16:89862295 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-20T>C single nucleotide variant Fanconi anemia [RCV002211688] Chr16:89808387 [GRCh38]
Chr16:89874795 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+16A>T single nucleotide variant Fanconi anemia [RCV002130847] Chr16:89791387 [GRCh38]
Chr16:89857795 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2151+13G>A single nucleotide variant Fanconi anemia [RCV002130858] Chr16:89771665 [GRCh38]
Chr16:89838073 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-15_2505-13del deletion Fanconi anemia [RCV002095197] Chr16:89767250..89767252 [GRCh38]
Chr16:89833658..89833660 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1827-9G>A single nucleotide variant Fanconi anemia [RCV002127099] Chr16:89775824 [GRCh38]
Chr16:89842232 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3810G>C (p.Ser1270=) single nucleotide variant Fanconi anemia [RCV002078543] Chr16:89740822 [GRCh38]
Chr16:89807230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3626+13G>T single nucleotide variant Fanconi anemia [RCV002093262] Chr16:89744946 [GRCh38]
Chr16:89811354 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.710-16T>C single nucleotide variant Fanconi anemia [RCV002135170] Chr16:89803357 [GRCh38]
Chr16:89869765 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+19C>A single nucleotide variant Fanconi anemia [RCV002175015] Chr16:89782988 [GRCh38]
Chr16:89849396 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.561A>T (p.Val187=) single nucleotide variant Fanconi anemia [RCV002194796] Chr16:89808329 [GRCh38]
Chr16:89874737 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-19_523-16del microsatellite Fanconi anemia [RCV002125194] Chr16:89808383..89808386 [GRCh38]
Chr16:89874791..89874794 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+18G>C single nucleotide variant Fanconi anemia [RCV002206593] Chr16:89816519 [GRCh38]
Chr16:89882927 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1322_*1323delinsGA indel Fanconi anemia [RCV002093916] Chr16:89739568..89739569 [GRCh38]
Chr16:89805976..89805977 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3930G>A (p.Glu1310=) single nucleotide variant Fanconi anemia [RCV002114929] Chr16:89739998 [GRCh38]
Chr16:89806406 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-19G>T single nucleotide variant Fanconi anemia [RCV002134027]|Fanconi anemia complementation group A [RCV002500258] Chr16:89746909 [GRCh38]
Chr16:89813317 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3222G>A (p.Glu1074=) single nucleotide variant Fanconi anemia [RCV002080634] Chr16:89749747 [GRCh38]
Chr16:89816155 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3734A>G (p.Gln1245Arg) single nucleotide variant Fanconi anemia [RCV002094835] Chr16:89742831 [GRCh38]
Chr16:89809239 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+18T>A single nucleotide variant Fanconi anemia [RCV002109677] Chr16:89814502 [GRCh38]
Chr16:89880910 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-5T>C single nucleotide variant Fanconi anemia [RCV002148237] Chr16:89799237 [GRCh38]
Chr16:89865645 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.85A>C (p.Arg29=) single nucleotide variant Fanconi anemia [RCV002077015] Chr16:89815981 [GRCh38]
Chr16:89882389 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-10C>A single nucleotide variant Fanconi anemia [RCV002131476] Chr16:89792557 [GRCh38]
Chr16:89858965 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2034A>C (p.Ala678=) single nucleotide variant Fanconi anemia [RCV002171249] Chr16:89771795 [GRCh38]
Chr16:89838203 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.894-8A>C single nucleotide variant Fanconi anemia [RCV002079059] Chr16:89796026 [GRCh38]
Chr16:89862434 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-37TTGTTT[2] microsatellite Fanconi anemia [RCV002097355]|Fanconi anemia complementation group A [RCV002498316] Chr16:89808387..89808392 [GRCh38]
Chr16:89874795..89874800 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.492T>G (p.Leu164=) single nucleotide variant Fanconi anemia [RCV002172512] Chr16:89810737 [GRCh38]
Chr16:89877145 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3626+16G>A single nucleotide variant Fanconi anemia [RCV002172543] Chr16:89744943 [GRCh38]
Chr16:89811351 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2982-15G>T single nucleotide variant Fanconi anemia [RCV002094936] Chr16:89752237 [GRCh38]
Chr16:89818645 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1360-15C>G single nucleotide variant Fanconi anemia [RCV002164902] Chr16:89784979 [GRCh38]
Chr16:89851387 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-9T>C single nucleotide variant Fanconi anemia [RCV002078737] Chr16:89783111 [GRCh38]
Chr16:89849519 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2676C>G (p.Ser892=) single nucleotide variant Fanconi anemia [RCV002151571] Chr16:89764992 [GRCh38]
Chr16:89831400 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-12C>G single nucleotide variant Fanconi anemia [RCV002117319] Chr16:89799650 [GRCh38]
Chr16:89866058 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.2190G>A (p.Leu730=) single nucleotide variant Fanconi anemia [RCV002132857] Chr16:89770596 [GRCh38]
Chr16:89837004 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+9G>A single nucleotide variant Fanconi anemia [RCV002172721] Chr16:89816528 [GRCh38]
Chr16:89882936 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3216G>A (p.Gln1072=) single nucleotide variant Fanconi anemia [RCV002131611] Chr16:89749753 [GRCh38]
Chr16:89816161 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1827-4C>A single nucleotide variant Fanconi anemia [RCV002188789] Chr16:89775819 [GRCh38]
Chr16:89842227 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3240-17C>A single nucleotide variant Fanconi anemia [RCV002094287] Chr16:89748784 [GRCh38]
Chr16:89815192 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1084-7A>T single nucleotide variant Fanconi anemia [RCV002171440] Chr16:89792075 [GRCh38]
Chr16:89858483 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2748C>T (p.Phe916=) single nucleotide variant Fanconi anemia [RCV002093923] Chr16:89764920 [GRCh38]
Chr16:89831328 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-20G>A single nucleotide variant Fanconi anemia [RCV002206922]|Fanconi anemia complementation group A [RCV002498216] Chr16:89783122 [GRCh38]
Chr16:89849530 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-9C>T single nucleotide variant Fanconi anemia [RCV002172947] Chr16:89746899 [GRCh38]
Chr16:89813307 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3246C>G (p.Leu1082=) single nucleotide variant Fanconi anemia [RCV002078850] Chr16:89748761 [GRCh38]
Chr16:89815169 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1926A>G (p.Glu642=) single nucleotide variant Fanconi anemia [RCV002113904] Chr16:89773359 [GRCh38]
Chr16:89839767 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2841A>T (p.Ser947=) single nucleotide variant Fanconi anemia [RCV002113929] Chr16:89761960 [GRCh38]
Chr16:89828368 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*607_*630del deletion Fanconi anemia [RCV002152164] Chr16:89738851..89738874 [GRCh38]
Chr16:89805259..89805282 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser) single nucleotide variant Fanconi anemia [RCV002174875]|not provided [RCV003478928] Chr16:89739192 [GRCh38]
Chr16:89805600 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-20T>C single nucleotide variant Fanconi anemia [RCV002095516] Chr16:89762042 [GRCh38]
Chr16:89828450 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3477C>T (p.Cys1159=) single nucleotide variant Fanconi anemia [RCV002173094] Chr16:89746620 [GRCh38]
Chr16:89813028 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.190-20T>C single nucleotide variant Fanconi anemia [RCV002145238] Chr16:89814633 [GRCh38]
Chr16:89881041 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1062T>C single nucleotide variant Fanconi anemia [RCV002088786] Chr16:89739308 [GRCh38]
Chr16:89805716 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1739G>C single nucleotide variant Fanconi anemia [RCV002114113] Chr16:89739985 [GRCh38]
Chr16:89806393 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+20G>C single nucleotide variant Fanconi anemia [RCV002116273] Chr16:89749710 [GRCh38]
Chr16:89816118 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.522+10A>C single nucleotide variant Fanconi anemia [RCV002093449] Chr16:89810697 [GRCh38]
Chr16:89877105 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4278G>A (p.Gly1426=) single nucleotide variant Fanconi anemia [RCV002133368] Chr16:89738691 [GRCh38]
Chr16:89805099 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1704C>G (p.Val568=) single nucleotide variant Fanconi anemia [RCV002108616] Chr16:89779880 [GRCh38]
Chr16:89846288 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3499T>C (p.Leu1167=) single nucleotide variant Fanconi anemia [RCV002130407] Chr16:89746598 [GRCh38]
Chr16:89813006 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3417G>A (p.Leu1139=) single nucleotide variant Fanconi anemia [RCV002133310] Chr16:89746680 [GRCh38]
Chr16:89813088 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-16C>T single nucleotide variant Fanconi anemia [RCV002133686] Chr16:89799654 [GRCh38]
Chr16:89866062 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+9C>G single nucleotide variant Fanconi anemia [RCV002134847] Chr16:89810920 [GRCh38]
Chr16:89877328 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser) single nucleotide variant Fanconi anemia [RCV002097701]|Fanconi anemia complementation group A [RCV003154060] Chr16:89752196 [GRCh38]
Chr16:89818604 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.591G>A (p.Leu197=) single nucleotide variant Fanconi anemia [RCV002150808] Chr16:89808299 [GRCh38]
Chr16:89874707 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1827-19T>C single nucleotide variant Fanconi anemia [RCV002172072] Chr16:89775834 [GRCh38]
Chr16:89842242 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2317-10C>G single nucleotide variant Fanconi anemia [RCV002107382] Chr16:89770034 [GRCh38]
Chr16:89836442 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2635G>C single nucleotide variant Fanconi anemia [RCV002090525] Chr16:89740881 [GRCh38]
Chr16:89807289 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3243C>A (p.Ile1081=) single nucleotide variant Fanconi anemia [RCV002170628] Chr16:89748764 [GRCh38]
Chr16:89815172 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1047G>C single nucleotide variant Fanconi anemia [RCV002196041] Chr16:89739293 [GRCh38]
Chr16:89805701 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1728C>T single nucleotide variant Fanconi anemia [RCV002174712] Chr16:89739974 [GRCh38]
Chr16:89806382 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-5C>G single nucleotide variant Fanconi anemia [RCV002097472] Chr16:89742943 [GRCh38]
Chr16:89809351 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1052A>G single nucleotide variant Fanconi anemia [RCV002187922] Chr16:89739298 [GRCh38]
Chr16:89805706 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2403G>C (p.Val801=) single nucleotide variant Fanconi anemia [RCV002076585] Chr16:89769938 [GRCh38]
Chr16:89836346 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3067-20A>C single nucleotide variant Fanconi anemia [RCV002172465] Chr16:89749922 [GRCh38]
Chr16:89816330 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.525T>C (p.Ser175=) single nucleotide variant Fanconi anemia [RCV002150921] Chr16:89808365 [GRCh38]
Chr16:89874773 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-16C>T single nucleotide variant Fanconi anemia [RCV002079507] Chr16:89779019 [GRCh38]
Chr16:89845427 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.150C>T (p.Leu50=) single nucleotide variant Fanconi anemia [RCV002195287] Chr16:89815916 [GRCh38]
Chr16:89882324 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.999G>C (p.Val333=) single nucleotide variant Fanconi anemia [RCV002096596] Chr16:89795913 [GRCh38]
Chr16:89862321 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.684T>C (p.Ala228=) single nucleotide variant Fanconi anemia [RCV002090724] Chr16:89805305 [GRCh38]
Chr16:89871713 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3348+11C>G single nucleotide variant Fanconi anemia [RCV002194645] Chr16:89748648 [GRCh38]
Chr16:89815056 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2550C>T (p.Ser850=) single nucleotide variant Fanconi anemia [RCV002079418] Chr16:89767192 [GRCh38]
Chr16:89833600 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1776+11G>A single nucleotide variant Fanconi anemia [RCV002215097]|Fanconi anemia complementation group A [RCV002498249] Chr16:89778932 [GRCh38]
Chr16:89845340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1826+12C>G single nucleotide variant Fanconi anemia [RCV002134163] Chr16:89778789 [GRCh38]
Chr16:89845197 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3771G>A (p.Leu1257=) single nucleotide variant Fanconi anemia [RCV002087860] Chr16:89740861 [GRCh38]
Chr16:89807269 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.798G>A (p.Thr266=) single nucleotide variant Fanconi anemia [RCV002207862] Chr16:89799633 [GRCh38]
Chr16:89866041 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1063G>A single nucleotide variant Fanconi anemia [RCV002076116] Chr16:89739309 [GRCh38]
Chr16:89805717 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2778+20_2778+22del deletion Fanconi anemia [RCV002076125] Chr16:89764868..89764870 [GRCh38]
Chr16:89831276..89831278 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1752C>T (p.Leu584=) single nucleotide variant Fanconi anemia [RCV002093574] Chr16:89778967 [GRCh38]
Chr16:89845375 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1935T>C (p.Ser645=) single nucleotide variant Fanconi anemia [RCV002094589] Chr16:89773350 [GRCh38]
Chr16:89839758 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3447C>T (p.Ser1149=) single nucleotide variant Fanconi anemia [RCV002106515] Chr16:89746650 [GRCh38]
Chr16:89813058 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-17T>C single nucleotide variant Fanconi anemia [RCV002110877] Chr16:89745088 [GRCh38]
Chr16:89811496 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2317-6T>C single nucleotide variant Fanconi anemia [RCV002076503] Chr16:89770030 [GRCh38]
Chr16:89836438 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+20A>C single nucleotide variant Fanconi anemia [RCV002094669] Chr16:89767121 [GRCh38]
Chr16:89833529 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2639A>G single nucleotide variant Fanconi anemia [RCV002173016] Chr16:89740885 [GRCh38]
Chr16:89807293 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1578A>G (p.Glu526=) single nucleotide variant Fanconi anemia [RCV002089655] Chr16:89782907 [GRCh38]
Chr16:89849315 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3529C>T (p.Leu1177=) single nucleotide variant Fanconi anemia [RCV002151706] Chr16:89745056 [GRCh38]
Chr16:89811464 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3729G>A (p.Arg1243=) single nucleotide variant Fanconi anemia [RCV002095443] Chr16:89742836 [GRCh38]
Chr16:89809244 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+20C>T single nucleotide variant Fanconi anemia [RCV002115871] Chr16:89791907 [GRCh38]
Chr16:89858315 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2223-15C>T single nucleotide variant Fanconi anemia [RCV002096104] Chr16:89770274 [GRCh38]
Chr16:89836682 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-8T>C single nucleotide variant Fanconi anemia [RCV002187312] Chr16:89746898 [GRCh38]
Chr16:89813306 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2439T>G (p.Pro813=) single nucleotide variant Fanconi anemia [RCV002144785] Chr16:89769902 [GRCh38]
Chr16:89836310 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.543G>T (p.Ala181=) single nucleotide variant Fanconi anemia [RCV002116439] Chr16:89808347 [GRCh38]
Chr16:89874755 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.957C>T (p.Phe319=) single nucleotide variant Fanconi anemia [RCV002186153] Chr16:89795955 [GRCh38]
Chr16:89862363 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003460137] Chr16:89740081 [GRCh38]
Chr16:89806489 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1084-1G>T single nucleotide variant Fanconi anemia complementation group A [RCV003460138] Chr16:89792069 [GRCh38]
Chr16:89858477 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003460139] Chr16:89748688 [GRCh38]
Chr16:89815096 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs) indel Fanconi anemia complementation group A [RCV003460151] Chr16:89742800..89742802 [GRCh38]
Chr16:89809208..89809210 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003460155] Chr16:89745067 [GRCh38]
Chr16:89811475 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3514-1G>C single nucleotide variant Fanconi anemia complementation group A [RCV003460158] Chr16:89745072 [GRCh38]
Chr16:89811480 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1630del (p.His544fs) deletion Fanconi anemia complementation group A [RCV003460166] Chr16:89779954 [GRCh38]
Chr16:89846362 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2650del (p.Ser884fs) deletion Fanconi anemia complementation group A [RCV003460175] Chr16:89765018 [GRCh38]
Chr16:89831426 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3144C>G (p.Leu1048=) single nucleotide variant Fanconi anemia [RCV002092872] Chr16:89749825 [GRCh38]
Chr16:89816233 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1083+14G>C single nucleotide variant Fanconi anemia [RCV002092877] Chr16:89792457 [GRCh38]
Chr16:89858865 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.567C>G (p.Gly189=) single nucleotide variant Fanconi anemia [RCV002132606] Chr16:89808323 [GRCh38]
Chr16:89874731 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4296G>A (p.Val1432=) single nucleotide variant Fanconi anemia [RCV002194905] Chr16:89738673 [GRCh38]
Chr16:89805081 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2316+16A>T single nucleotide variant Fanconi anemia [RCV002173154] Chr16:89770150 [GRCh38]
Chr16:89836558 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1218G>A single nucleotide variant Fanconi anemia [RCV002109953] Chr16:89739464 [GRCh38]
Chr16:89805872 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1626+8T>A single nucleotide variant Fanconi anemia [RCV002193135] Chr16:89782851 [GRCh38]
Chr16:89849259 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2316+19G>A single nucleotide variant Fanconi anemia [RCV002173738] Chr16:89770147 [GRCh38]
Chr16:89836555 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1626+17C>T single nucleotide variant Fanconi anemia [RCV002205608] Chr16:89782842 [GRCh38]
Chr16:89849250 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.76C>T (p.Leu26=) single nucleotide variant Fanconi anemia [RCV002211573] Chr16:89816540 [GRCh38]
Chr16:89882948 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+17C>T single nucleotide variant Fanconi anemia [RCV002131588] Chr16:89770547 [GRCh38]
Chr16:89836955 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3348+20G>A single nucleotide variant Fanconi anemia [RCV002114105] Chr16:89748639 [GRCh38]
Chr16:89815047 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-17T>C single nucleotide variant Fanconi anemia [RCV002132092]|Fanconi anemia complementation group A [RCV002486896] Chr16:89792564 [GRCh38]
Chr16:89858972 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_000135.4(FANCA):c.2778+11G>T single nucleotide variant Fanconi anemia [RCV002079109] Chr16:89764879 [GRCh38]
Chr16:89831287 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.6C>A (p.Ser2=) single nucleotide variant Fanconi anemia [RCV002096227] Chr16:89816610 [GRCh38]
Chr16:89883018 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+13T>C single nucleotide variant Fanconi anemia [RCV002096889] Chr16:89746571 [GRCh38]
Chr16:89812979 [GRCh37]
Chr16:16q24.3		 benign
NM_001113525.2(ZNF276):c.*1215C>A single nucleotide variant Fanconi anemia [RCV002071668] Chr16:89739461 [GRCh38]
Chr16:89805869 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3471C>G (p.Ala1157=) single nucleotide variant Fanconi anemia [RCV002094950] Chr16:89746626 [GRCh38]
Chr16:89813034 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2127G>C (p.Pro709=) single nucleotide variant Fanconi anemia [RCV002151955] Chr16:89771702 [GRCh38]
Chr16:89838110 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1360-5C>T single nucleotide variant Fanconi anemia [RCV002096237] Chr16:89784969 [GRCh38]
Chr16:89851377 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1626+16C>A single nucleotide variant Fanconi anemia [RCV002215614] Chr16:89782843 [GRCh38]
Chr16:89849251 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1173C>G (p.Ser391=) single nucleotide variant Fanconi anemia [RCV002213080] Chr16:89791979 [GRCh38]
Chr16:89858387 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3360C>T (p.Cys1120=) single nucleotide variant Fanconi anemia [RCV002168150] Chr16:89746879 [GRCh38]
Chr16:89813287 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+15T>C single nucleotide variant Fanconi anemia [RCV002075447] Chr16:89767126 [GRCh38]
Chr16:89833534 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.144G>A (p.Val48=) single nucleotide variant Fanconi anemia [RCV002093130] Chr16:89815922 [GRCh38]
Chr16:89882330 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+13C>T single nucleotide variant Fanconi anemia [RCV002212857]|Fanconi anemia complementation group A [RCV002498226] Chr16:89810916 [GRCh38]
Chr16:89877324 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1851G>C (p.Leu617=) single nucleotide variant Fanconi anemia [RCV002149777] Chr16:89775791 [GRCh38]
Chr16:89842199 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1470+17C>T single nucleotide variant Fanconi anemia [RCV002094675] Chr16:89784837 [GRCh38]
Chr16:89851245 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3066+16C>T single nucleotide variant Fanconi anemia [RCV002116066] Chr16:89752122 [GRCh38]
Chr16:89818530 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2940G>A (p.Ala980=) single nucleotide variant Fanconi anemia [RCV002113326] Chr16:89758618 [GRCh38]
Chr16:89825026 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2667C>T (p.Ala889=) single nucleotide variant Fanconi anemia [RCV002193620] Chr16:89765001 [GRCh38]
Chr16:89831409 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.2253G>A (p.Arg751=) single nucleotide variant Fanconi anemia [RCV002096966] Chr16:89770229 [GRCh38]
Chr16:89836637 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4137A>G (p.Pro1379=) single nucleotide variant Fanconi anemia [RCV002093256] Chr16:89739163 [GRCh38]
Chr16:89805571 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.414T>G (p.Thr138=) single nucleotide variant Fanconi anemia [RCV002094402] Chr16:89810941 [GRCh38]
Chr16:89877349 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1777-7C>T single nucleotide variant Fanconi anemia [RCV002134784] Chr16:89778857 [GRCh38]
Chr16:89845265 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+7T>C single nucleotide variant Fanconi anemia [RCV002212085] Chr16:89775735 [GRCh38]
Chr16:89842143 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2778+14C>T single nucleotide variant Fanconi anemia [RCV002097043] Chr16:89764876 [GRCh38]
Chr16:89831284 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-20C>G single nucleotide variant Fanconi anemia [RCV002087653] Chr16:89742958 [GRCh38]
Chr16:89809366 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3589C>T (p.Leu1197=) single nucleotide variant Fanconi anemia [RCV002127220] Chr16:89744996 [GRCh38]
Chr16:89811404 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-14G>T single nucleotide variant Fanconi anemia [RCV002092277] Chr16:89811085 [GRCh38]
Chr16:89877493 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-17C>G single nucleotide variant Fanconi anemia [RCV002171037] Chr16:89799249 [GRCh38]
Chr16:89865657 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-19G>A single nucleotide variant Fanconi anemia [RCV002095849] Chr16:89765085 [GRCh38]
Chr16:89831493 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2964G>A (p.Leu988=) single nucleotide variant Fanconi anemia [RCV002094498] Chr16:89758594 [GRCh38]
Chr16:89825002 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3873C>A (p.Ile1291=) single nucleotide variant Fanconi anemia [RCV002152120] Chr16:89740055 [GRCh38]
Chr16:89806463 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-16T>C single nucleotide variant Fanconi anemia [RCV002195284] Chr16:89783118 [GRCh38]
Chr16:89849526 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3348+11C>T single nucleotide variant Fanconi anemia [RCV002131375] Chr16:89748648 [GRCh38]
Chr16:89815056 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.393C>A (p.Thr131=) single nucleotide variant Fanconi anemia [RCV002217982] Chr16:89810962 [GRCh38]
Chr16:89877370 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-11TC[2] microsatellite Fanconi anemia [RCV002119012] Chr16:89745077..89745078 [GRCh38]
Chr16:89811485..89811486 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-8G>A single nucleotide variant Fanconi anemia [RCV002083004] Chr16:89767245 [GRCh38]
Chr16:89833653 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3525G>C (p.Pro1175=) single nucleotide variant Fanconi anemia [RCV002180770] Chr16:89745060 [GRCh38]
Chr16:89811468 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2326C>T (p.Leu776=) single nucleotide variant Fanconi anemia [RCV002180776] Chr16:89770015 [GRCh38]
Chr16:89836423 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1084-14T>C single nucleotide variant Fanconi anemia [RCV002199449] Chr16:89792082 [GRCh38]
Chr16:89858490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-8G>T single nucleotide variant Fanconi anemia [RCV002137246] Chr16:89767245 [GRCh38]
Chr16:89833653 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3067-9C>G single nucleotide variant Fanconi anemia [RCV002117548] Chr16:89749911 [GRCh38]
Chr16:89816319 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+13G>C single nucleotide variant Fanconi anemia [RCV002180949] Chr16:89770551 [GRCh38]
Chr16:89836959 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-5C>G single nucleotide variant Fanconi anemia [RCV002157946]|Fanconi anemia complementation group A [RCV002494323] Chr16:89762027 [GRCh38]
Chr16:89828435 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1023G>A (p.Gln341=) single nucleotide variant Fanconi anemia [RCV002220687] Chr16:89792531 [GRCh38]
Chr16:89858939 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3126T>G (p.Pro1042=) single nucleotide variant Fanconi anemia [RCV002135667] Chr16:89749843 [GRCh38]
Chr16:89816251 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3765+16C>T single nucleotide variant Fanconi anemia [RCV002137293] Chr16:89742784 [GRCh38]
Chr16:89809192 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1221T>G (p.Leu407=) single nucleotide variant Fanconi anemia [RCV002179009] Chr16:89791931 [GRCh38]
Chr16:89858339 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2334C>T (p.Ala778=) single nucleotide variant Fanconi anemia [RCV002121695] Chr16:89770007 [GRCh38]
Chr16:89836415 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2688G>A (p.Leu896=) single nucleotide variant Fanconi anemia [RCV002177550] Chr16:89764980 [GRCh38]
Chr16:89831388 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1779C>A (p.Leu593=) single nucleotide variant Fanconi anemia [RCV002200144] Chr16:89778848 [GRCh38]
Chr16:89845256 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3348+19C>T single nucleotide variant Fanconi anemia [RCV002137804] Chr16:89748640 [GRCh38]
Chr16:89815048 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-10_827-9del microsatellite Fanconi anemia [RCV002137809] Chr16:89799241..89799242 [GRCh38]
Chr16:89865649..89865650 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.201A>C (p.Pro67=) single nucleotide variant Fanconi anemia [RCV002141420] Chr16:89814602 [GRCh38]
Chr16:89881010 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-14GT[3] microsatellite Fanconi anemia [RCV002217084] Chr16:89805399..89805400 [GRCh38]
Chr16:89871807..89871808 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1226-13G>C single nucleotide variant Fanconi anemia [RCV002120177] Chr16:89791549 [GRCh38]
Chr16:89857957 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.2985A>G (p.Ser995=) single nucleotide variant Fanconi anemia [RCV002221087] Chr16:89752219 [GRCh38]
Chr16:89818627 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1413C>G (p.Val471=) single nucleotide variant Fanconi anemia [RCV002102540] Chr16:89784911 [GRCh38]
Chr16:89851319 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+9T>A single nucleotide variant Fanconi anemia [RCV002137863] Chr16:89814511 [GRCh38]
Chr16:89880919 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-18A>G single nucleotide variant Fanconi anemia [RCV002082148] Chr16:89770652 [GRCh38]
Chr16:89837060 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2015-12C>T single nucleotide variant Fanconi anemia [RCV002082189] Chr16:89771826 [GRCh38]
Chr16:89838234 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-15C>T single nucleotide variant Fanconi anemia [RCV002176182] Chr16:89779972 [GRCh38]
Chr16:89846380 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+17_3513+19del deletion Fanconi anemia [RCV002156642] Chr16:89746565..89746567 [GRCh38]
Chr16:89812973..89812975 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3207T>C (p.Leu1069=) single nucleotide variant Fanconi anemia [RCV002100776] Chr16:89749762 [GRCh38]
Chr16:89816170 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2997C>T (p.Asp999=) single nucleotide variant Fanconi anemia [RCV002176368] Chr16:89752207 [GRCh38]
Chr16:89818615 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+18C>T single nucleotide variant Fanconi anemia [RCV002099104] Chr16:89773253 [GRCh38]
Chr16:89839661 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+16G>A single nucleotide variant Fanconi anemia [RCV002180153] Chr16:89775726 [GRCh38]
Chr16:89842134 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1518C>A (p.Leu506=) single nucleotide variant Fanconi anemia [RCV002099166] Chr16:89783055 [GRCh38]
Chr16:89849463 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1797C>T (p.Ser599=) single nucleotide variant Fanconi anemia [RCV002159004] Chr16:89778830 [GRCh38]
Chr16:89845238 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+9C>T single nucleotide variant Fanconi anemia [RCV002103129] Chr16:89791394 [GRCh38]
Chr16:89857802 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-17C>T single nucleotide variant Fanconi anemia [RCV002101342] Chr16:89746907 [GRCh38]
Chr16:89813315 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1512C>T (p.Arg504=) single nucleotide variant Fanconi anemia [RCV002140344] Chr16:89783061 [GRCh38]
Chr16:89849469 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-14G>A single nucleotide variant Fanconi anemia [RCV002160965] Chr16:89746904 [GRCh38]
Chr16:89813312 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*468AG[4] microsatellite Fanconi anemia [RCV002142715] Chr16:89738712..89738713 [GRCh38]
Chr16:89805120..89805121 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+14del deletion Fanconi anemia [RCV002119175] Chr16:89770550 [GRCh38]
Chr16:89836958 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.151C>G (p.Leu51Val) single nucleotide variant Fanconi anemia [RCV002258492] Chr16:89815915 [GRCh38]
Chr16:89882323 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2397A>G (p.Pro799=) single nucleotide variant Fanconi anemia [RCV002176923] Chr16:89769944 [GRCh38]
Chr16:89836352 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.573G>C (p.Val191=) single nucleotide variant Fanconi anemia [RCV002220083] Chr16:89808317 [GRCh38]
Chr16:89874725 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2877C>A (p.Ile959=) single nucleotide variant Fanconi anemia [RCV002159579] Chr16:89758681 [GRCh38]
Chr16:89825089 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.153G>A (p.Leu51=) single nucleotide variant Fanconi anemia [RCV002140946] Chr16:89815913 [GRCh38]
Chr16:89882321 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1776+13C>T single nucleotide variant Fanconi anemia [RCV002197755]|Fanconi anemia complementation group A [RCV002494103] Chr16:89778930 [GRCh38]
Chr16:89845338 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1223T>G single nucleotide variant Fanconi anemia [RCV002083196] Chr16:89739469 [GRCh38]
Chr16:89805877 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+7_1225+15del deletion Fanconi anemia [RCV002083246] Chr16:89791912..89791920 [GRCh38]
Chr16:89858320..89858328 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2982-17T>C single nucleotide variant Fanconi anemia [RCV002101834] Chr16:89752239 [GRCh38]
Chr16:89818647 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2196T>A (p.Ala732=) single nucleotide variant Fanconi anemia [RCV002154006] Chr16:89770590 [GRCh38]
Chr16:89836998 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2361G>C (p.Leu787=) single nucleotide variant Fanconi anemia [RCV002177243] Chr16:89769980 [GRCh38]
Chr16:89836388 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2015-9C>T single nucleotide variant Fanconi anemia [RCV002157927] Chr16:89771823 [GRCh38]
Chr16:89838231 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.522+13T>C single nucleotide variant Fanconi anemia [RCV002159859] Chr16:89810694 [GRCh38]
Chr16:89877102 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1542C>T (p.Ala514=) single nucleotide variant Fanconi anemia [RCV002137529] Chr16:89783031 [GRCh38]
Chr16:89849439 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.183G>A (p.Leu61=) single nucleotide variant Fanconi anemia [RCV002179256]|not provided [RCV003408160] Chr16:89815883 [GRCh38]
Chr16:89882291 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2730C>T (p.Leu910=) single nucleotide variant Fanconi anemia [RCV002123599] Chr16:89764938 [GRCh38]
Chr16:89831346 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2052G>T (p.Leu684=) single nucleotide variant Fanconi anemia [RCV002184750] Chr16:89771777 [GRCh38]
Chr16:89838185 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.486C>T (p.Ser162=) single nucleotide variant Fanconi anemia [RCV002163387]|not provided [RCV003478949] Chr16:89810743 [GRCh38]
Chr16:89877151 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2167C>T (p.Leu723=) single nucleotide variant Fanconi anemia [RCV002100241] Chr16:89770619 [GRCh38]
Chr16:89837027 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+6G>A single nucleotide variant not specified [RCV002247816] Chr16:89770558 [GRCh38]
Chr16:89836966 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1083+9A>T single nucleotide variant Fanconi anemia [RCV002204056] Chr16:89792462 [GRCh38]
Chr16:89858870 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-16T>G single nucleotide variant Fanconi anemia [RCV002143301]|Fanconi anemia complementation group A [RCV002500286] Chr16:89765082 [GRCh38]
Chr16:89831490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3612G>A (p.Arg1204=) single nucleotide variant FANCA-related condition [RCV003978875]|Fanconi anemia [RCV002163651] Chr16:89744973 [GRCh38]
Chr16:89811381 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1680T>C (p.His560=) single nucleotide variant Fanconi anemia [RCV002083899] Chr16:89779904 [GRCh38]
Chr16:89846312 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-5C>T single nucleotide variant Fanconi anemia [RCV002156531] Chr16:89783107 [GRCh38]
Chr16:89849515 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2703A>G (p.Ala901=) single nucleotide variant Fanconi anemia [RCV002136000] Chr16:89764965 [GRCh38]
Chr16:89831373 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3348+12G>A single nucleotide variant Fanconi anemia [RCV002100427] Chr16:89748647 [GRCh38]
Chr16:89815055 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1587A>T (p.Gly529=) single nucleotide variant Fanconi anemia [RCV002163815] Chr16:89782898 [GRCh38]
Chr16:89849306 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3177G>T (p.Leu1059=) single nucleotide variant Fanconi anemia [RCV002175984] Chr16:89749792 [GRCh38]
Chr16:89816200 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-8G>C single nucleotide variant Fanconi anemia [RCV002136122] Chr16:89767245 [GRCh38]
Chr16:89833653 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2268T>G (p.Arg756=) single nucleotide variant Fanconi anemia [RCV002143491] Chr16:89770214 [GRCh38]
Chr16:89836622 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1715+15C>A single nucleotide variant Fanconi anemia [RCV002217316] Chr16:89779854 [GRCh38]
Chr16:89846262 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-8C>T single nucleotide variant Fanconi anemia [RCV002141967] Chr16:89815994 [GRCh38]
Chr16:89882402 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3726C>A (p.Ile1242=) single nucleotide variant Fanconi anemia [RCV002219448] Chr16:89742839 [GRCh38]
Chr16:89809247 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+13C>T single nucleotide variant Fanconi anemia [RCV002102800] Chr16:89791390 [GRCh38]
Chr16:89857798 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.999G>A (p.Val333=) single nucleotide variant Fanconi anemia [RCV002180059] Chr16:89795913 [GRCh38]
Chr16:89862321 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.321T>C (p.Val107=) single nucleotide variant Fanconi anemia [RCV002183771] Chr16:89811034 [GRCh38]
Chr16:89877442 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2199C>T (p.Ala733=) single nucleotide variant Fanconi anemia [RCV002120518] Chr16:89770587 [GRCh38]
Chr16:89836995 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3810G>T (p.Ser1270=) single nucleotide variant Fanconi anemia [RCV002217644] Chr16:89740822 [GRCh38]
Chr16:89807230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1567-13G>A single nucleotide variant Fanconi anemia [RCV002120640] Chr16:89782931 [GRCh38]
Chr16:89849339 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-15A>G single nucleotide variant Fanconi anemia [RCV002202756] Chr16:89799653 [GRCh38]
Chr16:89866061 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2457C>T (p.Asp819=) single nucleotide variant Fanconi anemia [RCV002142252] Chr16:89769884 [GRCh38]
Chr16:89836292 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3003A>C (p.Ser1001=) single nucleotide variant Fanconi anemia [RCV002217830] Chr16:89752201 [GRCh38]
Chr16:89818609 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1938T>C (p.Ala646=) single nucleotide variant Fanconi anemia [RCV002101233] Chr16:89773347 [GRCh38]
Chr16:89839755 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1773A>C (p.Arg591=) single nucleotide variant Fanconi anemia [RCV002140381] Chr16:89778946 [GRCh38]
Chr16:89845354 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1378C>A (p.Arg460=) single nucleotide variant Fanconi anemia [RCV002164528] Chr16:89784946 [GRCh38]
Chr16:89851354 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.495del (p.Phe166fs) deletion Fanconi anemia complementation group A [RCV002254005] Chr16:89810734 [GRCh38]
Chr16:89877142 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1359+10C>G single nucleotide variant Fanconi anemia [RCV002155429] Chr16:89791393 [GRCh38]
Chr16:89857801 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.312G>A (p.Arg104=) single nucleotide variant Fanconi anemia [RCV002138648] Chr16:89811043 [GRCh38]
Chr16:89877451 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3003A>T (p.Ser1001=) single nucleotide variant Fanconi anemia [RCV002184247] Chr16:89752201 [GRCh38]
Chr16:89818609 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.970C>T (p.Leu324=) single nucleotide variant Fanconi anemia [RCV002184252] Chr16:89795942 [GRCh38]
Chr16:89862350 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3084G>A (p.Leu1028=) single nucleotide variant Fanconi anemia [RCV002164614] Chr16:89749885 [GRCh38]
Chr16:89816293 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3951G>A (p.Arg1317=) single nucleotide variant Fanconi anemia [RCV002099496] Chr16:89739537 [GRCh38]
Chr16:89805945 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4053G>A (p.Glu1351=) single nucleotide variant Fanconi anemia [RCV002103405] Chr16:89739247 [GRCh38]
Chr16:89805655 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3441C>T (p.Asp1147=) single nucleotide variant Fanconi anemia [RCV002143876] Chr16:89746656 [GRCh38]
Chr16:89813064 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.894-15C>T single nucleotide variant Fanconi anemia [RCV002082933] Chr16:89796033 [GRCh38]
Chr16:89862441 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2542G>A single nucleotide variant Fanconi anemia [RCV002160842] Chr16:89740788 [GRCh38]
Chr16:89807196 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-8_1901-6del microsatellite Fanconi anemia [RCV002182212] Chr16:89773390..89773392 [GRCh38]
Chr16:89839798..89839800 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+13G>A single nucleotide variant Fanconi anemia [RCV002097838] Chr16:89791914 [GRCh38]
Chr16:89858322 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1084-7del deletion Fanconi anemia [RCV002121261] Chr16:89792075 [GRCh38]
Chr16:89858483 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2778+18C>G single nucleotide variant Fanconi anemia [RCV002220292] Chr16:89764872 [GRCh38]
Chr16:89831280 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3543G>T (p.Leu1181=) single nucleotide variant Fanconi anemia [RCV002182313] Chr16:89745042 [GRCh38]
Chr16:89811450 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+17G>T single nucleotide variant Fanconi anemia [RCV002101866] Chr16:89816520 [GRCh38]
Chr16:89882928 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*480G>C single nucleotide variant Fanconi anemia [RCV002216613] Chr16:89738726 [GRCh38]
Chr16:89805134 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.642G>C (p.Leu214=) single nucleotide variant Fanconi anemia [RCV002182409] Chr16:89805347 [GRCh38]
Chr16:89871755 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1567-15G>C single nucleotide variant Fanconi anemia [RCV002161120] Chr16:89782933 [GRCh38]
Chr16:89849341 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+12C>G single nucleotide variant Fanconi anemia [RCV002081477] Chr16:89814508 [GRCh38]
Chr16:89880916 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-8C>T single nucleotide variant Fanconi anemia [RCV002121540] Chr16:89770642 [GRCh38]
Chr16:89837050 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.18C>T (p.Val6=) single nucleotide variant Fanconi anemia [RCV002163151] Chr16:89816598 [GRCh38]
Chr16:89883006 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-8T>C single nucleotide variant Fanconi anemia [RCV002216792] Chr16:89765074 [GRCh38]
Chr16:89831482 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_000135.4(FANCA):c.3240-17C>T single nucleotide variant Fanconi anemia [RCV002201760] Chr16:89748784 [GRCh38]
Chr16:89815192 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3591G>C (p.Leu1197=) single nucleotide variant Fanconi anemia [RCV002144523] Chr16:89744994 [GRCh38]
Chr16:89811402 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.381T>C (p.Ala127=) single nucleotide variant Fanconi anemia [RCV002103705] Chr16:89810974 [GRCh38]
Chr16:89877382 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3384G>A (p.Gln1128=) single nucleotide variant Fanconi anemia [RCV002102211]|not provided [RCV003456514] Chr16:89746855 [GRCh38]
Chr16:89813263 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4272T>C (p.Asp1424=) single nucleotide variant Fanconi anemia [RCV002159560] Chr16:89738697 [GRCh38]
Chr16:89805105 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-8T>C single nucleotide variant Fanconi anemia [RCV002144678] Chr16:89746696 [GRCh38]
Chr16:89813104 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2981+9C>A single nucleotide variant Fanconi anemia [RCV002156466] Chr16:89758568 [GRCh38]
Chr16:89824976 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1425G>A (p.Thr475=) single nucleotide variant Fanconi anemia [RCV002156498] Chr16:89784899 [GRCh38]
Chr16:89851307 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+20C>A single nucleotide variant Fanconi anemia [RCV002121885] Chr16:89791907 [GRCh38]
Chr16:89858315 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-18G>C single nucleotide variant Fanconi anemia [RCV002100467]|Fanconi anemia complementation group A [RCV002499931] Chr16:89765084 [GRCh38]
Chr16:89831492 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+18C>T single nucleotide variant Fanconi anemia [RCV002139532] Chr16:89767123 [GRCh38]
Chr16:89833531 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1692C>T (p.Ile564=) single nucleotide variant Fanconi anemia [RCV002139715] Chr16:89779892 [GRCh38]
Chr16:89846300 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2371C>T (p.Leu791=) single nucleotide variant Fanconi anemia [RCV002120099] Chr16:89769970 [GRCh38]
Chr16:89836378 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1581C>T (p.Asn527=) single nucleotide variant Fanconi anemia [RCV002123387] Chr16:89782904 [GRCh38]
Chr16:89849312 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2015-16G>C single nucleotide variant Fanconi anemia [RCV002143025] Chr16:89771830 [GRCh38]
Chr16:89838238 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-5T>C single nucleotide variant Fanconi anemia [RCV002084124] Chr16:89767242 [GRCh38]
Chr16:89833650 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.792+11A>G single nucleotide variant Fanconi anemia [RCV002202271] Chr16:89803248 [GRCh38]
Chr16:89869656 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1741_*1742del deletion Fanconi anemia [RCV002098872] Chr16:89739986..89739987 [GRCh38]
Chr16:89806394..89806395 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2809C>T (p.Leu937=) single nucleotide variant Fanconi anemia [RCV002138266] Chr16:89761992 [GRCh38]
Chr16:89828400 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_000135.4(FANCA):c.2778+19_2778+101del deletion Fanconi anemia [RCV002219384] Chr16:89764789..89764871 [GRCh38]
Chr16:89831197..89831279 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.204G>A (p.Leu68=) single nucleotide variant Fanconi anemia [RCV002181285] Chr16:89814599 [GRCh38]
Chr16:89881007 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1170C>G (p.Leu390=) single nucleotide variant Fanconi anemia [RCV002203891] Chr16:89791982 [GRCh38]
Chr16:89858390 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.789G>T (p.Pro263=) single nucleotide variant Fanconi anemia [RCV002118690] Chr16:89803262 [GRCh38]
Chr16:89869670 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.151C>T (p.Leu51=) single nucleotide variant Fanconi anemia [RCV002157116] Chr16:89815915 [GRCh38]
Chr16:89882323 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2289C>A (p.Thr763=) single nucleotide variant Fanconi anemia [RCV002138578] Chr16:89770193 [GRCh38]
Chr16:89836601 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*474G>A single nucleotide variant Fanconi anemia [RCV002124001] Chr16:89738720 [GRCh38]
Chr16:89805128 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4269T>C (p.Ala1423=) single nucleotide variant Fanconi anemia [RCV002124002] Chr16:89738700 [GRCh38]
Chr16:89805108 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+12T>A single nucleotide variant Fanconi anemia [RCV002143588]|not provided [RCV002261456] Chr16:89773259 [GRCh38]
Chr16:89839667 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.709+13C>T single nucleotide variant Fanconi anemia [RCV002120972] Chr16:89805267 [GRCh38]
Chr16:89871675 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4347C>A (p.Ser1449=) single nucleotide variant Fanconi anemia [RCV002160527] Chr16:89738622 [GRCh38]
Chr16:89805030 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1776+9G>A single nucleotide variant Fanconi anemia [RCV002155526] Chr16:89778934 [GRCh38]
Chr16:89845342 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.63C>T (p.Ala21=) single nucleotide variant Fanconi anemia [RCV002101494] Chr16:89816553 [GRCh38]
Chr16:89882961 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4200T>C (p.Arg1400=) single nucleotide variant Fanconi anemia [RCV002155708] Chr16:89738942 [GRCh38]
Chr16:89805350 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-18C>A single nucleotide variant Fanconi anemia [RCV002184836] Chr16:89799656 [GRCh38]
Chr16:89866064 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1077C>T (p.Tyr359=) single nucleotide variant Fanconi anemia [RCV002119418] Chr16:89792477 [GRCh38]
Chr16:89858885 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2797T>C (p.Leu933=) single nucleotide variant Fanconi anemia [RCV002201954]|not provided [RCV003478950] Chr16:89762004 [GRCh38]
Chr16:89828412 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2370C>T (p.His790=) single nucleotide variant Fanconi anemia [RCV002183114] Chr16:89769971 [GRCh38]
Chr16:89836379 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-12C>T single nucleotide variant Fanconi anemia [RCV002157910] Chr16:89799650 [GRCh38]
Chr16:89866058 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3954C>T (p.Leu1318=) single nucleotide variant Fanconi anemia [RCV002220889] Chr16:89739534 [GRCh38]
Chr16:89805942 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+20del deletion Fanconi anemia [RCV002181128] Chr16:89791907 [GRCh38]
Chr16:89858315 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4038G>T (p.Ala1346=) single nucleotide variant Fanconi anemia [RCV002218932] Chr16:89739262 [GRCh38]
Chr16:89805670 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1776+8T>G single nucleotide variant Fanconi anemia [RCV002200258] Chr16:89778935 [GRCh38]
Chr16:89845343 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3186G>T (p.Gly1062=) single nucleotide variant Fanconi anemia [RCV002183361] Chr16:89749783 [GRCh38]
Chr16:89816191 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2892C>A (p.Leu964=) single nucleotide variant Fanconi anemia [RCV002104150] Chr16:89758666 [GRCh38]
Chr16:89825074 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*616G>A single nucleotide variant Fanconi anemia [RCV002139782] Chr16:89738862 [GRCh38]
Chr16:89805270 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+9C>A single nucleotide variant Fanconi anemia [RCV002135856] Chr16:89791394 [GRCh38]
Chr16:89857802 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-11T>C single nucleotide variant Fanconi anemia [RCV002103991] Chr16:89799649 [GRCh38]
Chr16:89866057 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.672C>G (p.Ser224=) single nucleotide variant Fanconi anemia [RCV002198444] Chr16:89805317 [GRCh38]
Chr16:89871725 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4155G>A (p.Glu1385=) single nucleotide variant Fanconi anemia [RCV002156664] Chr16:89739145 [GRCh38]
Chr16:89805553 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3096A>G (p.Gln1032=) single nucleotide variant Fanconi anemia [RCV002098826] Chr16:89749873 [GRCh38]
Chr16:89816281 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+20C>G single nucleotide variant Fanconi anemia [RCV002098797] Chr16:89773251 [GRCh38]
Chr16:89839659 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.909T>C (p.Ser303=) single nucleotide variant Fanconi anemia [RCV002122114] Chr16:89796003 [GRCh38]
Chr16:89862411 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1284C>T (p.Val428=) single nucleotide variant Fanconi anemia [RCV002120480] Chr16:89791478 [GRCh38]
Chr16:89857886 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1440C>G (p.Leu480=) single nucleotide variant Fanconi anemia [RCV002180016] Chr16:89784884 [GRCh38]
Chr16:89851292 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.588G>T (p.Leu196=) single nucleotide variant Fanconi anemia [RCV002200940] Chr16:89808302 [GRCh38]
Chr16:89874710 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3240-4C>G single nucleotide variant Fanconi anemia [RCV002123901] Chr16:89748771 [GRCh38]
Chr16:89815179 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.891C>T (p.Cys297=) single nucleotide variant Fanconi anemia [RCV002103005] Chr16:89799168 [GRCh38]
Chr16:89865576 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3876C>T (p.Leu1292=) single nucleotide variant Fanconi anemia [RCV002182137]|not provided [RCV003478927] Chr16:89740052 [GRCh38]
Chr16:89806460 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.471A>G (p.Ala157=) single nucleotide variant Fanconi anemia [RCV002158971] Chr16:89810758 [GRCh38]
Chr16:89877166 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.406C>T (p.Leu136=) single nucleotide variant Fanconi anemia [RCV002103158] Chr16:89810949 [GRCh38]
Chr16:89877357 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1071A>G (p.Ser357=) single nucleotide variant Fanconi anemia [RCV002155540] Chr16:89792483 [GRCh38]
Chr16:89858891 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4183C>T (p.Leu1395=) single nucleotide variant Fanconi anemia [RCV002204843] Chr16:89738959 [GRCh38]
Chr16:89805367 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.984C>T (p.Leu328=) single nucleotide variant Fanconi anemia [RCV002103364] Chr16:89795928 [GRCh38]
Chr16:89862336 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1776+9G>C single nucleotide variant Fanconi anemia [RCV002122555] Chr16:89778934 [GRCh38]
Chr16:89845342 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3658C>G (p.Pro1220Ala) single nucleotide variant Fanconi anemia [RCV003110875] Chr16:89742907 [GRCh38]
Chr16:89809315 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1998C>T (p.Asp666=) single nucleotide variant Fanconi anemia [RCV003110670] Chr16:89773287 [GRCh38]
Chr16:89839695 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89167090)_(89883023_?)dup duplication KBG syndrome [RCV003116641] Chr16:89167090..89883023 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3783del (p.Phe1262fs) deletion Fanconi anemia [RCV003118014] Chr16:89740849 [GRCh38]
Chr16:89807257 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4173C>T (p.Asn1391=) single nucleotide variant Fanconi anemia [RCV003118106] Chr16:89738969 [GRCh38]
Chr16:89805377 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1326C>T (p.Pro442=) single nucleotide variant Fanconi anemia [RCV003116011] Chr16:89791436 [GRCh38]
Chr16:89857844 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1737G>A single nucleotide variant Fanconi anemia [RCV003114879] Chr16:89739983 [GRCh38]
Chr16:89806391 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1153C>G (p.His385Asp) single nucleotide variant Fanconi anemia [RCV003117079] Chr16:89791999 [GRCh38]
Chr16:89858407 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2981+15C>G single nucleotide variant Fanconi anemia [RCV003118339] Chr16:89758562 [GRCh38]
Chr16:89824970 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.808C>T (p.Leu270=) single nucleotide variant Fanconi anemia [RCV003118389] Chr16:89799623 [GRCh38]
Chr16:89866031 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3348+7G>C single nucleotide variant Fanconi anemia [RCV003117257] Chr16:89748652 [GRCh38]
Chr16:89815060 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2885A>T (p.His962Leu) single nucleotide variant Fanconi anemia [RCV003121836] Chr16:89758673 [GRCh38]
Chr16:89825081 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2151+8T>G single nucleotide variant Fanconi anemia [RCV003118508] Chr16:89771670 [GRCh38]
Chr16:89838078 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89831215)_(89831494_?)del deletion Fanconi anemia [RCV003119353] Chr16:89831215..89831494 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89809198)_(89809356_?)del deletion Fanconi anemia [RCV003119354] Chr16:89809198..89809356 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89846267)_(89883024_?)del deletion Fanconi anemia [RCV003119355] Chr16:89846267..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89836805)_(89883033_?)del deletion Fanconi anemia [RCV003119357] Chr16:89836805..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89815049)_(89883033_?)del deletion Fanconi anemia [RCV003119358] Chr16:89815049..89883033 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89833539)_(89858965_?)del deletion Fanconi anemia [RCV003119359] Chr16:89833539..89858965 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89839659)_(89851392_?)del deletion Fanconi anemia [RCV003119360] Chr16:89839659..89851392 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89811347)_(89849530_?)del deletion Fanconi anemia [RCV003119361] Chr16:89811347..89849530 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89833539)_(89842233_?)del deletion Fanconi anemia [RCV003119363] Chr16:89833539..89842233 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89815047)_(89816330_?)del deletion Fanconi anemia [RCV003119365] Chr16:89815047..89816330 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89849257)_(89874785_?)del deletion Fanconi anemia [RCV003119366] Chr16:89849257..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89838076)_(89874785_?)del deletion Fanconi anemia [RCV003119367] Chr16:89838076..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89828347)_(89874785_?)del deletion Fanconi anemia [RCV003119368] Chr16:89828347..89874785 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89862304)_(89869759_?)del deletion Fanconi anemia [RCV003119369] Chr16:89862304..89869759 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89862304)_(89866056_?)del deletion Fanconi anemia [RCV003119370] Chr16:89862304..89866056 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89712474)_(89866066_?)del deletion Fanconi anemia [RCV003119371] Chr16:89712474..89866066 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89818536)_(89818822_?)dup duplication Fanconi anemia [RCV003119372] Chr16:89818536..89818822 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89842140)_(89851382_?)dup duplication Fanconi anemia [RCV003119373] Chr16:89842140..89851382 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89556653)_(89851392_?)dup duplication Fanconi anemia [RCV003119374] Chr16:89556653..89851392 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89828347)_(89846375_?)dup duplication Fanconi anemia [RCV003119375] Chr16:89828347..89846375 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89818526)_(89833665_?)dup duplication Fanconi anemia [RCV003119376] Chr16:89818526..89833665 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89869657)_(89881031_?)dup duplication Fanconi anemia [RCV003119377] Chr16:89869657..89881031 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89805270)_(89807294_?)dup duplication Fanconi anemia [RCV003119378] Chr16:89805270..89807294 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89805270)_(89806527_?)dup duplication Fanconi anemia [RCV003119379] Chr16:89805270..89806527 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89869657)_(89877489_?)dup duplication Fanconi anemia [RCV003119380] Chr16:89869657..89877489 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89825110)_(89923062_?)del deletion Fanconi anemia [RCV003119381] Chr16:89825110..89923062 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89824965)_(89825133_?)del deletion Fanconi anemia [RCV003119382] Chr16:89824965..89825133 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89864654)_(89883024_?)del deletion Fanconi anemia [RCV003119383] Chr16:89864654..89883024 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89805009)_(89825123_?)del deletion Fanconi anemia [RCV003119384] Chr16:89805009..89825123 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89611036)_(90106937_?)dup duplication Fanconi anemia [RCV003119385] Chr16:89611036..90106937 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2664del (p.Ala889fs) deletion Fanconi anemia [RCV003123367] Chr16:89765004 [GRCh38]
Chr16:89831412 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89824965)_(89883023_?)dup duplication Fanconi anemia [RCV003119386] Chr16:89824965..89883023 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89805009)_(89866066_?)dup duplication Fanconi anemia [RCV003119387] Chr16:89805009..89866066 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3073G>T (p.Val1025Leu) single nucleotide variant Fanconi anemia [RCV003122047] Chr16:89749896 [GRCh38]
Chr16:89816304 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3679G>A (p.Ala1227Thr) single nucleotide variant Fanconi anemia [RCV003121465] Chr16:89742886 [GRCh38]
Chr16:89809294 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1216C>A (p.Leu406Met) single nucleotide variant Fanconi anemia [RCV003121603] Chr16:89791936 [GRCh38]
Chr16:89858344 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1041C>T (p.Ser347=) single nucleotide variant Fanconi anemia [RCV003121615] Chr16:89792513 [GRCh38]
Chr16:89858921 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.987T>A (p.Thr329=) single nucleotide variant Fanconi anemia [RCV003120096] Chr16:89795925 [GRCh38]
Chr16:89862333 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.2:c.1471-490_3627-655del deletion Fanconi anemia complementation group A [RCV002254858]   pathogenic
NM_000135.4(FANCA):c.3408+6A>T single nucleotide variant Fanconi anemia [RCV002255861] Chr16:89746825 [GRCh38]
Chr16:89813233 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3156C>T (p.Phe1052=) single nucleotide variant Fanconi anemia [RCV002257102] Chr16:89749813 [GRCh38]
Chr16:89816221 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2150dup (p.Met717fs) duplication Fanconi anemia complementation group A [RCV003152929] Chr16:89771678..89771679 [GRCh38]
Chr16:89838086..89838087 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1550G>A (p.Arg517Gln) single nucleotide variant Fanconi anemia [RCV002257094] Chr16:89783023 [GRCh38]
Chr16:89849431 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1799G>A (p.Arg600His) single nucleotide variant Fanconi anemia [RCV002257095]|Fanconi anemia complementation group A [RCV002488640] Chr16:89778828 [GRCh38]
Chr16:89845236 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2248G>C (p.Val750Leu) single nucleotide variant Fanconi anemia [RCV002257098] Chr16:89770234 [GRCh38]
Chr16:89836642 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2502G>T (p.Leu834=) single nucleotide variant Fanconi anemia [RCV002257099] Chr16:89769839 [GRCh38]
Chr16:89836247 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*739A>G single nucleotide variant Fanconi anemia [RCV002257109] Chr16:89738985 [GRCh38]
Chr16:89805393 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys) single nucleotide variant Fanconi anemia [RCV002257111] Chr16:89816611 [GRCh38]
Chr16:89883019 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2853_2856del deletion See cases [RCV002252631] Chr16:89758701..89758704 [GRCh38]
Chr16:89825109..89825112 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu) indel Fanconi anemia [RCV003094180]|Fanconi anemia complementation group A [RCV002254864] Chr16:89816590..89816591 [GRCh38]
Chr16:89882998..89882999 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3091del (p.Gln1031fs) deletion Fanconi anemia [RCV002255860] Chr16:89749878 [GRCh38]
Chr16:89816286 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys) single nucleotide variant Fanconi anemia [RCV002257101]|not provided [RCV003478952] Chr16:89752148 [GRCh38]
Chr16:89818556 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3404T>G (p.Phe1135Cys) single nucleotide variant Fanconi anemia [RCV002257104] Chr16:89746835 [GRCh38]
Chr16:89813243 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3513+4G>A single nucleotide variant Fanconi anemia [RCV002257105] Chr16:89746580 [GRCh38]
Chr16:89812988 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3610C>G (p.Arg1204Gly) single nucleotide variant Fanconi anemia [RCV002257106] Chr16:89744975 [GRCh38]
Chr16:89811383 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr) single nucleotide variant Fanconi anemia [RCV002257110]|Inborn genetic diseases [RCV003164364] Chr16:89738920 [GRCh38]
Chr16:89805328 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2316+6G>T single nucleotide variant Fanconi anemia [RCV002259202] Chr16:89770160 [GRCh38]
Chr16:89836568 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1 copy number loss Fanconi anemia complementation group A [RCV003236702] Chr16:89764796..89811592 [GRCh38]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1007-119C>A single nucleotide variant not provided [RCV002265143] Chr16:89792666 [GRCh38]
Chr16:89859074 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(89818631_89824984)_(89883066_?)dup duplication not specified [RCV002271828] Chr16:89824984..89883066 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3629T>C (p.Phe1210Ser) single nucleotide variant not provided [RCV002273587] Chr16:89742936 [GRCh38]
Chr16:89809344 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3513+159T>C single nucleotide variant not provided [RCV002265142] Chr16:89746425 [GRCh38]
Chr16:89812833 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter) single nucleotide variant Fanconi anemia [RCV002282807]|Fanconi anemia complementation group A [RCV003464430] Chr16:89791410 [GRCh38]
Chr16:89857818 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2852+1del deletion Fanconi anemia complementation group A [RCV002283852] Chr16:89761948 [GRCh38]
Chr16:89828356 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys) single nucleotide variant Fanconi anemia complementation group A [RCV002292246] Chr16:89745053 [GRCh38]
Chr16:89811461 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser) single nucleotide variant Fanconi anemia complementation group A [RCV002292250] Chr16:89749814 [GRCh38]
Chr16:89816222 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile) single nucleotide variant Fanconi anemia complementation group A [RCV002292251] Chr16:89771757 [GRCh38]
Chr16:89838165 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser) single nucleotide variant Fanconi anemia complementation group A [RCV002292262] Chr16:89738968 [GRCh38]
Chr16:89805376 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89845820-89913583) copy number gain 46,XY sex reversal 7 [RCV002280745] Chr16:89845820..89913583 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp) single nucleotide variant Fanconi anemia complementation group A [RCV002282797]|Inborn genetic diseases [RCV003289496] Chr16:89771710 [GRCh38]
Chr16:89838118 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_000135.4(FANCA):c.827-31A>G single nucleotide variant not provided [RCV002265094] Chr16:89799263 [GRCh38]
Chr16:89865671 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter) single nucleotide variant Fanconi anemia [RCV003097710]|Fanconi anemia complementation group A [RCV003464436]|not provided [RCV002287060] Chr16:89810988 [GRCh38]
Chr16:89877396 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4301C>T (p.Ala1434Val) single nucleotide variant not provided [RCV002261557] Chr16:89738668 [GRCh38]
Chr16:89805076 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe) single nucleotide variant Fanconi anemia [RCV003523126]|Fanconi anemia complementation group A [RCV002292227] Chr16:89740837 [GRCh38]
Chr16:89807245 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.971T>C (p.Leu324Pro) single nucleotide variant Fanconi anemia complementation group A [RCV002286879] Chr16:89795941 [GRCh38]
Chr16:89862349 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1048_1049delinsGT (p.Arg350Val) indel not provided [RCV002261559] Chr16:89792505..89792506 [GRCh38]
Chr16:89858913..89858914 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1715+8G>A single nucleotide variant Fanconi anemia [RCV003096012]|not specified [RCV002266234] Chr16:89779861 [GRCh38]
Chr16:89846269 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1556C>G (p.Ala519Gly) single nucleotide variant Fanconi anemia [RCV002297802] Chr16:89783017 [GRCh38]
Chr16:89849425 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1754A>T (p.Lys585Met) single nucleotide variant Inborn genetic diseases [RCV003283800] Chr16:89738155 [GRCh38]
Chr16:89804563 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1752C>G (p.Asp584Glu) single nucleotide variant Inborn genetic diseases [RCV003288126] Chr16:89738153 [GRCh38]
Chr16:89804561 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2853-268C>T single nucleotide variant not provided [RCV002469851] Chr16:89758973 [GRCh38]
Chr16:89825381 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4110dup (p.Gly1371fs) duplication Fanconi anemia [RCV003012207] Chr16:89739189..89739190 [GRCh38]
Chr16:89805597..89805598 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.190-287G>A single nucleotide variant not provided [RCV002469809] Chr16:89814900 [GRCh38]
Chr16:89881308 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.798G>C (p.Thr266=) single nucleotide variant Fanconi anemia [RCV002750325] Chr16:89799633 [GRCh38]
Chr16:89866041 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(89877480_89880927)_(89883066_?)dup duplication not specified [RCV002469945] Chr16:89880927..89883066 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2146C>T (p.His716Tyr) single nucleotide variant Fanconi anemia [RCV002727197] Chr16:89771683 [GRCh38]
Chr16:89838091 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1891A>G (p.Lys631Glu) single nucleotide variant Fanconi anemia [RCV002303860] Chr16:89775751 [GRCh38]
Chr16:89842159 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89818649-89883044) copy number loss Fanconi anemia complementation group A [RCV003236735] Chr16:89818649..89883044 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter) single nucleotide variant Fanconi anemia complementation group A [RCV002309621] Chr16:89779930 [GRCh38]
Chr16:89846338 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2830G>A (p.Asp944Asn) single nucleotide variant Fanconi anemia [RCV002301921] Chr16:89761971 [GRCh38]
Chr16:89828379 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.877A>G (p.Lys293Glu) single nucleotide variant Fanconi anemia [RCV002295976] Chr16:89799182 [GRCh38]
Chr16:89865590 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.714dup (p.Val239fs) duplication Fanconi anemia complementation group A [RCV002310075] Chr16:89803336..89803337 [GRCh38]
Chr16:89869744..89869745 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter) single nucleotide variant Fanconi anemia complementation group A [RCV002308219] Chr16:89775754 [GRCh38]
Chr16:89842162 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2843A>C (p.Asp948Ala) single nucleotide variant Fanconi anemia [RCV002299690] Chr16:89761958 [GRCh38]
Chr16:89828366 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter) single nucleotide variant FANCA-related condition [RCV003395454]|Fanconi anemia complementation group A [RCV002306708] Chr16:89752210 [GRCh38]
Chr16:89818618 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3364C>T (p.His1122Tyr) single nucleotide variant Fanconi anemia [RCV002296341]|Inborn genetic diseases [RCV003097922] Chr16:89746875 [GRCh38]
Chr16:89813283 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.79+5G>A single nucleotide variant Inborn genetic diseases [RCV002412369] Chr16:89816532 [GRCh38]
Chr16:89882940 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.919C>A (p.Leu307Ile) single nucleotide variant Fanconi anemia [RCV002299162] Chr16:89795993 [GRCh38]
Chr16:89862401 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1769C>A (p.Pro590His) single nucleotide variant Inborn genetic diseases [RCV002401776] Chr16:89778950 [GRCh38]
Chr16:89845358 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter) single nucleotide variant Fanconi anemia complementation group A [RCV002309318] Chr16:89746619 [GRCh38]
Chr16:89813027 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter) single nucleotide variant Fanconi anemia complementation group A [RCV002309428] Chr16:89773313 [GRCh38]
Chr16:89839721 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.641T>G (p.Leu214Arg) single nucleotide variant Fanconi anemia [RCV002303227] Chr16:89805348 [GRCh38]
Chr16:89871756 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1112T>C (p.Leu371Ser) single nucleotide variant Fanconi anemia [RCV002294798] Chr16:89792040 [GRCh38]
Chr16:89858448 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter) single nucleotide variant Fanconi anemia complementation group A [RCV002310117] Chr16:89791930 [GRCh38]
Chr16:89858338 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter) single nucleotide variant Fanconi anemia complementation group A [RCV002306662] Chr16:89811054 [GRCh38]
Chr16:89877462 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.894G>T (p.Trp298Cys) single nucleotide variant Fanconi anemia [RCV002302297] Chr16:89796018 [GRCh38]
Chr16:89862426 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del deletion Fanconi anemia [RCV002308631] Chr16:89849266..89849511 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1434A>G (p.Ser478=) single nucleotide variant Fanconi anemia [RCV002816267] Chr16:89784890 [GRCh38]
Chr16:89851298 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1296G>A (p.Leu432=) single nucleotide variant Fanconi anemia [RCV002858581] Chr16:89791466 [GRCh38]
Chr16:89857874 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs) duplication Fanconi anemia [RCV002838402] Chr16:89783067..89783068 [GRCh38]
Chr16:89849475..89849476 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3934+1G>C single nucleotide variant not provided [RCV002481100] Chr16:89739993 [GRCh38]
Chr16:89806401 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.394A>T (p.Ser132Cys) single nucleotide variant Fanconi anemia [RCV002904233] Chr16:89810961 [GRCh38]
Chr16:89877369 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2284C>T (p.Leu762Phe) single nucleotide variant Fanconi anemia [RCV002904237] Chr16:89770198 [GRCh38]
Chr16:89836606 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3519G>C (p.Trp1173Cys) single nucleotide variant Fanconi anemia [RCV003074595] Chr16:89745066 [GRCh38]
Chr16:89811474 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2836C>T (p.Leu946Phe) single nucleotide variant Fanconi anemia [RCV003074605] Chr16:89761965 [GRCh38]
Chr16:89828373 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro) single nucleotide variant Fanconi anemia [RCV002838448] Chr16:89739239 [GRCh38]
Chr16:89805647 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1985C>T (p.Ala662Val) single nucleotide variant Fanconi anemia [RCV002971135] Chr16:89773300 [GRCh38]
Chr16:89839708 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3349-5dup duplication Fanconi anemia [RCV002858195] Chr16:89746894..89746895 [GRCh38]
Chr16:89813302..89813303 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr) single nucleotide variant Fanconi anemia [RCV002903849] Chr16:89739165 [GRCh38]
Chr16:89805573 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2852+7G>A single nucleotide variant Fanconi anemia [RCV002615467] Chr16:89761942 [GRCh38]
Chr16:89828350 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1890G>C (p.Glu630Asp) single nucleotide variant Fanconi anemia [RCV002995381] Chr16:89775752 [GRCh38]
Chr16:89842160 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1096C>G (p.Leu366Val) single nucleotide variant Fanconi anemia [RCV002970677] Chr16:89792056 [GRCh38]
Chr16:89858464 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg) single nucleotide variant Fanconi anemia [RCV003032583] Chr16:89740817 [GRCh38]
Chr16:89807225 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.227A>G (p.Lys76Arg) single nucleotide variant Inborn genetic diseases [RCV002840943] Chr16:89814576 [GRCh38]
Chr16:89880984 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.371T>C (p.Ile124Thr) single nucleotide variant Fanconi anemia [RCV002681512] Chr16:89810984 [GRCh38]
Chr16:89877392 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1847C>T (p.Ser616Phe) single nucleotide variant Fanconi anemia [RCV003014649] Chr16:89775795 [GRCh38]
Chr16:89842203 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2629T>A (p.Ser877Thr) single nucleotide variant Fanconi anemia [RCV002730221] Chr16:89765039 [GRCh38]
Chr16:89831447 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2508T>C (p.Phe836=) single nucleotide variant Fanconi anemia [RCV002881647] Chr16:89767234 [GRCh38]
Chr16:89833642 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1860C>G (p.Thr620=) single nucleotide variant Fanconi anemia [RCV002726650] Chr16:89775782 [GRCh38]
Chr16:89842190 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2267G>A (p.Arg756His) single nucleotide variant Fanconi anemia [RCV002771014] Chr16:89770215 [GRCh38]
Chr16:89836623 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2625G>A (p.Leu875=) single nucleotide variant Fanconi anemia [RCV003074781] Chr16:89765043 [GRCh38]
Chr16:89831451 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*872G>A single nucleotide variant Fanconi anemia [RCV002751353] Chr16:89739118 [GRCh38]
Chr16:89805526 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3493T>C (p.Leu1165=) single nucleotide variant Fanconi anemia [RCV002614888] Chr16:89746604 [GRCh38]
Chr16:89813012 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1948dup (p.Leu650fs) duplication Fanconi anemia [RCV002903261] Chr16:89773336..89773337 [GRCh38]
Chr16:89839744..89839745 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter) single nucleotide variant Fanconi anemia [RCV002730606] Chr16:89764959 [GRCh38]
Chr16:89831367 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2779-18G>A single nucleotide variant Fanconi anemia [RCV002686160] Chr16:89762040 [GRCh38]
Chr16:89828448 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.642G>T (p.Leu214=) single nucleotide variant Fanconi anemia [RCV002858468] Chr16:89805347 [GRCh38]
Chr16:89871755 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-16C>G single nucleotide variant Fanconi anemia [RCV002993676] Chr16:89816002 [GRCh38]
Chr16:89882410 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.715G>C (p.Val239Leu) single nucleotide variant Fanconi anemia [RCV002993696] Chr16:89803336 [GRCh38]
Chr16:89869744 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.150C>A (p.Leu50=) single nucleotide variant Fanconi anemia [RCV002731392] Chr16:89815916 [GRCh38]
Chr16:89882324 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2981+18T>C single nucleotide variant Fanconi anemia [RCV002907985] Chr16:89758559 [GRCh38]
Chr16:89824967 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*868G>T single nucleotide variant Fanconi anemia [RCV002755878] Chr16:89739114 [GRCh38]
Chr16:89805522 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys) single nucleotide variant Fanconi anemia [RCV002967713]|Inborn genetic diseases [RCV003250671] Chr16:89749736 [GRCh38]
Chr16:89816144 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3527G>T (p.Ser1176Ile) single nucleotide variant Fanconi anemia [RCV002726499] Chr16:89745058 [GRCh38]
Chr16:89811466 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs) deletion Fanconi anemia [RCV002755902] Chr16:89771777..89771778 [GRCh38]
Chr16:89838185..89838186 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3046G>A (p.Asp1016Asn) single nucleotide variant Fanconi anemia [RCV002780038] Chr16:89752158 [GRCh38]
Chr16:89818566 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.426+4A>G single nucleotide variant Fanconi anemia [RCV003076989] Chr16:89810925 [GRCh38]
Chr16:89877333 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1777-19G>A single nucleotide variant Fanconi anemia [RCV002795088] Chr16:89778869 [GRCh38]
Chr16:89845277 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3276C>T (p.Gly1092=) single nucleotide variant Fanconi anemia [RCV002795018] Chr16:89748731 [GRCh38]
Chr16:89815139 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.605A>G (p.Asp202Gly) single nucleotide variant Fanconi anemia [RCV002780129] Chr16:89805384 [GRCh38]
Chr16:89871792 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.3:c.-43_1900dup duplication not provided [RCV002481116]   uncertain significance
NM_000135.3:c.-43_283dup duplication not provided [RCV002481117]   uncertain significance
NM_000135.4(FANCA):c.3683C>A (p.Ala1228Asp) single nucleotide variant not provided [RCV002481134] Chr16:89742882 [GRCh38]
Chr16:89809290 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.893+16T>C single nucleotide variant Fanconi anemia [RCV003099003] Chr16:89799150 [GRCh38]
Chr16:89865558 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3765+7T>C single nucleotide variant Fanconi anemia [RCV003035254] Chr16:89742793 [GRCh38]
Chr16:89809201 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1079G>A (p.Arg360His) single nucleotide variant Fanconi anemia [RCV002730084] Chr16:89792475 [GRCh38]
Chr16:89858883 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter) indel Fanconi anemia [RCV002881341] Chr16:89815984..89815985 [GRCh38]
Chr16:89882392..89882393 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3218G>A (p.Arg1073Lys) single nucleotide variant Fanconi anemia [RCV003099057] Chr16:89749751 [GRCh38]
Chr16:89816159 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2222+19C>A single nucleotide variant Fanconi anemia [RCV003095716] Chr16:89770545 [GRCh38]
Chr16:89836953 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.897del (p.Phe299fs) deletion Fanconi anemia [RCV002881922] Chr16:89796015 [GRCh38]
Chr16:89862423 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.426+9C>A single nucleotide variant Fanconi anemia [RCV002996574] Chr16:89810920 [GRCh38]
Chr16:89877328 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3818dup (p.Thr1274fs) duplication Fanconi anemia [RCV003034715] Chr16:89740813..89740814 [GRCh38]
Chr16:89807221..89807222 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2505-17A>G single nucleotide variant Fanconi anemia [RCV002995066] Chr16:89767254 [GRCh38]
Chr16:89833662 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs) microsatellite Fanconi anemia [RCV002975486]|Fanconi anemia complementation group A [RCV003465875] Chr16:89739996..89739999 [GRCh38]
Chr16:89806404..89806407 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.596+9C>T single nucleotide variant Fanconi anemia [RCV003077109] Chr16:89808285 [GRCh38]
Chr16:89874693 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-18C>T single nucleotide variant Fanconi anemia [RCV003075858] Chr16:89805410 [GRCh38]
Chr16:89871818 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg) single nucleotide variant Fanconi anemia [RCV002948123]|not provided [RCV003234214] Chr16:89808316 [GRCh38]
Chr16:89874724 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2563dup (p.Thr855fs) duplication Fanconi anemia [RCV002996815] Chr16:89767178..89767179 [GRCh38]
Chr16:89833586..89833587 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2152-6_2152-5del microsatellite Fanconi anemia [RCV002948128] Chr16:89770639..89770640 [GRCh38]
Chr16:89837047..89837048 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.710-1G>T single nucleotide variant Fanconi anemia [RCV002865974] Chr16:89803342 [GRCh38]
Chr16:89869750 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser) single nucleotide variant Fanconi anemia [RCV002756563] Chr16:89738686 [GRCh38]
Chr16:89805094 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1399A>G (p.Lys467Glu) single nucleotide variant Fanconi anemia [RCV002615187] Chr16:89784925 [GRCh38]
Chr16:89851333 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2858A>C (p.Asp953Ala) single nucleotide variant Fanconi anemia [RCV003074466] Chr16:89758700 [GRCh38]
Chr16:89825108 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.189+10A>G single nucleotide variant Fanconi anemia [RCV002904765] Chr16:89815867 [GRCh38]
Chr16:89882275 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2946C>A (p.Thr982=) single nucleotide variant Fanconi anemia [RCV002755144] Chr16:89758612 [GRCh38]
Chr16:89825020 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2820A>C (p.Gln940His) single nucleotide variant Fanconi anemia [RCV002972524] Chr16:89761981 [GRCh38]
Chr16:89828389 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.597-16C>G single nucleotide variant Fanconi anemia [RCV002903726] Chr16:89805408 [GRCh38]
Chr16:89871816 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3876_3877delinsAA (p.Glu1293Lys) indel Fanconi anemia [RCV002816187] Chr16:89740051..89740052 [GRCh38]
Chr16:89806459..89806460 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.146G>A (p.Arg49His) single nucleotide variant Fanconi anemia [RCV002904191] Chr16:89815920 [GRCh38]
Chr16:89882328 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.930A>G (p.Val310=) single nucleotide variant Fanconi anemia [RCV002970996] Chr16:89795982 [GRCh38]
Chr16:89862390 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3648C>T (p.Ala1216=) single nucleotide variant Fanconi anemia [RCV002994635] Chr16:89742917 [GRCh38]
Chr16:89809325 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2349G>C (p.Gly783=) single nucleotide variant Fanconi anemia [RCV002614658] Chr16:89769992 [GRCh38]
Chr16:89836400 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-7T>C single nucleotide variant Fanconi anemia [RCV002858709] Chr16:89808374 [GRCh38]
Chr16:89874782 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2791G>C (p.Asp931His) single nucleotide variant Fanconi anemia [RCV002685413] Chr16:89762010 [GRCh38]
Chr16:89828418 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1062G>C (p.Leu354=) single nucleotide variant Fanconi anemia [RCV002816436] Chr16:89792492 [GRCh38]
Chr16:89858900 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3421G>A (p.Ala1141Thr) single nucleotide variant Fanconi anemia [RCV003075261]|Inborn genetic diseases [RCV003075260] Chr16:89746676 [GRCh38]
Chr16:89813084 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1440C>A (p.Leu480=) single nucleotide variant Fanconi anemia [RCV002838046] Chr16:89784884 [GRCh38]
Chr16:89851292 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+17G>C single nucleotide variant Fanconi anemia [RCV003073556] Chr16:89791910 [GRCh38]
Chr16:89858318 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1155C>T (p.His385=) single nucleotide variant Fanconi anemia [RCV002903102] Chr16:89791997 [GRCh38]
Chr16:89858405 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3100C>G (p.Leu1034Val) single nucleotide variant Fanconi anemia [RCV002616744] Chr16:89749869 [GRCh38]
Chr16:89816277 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.596+1G>A single nucleotide variant Fanconi anemia [RCV002615091] Chr16:89808293 [GRCh38]
Chr16:89874701 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1483C>T (p.His495Tyr) single nucleotide variant Fanconi anemia [RCV002995808] Chr16:89783090 [GRCh38]
Chr16:89849498 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.792+1G>C single nucleotide variant Fanconi anemia [RCV003033612]|Fanconi anemia complementation group A [RCV003459701] Chr16:89803258 [GRCh38]
Chr16:89869666 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3286C>G (p.Gln1096Glu) single nucleotide variant Fanconi anemia [RCV003075618] Chr16:89748721 [GRCh38]
Chr16:89815129 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2822C>A (p.Pro941His) single nucleotide variant Fanconi anemia [RCV002615129] Chr16:89761979 [GRCh38]
Chr16:89828387 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.960C>T (p.Phe320=) single nucleotide variant Fanconi anemia [RCV003074419] Chr16:89795952 [GRCh38]
Chr16:89862360 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4187T>C (p.Ile1396Thr) single nucleotide variant Fanconi anemia [RCV002838954] Chr16:89738955 [GRCh38]
Chr16:89805363 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1503C>G (p.Gly501=) single nucleotide variant Fanconi anemia [RCV002775691] Chr16:89783070 [GRCh38]
Chr16:89849478 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2912G>C (p.Gly971Ala) single nucleotide variant Fanconi anemia [RCV002776570] Chr16:89758646 [GRCh38]
Chr16:89825054 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1618A>G (p.Ile540Val) single nucleotide variant Fanconi anemia [RCV002616449] Chr16:89782867 [GRCh38]
Chr16:89849275 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.196G>T (p.Gly66Cys) single nucleotide variant Fanconi anemia [RCV002994899]|Inborn genetic diseases [RCV002994898] Chr16:89814607 [GRCh38]
Chr16:89881015 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3349-10T>C single nucleotide variant Fanconi anemia [RCV002842859] Chr16:89746900 [GRCh38]
Chr16:89813308 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2976C>T (p.His992=) single nucleotide variant Fanconi anemia [RCV002994961] Chr16:89758582 [GRCh38]
Chr16:89824990 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2062C>T (p.Leu688=) single nucleotide variant Fanconi anemia [RCV003074563]|not provided [RCV003477042] Chr16:89771767 [GRCh38]
Chr16:89838175 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1511G>T (p.Arg504Leu) single nucleotide variant Fanconi anemia [RCV003075299] Chr16:89783062 [GRCh38]
Chr16:89849470 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3349-1G>C single nucleotide variant Fanconi anemia [RCV003034449] Chr16:89746891 [GRCh38]
Chr16:89813299 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2424T>C (p.Pro808=) single nucleotide variant Fanconi anemia [RCV003073883]|not provided [RCV003477040] Chr16:89769917 [GRCh38]
Chr16:89836325 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1226-6A>G single nucleotide variant Fanconi anemia [RCV002881003] Chr16:89791542 [GRCh38]
Chr16:89857950 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4168-1G>A single nucleotide variant Fanconi anemia [RCV003017434] Chr16:89738975 [GRCh38]
Chr16:89805383 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2712G>C (p.Gln904His) single nucleotide variant Fanconi anemia [RCV002839043] Chr16:89764956 [GRCh38]
Chr16:89831364 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2882A>C (p.Glu961Ala) single nucleotide variant Fanconi anemia [RCV002908005] Chr16:89758676 [GRCh38]
Chr16:89825084 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.-10C>T single nucleotide variant not provided [RCV002481135] Chr16:89816625 [GRCh38]
Chr16:89883033 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4062G>T (p.Leu1354=) single nucleotide variant Fanconi anemia [RCV003011956] Chr16:89739238 [GRCh38]
Chr16:89805646 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+16A>G single nucleotide variant Fanconi anemia [RCV002908048] Chr16:89769821 [GRCh38]
Chr16:89836229 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+19C>T single nucleotide variant Fanconi anemia [RCV002615476] Chr16:89816518 [GRCh38]
Chr16:89882926 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2736A>C (p.Thr912=) single nucleotide variant Fanconi anemia [RCV002842518] Chr16:89764932 [GRCh38]
Chr16:89831340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3021C>G (p.Val1007=) single nucleotide variant Fanconi anemia [RCV003076035] Chr16:89752183 [GRCh38]
Chr16:89818591 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*523_*538del deletion Fanconi anemia [RCV003076290] Chr16:89738768..89738783 [GRCh38]
Chr16:89805176..89805191 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.415G>A (p.Val139Met) single nucleotide variant Fanconi anemia [RCV003076434] Chr16:89810940 [GRCh38]
Chr16:89877348 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1861C>T single nucleotide variant Fanconi anemia [RCV002756182] Chr16:89740107 [GRCh38]
Chr16:89806515 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.257A>G (p.Tyr86Cys) single nucleotide variant Fanconi anemia [RCV002996258] Chr16:89814546 [GRCh38]
Chr16:89880954 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn) single nucleotide variant Fanconi anemia [RCV002886037] Chr16:89746847 [GRCh38]
Chr16:89813255 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1152T>G (p.Val384=) single nucleotide variant Fanconi anemia [RCV002740095] Chr16:89792000 [GRCh38]
Chr16:89858408 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe) single nucleotide variant Fanconi anemia [RCV003081708]|Fanconi anemia complementation group A [RCV003143469] Chr16:89782918 [GRCh38]
Chr16:89849326 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3425G>A (p.Cys1142Tyr) single nucleotide variant Fanconi anemia [RCV002953080] Chr16:89746672 [GRCh38]
Chr16:89813080 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1456C>T (p.Pro486Ser) single nucleotide variant Fanconi anemia [RCV002953081] Chr16:89784868 [GRCh38]
Chr16:89851276 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2143G>A (p.Glu715Lys) single nucleotide variant Fanconi anemia [RCV003081344] Chr16:89771686 [GRCh38]
Chr16:89838094 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2613C>G (p.Leu871=) single nucleotide variant Fanconi anemia [RCV003003021] Chr16:89765055 [GRCh38]
Chr16:89831463 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.245G>A (p.Ser82Asn) single nucleotide variant Fanconi anemia [RCV002640659]|Inborn genetic diseases [RCV002625132] Chr16:89814558 [GRCh38]
Chr16:89880966 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1082G>C (p.Arg361Thr) single nucleotide variant Fanconi anemia [RCV002913265] Chr16:89792472 [GRCh38]
Chr16:89858880 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.511T>C (p.Trp171Arg) single nucleotide variant Fanconi anemia [RCV002785417] Chr16:89810718 [GRCh38]
Chr16:89877126 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3627-9C>G single nucleotide variant Fanconi anemia [RCV002662910] Chr16:89742947 [GRCh38]
Chr16:89809355 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg) single nucleotide variant Fanconi anemia [RCV002914223]|Inborn genetic diseases [RCV002914224] Chr16:89738949 [GRCh38]
Chr16:89805357 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.943C>A (p.Pro315Thr) single nucleotide variant Fanconi anemia [RCV002800335] Chr16:89795969 [GRCh38]
Chr16:89862377 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile) single nucleotide variant Fanconi anemia [RCV002999379] Chr16:89739174 [GRCh38]
Chr16:89805582 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2426_2427inv (p.Gly809Asp) inversion Fanconi anemia [RCV002952697] Chr16:89769914..89769915 [GRCh38]
Chr16:89836322..89836323 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1356C>T (p.Phe452=) single nucleotide variant Fanconi anemia [RCV003003100] Chr16:89791406 [GRCh38]
Chr16:89857814 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4020C>T (p.Ser1340=) single nucleotide variant Fanconi anemia [RCV002696326] Chr16:89739280 [GRCh38]
Chr16:89805688 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2741G>T (p.Arg914Ile) single nucleotide variant Fanconi anemia [RCV002785962] Chr16:89764927 [GRCh38]
Chr16:89831335 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2981+8G>C single nucleotide variant Fanconi anemia [RCV002636894] Chr16:89758569 [GRCh38]
Chr16:89824977 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.710-11T>C single nucleotide variant Fanconi anemia [RCV002928143] Chr16:89803352 [GRCh38]
Chr16:89869760 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2674T>A (p.Ser892Thr) single nucleotide variant Fanconi anemia [RCV002914321] Chr16:89764994 [GRCh38]
Chr16:89831402 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.777T>A (p.Pro259=) single nucleotide variant Fanconi anemia [RCV002927722] Chr16:89803274 [GRCh38]
Chr16:89869682 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1762C>T (p.Leu588Phe) single nucleotide variant Inborn genetic diseases [RCV002692395] Chr16:89778957 [GRCh38]
Chr16:89845365 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2549C>A (p.Ser850Tyr) single nucleotide variant Fanconi anemia [RCV002637674] Chr16:89767193 [GRCh38]
Chr16:89833601 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1098G>C (p.Leu366=) single nucleotide variant Fanconi anemia [RCV003081362] Chr16:89792054 [GRCh38]
Chr16:89858462 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1310G>C single nucleotide variant Fanconi anemia [RCV003017874] Chr16:89739556 [GRCh38]
Chr16:89805964 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.323C>T (p.Pro108Leu) single nucleotide variant Fanconi anemia [RCV002619072] Chr16:89811032 [GRCh38]
Chr16:89877440 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2874G>C (p.Ala958=) single nucleotide variant Fanconi anemia [RCV002889568] Chr16:89758684 [GRCh38]
Chr16:89825092 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*734G>A single nucleotide variant Fanconi anemia [RCV002914337] Chr16:89738980 [GRCh38]
Chr16:89805388 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.674G>A (p.Cys225Tyr) single nucleotide variant Fanconi anemia [RCV003100618] Chr16:89805315 [GRCh38]
Chr16:89871723 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-7T>C single nucleotide variant Fanconi anemia [RCV002866348] Chr16:89770266 [GRCh38]
Chr16:89836674 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2768A>T (p.Glu923Val) single nucleotide variant Fanconi anemia [RCV003081462] Chr16:89764900 [GRCh38]
Chr16:89831308 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3966G>A (p.Val1322=) single nucleotide variant Fanconi anemia [RCV002914265] Chr16:89739522 [GRCh38]
Chr16:89805930 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2164C>T (p.Leu722=) single nucleotide variant Fanconi anemia [RCV003053596] Chr16:89770622 [GRCh38]
Chr16:89837030 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter) single nucleotide variant Fanconi anemia [RCV002760340] Chr16:89746620 [GRCh38]
Chr16:89813028 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1826+5G>A single nucleotide variant Fanconi anemia [RCV002999661] Chr16:89778796 [GRCh38]
Chr16:89845204 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1483C>G (p.His495Asp) single nucleotide variant Fanconi anemia [RCV003036259] Chr16:89783090 [GRCh38]
Chr16:89849498 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.68C>A (p.Ala23Asp) single nucleotide variant Fanconi anemia [RCV002923167] Chr16:89816548 [GRCh38]
Chr16:89882956 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3753C>T (p.Cys1251=) single nucleotide variant Fanconi anemia [RCV003078432] Chr16:89742812 [GRCh38]
Chr16:89809220 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.893+8C>G single nucleotide variant Fanconi anemia [RCV003038089] Chr16:89799158 [GRCh38]
Chr16:89865566 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-9C>T single nucleotide variant Fanconi anemia [RCV002735996] Chr16:89792556 [GRCh38]
Chr16:89858964 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3972G>A (p.Pro1324=) single nucleotide variant Fanconi anemia [RCV003077364] Chr16:89739516 [GRCh38]
Chr16:89805924 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1268A>G (p.Gln423Arg) single nucleotide variant Fanconi anemia [RCV003077751] Chr16:89791494 [GRCh38]
Chr16:89857902 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.649C>T (p.Leu217Phe) single nucleotide variant Fanconi anemia [RCV002999712] Chr16:89805340 [GRCh38]
Chr16:89871748 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser) single nucleotide variant Fanconi anemia [RCV002659445] Chr16:89739484 [GRCh38]
Chr16:89805892 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1470+6A>G single nucleotide variant Fanconi anemia [RCV002923108] Chr16:89784848 [GRCh38]
Chr16:89851256 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.345G>A (p.Gly115=) single nucleotide variant Fanconi anemia [RCV003077385] Chr16:89811010 [GRCh38]
Chr16:89877418 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2836C>G (p.Leu946Val) single nucleotide variant Fanconi anemia [RCV002820402] Chr16:89761965 [GRCh38]
Chr16:89828373 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2981+3T>A single nucleotide variant Fanconi anemia [RCV002735543] Chr16:89758574 [GRCh38]
Chr16:89824982 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2118C>G (p.Ile706Met) single nucleotide variant Fanconi anemia [RCV002949306] Chr16:89771711 [GRCh38]
Chr16:89838119 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.291_295del (p.Leu98fs) deletion Fanconi anemia [RCV002659024] Chr16:89811060..89811064 [GRCh38]
Chr16:89877468..89877472 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1359+20G>T single nucleotide variant Fanconi anemia [RCV002867164] Chr16:89791383 [GRCh38]
Chr16:89857791 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2991T>C (p.Ser997=) single nucleotide variant Fanconi anemia [RCV002867174] Chr16:89752213 [GRCh38]
Chr16:89818621 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.414T>C (p.Thr138=) single nucleotide variant Fanconi anemia [RCV002823810] Chr16:89810941 [GRCh38]
Chr16:89877349 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1del (p.Met1fs) deletion Fanconi anemia [RCV003079207] Chr16:89816615 [GRCh38]
Chr16:89883023 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.46G>A (p.Gly16Arg) single nucleotide variant Fanconi anemia [RCV003079719] Chr16:89816570 [GRCh38]
Chr16:89882978 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs) deletion Fanconi anemia [RCV002847393] Chr16:89748699..89748705 [GRCh38]
Chr16:89815107..89815113 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val) single nucleotide variant Fanconi anemia [RCV003077372] Chr16:89739285 [GRCh38]
Chr16:89805693 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1879G>C (p.Ala627Pro) single nucleotide variant Fanconi anemia [RCV002795251] Chr16:89775763 [GRCh38]
Chr16:89842171 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1413C>A (p.Val471=) single nucleotide variant Fanconi anemia [RCV003100570] Chr16:89784911 [GRCh38]
Chr16:89851319 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser) single nucleotide variant Fanconi anemia [RCV002706198]|not provided [RCV003477015] Chr16:89784880 [GRCh38]
Chr16:89851288 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3067-8T>C single nucleotide variant Fanconi anemia [RCV003078372] Chr16:89749910 [GRCh38]
Chr16:89816318 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys) single nucleotide variant Fanconi anemia [RCV003019907] Chr16:89739275 [GRCh38]
Chr16:89805683 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs) duplication Fanconi anemia [RCV002867020] Chr16:89752156..89752157 [GRCh38]
Chr16:89818564..89818565 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.113A>C (p.Glu38Ala) single nucleotide variant Fanconi anemia [RCV002923489] Chr16:89815953 [GRCh38]
Chr16:89882361 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.145C>A (p.Arg49Ser) single nucleotide variant Fanconi anemia [RCV002923172] Chr16:89815921 [GRCh38]
Chr16:89882329 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile) single nucleotide variant Fanconi anemia [RCV002637742]|Fanconi anemia complementation group A [RCV003140133] Chr16:89771742 [GRCh38]
Chr16:89838150 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.200del (p.Pro67fs) deletion Fanconi anemia [RCV002695848] Chr16:89814603 [GRCh38]
Chr16:89881011 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.80C>T (p.Ala27Val) single nucleotide variant Fanconi anemia [RCV002760888] Chr16:89815986 [GRCh38]
Chr16:89882394 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met) single nucleotide variant Fanconi anemia [RCV002953306] Chr16:89739500 [GRCh38]
Chr16:89805908 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-17C>T single nucleotide variant Fanconi anemia [RCV002999452] Chr16:89770276 [GRCh38]
Chr16:89836684 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-11T>G single nucleotide variant Fanconi anemia [RCV002824151] Chr16:89808378 [GRCh38]
Chr16:89874786 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2905G>A (p.Ala969Thr) single nucleotide variant Inborn genetic diseases [RCV002925878] Chr16:89758653 [GRCh38]
Chr16:89825061 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1903G>A (p.Ala635Thr) single nucleotide variant Fanconi anemia [RCV003002195] Chr16:89773382 [GRCh38]
Chr16:89839790 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.597-14G>T single nucleotide variant Fanconi anemia [RCV002785553] Chr16:89805406 [GRCh38]
Chr16:89871814 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2059G>A (p.Val687Ile) single nucleotide variant Fanconi anemia [RCV003078478] Chr16:89771770 [GRCh38]
Chr16:89838178 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2730C>G (p.Leu910=) single nucleotide variant Fanconi anemia [RCV002760489] Chr16:89764938 [GRCh38]
Chr16:89831346 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.49G>T (p.Gly17Cys) single nucleotide variant Fanconi anemia [RCV002592468] Chr16:89816567 [GRCh38]
Chr16:89882975 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.98A>G (p.Glu33Gly) single nucleotide variant Fanconi anemia [RCV003080634] Chr16:89815968 [GRCh38]
Chr16:89882376 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1566+10C>G single nucleotide variant Fanconi anemia [RCV003078274] Chr16:89782997 [GRCh38]
Chr16:89849405 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-11C>T single nucleotide variant Fanconi anemia [RCV002706336] Chr16:89746901 [GRCh38]
Chr16:89813309 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+16_2014+27del deletion Fanconi anemia [RCV002795158] Chr16:89773244..89773255 [GRCh38]
Chr16:89839652..89839663 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-9G>A single nucleotide variant Fanconi anemia [RCV002885260] Chr16:89779012 [GRCh38]
Chr16:89845420 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-16C>T single nucleotide variant Fanconi anemia [RCV002909236] Chr16:89816002 [GRCh38]
Chr16:89882410 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2584C>G (p.Pro862Ala) single nucleotide variant Fanconi anemia [RCV002979890] Chr16:89767158 [GRCh38]
Chr16:89833566 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2095A>T (p.Ile699Leu) single nucleotide variant Fanconi anemia [RCV002953207] Chr16:89771734 [GRCh38]
Chr16:89838142 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1063C>A (p.Leu355Ile) single nucleotide variant Fanconi anemia [RCV003018619] Chr16:89792491 [GRCh38]
Chr16:89858899 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1360-10C>T single nucleotide variant Fanconi anemia [RCV002591554] Chr16:89784974 [GRCh38]
Chr16:89851382 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+12_1566+15del deletion Fanconi anemia [RCV003000100] Chr16:89782992..89782995 [GRCh38]
Chr16:89849400..89849403 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.871A>G (p.Thr291Ala) single nucleotide variant FANCA-related condition [RCV003984283]|Fanconi anemia [RCV002912928] Chr16:89799188 [GRCh38]
Chr16:89865596 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1380A>T (p.Arg460=) single nucleotide variant Fanconi anemia [RCV003080522] Chr16:89784944 [GRCh38]
Chr16:89851352 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3940A>C (p.Arg1314=) single nucleotide variant Fanconi anemia [RCV002866447] Chr16:89739548 [GRCh38]
Chr16:89805956 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+6T>C single nucleotide variant Fanconi anemia [RCV003018123] Chr16:89775736 [GRCh38]
Chr16:89842144 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4294G>A (p.Val1432Met) single nucleotide variant Fanconi anemia [RCV002571147] Chr16:89738675 [GRCh38]
Chr16:89805083 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4341C>T (p.Asp1447=) single nucleotide variant Fanconi anemia [RCV002824699] Chr16:89738628 [GRCh38]
Chr16:89805036 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2391G>T (p.Ala797=) single nucleotide variant Fanconi anemia [RCV002735325] Chr16:89769950 [GRCh38]
Chr16:89836358 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser) single nucleotide variant Fanconi anemia [RCV003002367] Chr16:89738633 [GRCh38]
Chr16:89805041 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2455G>C (p.Asp819His) single nucleotide variant Fanconi anemia [RCV003018867] Chr16:89769886 [GRCh38]
Chr16:89836294 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1084-8T>G single nucleotide variant Fanconi anemia [RCV002846976] Chr16:89792076 [GRCh38]
Chr16:89858484 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.542dup (p.Val182fs) duplication Fanconi anemia [RCV003018242] Chr16:89808347..89808348 [GRCh38]
Chr16:89874755..89874756 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1471-7T>A single nucleotide variant Fanconi anemia [RCV002913581] Chr16:89783109 [GRCh38]
Chr16:89849517 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1428C>G (p.Phe476Leu) single nucleotide variant Fanconi anemia [RCV002998783] Chr16:89784896 [GRCh38]
Chr16:89851304 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2317-4G>C single nucleotide variant Fanconi anemia [RCV002796331] Chr16:89770028 [GRCh38]
Chr16:89836436 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+18A>G single nucleotide variant Fanconi anemia [RCV003080807] Chr16:89808276 [GRCh38]
Chr16:89874684 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2316+16A>G single nucleotide variant Fanconi anemia [RCV002927445] Chr16:89770150 [GRCh38]
Chr16:89836558 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-4T>G single nucleotide variant Fanconi anemia [RCV003077798] Chr16:89799236 [GRCh38]
Chr16:89865644 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter) single nucleotide variant Fanconi anemia [RCV002736130] Chr16:89775775 [GRCh38]
Chr16:89842183 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*814del deletion Fanconi anemia [RCV002637826] Chr16:89739059 [GRCh38]
Chr16:89805467 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter) single nucleotide variant Fanconi anemia [RCV002736642] Chr16:89740022 [GRCh38]
Chr16:89806430 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln) single nucleotide variant Fanconi anemia [RCV002912838]|not provided [RCV003477026] Chr16:89746666 [GRCh38]
Chr16:89813074 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1705A>G (p.Met569Val) single nucleotide variant Fanconi anemia [RCV002796909] Chr16:89779879 [GRCh38]
Chr16:89846287 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3566G>T (p.Cys1189Phe) single nucleotide variant Fanconi anemia [RCV002927490] Chr16:89745019 [GRCh38]
Chr16:89811427 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2620A>G (p.Arg874Gly) single nucleotide variant Fanconi anemia [RCV002638112] Chr16:89765048 [GRCh38]
Chr16:89831456 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1530C>T (p.Tyr510=) single nucleotide variant Fanconi anemia [RCV002847962] Chr16:89783043 [GRCh38]
Chr16:89849451 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1633A>G (p.Ser545Gly) single nucleotide variant Fanconi anemia [RCV002953190] Chr16:89779951 [GRCh38]
Chr16:89846359 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.390G>T (p.Glu130Asp) single nucleotide variant Fanconi anemia [RCV002690607] Chr16:89810965 [GRCh38]
Chr16:89877373 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3481A>G (p.Thr1161Ala) single nucleotide variant Fanconi anemia [RCV002623479] Chr16:89746616 [GRCh38]
Chr16:89813024 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3409-14G>T single nucleotide variant Fanconi anemia [RCV002711885] Chr16:89746702 [GRCh38]
Chr16:89813110 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2232C>T (p.Pro744=) single nucleotide variant Fanconi anemia [RCV002624564] Chr16:89770250 [GRCh38]
Chr16:89836658 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+1G>C single nucleotide variant Fanconi anemia [RCV002801814] Chr16:89799165 [GRCh38]
Chr16:89865573 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.426+2T>C single nucleotide variant Fanconi anemia [RCV002745908] Chr16:89810927 [GRCh38]
Chr16:89877335 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1335C>T (p.Phe445=) single nucleotide variant Fanconi anemia [RCV003005296] Chr16:89791427 [GRCh38]
Chr16:89857835 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2853-9C>G single nucleotide variant Fanconi anemia [RCV002932708] Chr16:89758714 [GRCh38]
Chr16:89825122 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.830C>G (p.Ala277Gly) single nucleotide variant Inborn genetic diseases [RCV002919353] Chr16:89799229 [GRCh38]
Chr16:89865637 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1047G>T (p.Ala349=) single nucleotide variant Fanconi anemia [RCV002791373] Chr16:89792507 [GRCh38]
Chr16:89858915 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3240G>A (p.Arg1080=) single nucleotide variant Fanconi anemia [RCV002575851] Chr16:89748767 [GRCh38]
Chr16:89815175 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3330C>A (p.His1110Gln) single nucleotide variant Fanconi anemia [RCV003026081] Chr16:89748677 [GRCh38]
Chr16:89815085 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3068A>G (p.Glu1023Gly) single nucleotide variant Fanconi anemia [RCV002766167] Chr16:89749901 [GRCh38]
Chr16:89816309 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*2638C>T single nucleotide variant Fanconi anemia [RCV003083198] Chr16:89740884 [GRCh38]
Chr16:89807292 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter) single nucleotide variant Fanconi anemia [RCV003057189] Chr16:89778982 [GRCh38]
Chr16:89845390 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu) single nucleotide variant Fanconi anemia [RCV002595674] Chr16:89739512 [GRCh38]
Chr16:89805920 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn) single nucleotide variant Fanconi anemia [RCV003007158] Chr16:89740031 [GRCh38]
Chr16:89806439 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1844C>T (p.Pro615Leu) single nucleotide variant Fanconi anemia [RCV002805411] Chr16:89775798 [GRCh38]
Chr16:89842206 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1275C>T (p.Asp425=) single nucleotide variant Fanconi anemia [RCV002933421] Chr16:89791487 [GRCh38]
Chr16:89857895 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-11C>T single nucleotide variant Fanconi anemia [RCV003026204] Chr16:89742949 [GRCh38]
Chr16:89809357 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1149G>A (p.Glu383=) single nucleotide variant Fanconi anemia [RCV002890348] Chr16:89792003 [GRCh38]
Chr16:89858411 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-18C>A single nucleotide variant Fanconi anemia [RCV002643169] Chr16:89805410 [GRCh38]
Chr16:89871818 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1671G>A (p.Val557=) single nucleotide variant Fanconi anemia [RCV003085793] Chr16:89779913 [GRCh38]
Chr16:89846321 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter) single nucleotide variant Fanconi anemia [RCV002932892] Chr16:89752220 [GRCh38]
Chr16:89818628 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3261G>C (p.Ser1087=) single nucleotide variant Fanconi anemia [RCV003059787] Chr16:89748746 [GRCh38]
Chr16:89815154 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3819G>A (p.Leu1273=) single nucleotide variant Fanconi anemia [RCV002894657] Chr16:89740813 [GRCh38]
Chr16:89807221 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1154A>G (p.His385Arg) single nucleotide variant Fanconi anemia [RCV003025227] Chr16:89791998 [GRCh38]
Chr16:89858406 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3675C>T (p.Leu1225=) single nucleotide variant Fanconi anemia [RCV002805492] Chr16:89742890 [GRCh38]
Chr16:89809298 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4033G>C (p.Asp1345His) single nucleotide variant Fanconi anemia [RCV002958760] Chr16:89739267 [GRCh38]
Chr16:89805675 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-13G>T single nucleotide variant Fanconi anemia [RCV002745833] Chr16:89770272 [GRCh38]
Chr16:89836680 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4296G>T (p.Val1432=) single nucleotide variant Fanconi anemia [RCV002852789] Chr16:89738673 [GRCh38]
Chr16:89805081 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2320C>T (p.Pro774Ser) single nucleotide variant Fanconi anemia [RCV003084574] Chr16:89770021 [GRCh38]
Chr16:89836429 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2317-10C>T single nucleotide variant Fanconi anemia [RCV002643855] Chr16:89770034 [GRCh38]
Chr16:89836442 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1926A>C (p.Glu642Asp) single nucleotide variant Fanconi anemia [RCV002790669] Chr16:89773359 [GRCh38]
Chr16:89839767 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3348+15T>G single nucleotide variant Fanconi anemia [RCV002876495] Chr16:89748644 [GRCh38]
Chr16:89815052 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3706C>G (p.Gln1236Glu) single nucleotide variant Fanconi anemia [RCV003007508] Chr16:89742859 [GRCh38]
Chr16:89809267 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2014+20C>T single nucleotide variant Fanconi anemia [RCV002664328] Chr16:89773251 [GRCh38]
Chr16:89839659 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter) single nucleotide variant Fanconi anemia [RCV002575617] Chr16:89748712 [GRCh38]
Chr16:89815120 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.387G>T (p.Ala129=) single nucleotide variant Fanconi anemia [RCV002829783] Chr16:89810968 [GRCh38]
Chr16:89877376 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1913G>A (p.Gly638Glu) single nucleotide variant Fanconi anemia [RCV002942123]|Inborn genetic diseases [RCV002928325] Chr16:89773372 [GRCh38]
Chr16:89839780 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3067-3C>T single nucleotide variant Fanconi anemia [RCV002643935] Chr16:89749905 [GRCh38]
Chr16:89816313 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1607C>T (p.Ser536Leu) single nucleotide variant Fanconi anemia [RCV002958896] Chr16:89782878 [GRCh38]
Chr16:89849286 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2211T>C (p.Ala737=) single nucleotide variant Fanconi anemia [RCV002664010] Chr16:89770575 [GRCh38]
Chr16:89836983 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2889T>C (p.Phe963=) single nucleotide variant Fanconi anemia [RCV003081916] Chr16:89758669 [GRCh38]
Chr16:89825077 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-5C>G single nucleotide variant Fanconi anemia [RCV002572561] Chr16:89815991 [GRCh38]
Chr16:89882399 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.581A>G (p.Gln194Arg) single nucleotide variant Fanconi anemia [RCV002985455] Chr16:89808309 [GRCh38]
Chr16:89874717 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.456T>A (p.Ala152=) single nucleotide variant Fanconi anemia [RCV002575022] Chr16:89810773 [GRCh38]
Chr16:89877181 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1259del (p.Glu420fs) deletion Fanconi anemia [RCV002871728] Chr16:89791503 [GRCh38]
Chr16:89857911 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.123G>A (p.Gln41=) single nucleotide variant Fanconi anemia [RCV002663944] Chr16:89815943 [GRCh38]
Chr16:89882351 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1722C>T (p.Phe574=) single nucleotide variant Fanconi anemia [RCV002917647] Chr16:89778997 [GRCh38]
Chr16:89845405 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1050G>A (p.Arg350=) single nucleotide variant Fanconi anemia [RCV002624116] Chr16:89792504 [GRCh38]
Chr16:89858912 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1441G>A (p.Val481Met) single nucleotide variant Fanconi anemia [RCV002624775] Chr16:89784883 [GRCh38]
Chr16:89851291 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.280A>G (p.Ile94Val) single nucleotide variant Fanconi anemia [RCV002643071] Chr16:89814523 [GRCh38]
Chr16:89880931 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2012A>T (p.Asp671Val) single nucleotide variant Fanconi anemia [RCV002765661] Chr16:89773273 [GRCh38]
Chr16:89839681 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2960C>T (p.Ala987Val) single nucleotide variant Fanconi anemia [RCV002914687]|Inborn genetic diseases [RCV002923000] Chr16:89758598 [GRCh38]
Chr16:89825006 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1080C>A (p.Arg360=) single nucleotide variant Fanconi anemia [RCV002928867] Chr16:89792474 [GRCh38]
Chr16:89858882 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2442C>T (p.Val814=) single nucleotide variant Fanconi anemia [RCV002828989] Chr16:89769899 [GRCh38]
Chr16:89836307 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-12G>A single nucleotide variant Fanconi anemia [RCV002890864] Chr16:89770646 [GRCh38]
Chr16:89837054 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.72G>A (p.Glu24=) single nucleotide variant Fanconi anemia [RCV002890316] Chr16:89816544 [GRCh38]
Chr16:89882952 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2371C>G (p.Leu791Val) single nucleotide variant Fanconi anemia [RCV003024193] Chr16:89769970 [GRCh38]
Chr16:89836378 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu) single nucleotide variant Fanconi anemia [RCV002666555] Chr16:89740009 [GRCh38]
Chr16:89806417 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3466C>G (p.Leu1156Val) single nucleotide variant Fanconi anemia [RCV002766409] Chr16:89746631 [GRCh38]
Chr16:89813039 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3396C>A (p.Ala1132=) single nucleotide variant Fanconi anemia [RCV002663650] Chr16:89746843 [GRCh38]
Chr16:89813251 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-18C>G single nucleotide variant Fanconi anemia [RCV002664123] Chr16:89742956 [GRCh38]
Chr16:89809364 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1364C>A (p.Ser455Tyr) single nucleotide variant Fanconi anemia [RCV002574052] Chr16:89784960 [GRCh38]
Chr16:89851368 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*2640_*2642del deletion Fanconi anemia [RCV002595296] Chr16:89740886..89740888 [GRCh38]
Chr16:89807294..89807296 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter) single nucleotide variant Fanconi anemia [RCV002872067] Chr16:89810765 [GRCh38]
Chr16:89877173 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4062G>A (p.Leu1354=) single nucleotide variant Fanconi anemia [RCV002710079] Chr16:89739238 [GRCh38]
Chr16:89805646 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4187T>A (p.Ile1396Lys) single nucleotide variant Fanconi anemia [RCV003024691] Chr16:89738955 [GRCh38]
Chr16:89805363 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.893+11G>A single nucleotide variant Fanconi anemia [RCV002890916] Chr16:89799155 [GRCh38]
Chr16:89865563 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter) single nucleotide variant Fanconi anemia [RCV002985307] Chr16:89738648 [GRCh38]
Chr16:89805056 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3252C>T (p.Arg1084=) single nucleotide variant Fanconi anemia [RCV003056837] Chr16:89748755 [GRCh38]
Chr16:89815163 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3528C>T (p.Ser1176=) single nucleotide variant Fanconi anemia [RCV003056838] Chr16:89745057 [GRCh38]
Chr16:89811465 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.894-19C>G single nucleotide variant Fanconi anemia [RCV002982454] Chr16:89796037 [GRCh38]
Chr16:89862445 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-19G>A single nucleotide variant Fanconi anemia [RCV002828435] Chr16:89746707 [GRCh38]
Chr16:89813115 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+18A>T single nucleotide variant Fanconi anemia [RCV002890228] Chr16:89810911 [GRCh38]
Chr16:89877319 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3515T>C (p.Val1172Ala) single nucleotide variant Fanconi anemia [RCV003082138] Chr16:89745070 [GRCh38]
Chr16:89811478 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3333G>A (p.Leu1111=) single nucleotide variant Fanconi anemia [RCV002928299] Chr16:89748674 [GRCh38]
Chr16:89815082 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1492del (p.Leu498fs) deletion Fanconi anemia [RCV003635998]|Fanconi anemia complementation group A [RCV002790014] Chr16:89783081 [GRCh38]
Chr16:89849489 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2535C>G (p.Leu845=) single nucleotide variant Fanconi anemia [RCV002623426] Chr16:89767207 [GRCh38]
Chr16:89833615 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.60G>C (p.Arg20Ser) single nucleotide variant Fanconi anemia [RCV002800736] Chr16:89816556 [GRCh38]
Chr16:89882964 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3765+13del deletion Fanconi anemia [RCV002828893] Chr16:89742787 [GRCh38]
Chr16:89809195 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3889A>G (p.Lys1297Glu) single nucleotide variant Fanconi anemia [RCV002953957] Chr16:89740039 [GRCh38]
Chr16:89806447 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs) microsatellite Fanconi anemia [RCV002740878] Chr16:89749793..89749794 [GRCh38]
Chr16:89816201..89816202 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4346C>A (p.Ser1449Tyr) single nucleotide variant Inborn genetic diseases [RCV002891367] Chr16:89738623 [GRCh38]
Chr16:89805031 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2721C>T (p.Ala907=) single nucleotide variant Fanconi anemia [RCV003084770] Chr16:89764947 [GRCh38]
Chr16:89831355 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg) single nucleotide variant Fanconi anemia [RCV002644498] Chr16:89738693 [GRCh38]
Chr16:89805101 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1212_*1217del deletion Fanconi anemia [RCV002933058] Chr16:89739458..89739463 [GRCh38]
Chr16:89805866..89805871 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1494G>A (p.Leu498=) single nucleotide variant Fanconi anemia [RCV002594990] Chr16:89783079 [GRCh38]
Chr16:89849487 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3378G>A (p.Leu1126=) single nucleotide variant Fanconi anemia [RCV003057452] Chr16:89746861 [GRCh38]
Chr16:89813269 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.644G>A (p.Cys215Tyr) single nucleotide variant Fanconi anemia [RCV002894904] Chr16:89805345 [GRCh38]
Chr16:89871753 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1208C>T (p.Ala403Val) single nucleotide variant Fanconi anemia [RCV002595242] Chr16:89791944 [GRCh38]
Chr16:89858352 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu) single nucleotide variant Fanconi anemia [RCV003084229] Chr16:89740849 [GRCh38]
Chr16:89807257 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter) single nucleotide variant Fanconi anemia [RCV002575909] Chr16:89744984 [GRCh38]
Chr16:89811392 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1083+1G>A single nucleotide variant Fanconi anemia [RCV003043416] Chr16:89792470 [GRCh38]
Chr16:89858878 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.893+8C>T single nucleotide variant Fanconi anemia [RCV002574523] Chr16:89799158 [GRCh38]
Chr16:89865566 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3732G>C (p.Lys1244Asn) single nucleotide variant Fanconi anemia [RCV002623979] Chr16:89742833 [GRCh38]
Chr16:89809241 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3855C>A (p.Phe1285Leu) single nucleotide variant Fanconi anemia [RCV002700338] Chr16:89740073 [GRCh38]
Chr16:89806481 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3348+13T>C single nucleotide variant Fanconi anemia [RCV002666823] Chr16:89748646 [GRCh38]
Chr16:89815054 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-24_523-10dup duplication Fanconi anemia [RCV003043332] Chr16:89808376..89808377 [GRCh38]
Chr16:89874784..89874785 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1950G>A (p.Leu650=) single nucleotide variant Fanconi anemia [RCV003082050] Chr16:89773335 [GRCh38]
Chr16:89839743 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1968A>C (p.Ala656=) single nucleotide variant Fanconi anemia [RCV002700632] Chr16:89773317 [GRCh38]
Chr16:89839725 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+1del deletion Fanconi anemia [RCV002894095] Chr16:89775741 [GRCh38]
Chr16:89842149 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3281G>A (p.Ser1094Asn) single nucleotide variant Fanconi anemia [RCV002576223] Chr16:89748726 [GRCh38]
Chr16:89815134 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1860A>G single nucleotide variant Fanconi anemia [RCV002928420] Chr16:89740106 [GRCh38]
Chr16:89806514 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2640C>A single nucleotide variant Fanconi anemia [RCV002643050] Chr16:89740886 [GRCh38]
Chr16:89807294 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2162T>G (p.Leu721Arg) single nucleotide variant Fanconi anemia [RCV002663940] Chr16:89770624 [GRCh38]
Chr16:89837032 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3948G>A (p.Gly1316=) single nucleotide variant Fanconi anemia [RCV003041381] Chr16:89739540 [GRCh38]
Chr16:89805948 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1065C>A (p.Leu355=) single nucleotide variant Fanconi anemia [RCV003041390] Chr16:89792489 [GRCh38]
Chr16:89858897 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1868A>G (p.Gln623Arg) single nucleotide variant Fanconi anemia [RCV002852333] Chr16:89775774 [GRCh38]
Chr16:89842182 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3922T>C (p.Leu1308=) single nucleotide variant Fanconi anemia [RCV003005065] Chr16:89740006 [GRCh38]
Chr16:89806414 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-14G>A single nucleotide variant Fanconi anemia [RCV002766682] Chr16:89746702 [GRCh38]
Chr16:89813110 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4200T>A (p.Arg1400=) single nucleotide variant Fanconi anemia [RCV003042727] Chr16:89738942 [GRCh38]
Chr16:89805350 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2779-3C>T single nucleotide variant Fanconi anemia [RCV002596173] Chr16:89762025 [GRCh38]
Chr16:89828433 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.57G>A (p.Arg19=) single nucleotide variant Fanconi anemia [RCV002642965] Chr16:89816559 [GRCh38]
Chr16:89882967 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2828C>T (p.Ala943Val) single nucleotide variant Fanconi anemia [RCV002596014]|Inborn genetic diseases [RCV002610696] Chr16:89761973 [GRCh38]
Chr16:89828381 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter) single nucleotide variant Fanconi anemia [RCV002890069] Chr16:89742832 [GRCh38]
Chr16:89809240 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1084-17G>A single nucleotide variant Fanconi anemia [RCV003082460] Chr16:89792085 [GRCh38]
Chr16:89858493 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1080C>T (p.Arg360=) single nucleotide variant Fanconi anemia [RCV002595919] Chr16:89792474 [GRCh38]
Chr16:89858882 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala) single nucleotide variant Fanconi anemia [RCV002954008] Chr16:89738639 [GRCh38]
Chr16:89805047 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1476C>T (p.His492=) single nucleotide variant Fanconi anemia [RCV003084042] Chr16:89783097 [GRCh38]
Chr16:89849505 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1777-7C>A single nucleotide variant Fanconi anemia [RCV002623984] Chr16:89778857 [GRCh38]
Chr16:89845265 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2914G>T (p.Gly972Cys) single nucleotide variant Fanconi anemia [RCV002828696] Chr16:89758644 [GRCh38]
Chr16:89825052 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2010T>G (p.Arg670=) single nucleotide variant Fanconi anemia [RCV002890174] Chr16:89773275 [GRCh38]
Chr16:89839683 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-11C>G single nucleotide variant Fanconi anemia [RCV003083124] Chr16:89765077 [GRCh38]
Chr16:89831485 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3057C>A (p.Ser1019=) single nucleotide variant Fanconi anemia [RCV002890667] Chr16:89752147 [GRCh38]
Chr16:89818555 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter) single nucleotide variant Fanconi anemia [RCV002663942] Chr16:89742811 [GRCh38]
Chr16:89809219 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1470+19C>T single nucleotide variant Fanconi anemia [RCV003084536] Chr16:89784835 [GRCh38]
Chr16:89851243 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1076A>G (p.Tyr359Cys) single nucleotide variant Fanconi anemia [RCV002596009] Chr16:89792478 [GRCh38]
Chr16:89858886 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2151+12G>T single nucleotide variant Fanconi anemia [RCV002626936] Chr16:89771666 [GRCh38]
Chr16:89838074 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1876T>C (p.Ser626Pro) single nucleotide variant Fanconi anemia [RCV002574594] Chr16:89775766 [GRCh38]
Chr16:89842174 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3375C>G (p.Ala1125=) single nucleotide variant Fanconi anemia [RCV002932033] Chr16:89746864 [GRCh38]
Chr16:89813272 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2244C>G (p.Leu748=) single nucleotide variant Fanconi anemia [RCV002766696] Chr16:89770238 [GRCh38]
Chr16:89836646 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-16G>C single nucleotide variant Fanconi anemia [RCV003083284] Chr16:89792563 [GRCh38]
Chr16:89858971 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.826+4A>G single nucleotide variant Fanconi anemia [RCV002667649] Chr16:89799601 [GRCh38]
Chr16:89866009 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe) single nucleotide variant Fanconi anemia [RCV002624802] Chr16:89739201 [GRCh38]
Chr16:89805609 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val) single nucleotide variant Fanconi anemia [RCV002915053] Chr16:89740866 [GRCh38]
Chr16:89807274 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2368C>T (p.His790Tyr) single nucleotide variant Fanconi anemia [RCV003084974] Chr16:89769973 [GRCh38]
Chr16:89836381 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1225+2T>A single nucleotide variant Fanconi anemia [RCV002805380] Chr16:89791925 [GRCh38]
Chr16:89858333 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1900+15C>T single nucleotide variant Fanconi anemia [RCV002640693] Chr16:89775727 [GRCh38]
Chr16:89842135 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.826+11T>G single nucleotide variant Fanconi anemia [RCV003083880] Chr16:89799594 [GRCh38]
Chr16:89866002 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser) single nucleotide variant Fanconi anemia [RCV002982437]|not provided [RCV003477030] Chr16:89805346 [GRCh38]
Chr16:89871754 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1007-3C>A single nucleotide variant Fanconi anemia [RCV002954364]|not provided [RCV003481354] Chr16:89792550 [GRCh38]
Chr16:89858958 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1359+8A>G single nucleotide variant Fanconi anemia [RCV003022202] Chr16:89791395 [GRCh38]
Chr16:89857803 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2424T>A (p.Pro808=) single nucleotide variant Fanconi anemia [RCV003025000] Chr16:89769917 [GRCh38]
Chr16:89836325 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg) single nucleotide variant Fanconi anemia [RCV003007393] Chr16:89739236 [GRCh38]
Chr16:89805644 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1338G>T (p.Leu446=) single nucleotide variant Fanconi anemia [RCV003086195] Chr16:89791424 [GRCh38]
Chr16:89857832 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*468AG[2] microsatellite Fanconi anemia [RCV002647537] Chr16:89738713..89738714 [GRCh38]
Chr16:89805121..89805122 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3240-18A>T single nucleotide variant Fanconi anemia [RCV002900018] Chr16:89748785 [GRCh38]
Chr16:89815193 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1851G>A (p.Leu617=) single nucleotide variant Fanconi anemia [RCV002631672] Chr16:89775791 [GRCh38]
Chr16:89842199 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1712C>T (p.Ala571Val) single nucleotide variant Fanconi anemia [RCV002967307] Chr16:89779872 [GRCh38]
Chr16:89846280 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer) duplication Fanconi anemia [RCV002962890] Chr16:89738668..89738669 [GRCh38]
Chr16:89805076..89805077 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3409-3C>T single nucleotide variant Fanconi anemia [RCV002632380] Chr16:89746691 [GRCh38]
Chr16:89813099 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro) single nucleotide variant Fanconi anemia [RCV003086289] Chr16:89739236 [GRCh38]
Chr16:89805644 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1084-11T>G single nucleotide variant Fanconi anemia [RCV002578252] Chr16:89792079 [GRCh38]
Chr16:89858487 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2878C>G (p.His960Asp) single nucleotide variant Fanconi anemia [RCV002599234] Chr16:89758680 [GRCh38]
Chr16:89825088 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2981+8_2981+10del microsatellite Fanconi anemia [RCV002938405] Chr16:89758567..89758569 [GRCh38]
Chr16:89824975..89824977 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-6C>T single nucleotide variant Fanconi anemia [RCV002632690] Chr16:89770640 [GRCh38]
Chr16:89837048 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1966G>A (p.Ala656Thr) single nucleotide variant Fanconi anemia [RCV003090937] Chr16:89773319 [GRCh38]
Chr16:89839727 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2692C>G (p.Leu898Val) single nucleotide variant Fanconi anemia [RCV002922050] Chr16:89764976 [GRCh38]
Chr16:89831384 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1385A>G (p.Tyr462Cys) single nucleotide variant Inborn genetic diseases [RCV002898292] Chr16:89784939 [GRCh38]
Chr16:89851347 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.155G>A (p.Arg52Gln) single nucleotide variant Fanconi anemia [RCV003062962] Chr16:89815911 [GRCh38]
Chr16:89882319 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1360-13T>A single nucleotide variant Fanconi anemia [RCV003062983] Chr16:89784977 [GRCh38]
Chr16:89851385 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter) single nucleotide variant Fanconi anemia [RCV002647205] Chr16:89739512 [GRCh38]
Chr16:89805920 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu) single nucleotide variant Fanconi anemia [RCV003092069] Chr16:89816605 [GRCh38]
Chr16:89883013 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2444C>T (p.Pro815Leu) single nucleotide variant FANCA-related condition [RCV003409969]|Fanconi anemia [RCV002942004] Chr16:89769897 [GRCh38]
Chr16:89836305 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2275C>T (p.Pro759Ser) single nucleotide variant Fanconi anemia [RCV002581863] Chr16:89770207 [GRCh38]
Chr16:89836615 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.631T>C (p.Phe211Leu) single nucleotide variant Fanconi anemia [RCV002899349] Chr16:89805358 [GRCh38]
Chr16:89871766 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1225+20C>G single nucleotide variant Fanconi anemia [RCV002966339] Chr16:89791907 [GRCh38]
Chr16:89858315 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+11G>A single nucleotide variant Fanconi anemia [RCV002650307] Chr16:89770553 [GRCh38]
Chr16:89836961 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter) single nucleotide variant Fanconi anemia [RCV002628881] Chr16:89792026 [GRCh38]
Chr16:89858434 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3536C>T (p.Pro1179Leu) single nucleotide variant Fanconi anemia [RCV002721118] Chr16:89745049 [GRCh38]
Chr16:89811457 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2222+16G>C single nucleotide variant Fanconi anemia [RCV002581995] Chr16:89770548 [GRCh38]
Chr16:89836956 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe) single nucleotide variant Fanconi anemia [RCV003048690] Chr16:89739533 [GRCh38]
Chr16:89805941 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1693C>T (p.Pro565Ser) single nucleotide variant Inborn genetic diseases [RCV002808843] Chr16:89779891 [GRCh38]
Chr16:89846299 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.710-15T>A single nucleotide variant Fanconi anemia [RCV002937983] Chr16:89803356 [GRCh38]
Chr16:89869764 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.2217G>A (p.Pro739=) single nucleotide variant Fanconi anemia [RCV002632552] Chr16:89770569 [GRCh38]
Chr16:89836977 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.190-2A>G single nucleotide variant Fanconi anemia [RCV003064370] Chr16:89814615 [GRCh38]
Chr16:89881023 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg) single nucleotide variant Fanconi anemia [RCV003011061] Chr16:89739151 [GRCh38]
Chr16:89805559 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3299C>A (p.Pro1100His) single nucleotide variant Fanconi anemia [RCV002938247] Chr16:89748708 [GRCh38]
Chr16:89815116 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1277G>T (p.Ser426Ile) single nucleotide variant Fanconi anemia [RCV003026835] Chr16:89791485 [GRCh38]
Chr16:89857893 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter) single nucleotide variant Fanconi anemia [RCV002966933] Chr16:89745066 [GRCh38]
Chr16:89811474 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3896_3898del (p.Lys1299del) deletion Fanconi anemia [RCV002835326] Chr16:89740030..89740032 [GRCh38]
Chr16:89806438..89806440 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.827-10dup duplication Fanconi anemia [RCV002939131] Chr16:89799241..89799242 [GRCh38]
Chr16:89865649..89865650 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.603C>G (p.Pro201=) single nucleotide variant Fanconi anemia [RCV002899947] Chr16:89805386 [GRCh38]
Chr16:89871794 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.368A>G (p.Gln123Arg) single nucleotide variant Fanconi anemia [RCV002899974] Chr16:89810987 [GRCh38]
Chr16:89877395 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2190G>C (p.Leu730=) single nucleotide variant Fanconi anemia [RCV002966967] Chr16:89770596 [GRCh38]
Chr16:89837004 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-11T>G single nucleotide variant Fanconi anemia [RCV002715212] Chr16:89805403 [GRCh38]
Chr16:89871811 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.544G>A (p.Val182Met) single nucleotide variant Fanconi anemia [RCV002988667] Chr16:89808346 [GRCh38]
Chr16:89874754 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4342C>T (p.Leu1448=) single nucleotide variant Fanconi anemia [RCV003009524] Chr16:89738627 [GRCh38]
Chr16:89805035 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.617T>C (p.Val206Ala) single nucleotide variant Fanconi anemia [RCV002599060]|not provided [RCV003477049] Chr16:89805372 [GRCh38]
Chr16:89871780 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1418T>C (p.Leu473Pro) single nucleotide variant Fanconi anemia [RCV003086149] Chr16:89784906 [GRCh38]
Chr16:89851314 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2288C>T (p.Thr763Ile) single nucleotide variant Fanconi anemia [RCV002835077] Chr16:89770194 [GRCh38]
Chr16:89836602 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1691T>A (p.Ile564Asn) single nucleotide variant Inborn genetic diseases [RCV002808842] Chr16:89779893 [GRCh38]
Chr16:89846301 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1596G>A (p.Glu532=) single nucleotide variant Fanconi anemia [RCV002834032] Chr16:89782889 [GRCh38]
Chr16:89849297 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2720C>T (p.Ala907Val) single nucleotide variant Fanconi anemia [RCV003088637] Chr16:89764948 [GRCh38]
Chr16:89831356 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg) single nucleotide variant Fanconi anemia [RCV003088642] Chr16:89738614 [GRCh38]
Chr16:89805022 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1225+15G>A single nucleotide variant Fanconi anemia [RCV002599098] Chr16:89791912 [GRCh38]
Chr16:89858320 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2877C>T (p.Ile959=) single nucleotide variant Fanconi anemia [RCV002938016] Chr16:89758681 [GRCh38]
Chr16:89825089 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val) single nucleotide variant Fanconi anemia [RCV003008917] Chr16:89738641 [GRCh38]
Chr16:89805049 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.19C>A (p.Pro7Thr) single nucleotide variant Fanconi anemia [RCV003087659] Chr16:89816597 [GRCh38]
Chr16:89883005 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3254T>G (p.Leu1085Arg) single nucleotide variant Fanconi anemia [RCV003046852] Chr16:89748753 [GRCh38]
Chr16:89815161 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2658G>A (p.Glu886=) single nucleotide variant Fanconi anemia [RCV002600544] Chr16:89765010 [GRCh38]
Chr16:89831418 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1923A>G (p.Ala641=) single nucleotide variant Fanconi anemia [RCV003086462] Chr16:89773362 [GRCh38]
Chr16:89839770 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1748del (p.Phe583fs) deletion Fanconi anemia [RCV002834105] Chr16:89778971 [GRCh38]
Chr16:89845379 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.4236A>G (p.Lys1412=) single nucleotide variant Fanconi anemia [RCV003088944] Chr16:89738906 [GRCh38]
Chr16:89805314 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.709+16G>C single nucleotide variant Fanconi anemia [RCV003027199] Chr16:89805264 [GRCh38]
Chr16:89871672 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2655G>A (p.Glu885=) single nucleotide variant Fanconi anemia [RCV002715838] Chr16:89765013 [GRCh38]
Chr16:89831421 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1642C>T (p.Leu548Phe) single nucleotide variant FANCA-related condition [RCV003973464]|Fanconi anemia [RCV002672177] Chr16:89779942 [GRCh38]
Chr16:89846350 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.826+17G>A single nucleotide variant Fanconi anemia [RCV002599679] Chr16:89799588 [GRCh38]
Chr16:89865996 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3066G>C (p.Gln1022His) single nucleotide variant Fanconi anemia [RCV002922614] Chr16:89752138 [GRCh38]
Chr16:89818546 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4098G>A (p.Gln1366=) single nucleotide variant Fanconi anemia [RCV003044740] Chr16:89739202 [GRCh38]
Chr16:89805610 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1083+20T>C single nucleotide variant Fanconi anemia [RCV002937259] Chr16:89792451 [GRCh38]
Chr16:89858859 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+10G>A single nucleotide variant Fanconi anemia [RCV002937265] Chr16:89773261 [GRCh38]
Chr16:89839669 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2901C>G (p.Ser967=) single nucleotide variant Fanconi anemia [RCV003044743] Chr16:89758657 [GRCh38]
Chr16:89825065 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg) single nucleotide variant Fanconi anemia [RCV003088560] Chr16:89739189 [GRCh38]
Chr16:89805597 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1776+5G>A single nucleotide variant Fanconi anemia [RCV002895263] Chr16:89778938 [GRCh38]
Chr16:89845346 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.709+13C>G single nucleotide variant Fanconi anemia [RCV002806017] Chr16:89805267 [GRCh38]
Chr16:89871675 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.353C>G (p.Ala118Gly) single nucleotide variant Fanconi anemia [RCV003011058] Chr16:89811002 [GRCh38]
Chr16:89877410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*620G>A single nucleotide variant Fanconi anemia [RCV002899591] Chr16:89738866 [GRCh38]
Chr16:89805274 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2981+9C>G single nucleotide variant Fanconi anemia [RCV003026365] Chr16:89758568 [GRCh38]
Chr16:89824976 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.745A>G (p.Lys249Glu) single nucleotide variant Fanconi anemia [RCV003089484] Chr16:89803306 [GRCh38]
Chr16:89869714 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3909G>A (p.Leu1303=) single nucleotide variant Fanconi anemia [RCV002600838] Chr16:89740019 [GRCh38]
Chr16:89806427 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3408+8G>A single nucleotide variant Fanconi anemia [RCV002581190] Chr16:89746823 [GRCh38]
Chr16:89813231 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.269C>G (p.Ser90Cys) single nucleotide variant Fanconi anemia [RCV002579124] Chr16:89814534 [GRCh38]
Chr16:89880942 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3057C>T (p.Ser1019=) single nucleotide variant Fanconi anemia [RCV002631233] Chr16:89752147 [GRCh38]
Chr16:89818555 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+16A>G single nucleotide variant Fanconi anemia [RCV003089540] Chr16:89814504 [GRCh38]
Chr16:89880912 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2778C>T (p.His926=) single nucleotide variant Fanconi anemia [RCV002580580] Chr16:89764890 [GRCh38]
Chr16:89831298 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.426+3A>G single nucleotide variant Fanconi anemia [RCV003064321] Chr16:89810926 [GRCh38]
Chr16:89877334 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.397C>T (p.His133Tyr) single nucleotide variant Fanconi anemia [RCV002580829] Chr16:89810958 [GRCh38]
Chr16:89877366 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1096C>T (p.Leu366=) single nucleotide variant Fanconi anemia [RCV002770442] Chr16:89792056 [GRCh38]
Chr16:89858464 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4115del (p.Asp1372fs) deletion Fanconi anemia [RCV002810495] Chr16:89739185 [GRCh38]
Chr16:89805593 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.522+11G>A single nucleotide variant Fanconi anemia [RCV003089906] Chr16:89810696 [GRCh38]
Chr16:89877104 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3626+18G>C single nucleotide variant Fanconi anemia [RCV003091180] Chr16:89744941 [GRCh38]
Chr16:89811349 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.615T>A (p.Ala205=) single nucleotide variant Fanconi anemia [RCV002810058] Chr16:89805374 [GRCh38]
Chr16:89871782 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+15C>G single nucleotide variant Fanconi anemia [RCV003060904] Chr16:89816522 [GRCh38]
Chr16:89882930 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1715+4G>A single nucleotide variant Fanconi anemia [RCV003061479] Chr16:89779865 [GRCh38]
Chr16:89846273 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs) deletion Fanconi anemia [RCV003088177] Chr16:89738613..89738625 [GRCh38]
Chr16:89805021..89805033 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3396C>T (p.Ala1132=) single nucleotide variant Fanconi anemia [RCV002599831] Chr16:89746843 [GRCh38]
Chr16:89813251 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1256T>C (p.Phe419Ser) single nucleotide variant Fanconi anemia [RCV002806142] Chr16:89791506 [GRCh38]
Chr16:89857914 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.159C>T (p.Ser53=) single nucleotide variant Fanconi anemia [RCV002937839] Chr16:89815907 [GRCh38]
Chr16:89882315 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-10G>A single nucleotide variant Fanconi anemia [RCV002578182] Chr16:89805402 [GRCh38]
Chr16:89871810 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.216G>A (p.Leu72=) single nucleotide variant Fanconi anemia [RCV003047960] Chr16:89814587 [GRCh38]
Chr16:89880995 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe) single nucleotide variant Fanconi anemia [RCV003089339]|not provided [RCV003477045] Chr16:89783012 [GRCh38]
Chr16:89849420 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1716-14T>C single nucleotide variant Fanconi anemia [RCV002934011] Chr16:89779017 [GRCh38]
Chr16:89845425 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1170C>T (p.Leu390=) single nucleotide variant Fanconi anemia [RCV003087621] Chr16:89791982 [GRCh38]
Chr16:89858390 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile) single nucleotide variant Fanconi anemia [RCV003089404]|not provided [RCV003477047] Chr16:89773282 [GRCh38]
Chr16:89839690 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter) single nucleotide variant Fanconi anemia [RCV003047487] Chr16:89782909 [GRCh38]
Chr16:89849317 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1962A>C (p.Thr654=) single nucleotide variant Fanconi anemia [RCV003064195] Chr16:89773323 [GRCh38]
Chr16:89839731 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2936C>G (p.Ala979Gly) single nucleotide variant Fanconi anemia [RCV002810386] Chr16:89758622 [GRCh38]
Chr16:89825030 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2644C>A (p.Pro882Thr) single nucleotide variant Fanconi anemia [RCV003065213] Chr16:89765024 [GRCh38]
Chr16:89831432 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.516A>G (p.Lys172=) single nucleotide variant Fanconi anemia [RCV002833382] Chr16:89810713 [GRCh38]
Chr16:89877121 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.327G>C (p.Val109=) single nucleotide variant Fanconi anemia [RCV003089516] Chr16:89811028 [GRCh38]
Chr16:89877436 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.218C>T (p.Ser73Phe) single nucleotide variant Fanconi anemia [RCV002580144] Chr16:89814585 [GRCh38]
Chr16:89880993 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3683C>G (p.Ala1228Gly) single nucleotide variant Fanconi anemia [RCV002900484] Chr16:89742882 [GRCh38]
Chr16:89809290 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter) single nucleotide variant Fanconi anemia [RCV003048691] Chr16:89748747 [GRCh38]
Chr16:89815155 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3239+10A>G single nucleotide variant Fanconi anemia [RCV003065244] Chr16:89749720 [GRCh38]
Chr16:89816128 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1626+5T>C single nucleotide variant Fanconi anemia [RCV002646042] Chr16:89782854 [GRCh38]
Chr16:89849262 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2316+18G>A single nucleotide variant Fanconi anemia [RCV002835062] Chr16:89770148 [GRCh38]
Chr16:89836556 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.243C>T (p.Asp81=) single nucleotide variant Fanconi anemia [RCV003089546] Chr16:89814560 [GRCh38]
Chr16:89880968 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-20del deletion Fanconi anemia [RCV002877113] Chr16:89808387 [GRCh38]
Chr16:89874795 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.27C>A (p.Ser9=) single nucleotide variant Fanconi anemia [RCV002857734] Chr16:89816589 [GRCh38]
Chr16:89882997 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.313C>T (p.Leu105=) single nucleotide variant Fanconi anemia [RCV003061419] Chr16:89811042 [GRCh38]
Chr16:89877450 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr) single nucleotide variant Fanconi anemia [RCV002578795] Chr16:89740844 [GRCh38]
Chr16:89807252 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1473G>T (p.Val491=) single nucleotide variant Fanconi anemia [RCV003029122] Chr16:89783100 [GRCh38]
Chr16:89849508 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.834T>C (p.Leu278=) single nucleotide variant Fanconi anemia [RCV003091441] Chr16:89799225 [GRCh38]
Chr16:89865633 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2525C>G (p.Ser842Cys) single nucleotide variant Fanconi anemia [RCV002578436] Chr16:89767217 [GRCh38]
Chr16:89833625 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2852+18C>G single nucleotide variant Fanconi anemia [RCV002630387] Chr16:89761931 [GRCh38]
Chr16:89828339 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-5T>C single nucleotide variant Fanconi anemia [RCV002899826] Chr16:89770639 [GRCh38]
Chr16:89837047 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val) single nucleotide variant Fanconi anemia [RCV002671076] Chr16:89739222 [GRCh38]
Chr16:89805630 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1827-12C>T single nucleotide variant Fanconi anemia [RCV002967127] Chr16:89775827 [GRCh38]
Chr16:89842235 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2521A>G (p.Ile841Val) single nucleotide variant Fanconi anemia [RCV003063206] Chr16:89767221 [GRCh38]
Chr16:89833629 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4253T>C (p.Val1418Ala) single nucleotide variant Fanconi anemia [RCV002631698] Chr16:89738889 [GRCh38]
Chr16:89805297 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3627-13CT[2] microsatellite Fanconi anemia [RCV002581629] Chr16:89742946..89742947 [GRCh38]
Chr16:89809354..89809355 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3855C>T (p.Phe1285=) single nucleotide variant Fanconi anemia [RCV002577668] Chr16:89740073 [GRCh38]
Chr16:89806481 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.555del (p.His186fs) deletion Fanconi anemia [RCV002857202] Chr16:89808335 [GRCh38]
Chr16:89874743 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.710-3C>A single nucleotide variant Fanconi anemia [RCV002629283] Chr16:89803344 [GRCh38]
Chr16:89869752 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1777-19G>C single nucleotide variant Fanconi anemia [RCV002629654] Chr16:89778869 [GRCh38]
Chr16:89845277 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1269G>A (p.Gln423=) single nucleotide variant Fanconi anemia [RCV002857568] Chr16:89791493 [GRCh38]
Chr16:89857901 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1012G>C (p.Asp338His) single nucleotide variant Fanconi anemia [RCV003089424] Chr16:89792542 [GRCh38]
Chr16:89858950 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2222+4A>G single nucleotide variant Fanconi anemia [RCV002631011]|not provided [RCV003477011] Chr16:89770560 [GRCh38]
Chr16:89836968 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.599A>G (p.His200Arg) single nucleotide variant Fanconi anemia [RCV003060592] Chr16:89805390 [GRCh38]
Chr16:89871798 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr) single nucleotide variant Fanconi anemia [RCV002895821] Chr16:89738684 [GRCh38]
Chr16:89805092 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2152-1G>A single nucleotide variant Fanconi anemia [RCV003087650] Chr16:89770635 [GRCh38]
Chr16:89837043 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.284-2A>C single nucleotide variant Fanconi anemia [RCV003051001]|Fanconi anemia complementation group A [RCV003340603] Chr16:89811073 [GRCh38]
Chr16:89877481 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu) single nucleotide variant Fanconi anemia [RCV002583872] Chr16:89738634 [GRCh38]
Chr16:89805042 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3765+14T>A single nucleotide variant Fanconi anemia [RCV002942948] Chr16:89742786 [GRCh38]
Chr16:89809194 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.462T>A (p.Tyr154Ter) single nucleotide variant Inborn genetic diseases [RCV002722869] Chr16:89810767 [GRCh38]
Chr16:89877175 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3189G>T (p.Trp1063Cys) single nucleotide variant Fanconi anemia [RCV003093691] Chr16:89749780 [GRCh38]
Chr16:89816188 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4182A>G (p.Glu1394=) single nucleotide variant Fanconi anemia [RCV002725871] Chr16:89738960 [GRCh38]
Chr16:89805368 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2893C>G (p.Pro965Ala) single nucleotide variant Fanconi anemia [RCV003069152] Chr16:89758665 [GRCh38]
Chr16:89825073 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3471C>T (p.Ala1157=) single nucleotide variant Fanconi anemia [RCV002605343] Chr16:89746626 [GRCh38]
Chr16:89813034 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-13TATC[3] microsatellite Fanconi anemia [RCV003069693] Chr16:89783107..89783108 [GRCh38]
Chr16:89849515..89849516 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-15A>G single nucleotide variant Fanconi anemia [RCV002634039] Chr16:89770649 [GRCh38]
Chr16:89837057 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3496A>G (p.Ile1166Val) single nucleotide variant Fanconi anemia [RCV003066539] Chr16:89746601 [GRCh38]
Chr16:89813009 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2779-14G>C single nucleotide variant Fanconi anemia [RCV003049982] Chr16:89762036 [GRCh38]
Chr16:89828444 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3756G>C (p.Glu1252Asp) single nucleotide variant Inborn genetic diseases [RCV002656082] Chr16:89742809 [GRCh38]
Chr16:89809217 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.189+14G>T single nucleotide variant Fanconi anemia [RCV003069837] Chr16:89815863 [GRCh38]
Chr16:89882271 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1454C>A (p.Ser485Tyr) single nucleotide variant Fanconi anemia [RCV003092454] Chr16:89784870 [GRCh38]
Chr16:89851278 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1374C>T (p.Ser458=) single nucleotide variant Fanconi anemia [RCV003067650] Chr16:89784950 [GRCh38]
Chr16:89851358 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.710-16T>A single nucleotide variant Fanconi anemia [RCV002721918] Chr16:89803357 [GRCh38]
Chr16:89869765 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1867G>C single nucleotide variant Fanconi anemia [RCV002585761] Chr16:89740113 [GRCh38]
Chr16:89806521 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1776+15C>T single nucleotide variant Fanconi anemia [RCV002943946] Chr16:89778928 [GRCh38]
Chr16:89845336 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla) indel Fanconi anemia [RCV003092535] Chr16:89816591..89816592 [GRCh38]
Chr16:89882999..89883000 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2346G>T (p.Leu782=) single nucleotide variant Fanconi anemia [RCV002583610] Chr16:89769995 [GRCh38]
Chr16:89836403 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-5C>T single nucleotide variant Fanconi anemia [RCV002944000] Chr16:89745076 [GRCh38]
Chr16:89811484 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2895T>C (p.Pro965=) single nucleotide variant Fanconi anemia [RCV002633594] Chr16:89758663 [GRCh38]
Chr16:89825071 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln) single nucleotide variant Fanconi anemia [RCV002942541]|Fanconi anemia complementation group A [RCV003146690]|not provided [RCV003477029] Chr16:89810724 [GRCh38]
Chr16:89877132 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3591G>T (p.Leu1197=) single nucleotide variant Fanconi anemia [RCV002943157] Chr16:89744994 [GRCh38]
Chr16:89811402 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2562T>C (p.Asp854=) single nucleotide variant Fanconi anemia [RCV002605889] Chr16:89767180 [GRCh38]
Chr16:89833588 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4023C>T (p.Tyr1341=) single nucleotide variant Fanconi anemia [RCV003067911] Chr16:89739277 [GRCh38]
Chr16:89805685 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2082C>T (p.Asp694=) single nucleotide variant Fanconi anemia [RCV003067930] Chr16:89771747 [GRCh38]
Chr16:89838155 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2531C>G (p.Ser844Cys) single nucleotide variant Fanconi anemia [RCV003052779] Chr16:89767211 [GRCh38]
Chr16:89833619 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2778+13T>G single nucleotide variant Fanconi anemia [RCV002943210] Chr16:89764877 [GRCh38]
Chr16:89831285 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.254C>G (p.Ala85Gly) single nucleotide variant Fanconi anemia [RCV002605282] Chr16:89814549 [GRCh38]
Chr16:89880957 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2632G>A (p.Glu878Lys) single nucleotide variant Fanconi anemia [RCV002584888] Chr16:89765036 [GRCh38]
Chr16:89831444 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1947C>T (p.Pro649=) single nucleotide variant Fanconi anemia [RCV002680806] Chr16:89773338 [GRCh38]
Chr16:89839746 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu) single nucleotide variant Fanconi anemia [RCV002942202] Chr16:89739274 [GRCh38]
Chr16:89805682 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2130A>G (p.Arg710=) single nucleotide variant Fanconi anemia [RCV002725424] Chr16:89771699 [GRCh38]
Chr16:89838107 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter) single nucleotide variant Fanconi anemia [RCV002635377] Chr16:89758581 [GRCh38]
Chr16:89824989 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2015-4G>C single nucleotide variant Fanconi anemia [RCV003066798] Chr16:89771818 [GRCh38]
Chr16:89838226 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+18del deletion Fanconi anemia [RCV003067553] Chr16:89769819 [GRCh38]
Chr16:89836227 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+5A>G single nucleotide variant Fanconi anemia [RCV002657852] Chr16:89770559 [GRCh38]
Chr16:89836967 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3625G>A (p.Asp1209Asn) single nucleotide variant Fanconi anemia [RCV002603066] Chr16:89744960 [GRCh38]
Chr16:89811368 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu) single nucleotide variant Fanconi anemia [RCV002584081] Chr16:89765063 [GRCh38]
Chr16:89831471 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2204G>A (p.Ser735Asn) single nucleotide variant Fanconi anemia [RCV002582967] Chr16:89770582 [GRCh38]
Chr16:89836990 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1901-3C>T single nucleotide variant Fanconi anemia [RCV002585649] Chr16:89773387 [GRCh38]
Chr16:89839795 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1168C>A (p.Leu390Ile) single nucleotide variant Fanconi anemia [RCV003071337] Chr16:89791984 [GRCh38]
Chr16:89858392 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1736A>G (p.Tyr579Cys) single nucleotide variant Fanconi anemia [RCV003071480] Chr16:89778983 [GRCh38]
Chr16:89845391 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3409-22_3409-20del microsatellite Fanconi anemia [RCV002607425] Chr16:89746708..89746710 [GRCh38]
Chr16:89813116..89813118 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1006+6C>T single nucleotide variant Fanconi anemia [RCV003071504]|not provided [RCV003477041] Chr16:89795900 [GRCh38]
Chr16:89862308 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1777-17C>G single nucleotide variant Fanconi anemia [RCV002588953] Chr16:89778867 [GRCh38]
Chr16:89845275 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn) single nucleotide variant Fanconi anemia [RCV003070266] Chr16:89738656 [GRCh38]
Chr16:89805064 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2301G>A (p.Gln767=) single nucleotide variant Fanconi anemia [RCV002586749] Chr16:89770181 [GRCh38]
Chr16:89836589 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+15_2601+16del deletion Fanconi anemia [RCV003068534] Chr16:89767125..89767126 [GRCh38]
Chr16:89833533..89833534 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His) single nucleotide variant Fanconi anemia [RCV003069264] Chr16:89738662 [GRCh38]
Chr16:89805070 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.53G>A (p.Arg18His) single nucleotide variant Fanconi anemia [RCV002589406] Chr16:89816563 [GRCh38]
Chr16:89882971 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr) single nucleotide variant Fanconi anemia [RCV002608634]|Ovarian cancer [RCV003154072] Chr16:89746679 [GRCh38]
Chr16:89813087 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu) single nucleotide variant Fanconi anemia [RCV003067865] Chr16:89740012 [GRCh38]
Chr16:89806420 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3293A>G (p.Glu1098Gly) single nucleotide variant Fanconi anemia [RCV002605263] Chr16:89748714 [GRCh38]
Chr16:89815122 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-18C>A single nucleotide variant Fanconi anemia [RCV002653781] Chr16:89742956 [GRCh38]
Chr16:89809364 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2174C>G (p.Ser725Cys) single nucleotide variant Fanconi anemia [RCV003070946] Chr16:89770612 [GRCh38]
Chr16:89837020 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1058A>G single nucleotide variant Fanconi anemia [RCV002610634] Chr16:89739304 [GRCh38]
Chr16:89805712 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr) single nucleotide variant Fanconi anemia [RCV002583868] Chr16:89738633 [GRCh38]
Chr16:89805041 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3851C>A (p.Ala1284Asp) single nucleotide variant Fanconi anemia [RCV002584656] Chr16:89740077 [GRCh38]
Chr16:89806485 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1679A>G (p.His560Arg) single nucleotide variant Fanconi anemia [RCV003073353] Chr16:89779905 [GRCh38]
Chr16:89846313 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2106T>A (p.Ile702=) single nucleotide variant Fanconi anemia [RCV002582231] Chr16:89771723 [GRCh38]
Chr16:89838131 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.826+14A>G single nucleotide variant Fanconi anemia [RCV002943369] Chr16:89799591 [GRCh38]
Chr16:89865999 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+17G>C single nucleotide variant Fanconi anemia [RCV002585519] Chr16:89746567 [GRCh38]
Chr16:89812975 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+3A>G single nucleotide variant Fanconi anemia [RCV002607151] Chr16:89791400 [GRCh38]
Chr16:89857808 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.976C>G (p.Gln326Glu) single nucleotide variant Fanconi anemia [RCV002588361] Chr16:89795936 [GRCh38]
Chr16:89862344 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2145A>G (p.Glu715=) single nucleotide variant Fanconi anemia [RCV002587405] Chr16:89771684 [GRCh38]
Chr16:89838092 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2650T>C (p.Ser884Pro) single nucleotide variant Fanconi anemia [RCV003072433] Chr16:89765018 [GRCh38]
Chr16:89831426 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3026G>T (p.Gly1009Val) single nucleotide variant Fanconi anemia [RCV002612813] Chr16:89752178 [GRCh38]
Chr16:89818586 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.775C>T (p.Pro259Ser) single nucleotide variant FANCA-related condition [RCV003404094]|Fanconi anemia [RCV002582481] Chr16:89803276 [GRCh38]
Chr16:89869684 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter) single nucleotide variant Fanconi anemia [RCV002583539]|Fanconi anemia complementation group A [RCV003465785] Chr16:89815879 [GRCh38]
Chr16:89882287 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1949T>A (p.Leu650Gln) single nucleotide variant Fanconi anemia [RCV002607286] Chr16:89773336 [GRCh38]
Chr16:89839744 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2099C>T (p.Ser700Leu) single nucleotide variant Fanconi anemia [RCV002588688] Chr16:89771730 [GRCh38]
Chr16:89838138 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-6_2223-5del microsatellite Fanconi anemia [RCV003067878] Chr16:89770264..89770265 [GRCh38]
Chr16:89836672..89836673 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3311G>C (p.Arg1104Thr) single nucleotide variant Fanconi anemia [RCV002607573] Chr16:89748696 [GRCh38]
Chr16:89815104 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1566+2C>G single nucleotide variant Fanconi anemia [RCV003051329] Chr16:89783005 [GRCh38]
Chr16:89849413 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3782del (p.Phe1261fs) deletion Fanconi anemia [RCV002611407] Chr16:89740850 [GRCh38]
Chr16:89807258 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2852+1dup duplication Fanconi anemia [RCV003066892]|Fanconi anemia complementation group A [RCV003465943] Chr16:89761947..89761948 [GRCh38]
Chr16:89828355..89828356 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.1626+6G>A single nucleotide variant Fanconi anemia [RCV003072270] Chr16:89782853 [GRCh38]
Chr16:89849261 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.962G>A (p.Ser321Asn) single nucleotide variant Fanconi anemia [RCV003066984] Chr16:89795950 [GRCh38]
Chr16:89862358 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3631C>T (p.Leu1211Phe) single nucleotide variant Fanconi anemia [RCV003067015] Chr16:89742934 [GRCh38]
Chr16:89809342 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3635C>A (p.Ser1212Tyr) single nucleotide variant Fanconi anemia [RCV003067079] Chr16:89742930 [GRCh38]
Chr16:89809338 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3409-2A>G single nucleotide variant Fanconi anemia [RCV003072414]|Fanconi anemia complementation group A [RCV003459740] Chr16:89746690 [GRCh38]
Chr16:89813098 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.807A>G (p.Val269=) single nucleotide variant Fanconi anemia [RCV002587515] Chr16:89799624 [GRCh38]
Chr16:89866032 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1188G>A (p.Leu396=) single nucleotide variant Fanconi anemia [RCV003072692] Chr16:89791964 [GRCh38]
Chr16:89858372 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1647G>C (p.Gln549His) single nucleotide variant Fanconi anemia [RCV003067278] Chr16:89779937 [GRCh38]
Chr16:89846345 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1029G>C (p.Gln343His) single nucleotide variant Fanconi anemia [RCV002606638] Chr16:89792525 [GRCh38]
Chr16:89858933 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1014T>C (p.Asp338=) single nucleotide variant Fanconi anemia [RCV002725792] Chr16:89792540 [GRCh38]
Chr16:89858948 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2015-8C>G single nucleotide variant Fanconi anemia [RCV002725796] Chr16:89771822 [GRCh38]
Chr16:89838230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1934C>G (p.Ser645Cys) single nucleotide variant Fanconi anemia [RCV003068928] Chr16:89773351 [GRCh38]
Chr16:89839759 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3372T>C (p.Gly1124=) single nucleotide variant Fanconi anemia [RCV003050735] Chr16:89746867 [GRCh38]
Chr16:89813275 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2516C>G (p.Ala839Gly) single nucleotide variant Fanconi anemia [RCV002612554] Chr16:89767226 [GRCh38]
Chr16:89833634 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1757C>T (p.Ala586Val) single nucleotide variant Fanconi anemia [RCV002612573] Chr16:89778962 [GRCh38]
Chr16:89845370 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1482C>T (p.Leu494=) single nucleotide variant Fanconi anemia [RCV002612646] Chr16:89783091 [GRCh38]
Chr16:89849499 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-3C>T single nucleotide variant Fanconi anemia [RCV002610679] Chr16:89799235 [GRCh38]
Chr16:89865643 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter) single nucleotide variant Fanconi anemia [RCV003155659] Chr16:89767171 [GRCh38]
Chr16:89833579 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.628C>T (p.Leu210Phe) single nucleotide variant Ovarian cancer [RCV003154794] Chr16:89805361 [GRCh38]
Chr16:89871769 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln) single nucleotide variant Fanconi anemia complementation group A [RCV003154597] Chr16:89792493 [GRCh38]
Chr16:89858901 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3828+1del deletion Fanconi anemia complementation group A [RCV003145112] Chr16:89740803 [GRCh38]
Chr16:89807211 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.196G>C (p.Gly66Arg) single nucleotide variant Ovarian cancer [RCV003154821] Chr16:89814607 [GRCh38]
Chr16:89881015 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del deletion Fanconi anemia [RCV003226633] Chr16:89865573..89866047 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del deletion Fanconi anemia [RCV003226635] Chr16:89869666..89877480 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2701G>C (p.Ala901Pro) single nucleotide variant Inborn genetic diseases [RCV003215715] Chr16:89764967 [GRCh38]
Chr16:89831375 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3399C>G (p.His1133Gln) single nucleotide variant not provided [RCV003219003] Chr16:89746840 [GRCh38]
Chr16:89813248 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.1537G>A (p.Val513Ile) single nucleotide variant Inborn genetic diseases [RCV003175138] Chr16:89737868 [GRCh38]
Chr16:89804276 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3307G>T (p.Ala1103Ser) single nucleotide variant Inborn genetic diseases [RCV003221012] Chr16:89748700 [GRCh38]
Chr16:89815108 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.50dup (p.Arg18fs) duplication Fanconi anemia complementation group A [RCV003136913] Chr16:89816565..89816566 [GRCh38]
Chr16:89882973..89882974 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del deletion Fanconi anemia [RCV003226634] Chr16:89831297..89839793 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(89877480_89880927)_(89883066_?)del deletion Fanconi anemia [RCV003226636] Chr16:89880927..89883066 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2339A>T (p.His780Leu) single nucleotide variant Inborn genetic diseases [RCV003304346] Chr16:89770002 [GRCh38]
Chr16:89836410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser) single nucleotide variant Fanconi anemia complementation group A [RCV003147169] Chr16:89773325 [GRCh38]
Chr16:89839733 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe) single nucleotide variant Fanconi anemia complementation group A [RCV003147170] Chr16:89764997 [GRCh38]
Chr16:89831405 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu) single nucleotide variant Fanconi anemia [RCV003636000]|Fanconi anemia complementation group A [RCV003147171] Chr16:89749815 [GRCh38]
Chr16:89816223 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.73C>A (p.Leu25Met) single nucleotide variant Inborn genetic diseases [RCV003215141] Chr16:89816543 [GRCh38]
Chr16:89882951 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1336C>G (p.Leu446Val) single nucleotide variant not provided [RCV003229367] Chr16:89791426 [GRCh38]
Chr16:89857834 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1954C>T (p.Gln652Ter) single nucleotide variant not provided [RCV003321994] Chr16:89773331 [GRCh38]
Chr16:89839739 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2434C>T (p.Leu812Phe) single nucleotide variant not provided [RCV003323110] Chr16:89769907 [GRCh38]
Chr16:89836315 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys) single nucleotide variant Fanconi anemia complementation group A [RCV003460136] Chr16:89791504 [GRCh38]
Chr16:89857912 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.283+2T>C single nucleotide variant Fanconi anemia [RCV003523182]|Fanconi anemia complementation group A [RCV003460150] Chr16:89814518 [GRCh38]
Chr16:89880926 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0 copy number loss Fanconi anemia complementation group A [RCV003327649] Chr16:89764114..89781847 [GRCh38]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*882C>T single nucleotide variant Fanconi anemia complementation group A [RCV003340698] Chr16:89739128 [GRCh38]
Chr16:89805536 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro) single nucleotide variant Fanconi anemia complementation group A [RCV003340680] Chr16:89748756 [GRCh38]
Chr16:89815164 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile) single nucleotide variant Fanconi anemia complementation group A [RCV003338083] Chr16:89770198 [GRCh38]
Chr16:89836606 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2505-2A>C single nucleotide variant Fanconi anemia complementation group A [RCV003338115] Chr16:89767239 [GRCh38]
Chr16:89833647 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2915del (p.Gly972fs) deletion Fanconi anemia complementation group A [RCV003340692] Chr16:89758643 [GRCh38]
Chr16:89825051 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3496A>C (p.Ile1166Leu) single nucleotide variant Inborn genetic diseases [RCV003381868] Chr16:89746601 [GRCh38]
Chr16:89813009 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.449_450del (p.Glu150fs) microsatellite Fanconi anemia complementation group A [RCV003468104] Chr16:89810779..89810780 [GRCh38]
Chr16:89877187..89877188 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1287del (p.Ala430fs) deletion Fanconi anemia [RCV003636021]|Fanconi anemia complementation group A [RCV003468106] Chr16:89791475 [GRCh38]
Chr16:89857883 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs) indel Fanconi anemia complementation group A [RCV003468107] Chr16:89738887..89738888 [GRCh38]
Chr16:89805295..89805296 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003468115] Chr16:89765063 [GRCh38]
Chr16:89831471 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter) microsatellite Fanconi anemia complementation group A [RCV003460144] Chr16:89778814..89778815 [GRCh38]
Chr16:89845222..89845223 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs) deletion Fanconi anemia complementation group A [RCV003460145] Chr16:89767147..89767148 [GRCh38]
Chr16:89833555..89833556 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs) duplication Fanconi anemia complementation group A [RCV003460153] Chr16:89739532..89739533 [GRCh38]
Chr16:89805940..89805941 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.32del (p.Ser11fs) deletion Fanconi anemia complementation group A [RCV003460160] Chr16:89816584 [GRCh38]
Chr16:89882992 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003460162] Chr16:89739141 [GRCh38]
Chr16:89805549 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.16dup (p.Val6fs) duplication Fanconi anemia complementation group A [RCV003460167] Chr16:89816599..89816600 [GRCh38]
Chr16:89883007..89883008 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4100_4167+2del deletion Fanconi anemia complementation group A [RCV003468102] Chr16:89739131..89739200 [GRCh38]
Chr16:89805539..89805608 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.793-2A>T single nucleotide variant Fanconi anemia complementation group A [RCV003468108] Chr16:89799640 [GRCh38]
Chr16:89866048 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1006+1G>A single nucleotide variant Fanconi anemia complementation group A [RCV003468110] Chr16:89795905 [GRCh38]
Chr16:89862313 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer) indel Fanconi anemia complementation group A [RCV003468111] Chr16:89769915 [GRCh38]
Chr16:89836323 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1360-18G>C single nucleotide variant Fanconi anemia [RCV003881381] Chr16:89784982 [GRCh38]
Chr16:89851390 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1084-16G>T single nucleotide variant Fanconi anemia [RCV003524651] Chr16:89792084 [GRCh38]
Chr16:89858492 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala) single nucleotide variant Fanconi anemia [RCV003523208]|not provided [RCV003477189] Chr16:89769909 [GRCh38]
Chr16:89836317 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4033G>T (p.Asp1345Tyr) single nucleotide variant not provided [RCV003477198] Chr16:89739267 [GRCh38]
Chr16:89805675 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4309C>T (p.Gln1437Ter) single nucleotide variant not provided [RCV003477200]|not specified [RCV003988122] Chr16:89738660 [GRCh38]
Chr16:89805068 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.85A>G (p.Arg29Gly) single nucleotide variant not provided [RCV003477204] Chr16:89815981 [GRCh38]
Chr16:89882389 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1007-13T>G single nucleotide variant Fanconi anemia [RCV003524736] Chr16:89792560 [GRCh38]
Chr16:89858968 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3164_3179del (p.Arg1055fs) deletion Fanconi anemia [RCV003524765] Chr16:89749790..89749805 [GRCh38]
Chr16:89816198..89816213 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2222+5A>T single nucleotide variant Fanconi anemia [RCV003873548] Chr16:89770559 [GRCh38]
Chr16:89836967 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1915G>C (p.Val639Leu) single nucleotide variant not provided [RCV003477185] Chr16:89773370 [GRCh38]
Chr16:89839778 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2032G>T (p.Ala678Ser) single nucleotide variant not provided [RCV003477186] Chr16:89771797 [GRCh38]
Chr16:89838205 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2260T>G (p.Cys754Gly) single nucleotide variant not provided [RCV003477187] Chr16:89770222 [GRCh38]
Chr16:89836630 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2321C>A (p.Pro774Gln) single nucleotide variant not provided [RCV003477188] Chr16:89770020 [GRCh38]
Chr16:89836428 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3157C>G (p.Arg1053Gly) single nucleotide variant not provided [RCV003477193] Chr16:89749812 [GRCh38]
Chr16:89816220 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.883G>A (p.Val295Met) single nucleotide variant not provided [RCV003477205] Chr16:89799176 [GRCh38]
Chr16:89865584 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2981+19A>G single nucleotide variant Fanconi anemia [RCV003874700] Chr16:89758558 [GRCh38]
Chr16:89824966 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1863C>T (p.Tyr621=) single nucleotide variant Fanconi anemia [RCV003875346] Chr16:89775779 [GRCh38]
Chr16:89842187 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-17G>A single nucleotide variant Fanconi anemia [RCV003872925] Chr16:89765083 [GRCh38]
Chr16:89831491 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.-2C>G single nucleotide variant not provided [RCV003477192] Chr16:89816617 [GRCh38]
Chr16:89883025 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3256C>T (p.Pro1086Ser) single nucleotide variant not provided [RCV003477195] Chr16:89748751 [GRCh38]
Chr16:89815159 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.921T>G (p.Leu307=) single nucleotide variant not provided [RCV003477207] Chr16:89795991 [GRCh38]
Chr16:89862399 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1626+967_2015-679del deletion Fanconi anemia complementation group A [RCV003444457] Chr16:89772493..89781892 [GRCh38]
Chr16:89838901..89848300 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro) single nucleotide variant Fanconi anemia complementation group A [RCV003388674] Chr16:89764939 [GRCh38]
Chr16:89831347 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.504A>G (p.Gln168=) single nucleotide variant FANCA-related condition [RCV003402438]|Fanconi anemia [RCV003636013] Chr16:89810725 [GRCh38]
Chr16:89877133 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.1113G>C (p.Leu371Phe) single nucleotide variant not provided [RCV003477179] Chr16:89792039 [GRCh38]
Chr16:89858447 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1566+3A>G single nucleotide variant not provided [RCV003477184] Chr16:89783004 [GRCh38]
Chr16:89849412 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2722C>T (p.Leu908Phe) single nucleotide variant not provided [RCV003477191] Chr16:89764946 [GRCh38]
Chr16:89831354 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.914A>C (p.His305Pro) single nucleotide variant not provided [RCV003477206] Chr16:89795998 [GRCh38]
Chr16:89862406 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.141T>C (p.Ala47=) single nucleotide variant not provided [RCV003477181] Chr16:89815925 [GRCh38]
Chr16:89882333 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.389A>T (p.Glu130Val) single nucleotide variant not provided [RCV003477196] Chr16:89810966 [GRCh38]
Chr16:89877374 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.819G>T (p.Met273Ile) single nucleotide variant not provided [RCV003477203] Chr16:89799612 [GRCh38]
Chr16:89866020 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3563dup (p.His1188fs) duplication Fanconi anemia complementation group A [RCV003460143] Chr16:89745021..89745022 [GRCh38]
Chr16:89811429..89811430 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3765+1G>A single nucleotide variant Fanconi anemia complementation group A [RCV003460147] Chr16:89742799 [GRCh38]
Chr16:89809207 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.522+2T>G single nucleotide variant Fanconi anemia complementation group A [RCV003460159] Chr16:89810705 [GRCh38]
Chr16:89877113 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.80-2A>G single nucleotide variant Fanconi anemia complementation group A [RCV003460168] Chr16:89815988 [GRCh38]
Chr16:89882396 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1226-2A>C single nucleotide variant Fanconi anemia complementation group A [RCV003460170] Chr16:89791538 [GRCh38]
Chr16:89857946 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs) indel Fanconi anemia complementation group A [RCV003468098] Chr16:89815882..89815884 [GRCh38]
Chr16:89882290..89882292 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs) indel Fanconi anemia complementation group A [RCV003468105] Chr16:89752153..89752161 [GRCh38]
Chr16:89818561..89818569 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs) deletion Fanconi anemia complementation group A [RCV003468109] Chr16:89791528..89791531 [GRCh38]
Chr16:89857936..89857939 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003468116] Chr16:89792517 [GRCh38]
Chr16:89858925 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001113525.2(ZNF276):c.*604C>G single nucleotide variant not provided [RCV003428013] Chr16:89738850 [GRCh38]
Chr16:89805258 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4109C>T (p.Ala1370Val) single nucleotide variant FANCA-related condition [RCV003405752] Chr16:89739191 [GRCh38]
Chr16:89805599 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_004006.2:g.(?_89845141)_(89858973_?)del deletion Fanconi anemia complementation group A [RCV003389615]   pathogenic
NM_000135.4(FANCA):c.306C>G (p.Ala102=) single nucleotide variant Fanconi anemia [RCV003880614] Chr16:89811049 [GRCh38]
Chr16:89877457 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2087G>A (p.Ser696Asn) single nucleotide variant Fanconi anemia [RCV003880647] Chr16:89771742 [GRCh38]
Chr16:89838150 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1777-3C>G single nucleotide variant not provided [RCV003480227] Chr16:89778853 [GRCh38]
Chr16:89845261 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1270C>G (p.Leu424Val) single nucleotide variant not provided [RCV003477180] Chr16:89791492 [GRCh38]
Chr16:89857900 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1458C>T (p.Pro486=) single nucleotide variant not provided [RCV003477182] Chr16:89784866 [GRCh38]
Chr16:89851274 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2634G>T (p.Glu878Asp) single nucleotide variant not provided [RCV003477190] Chr16:89765034 [GRCh38]
Chr16:89831442 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4000G>T (p.Ala1334Ser) single nucleotide variant not provided [RCV003477197] Chr16:89739488 [GRCh38]
Chr16:89805896 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.426+6A>G single nucleotide variant not provided [RCV003477199] Chr16:89810923 [GRCh38]
Chr16:89877331 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.50G>T (p.Gly17Val) single nucleotide variant not provided [RCV003477201] Chr16:89816566 [GRCh38]
Chr16:89882974 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.522+7T>C single nucleotide variant not provided [RCV003477202] Chr16:89810700 [GRCh38]
Chr16:89877108 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.927T>A (p.Ser309Arg) single nucleotide variant not provided [RCV003477208] Chr16:89795985 [GRCh38]
Chr16:89862393 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3513+12G>T single nucleotide variant Fanconi anemia [RCV003825314] Chr16:89746572 [GRCh38]
Chr16:89812980 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003460148] Chr16:89816601 [GRCh38]
Chr16:89883009 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.155_161del (p.Arg52fs) deletion Fanconi anemia complementation group A [RCV003460156] Chr16:89815905..89815911 [GRCh38]
Chr16:89882313..89882319 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2247del (p.Phe749fs) deletion Fanconi anemia complementation group A [RCV003460163] Chr16:89770235 [GRCh38]
Chr16:89836643 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003460169] Chr16:89814577 [GRCh38]
Chr16:89880985 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1273dup (p.Asp425fs) duplication Fanconi anemia complementation group A [RCV003460141] Chr16:89791488..89791489 [GRCh38]
Chr16:89857896..89857897 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.306del (p.Ser103fs) deletion Fanconi anemia [RCV003779025]|Fanconi anemia complementation group A [RCV003460171] Chr16:89811049 [GRCh38]
Chr16:89877457 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.3662A>T (p.Asn1221Ile) single nucleotide variant FANCA-related condition [RCV003402549]|Fanconi anemia [RCV003636014] Chr16:89742903 [GRCh38]
Chr16:89809311 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_000135.4(FANCA):c.94del (p.Arg32fs) deletion Fanconi anemia complementation group A [RCV003468094] Chr16:89815972 [GRCh38]
Chr16:89882380 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3409-3_3417del deletion Fanconi anemia complementation group A [RCV003468099] Chr16:89746680..89746691 [GRCh38]
Chr16:89813088..89813099 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.80-99_105del deletion Fanconi anemia complementation group A [RCV003468101] Chr16:89815961..89816085 [GRCh38]
Chr16:89882369..89882493 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs) deletion Fanconi anemia complementation group A [RCV003468112] Chr16:89738895..89738911 [GRCh38]
Chr16:89805303..89805319 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs) duplication Fanconi anemia complementation group A [RCV003468114] Chr16:89808349..89808350 [GRCh38]
Chr16:89874757..89874758 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3409-25_3418del deletion Fanconi anemia complementation group A [RCV003460140] Chr16:89746679..89746713 [GRCh38]
Chr16:89813087..89813121 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3504_3513+55del deletion Fanconi anemia complementation group A [RCV003460146] Chr16:89746529..89746593 [GRCh38]
Chr16:89812937..89813001 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003460157] Chr16:89752220 [GRCh38]
Chr16:89818628 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3208del (p.Gln1070fs) deletion Fanconi anemia complementation group A [RCV003460161] Chr16:89749761 [GRCh38]
Chr16:89816169 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs) microsatellite Fanconi anemia complementation group A [RCV003460174] Chr16:89765020..89765021 [GRCh38]
Chr16:89831428..89831429 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs) indel Fanconi anemia complementation group A [RCV003460176] Chr16:89746844..89746846 [GRCh38]
Chr16:89813252..89813254 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2957del (p.Asn986fs) deletion FANCA-related condition [RCV003399980]|Fanconi anemia [RCV003523170] Chr16:89758601 [GRCh38]
Chr16:89825009 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter) single nucleotide variant Fanconi anemia [RCV003523183]|Fanconi anemia complementation group A [RCV003460172] Chr16:89805362 [GRCh38]
Chr16:89871770 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1410G>A (p.Leu470=) single nucleotide variant not provided [RCV003419538] Chr16:89784914 [GRCh38]
Chr16:89851322 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2965A>G (p.Met989Val) single nucleotide variant not provided [RCV003419537] Chr16:89758593 [GRCh38]
Chr16:89825001 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs) microsatellite Fanconi anemia complementation group A [RCV003468093] Chr16:89740027..89740028 [GRCh38]
Chr16:89806435..89806436 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1326del (p.Ser443fs) deletion Fanconi anemia complementation group A [RCV003468095] Chr16:89791436 [GRCh38]
Chr16:89857844 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs) deletion Fanconi anemia complementation group A [RCV003468097] Chr16:89740847..89740851 [GRCh38]
Chr16:89807255..89807259 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3937del (p.Leu1313fs) deletion Fanconi anemia complementation group A [RCV003468100] Chr16:89739551 [GRCh38]
Chr16:89805959 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003468103] Chr16:89815961 [GRCh38]
Chr16:89882369 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.83del (p.Gly28fs) deletion Fanconi anemia complementation group A [RCV003468113] Chr16:89815983 [GRCh38]
Chr16:89882391 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1982G>C (p.Arg661Thr) single nucleotide variant FANCA-related condition [RCV003400409] Chr16:89773303 [GRCh38]
Chr16:89839711 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*469G>C single nucleotide variant Fanconi anemia [RCV003778489]|Fanconi anemia complementation group A [RCV003444449] Chr16:89738715 [GRCh38]
Chr16:89805123 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter) duplication Fanconi anemia complementation group A [RCV003389376] Chr16:89752210..89752211 [GRCh38]
Chr16:89818618..89818619 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3813A>G (p.Ser1271=) single nucleotide variant not provided [RCV003413062] Chr16:89740819 [GRCh38]
Chr16:89807227 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.522+6T>C single nucleotide variant not provided [RCV003413063] Chr16:89810701 [GRCh38]
Chr16:89877109 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.79+58C>T single nucleotide variant not provided [RCV003413064] Chr16:89816479 [GRCh38]
Chr16:89882887 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2316G>C (p.Gln772His) single nucleotide variant FANCA-related condition [RCV003417006] Chr16:89770166 [GRCh38]
Chr16:89836574 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.768T>A (p.Thr256=) single nucleotide variant not provided [RCV003428014] Chr16:89803283 [GRCh38]
Chr16:89869691 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1547C>G (p.Thr516Arg) single nucleotide variant FANCA-related condition [RCV003399987] Chr16:89783026 [GRCh38]
Chr16:89849434 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1514C>A (p.Ser505Tyr) single nucleotide variant FANCA-related condition [RCV003400393] Chr16:89783059 [GRCh38]
Chr16:89849467 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1826+2T>C single nucleotide variant Fanconi anemia complementation group A [RCV003460154] Chr16:89778799 [GRCh38]
Chr16:89845207 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter) single nucleotide variant Fanconi anemia complementation group A [RCV003460164] Chr16:89791993 [GRCh38]
Chr16:89858401 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3096del (p.Asp1033fs) deletion Fanconi anemia complementation group A [RCV003460173] Chr16:89749873 [GRCh38]
Chr16:89816281 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.4167+1G>A single nucleotide variant Fanconi anemia complementation group A [RCV003444397] Chr16:89739132 [GRCh38]
Chr16:89805540 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.168C>T (p.Asp56=) single nucleotide variant Fanconi anemia [RCV003881081] Chr16:89815898 [GRCh38]
Chr16:89882306 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427-12C>G single nucleotide variant Fanconi anemia [RCV003524556] Chr16:89810814 [GRCh38]
Chr16:89877222 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs) deletion Fanconi anemia [RCV003524645] Chr16:89746844..89746845 [GRCh38]
Chr16:89813252..89813253 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1900+8C>T single nucleotide variant Fanconi anemia [RCV003524787] Chr16:89775734 [GRCh38]
Chr16:89842142 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+15C>T single nucleotide variant Fanconi anemia [RCV003524809] Chr16:89749715 [GRCh38]
Chr16:89816123 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.16G>T (p.Val6Phe) single nucleotide variant Fanconi anemia [RCV003524853] Chr16:89816600 [GRCh38]
Chr16:89883008 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-20G>T single nucleotide variant Fanconi anemia [RCV003524894] Chr16:89811091 [GRCh38]
Chr16:89877499 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2316+17T>A single nucleotide variant Fanconi anemia [RCV003849218] Chr16:89770149 [GRCh38]
Chr16:89836557 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.324C>A (p.Pro108=) single nucleotide variant Fanconi anemia [RCV003825525] Chr16:89811031 [GRCh38]
Chr16:89877439 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.779A>G (p.Glu260Gly) single nucleotide variant Fanconi anemia [RCV003524856] Chr16:89803272 [GRCh38]
Chr16:89869680 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.894-15C>G single nucleotide variant Fanconi anemia [RCV003524996] Chr16:89796033 [GRCh38]
Chr16:89862441 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*617G>T single nucleotide variant Fanconi anemia [RCV003525021] Chr16:89738863 [GRCh38]
Chr16:89805271 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-18C>G single nucleotide variant Fanconi anemia [RCV003524970] Chr16:89799656 [GRCh38]
Chr16:89866064 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.954G>A (p.Arg318=) single nucleotide variant Fanconi anemia [RCV003525066] Chr16:89795958 [GRCh38]
Chr16:89862366 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-16C>G single nucleotide variant Fanconi anemia [RCV003525085] Chr16:89799654 [GRCh38]
Chr16:89866062 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2546G>T single nucleotide variant Fanconi anemia [RCV003830825] Chr16:89740792 [GRCh38]
Chr16:89807200 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.197G>A (p.Gly66Asp) single nucleotide variant Fanconi anemia [RCV003525086] Chr16:89814606 [GRCh38]
Chr16:89881014 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3503C>T (p.Thr1168Ile) single nucleotide variant Fanconi anemia [RCV003525099] Chr16:89746594 [GRCh38]
Chr16:89813002 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1626+14A>G single nucleotide variant Fanconi anemia [RCV003880403] Chr16:89782845 [GRCh38]
Chr16:89849253 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2178C>T (p.Phe726=) single nucleotide variant Fanconi anemia [RCV003525204] Chr16:89770608 [GRCh38]
Chr16:89837016 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-17C>T single nucleotide variant Fanconi anemia [RCV003876892] Chr16:89779974 [GRCh38]
Chr16:89846382 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3626+19A>C single nucleotide variant Fanconi anemia [RCV003525264] Chr16:89744940 [GRCh38]
Chr16:89811348 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter) single nucleotide variant Fanconi anemia [RCV003525343] Chr16:89758626 [GRCh38]
Chr16:89825034 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1566+14C>T single nucleotide variant Fanconi anemia [RCV003880771] Chr16:89782993 [GRCh38]
Chr16:89849401 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2981+13C>T single nucleotide variant Fanconi anemia [RCV003525358] Chr16:89758564 [GRCh38]
Chr16:89824972 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*482C>A single nucleotide variant Fanconi anemia [RCV003881974] Chr16:89738728 [GRCh38]
Chr16:89805136 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.495C>G (p.Ser165=) single nucleotide variant Fanconi anemia [RCV003831411] Chr16:89810734 [GRCh38]
Chr16:89877142 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2403G>T (p.Val801=) single nucleotide variant Fanconi anemia [RCV003525207] Chr16:89769938 [GRCh38]
Chr16:89836346 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1534del (p.Ser512fs) deletion Fanconi anemia [RCV003525286] Chr16:89783039 [GRCh38]
Chr16:89849447 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.231G>A (p.Val77=) single nucleotide variant Fanconi anemia [RCV003881126] Chr16:89814572 [GRCh38]
Chr16:89880980 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3195G>C (p.Val1065=) single nucleotide variant Fanconi anemia [RCV003524544] Chr16:89749774 [GRCh38]
Chr16:89816182 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3470C>T (p.Ala1157Val) single nucleotide variant Fanconi anemia [RCV003828131] Chr16:89746627 [GRCh38]
Chr16:89813035 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1818T>C (p.Ser606=) single nucleotide variant Fanconi anemia [RCV003524630] Chr16:89778809 [GRCh38]
Chr16:89845217 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1740T>A single nucleotide variant Fanconi anemia [RCV003524649] Chr16:89739986 [GRCh38]
Chr16:89806394 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3393T>A (p.Thr1131=) single nucleotide variant Fanconi anemia [RCV003524655] Chr16:89746846 [GRCh38]
Chr16:89813254 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.363G>C (p.Val121=) single nucleotide variant Fanconi anemia [RCV003829371] Chr16:89810992 [GRCh38]
Chr16:89877400 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.765A>G (p.Arg255=) single nucleotide variant Fanconi anemia [RCV003524683] Chr16:89803286 [GRCh38]
Chr16:89869694 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2151+11G>T single nucleotide variant Fanconi anemia [RCV003524773] Chr16:89771667 [GRCh38]
Chr16:89838075 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4116T>C (p.Asp1372=) single nucleotide variant Fanconi anemia [RCV003524797] Chr16:89739184 [GRCh38]
Chr16:89805592 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-8G>T single nucleotide variant Fanconi anemia [RCV003524800] Chr16:89779965 [GRCh38]
Chr16:89846373 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+13G>A single nucleotide variant Fanconi anemia [RCV003830302] Chr16:89775729 [GRCh38]
Chr16:89842137 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1167G>A (p.Val389=) single nucleotide variant Fanconi anemia [RCV003880611] Chr16:89791985 [GRCh38]
Chr16:89858393 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1216del deletion Fanconi anemia [RCV003524917] Chr16:89739460 [GRCh38]
Chr16:89805868 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1383C>T (p.Gly461=) single nucleotide variant Fanconi anemia [RCV003524941] Chr16:89784941 [GRCh38]
Chr16:89851349 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2151+4G>C single nucleotide variant Fanconi anemia [RCV003880709] Chr16:89771674 [GRCh38]
Chr16:89838082 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3567C>T (p.Cys1189=) single nucleotide variant Fanconi anemia [RCV003524989] Chr16:89745018 [GRCh38]
Chr16:89811426 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1614G>C (p.Gly538=) single nucleotide variant Fanconi anemia [RCV003525007] Chr16:89782871 [GRCh38]
Chr16:89849279 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-16_1007-15del deletion Fanconi anemia [RCV003525008] Chr16:89792562..89792563 [GRCh38]
Chr16:89858970..89858971 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+11G>T single nucleotide variant Fanconi anemia [RCV003827785] Chr16:89799155 [GRCh38]
Chr16:89865563 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-15C>G single nucleotide variant Fanconi anemia [RCV003882271] Chr16:89779972 [GRCh38]
Chr16:89846380 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1736C>T single nucleotide variant Fanconi anemia [RCV003830140] Chr16:89739982 [GRCh38]
Chr16:89806390 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3620C>T (p.Ala1207Val) single nucleotide variant Fanconi anemia [RCV003525009] Chr16:89744965 [GRCh38]
Chr16:89811373 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1186C>T (p.Leu396=) single nucleotide variant Fanconi anemia [RCV003877373] Chr16:89791966 [GRCh38]
Chr16:89858374 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3626+2T>G single nucleotide variant Fanconi anemia [RCV003878196] Chr16:89744957 [GRCh38]
Chr16:89811365 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3255G>C (p.Leu1085=) single nucleotide variant Fanconi anemia [RCV003525149] Chr16:89748752 [GRCh38]
Chr16:89815160 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+16G>T single nucleotide variant Fanconi anemia [RCV003525161] Chr16:89770548 [GRCh38]
Chr16:89836956 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1006+19C>G single nucleotide variant Fanconi anemia [RCV003525192] Chr16:89795887 [GRCh38]
Chr16:89862295 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.768T>G (p.Thr256=) single nucleotide variant Fanconi anemia [RCV003525060] Chr16:89803283 [GRCh38]
Chr16:89869691 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.189+20C>A single nucleotide variant Fanconi anemia [RCV003525072] Chr16:89815857 [GRCh38]
Chr16:89882265 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3936C>T (p.Asp1312=) single nucleotide variant Fanconi anemia [RCV003525227] Chr16:89739552 [GRCh38]
Chr16:89805960 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.894-16T>C single nucleotide variant Fanconi anemia [RCV003525232] Chr16:89796034 [GRCh38]
Chr16:89862442 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3345G>A (p.Glu1115=) single nucleotide variant Fanconi anemia [RCV003877253] Chr16:89748662 [GRCh38]
Chr16:89815070 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2931G>A (p.Leu977=) single nucleotide variant Fanconi anemia [RCV003525255] Chr16:89758627 [GRCh38]
Chr16:89825035 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2285T>C (p.Leu762Pro) single nucleotide variant Fanconi anemia [RCV003875976] Chr16:89770197 [GRCh38]
Chr16:89836605 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1007-1G>A single nucleotide variant Fanconi anemia [RCV003876477] Chr16:89792548 [GRCh38]
Chr16:89858956 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs) microsatellite Fanconi anemia [RCV003829590] Chr16:89770219..89770220 [GRCh38]
Chr16:89836627..89836628 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3409-20T>C single nucleotide variant Fanconi anemia [RCV003878447] Chr16:89746708 [GRCh38]
Chr16:89813116 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.825T>A (p.Ile275=) single nucleotide variant Fanconi anemia [RCV003524557] Chr16:89799606 [GRCh38]
Chr16:89866014 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2283G>A (p.Val761=) single nucleotide variant Fanconi anemia [RCV003524599] Chr16:89770199 [GRCh38]
Chr16:89836607 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.153G>T (p.Leu51=) single nucleotide variant Fanconi anemia [RCV003524583] Chr16:89815913 [GRCh38]
Chr16:89882321 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3633C>G (p.Leu1211=) single nucleotide variant Fanconi anemia [RCV003524832] Chr16:89742932 [GRCh38]
Chr16:89809340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2852+17G>C single nucleotide variant Fanconi anemia [RCV003524980] Chr16:89761932 [GRCh38]
Chr16:89828340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3543G>A (p.Leu1181=) single nucleotide variant Fanconi anemia [RCV003827008] Chr16:89745042 [GRCh38]
Chr16:89811450 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4209G>A (p.Leu1403=) single nucleotide variant Fanconi anemia [RCV003524990] Chr16:89738933 [GRCh38]
Chr16:89805341 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2515_*2543del deletion Fanconi anemia [RCV003825728] Chr16:89740761..89740789 [GRCh38]
Chr16:89807169..89807197 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+6T>C single nucleotide variant Fanconi anemia [RCV003525024] Chr16:89816531 [GRCh38]
Chr16:89882939 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1218G>T single nucleotide variant Fanconi anemia [RCV003525048] Chr16:89739464 [GRCh38]
Chr16:89805872 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2091T>G (p.Val697=) single nucleotide variant Fanconi anemia [RCV003525081] Chr16:89771738 [GRCh38]
Chr16:89838146 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2633_*2634dup duplication Fanconi anemia [RCV003525094] Chr16:89740878..89740879 [GRCh38]
Chr16:89807286..89807287 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4101C>T (p.Leu1367=) single nucleotide variant Fanconi anemia [RCV003825620] Chr16:89739199 [GRCh38]
Chr16:89805607 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1755C>A (p.Pro585=) single nucleotide variant Fanconi anemia [RCV003876806] Chr16:89778964 [GRCh38]
Chr16:89845372 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1083+18T>C single nucleotide variant Fanconi anemia [RCV003525143] Chr16:89792453 [GRCh38]
Chr16:89858861 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.894-19C>T single nucleotide variant Fanconi anemia [RCV003524591] Chr16:89796037 [GRCh38]
Chr16:89862445 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2317-17C>A single nucleotide variant Fanconi anemia [RCV003524595] Chr16:89770041 [GRCh38]
Chr16:89836449 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2463C>T (p.Leu821=) single nucleotide variant Fanconi anemia [RCV003877819] Chr16:89769878 [GRCh38]
Chr16:89836286 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3240-12C>T single nucleotide variant Fanconi anemia [RCV003882613] Chr16:89748779 [GRCh38]
Chr16:89815187 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.915C>T (p.His305=) single nucleotide variant Fanconi anemia [RCV003524607] Chr16:89795997 [GRCh38]
Chr16:89862405 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1731AGC[1] microsatellite Fanconi anemia [RCV003525257] Chr16:89739976..89739978 [GRCh38]
Chr16:89806384..89806386 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3437G>A (p.Arg1146Lys) single nucleotide variant Fanconi anemia [RCV003524576] Chr16:89746660 [GRCh38]
Chr16:89813068 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.827-20G>T single nucleotide variant Fanconi anemia [RCV003878753] Chr16:89799252 [GRCh38]
Chr16:89865660 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3765+19T>C single nucleotide variant Fanconi anemia [RCV003524803] Chr16:89742781 [GRCh38]
Chr16:89809189 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4239G>A (p.Lys1413=) single nucleotide variant Fanconi anemia [RCV003525278] Chr16:89738903 [GRCh38]
Chr16:89805311 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.275C>T (p.Ser92Leu) single nucleotide variant Fanconi anemia [RCV003524818] Chr16:89814528 [GRCh38]
Chr16:89880936 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4250_4251del (p.His1417fs) microsatellite Fanconi anemia [RCV003524842] Chr16:89738891..89738892 [GRCh38]
Chr16:89805299..89805300 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3765+18T>G single nucleotide variant Fanconi anemia [RCV003525326] Chr16:89742782 [GRCh38]
Chr16:89809190 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2449C>G (p.Leu817Val) single nucleotide variant Fanconi anemia [RCV003525329] Chr16:89769892 [GRCh38]
Chr16:89836300 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1776+16C>T single nucleotide variant Fanconi anemia [RCV003880632] Chr16:89778927 [GRCh38]
Chr16:89845335 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.318G>A (p.Gly106=) single nucleotide variant Fanconi anemia [RCV003878845] Chr16:89811037 [GRCh38]
Chr16:89877445 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3240-12C>G single nucleotide variant Fanconi anemia [RCV003878700] Chr16:89748779 [GRCh38]
Chr16:89815187 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2982-192A>C single nucleotide variant Fanconi anemia [RCV003878749] Chr16:89752414 [GRCh38]
Chr16:89818822 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.63C>G (p.Ala21=) single nucleotide variant Fanconi anemia [RCV003524897] Chr16:89816553 [GRCh38]
Chr16:89882961 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-16T>A single nucleotide variant Fanconi anemia [RCV003524902] Chr16:89762038 [GRCh38]
Chr16:89828446 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3067-20A>T single nucleotide variant Fanconi anemia [RCV003525340] Chr16:89749922 [GRCh38]
Chr16:89816330 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+14C>T single nucleotide variant Fanconi anemia [RCV003524915] Chr16:89749716 [GRCh38]
Chr16:89816124 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1857C>A (p.Ser619=) single nucleotide variant Fanconi anemia [RCV003877532] Chr16:89775785 [GRCh38]
Chr16:89842193 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-4dup duplication Fanconi anemia [RCV003877506] Chr16:89808370..89808371 [GRCh38]
Chr16:89874778..89874779 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.4264C>A (p.Leu1422Met) single nucleotide variant Fanconi anemia [RCV003524893] Chr16:89738705 [GRCh38]
Chr16:89805113 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3765+16C>G single nucleotide variant Fanconi anemia [RCV003524886] Chr16:89742784 [GRCh38]
Chr16:89809192 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1084-5T>G single nucleotide variant Fanconi anemia [RCV003524122] Chr16:89792073 [GRCh38]
Chr16:89858481 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3768A>C (p.Leu1256=) single nucleotide variant Fanconi anemia [RCV003522873] Chr16:89740864 [GRCh38]
Chr16:89807272 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1006+14G>C single nucleotide variant Fanconi anemia [RCV003524144] Chr16:89795892 [GRCh38]
Chr16:89862300 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1083+8G>C single nucleotide variant Fanconi anemia [RCV003524166] Chr16:89792463 [GRCh38]
Chr16:89858871 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2760G>C (p.Leu920Phe) single nucleotide variant Fanconi anemia [RCV003836138] Chr16:89764908 [GRCh38]
Chr16:89831316 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.346A>C (p.Met116Leu) single nucleotide variant Fanconi anemia [RCV003524289] Chr16:89811009 [GRCh38]
Chr16:89877417 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.9C>T (p.Asp3=) single nucleotide variant Fanconi anemia [RCV003523280] Chr16:89816607 [GRCh38]
Chr16:89883015 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-15T>C single nucleotide variant Fanconi anemia [RCV003523287] Chr16:89811086 [GRCh38]
Chr16:89877494 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1677G>A (p.Glu559=) single nucleotide variant Fanconi anemia [RCV003524403] Chr16:89779907 [GRCh38]
Chr16:89846315 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+11G>C single nucleotide variant Fanconi anemia [RCV003524412] Chr16:89770553 [GRCh38]
Chr16:89836961 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.814A>T (p.Arg272Ter) single nucleotide variant Fanconi anemia [RCV003523359] Chr16:89799617 [GRCh38]
Chr16:89866025 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1991T>G (p.Met664Arg) single nucleotide variant Fanconi anemia [RCV003524487] Chr16:89773294 [GRCh38]
Chr16:89839702 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1826+17A>T single nucleotide variant Fanconi anemia [RCV003522151] Chr16:89778784 [GRCh38]
Chr16:89845192 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1360-17C>T single nucleotide variant Fanconi anemia [RCV003835075] Chr16:89784981 [GRCh38]
Chr16:89851389 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+20C>A single nucleotide variant Fanconi anemia [RCV003523502] Chr16:89799146 [GRCh38]
Chr16:89865554 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-11C>T single nucleotide variant Fanconi anemia [RCV003851545] Chr16:89765077 [GRCh38]
Chr16:89831485 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3981_3982inv (p.Thr1328Ala) inversion Fanconi anemia [RCV003523472] Chr16:89739506..89739507 [GRCh38]
Chr16:89805914..89805915 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-12T>C single nucleotide variant Fanconi anemia [RCV003522202] Chr16:89762034 [GRCh38]
Chr16:89828442 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3756G>A (p.Glu1252=) single nucleotide variant Fanconi anemia [RCV003522189] Chr16:89742809 [GRCh38]
Chr16:89809217 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1017T>C (p.Ala339=) single nucleotide variant Fanconi anemia [RCV003523546] Chr16:89792537 [GRCh38]
Chr16:89858945 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1827-17G>C single nucleotide variant Fanconi anemia [RCV003522198] Chr16:89775832 [GRCh38]
Chr16:89842240 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3240-20A>G single nucleotide variant Fanconi anemia [RCV003523524] Chr16:89748787 [GRCh38]
Chr16:89815195 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-15C>T single nucleotide variant Fanconi anemia [RCV003523599] Chr16:89746703 [GRCh38]
Chr16:89813111 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1627-11A>G single nucleotide variant Fanconi anemia [RCV003523610] Chr16:89779968 [GRCh38]
Chr16:89846376 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter) single nucleotide variant Fanconi anemia [RCV003522219] Chr16:89803315 [GRCh38]
Chr16:89869723 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.709+14A>G single nucleotide variant Fanconi anemia [RCV003523588] Chr16:89805266 [GRCh38]
Chr16:89871674 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1690A>G (p.Ile564Val) single nucleotide variant Fanconi anemia [RCV003523593] Chr16:89779894 [GRCh38]
Chr16:89846302 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1608A>G (p.Ser536=) single nucleotide variant Fanconi anemia [RCV003522247] Chr16:89782877 [GRCh38]
Chr16:89849285 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+16A>G single nucleotide variant Fanconi anemia [RCV003522295] Chr16:89782991 [GRCh38]
Chr16:89849399 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-12C>T single nucleotide variant Fanconi anemia [RCV003522333] Chr16:89799244 [GRCh38]
Chr16:89865652 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+17G>A single nucleotide variant Fanconi anemia [RCV003522317] Chr16:89791910 [GRCh38]
Chr16:89858318 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4190C>A (p.Thr1397Lys) single nucleotide variant Fanconi anemia [RCV003522385] Chr16:89738952 [GRCh38]
Chr16:89805360 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1715+13G>T single nucleotide variant Fanconi anemia [RCV003523535] Chr16:89779856 [GRCh38]
Chr16:89846264 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.192A>G (p.Val64=) single nucleotide variant Fanconi anemia [RCV003522472] Chr16:89814611 [GRCh38]
Chr16:89881019 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3939C>T (p.Leu1313=) single nucleotide variant Fanconi anemia [RCV003523721] Chr16:89739549 [GRCh38]
Chr16:89805957 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-37TTGTTT[4] microsatellite Fanconi anemia [RCV003522387] Chr16:89808386..89808387 [GRCh38]
Chr16:89874794..89874795 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1989C>T (p.Ser663=) single nucleotide variant Fanconi anemia [RCV003522411] Chr16:89773296 [GRCh38]
Chr16:89839704 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1266C>T (p.Cys422=) single nucleotide variant Fanconi anemia [RCV003522466] Chr16:89791496 [GRCh38]
Chr16:89857904 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2868G>A (p.Gln956=) single nucleotide variant Fanconi anemia [RCV003522484] Chr16:89758690 [GRCh38]
Chr16:89825098 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3867A>T (p.Ala1289=) single nucleotide variant Fanconi anemia [RCV003523780] Chr16:89740061 [GRCh38]
Chr16:89806469 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3204C>T (p.Ser1068=) single nucleotide variant Fanconi anemia [RCV003522583] Chr16:89749765 [GRCh38]
Chr16:89816173 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3450G>T (p.Leu1150=) single nucleotide variant Fanconi anemia [RCV003523838] Chr16:89746647 [GRCh38]
Chr16:89813055 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+2T>G single nucleotide variant Fanconi anemia [RCV003522680] Chr16:89814518 [GRCh38]
Chr16:89880926 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*2632A>G single nucleotide variant Fanconi anemia [RCV003523861] Chr16:89740878 [GRCh38]
Chr16:89807286 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3180A>T (p.Thr1060=) single nucleotide variant Fanconi anemia [RCV003522663] Chr16:89749789 [GRCh38]
Chr16:89816197 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs) insertion Fanconi anemia [RCV003832664] Chr16:89761970..89761971 [GRCh38]
Chr16:89828378..89828379 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1515C>T (p.Ser505=) single nucleotide variant Fanconi anemia [RCV003522744] Chr16:89783058 [GRCh38]
Chr16:89849466 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1849C>G (p.Leu617Val) single nucleotide variant Fanconi anemia [RCV003522812] Chr16:89775793 [GRCh38]
Chr16:89842201 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3066+11G>A single nucleotide variant Fanconi anemia [RCV003522828] Chr16:89752127 [GRCh38]
Chr16:89818535 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3328del (p.His1110fs) deletion Fanconi anemia [RCV003523732] Chr16:89748679 [GRCh38]
Chr16:89815087 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1826+20A>G single nucleotide variant Fanconi anemia [RCV003524245] Chr16:89778781 [GRCh38]
Chr16:89845189 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1869G>A (p.Gln623=) single nucleotide variant Fanconi anemia [RCV003524255] Chr16:89775773 [GRCh38]
Chr16:89842181 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1869G>C single nucleotide variant Fanconi anemia [RCV003635822] Chr16:89740115 [GRCh38]
Chr16:89806523 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3135G>A (p.Glu1045=) single nucleotide variant Fanconi anemia [RCV003635829] Chr16:89749834 [GRCh38]
Chr16:89816242 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3066+1G>C single nucleotide variant Fanconi anemia [RCV003637031] Chr16:89752137 [GRCh38]
Chr16:89818545 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001113525.2(ZNF276):c.*622C>T single nucleotide variant Fanconi anemia [RCV003637238] Chr16:89738868 [GRCh38]
Chr16:89805276 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1119C>G (p.Gly373=) single nucleotide variant Fanconi anemia [RCV003637388] Chr16:89792033 [GRCh38]
Chr16:89858441 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1323C>A (p.Gly441=) single nucleotide variant Fanconi anemia [RCV003637389] Chr16:89791439 [GRCh38]
Chr16:89857847 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4041C>A (p.Ala1347=) single nucleotide variant Fanconi anemia [RCV003637391] Chr16:89739259 [GRCh38]
Chr16:89805667 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-15T>C single nucleotide variant Fanconi anemia [RCV003635820] Chr16:89808382 [GRCh38]
Chr16:89874790 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1434A>C (p.Ser478=) single nucleotide variant Fanconi anemia [RCV003635825] Chr16:89784890 [GRCh38]
Chr16:89851298 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1647G>A (p.Gln549=) single nucleotide variant Fanconi anemia [RCV003635834] Chr16:89779937 [GRCh38]
Chr16:89846345 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1225G>A single nucleotide variant Fanconi anemia [RCV003522494] Chr16:89739471 [GRCh38]
Chr16:89805879 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1826+18G>T single nucleotide variant Fanconi anemia [RCV003522511] Chr16:89778783 [GRCh38]
Chr16:89845191 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs) microsatellite Fanconi anemia [RCV003523766] Chr16:89742887..89742888 [GRCh38]
Chr16:89809295..89809296 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1782C>T (p.Pro594=) single nucleotide variant Fanconi anemia [RCV003524268] Chr16:89778845 [GRCh38]
Chr16:89845253 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2126C>G (p.Pro709Arg) single nucleotide variant Fanconi anemia [RCV003636372] Chr16:89771703 [GRCh38]
Chr16:89838111 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2505-12T>G single nucleotide variant Fanconi anemia [RCV003637241] Chr16:89767249 [GRCh38]
Chr16:89833657 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3067-10T>A single nucleotide variant Fanconi anemia [RCV003637396] Chr16:89749912 [GRCh38]
Chr16:89816320 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2464C>T (p.Leu822=) single nucleotide variant Fanconi anemia [RCV003637398] Chr16:89769877 [GRCh38]
Chr16:89836285 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+5G>A single nucleotide variant Fanconi anemia [RCV003522539] Chr16:89773266 [GRCh38]
Chr16:89839674 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3869C>T (p.Ala1290Val) single nucleotide variant Fanconi anemia [RCV003522540] Chr16:89740059 [GRCh38]
Chr16:89806467 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3829-71_3868del deletion Fanconi anemia [RCV003523795] Chr16:89740060..89740170 [GRCh38]
Chr16:89806468..89806578 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2317-19A>T single nucleotide variant Fanconi anemia [RCV003524304] Chr16:89770043 [GRCh38]
Chr16:89836451 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1777-12C>G single nucleotide variant Fanconi anemia [RCV003524323] Chr16:89778862 [GRCh38]
Chr16:89845270 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3408+11C>T single nucleotide variant Fanconi anemia [RCV003636400] Chr16:89746820 [GRCh38]
Chr16:89813228 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+20A>G single nucleotide variant Fanconi anemia [RCV003636136] Chr16:89767121 [GRCh38]
Chr16:89833529 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1065C>G (p.Leu355=) single nucleotide variant Fanconi anemia [RCV003637087] Chr16:89792489 [GRCh38]
Chr16:89858897 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3626+7G>T single nucleotide variant Fanconi anemia [RCV003637090] Chr16:89744952 [GRCh38]
Chr16:89811360 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2548T>G single nucleotide variant Fanconi anemia [RCV003637251] Chr16:89740794 [GRCh38]
Chr16:89807202 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-14G>T single nucleotide variant Fanconi anemia [RCV003637408] Chr16:89762036 [GRCh38]
Chr16:89828444 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3240-16A>G single nucleotide variant Fanconi anemia [RCV003637410] Chr16:89748783 [GRCh38]
Chr16:89815191 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2614A>G (p.Met872Val) single nucleotide variant Fanconi anemia [RCV003637411] Chr16:89765054 [GRCh38]
Chr16:89831462 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.50G>A (p.Gly17Asp) single nucleotide variant Fanconi anemia [RCV003522587] Chr16:89816566 [GRCh38]
Chr16:89882974 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.757C>T (p.Leu253=) single nucleotide variant Fanconi anemia [RCV003523818] Chr16:89803294 [GRCh38]
Chr16:89869702 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3160A>C (p.Arg1054=) single nucleotide variant Fanconi anemia [RCV003524348] Chr16:89749809 [GRCh38]
Chr16:89816217 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4295T>G (p.Val1432Gly) single nucleotide variant Fanconi anemia [RCV003833931] Chr16:89738674 [GRCh38]
Chr16:89805082 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2982-19T>C single nucleotide variant Fanconi anemia [RCV003524379] Chr16:89752241 [GRCh38]
Chr16:89818649 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1567-16T>C single nucleotide variant Fanconi anemia [RCV003636185] Chr16:89782934 [GRCh38]
Chr16:89849342 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-12T>C single nucleotide variant Fanconi anemia [RCV003636216] Chr16:89765078 [GRCh38]
Chr16:89831486 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.261T>C (p.Ala87=) single nucleotide variant Fanconi anemia [RCV003637105] Chr16:89814542 [GRCh38]
Chr16:89880950 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+8A>G single nucleotide variant Fanconi anemia [RCV003637262] Chr16:89814512 [GRCh38]
Chr16:89880920 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2316+17T>C single nucleotide variant Fanconi anemia [RCV003637263] Chr16:89770149 [GRCh38]
Chr16:89836557 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.948G>C (p.Leu316=) single nucleotide variant Fanconi anemia [RCV003522633] Chr16:89795964 [GRCh38]
Chr16:89862372 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1336C>T (p.Leu446=) single nucleotide variant Fanconi anemia [RCV003849802] Chr16:89791426 [GRCh38]
Chr16:89857834 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.10:g.89746689dup duplication Fanconi anemia [RCV003523360] Chr16:89746686..89746687 [GRCh38]
Chr16:89813094..89813095 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1083+8del deletion Fanconi anemia [RCV003524386] Chr16:89792463 [GRCh38]
Chr16:89858871 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3990G>C (p.Leu1330=) single nucleotide variant Fanconi anemia [RCV003524387] Chr16:89739498 [GRCh38]
Chr16:89805906 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2293del (p.Leu765fs) deletion Fanconi anemia [RCV003524419] Chr16:89770189 [GRCh38]
Chr16:89836597 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*867G>T single nucleotide variant Fanconi anemia [RCV003636454] Chr16:89739113 [GRCh38]
Chr16:89805521 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1098G>A (p.Leu366=) single nucleotide variant Fanconi anemia [RCV003636232] Chr16:89792054 [GRCh38]
Chr16:89858462 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+11G>C single nucleotide variant Fanconi anemia [RCV003636234] Chr16:89799155 [GRCh38]
Chr16:89865563 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.425G>C (p.Arg142Thr) single nucleotide variant Fanconi anemia [RCV003636308] Chr16:89810930 [GRCh38]
Chr16:89877338 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1716-6_1716-5dup duplication Fanconi anemia [RCV003637271] Chr16:89779007..89779008 [GRCh38]
Chr16:89845415..89845416 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1743C>T single nucleotide variant Fanconi anemia [RCV003637276] Chr16:89739989 [GRCh38]
Chr16:89806397 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1283T>C (p.Val428Ala) single nucleotide variant Fanconi anemia [RCV003636462] Chr16:89791479 [GRCh38]
Chr16:89857887 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.386C>G (p.Ala129Gly) single nucleotide variant Fanconi anemia [RCV003636478] Chr16:89810969 [GRCh38]
Chr16:89877377 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.788C>T (p.Pro263Leu) single nucleotide variant Fanconi anemia [RCV003636484] Chr16:89803263 [GRCh38]
Chr16:89869671 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1327C>T single nucleotide variant Fanconi anemia [RCV003636337] Chr16:89739573 [GRCh38]
Chr16:89805981 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+8A>G single nucleotide variant Fanconi anemia [RCV003636341] Chr16:89810921 [GRCh38]
Chr16:89877329 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2885_2888dup (p.Phe963fs) duplication Fanconi anemia [RCV003637132] Chr16:89758669..89758670 [GRCh38]
Chr16:89825077..89825078 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3058A>C (p.Arg1020=) single nucleotide variant Fanconi anemia [RCV003637135] Chr16:89752146 [GRCh38]
Chr16:89818554 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2664A>T (p.Val888=) single nucleotide variant Fanconi anemia [RCV003522701] Chr16:89765004 [GRCh38]
Chr16:89831412 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+1G>A single nucleotide variant Fanconi anemia [RCV003522702] Chr16:89773270 [GRCh38]
Chr16:89839678 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2053A>C (p.Arg685=) single nucleotide variant Fanconi anemia [RCV003522716] Chr16:89771776 [GRCh38]
Chr16:89838184 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+11A>G single nucleotide variant Fanconi anemia [RCV003523404] Chr16:89808283 [GRCh38]
Chr16:89874691 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3066+13_3066+75del deletion Fanconi anemia [RCV003523410] Chr16:89752063..89752125 [GRCh38]
Chr16:89818471..89818533 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3513+12G>A single nucleotide variant Fanconi anemia [RCV003523418] Chr16:89746572 [GRCh38]
Chr16:89812980 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*479G>C single nucleotide variant Fanconi anemia [RCV003523424] Chr16:89738725 [GRCh38]
Chr16:89805133 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1225+2T>G single nucleotide variant Fanconi anemia [RCV003637136] Chr16:89791925 [GRCh38]
Chr16:89858333 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.283+15C>T single nucleotide variant Fanconi anemia [RCV003637291] Chr16:89814505 [GRCh38]
Chr16:89880913 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3066+19C>G single nucleotide variant Fanconi anemia [RCV003522134] Chr16:89752119 [GRCh38]
Chr16:89818527 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2484T>C (p.Asp828=) single nucleotide variant Fanconi anemia [RCV003522694] Chr16:89769857 [GRCh38]
Chr16:89836265 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+7A>G single nucleotide variant Fanconi anemia [RCV003523890] Chr16:89773264 [GRCh38]
Chr16:89839672 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1665C>G (p.Ile555Met) single nucleotide variant Fanconi anemia [RCV003636527] Chr16:89779919 [GRCh38]
Chr16:89846327 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1715+7T>C single nucleotide variant Fanconi anemia [RCV003636539] Chr16:89779862 [GRCh38]
Chr16:89846270 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1686G>T (p.Gly562=) single nucleotide variant Fanconi anemia [RCV003636540] Chr16:89779898 [GRCh38]
Chr16:89846306 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2546G>C single nucleotide variant Fanconi anemia [RCV003636549] Chr16:89740792 [GRCh38]
Chr16:89807200 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+18C>G single nucleotide variant Fanconi anemia [RCV003636551] Chr16:89767123 [GRCh38]
Chr16:89833531 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.474C>T (p.His158=) single nucleotide variant Fanconi anemia [RCV003636818] Chr16:89810755 [GRCh38]
Chr16:89877163 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1615dup (p.Asp539fs) duplication Fanconi anemia [RCV003637148] Chr16:89782869..89782870 [GRCh38]
Chr16:89849277..89849278 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1716-2A>G single nucleotide variant Fanconi anemia [RCV003637302] Chr16:89779005 [GRCh38]
Chr16:89845413 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs) duplication Fanconi anemia [RCV003637304] Chr16:89749782..89749783 [GRCh38]
Chr16:89816190..89816191 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1209G>T (p.Ala403=) single nucleotide variant Fanconi anemia [RCV003522740] Chr16:89791943 [GRCh38]
Chr16:89858351 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs) insertion Fanconi anemia [RCV003522754] Chr16:89816580..89816581 [GRCh38]
Chr16:89882988..89882989 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2151+16C>T single nucleotide variant Fanconi anemia [RCV003523508] Chr16:89771662 [GRCh38]
Chr16:89838070 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2469C>A (p.Thr823=) single nucleotide variant Fanconi anemia [RCV003636556] Chr16:89769872 [GRCh38]
Chr16:89836280 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+17G>A single nucleotide variant Fanconi anemia [RCV003636572] Chr16:89746567 [GRCh38]
Chr16:89812975 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-14C>A single nucleotide variant Fanconi anemia [RCV003636582] Chr16:89773398 [GRCh38]
Chr16:89839806 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2001C>T (p.Pro667=) single nucleotide variant Fanconi anemia [RCV003636837] Chr16:89773284 [GRCh38]
Chr16:89839692 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3067-15A>G single nucleotide variant Fanconi anemia [RCV003636852] Chr16:89749917 [GRCh38]
Chr16:89816325 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-11T>C single nucleotide variant Fanconi anemia [RCV003636853] Chr16:89811082 [GRCh38]
Chr16:89877490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2152-19G>A single nucleotide variant Fanconi anemia [RCV003636856] Chr16:89770653 [GRCh38]
Chr16:89837061 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer) microsatellite Fanconi anemia [RCV003637153] Chr16:89739481..89739482 [GRCh38]
Chr16:89805889..89805890 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3429G>T (p.Leu1143=) single nucleotide variant Fanconi anemia [RCV003637312] Chr16:89746668 [GRCh38]
Chr16:89813076 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1285A>C (p.Thr429Pro) single nucleotide variant Fanconi anemia [RCV003637313] Chr16:89791477 [GRCh38]
Chr16:89857885 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.376A>G (p.Thr126Ala) single nucleotide variant Fanconi anemia [RCV003840497] Chr16:89810979 [GRCh38]
Chr16:89877387 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3378G>C (p.Leu1126=) single nucleotide variant Fanconi anemia [RCV003637318] Chr16:89746861 [GRCh38]
Chr16:89813269 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+17C>A single nucleotide variant Fanconi anemia [RCV003522197] Chr16:89749713 [GRCh38]
Chr16:89816121 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.45A>G (p.Pro15=) single nucleotide variant Fanconi anemia [RCV003522790] Chr16:89816571 [GRCh38]
Chr16:89882979 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1314A>C (p.Ala438=) single nucleotide variant Fanconi anemia [RCV003524017] Chr16:89791448 [GRCh38]
Chr16:89857856 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2222+11G>T single nucleotide variant Fanconi anemia [RCV003851613] Chr16:89770553 [GRCh38]
Chr16:89836961 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2514A>G (p.Thr838=) single nucleotide variant Fanconi anemia [RCV003636598] Chr16:89767228 [GRCh38]
Chr16:89833636 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-5T>C single nucleotide variant Fanconi anemia [RCV003636873] Chr16:89792552 [GRCh38]
Chr16:89858960 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2652T>G (p.Ser884=) single nucleotide variant Fanconi anemia [RCV003637168] Chr16:89765016 [GRCh38]
Chr16:89831424 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+12C>A single nucleotide variant Fanconi anemia [RCV003637319] Chr16:89814508 [GRCh38]
Chr16:89880916 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-11T>G single nucleotide variant Fanconi anemia [RCV003637321] Chr16:89799243 [GRCh38]
Chr16:89865651 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.999G>T (p.Val333=) single nucleotide variant Fanconi anemia [RCV003835561] Chr16:89795913 [GRCh38]
Chr16:89862321 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-16G>C single nucleotide variant Fanconi anemia [RCV003523542] Chr16:89745087 [GRCh38]
Chr16:89811495 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3225G>C (p.Leu1075=) single nucleotide variant Fanconi anemia [RCV003523574] Chr16:89749744 [GRCh38]
Chr16:89816152 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2223-4G>T single nucleotide variant Fanconi anemia [RCV003524042] Chr16:89770263 [GRCh38]
Chr16:89836671 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val) single nucleotide variant Fanconi anemia [RCV003524074] Chr16:89739230 [GRCh38]
Chr16:89805638 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2601+8C>A single nucleotide variant Fanconi anemia [RCV003636073] Chr16:89767133 [GRCh38]
Chr16:89833541 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.189+12C>T single nucleotide variant Fanconi anemia [RCV003636608] Chr16:89815865 [GRCh38]
Chr16:89882273 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3349-15T>C single nucleotide variant Fanconi anemia [RCV003817427] Chr16:89746905 [GRCh38]
Chr16:89813313 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-16C>T single nucleotide variant Fanconi anemia [RCV003636632] Chr16:89805408 [GRCh38]
Chr16:89871816 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1216C>T single nucleotide variant Fanconi anemia [RCV003636896] Chr16:89739462 [GRCh38]
Chr16:89805870 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*734G>C single nucleotide variant Fanconi anemia [RCV003637179] Chr16:89738980 [GRCh38]
Chr16:89805388 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+20C>T single nucleotide variant Fanconi anemia [RCV003637328] Chr16:89816517 [GRCh38]
Chr16:89882925 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3998dup (p.Ala1334fs) duplication Fanconi anemia [RCV003637336] Chr16:89739489..89739490 [GRCh38]
Chr16:89805897..89805898 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2356G>T (p.Ala786Ser) single nucleotide variant Fanconi anemia [RCV003815039] Chr16:89769985 [GRCh38]
Chr16:89836393 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2227G>A (p.Gly743Ser) single nucleotide variant Fanconi anemia [RCV003522302] Chr16:89770255 [GRCh38]
Chr16:89836663 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.679C>T (p.His227Tyr) single nucleotide variant Fanconi anemia [RCV003635873] Chr16:89805310 [GRCh38]
Chr16:89871718 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1716-13C>G single nucleotide variant Fanconi anemia [RCV003636108] Chr16:89779016 [GRCh38]
Chr16:89845424 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+14C>T single nucleotide variant Fanconi anemia [RCV003636111] Chr16:89775728 [GRCh38]
Chr16:89842136 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1840C>T (p.Pro614Ser) single nucleotide variant Fanconi anemia [RCV003636652] Chr16:89775802 [GRCh38]
Chr16:89842210 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*876C>G single nucleotide variant Fanconi anemia [RCV003636912] Chr16:89739122 [GRCh38]
Chr16:89805530 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+21_79+43del deletion Fanconi anemia [RCV003637182] Chr16:89816494..89816516 [GRCh38]
Chr16:89882902..89882924 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter) single nucleotide variant Fanconi anemia [RCV003637338] Chr16:89740808 [GRCh38]
Chr16:89807216 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.523-18T>G single nucleotide variant Fanconi anemia [RCV003635458] Chr16:89808385 [GRCh38]
Chr16:89874793 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer) indel Fanconi anemia [RCV003635462] Chr16:89748688..89748689 [GRCh38]
Chr16:89815096..89815097 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.522+19del deletion Fanconi anemia [RCV003523623] Chr16:89810688 [GRCh38]
Chr16:89877096 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+19G>A single nucleotide variant Fanconi anemia [RCV003523591] Chr16:89791384 [GRCh38]
Chr16:89857792 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1219T>A single nucleotide variant Fanconi anemia [RCV003637192] Chr16:89739465 [GRCh38]
Chr16:89805873 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1482C>A (p.Leu494=) single nucleotide variant Fanconi anemia [RCV003637197] Chr16:89783091 [GRCh38]
Chr16:89849499 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-5G>A single nucleotide variant Fanconi anemia [RCV003635533] Chr16:89799643 [GRCh38]
Chr16:89866051 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.709+14A>C single nucleotide variant Fanconi anemia [RCV003636075] Chr16:89805266 [GRCh38]
Chr16:89871674 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2853-7G>A single nucleotide variant Fanconi anemia [RCV003636197] Chr16:89758712 [GRCh38]
Chr16:89825120 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2929C>T (p.Leu977=) single nucleotide variant Fanconi anemia [RCV003636707] Chr16:89758629 [GRCh38]
Chr16:89825037 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.432G>A (p.Lys144=) single nucleotide variant Fanconi anemia [RCV003636710] Chr16:89810797 [GRCh38]
Chr16:89877205 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.523-19_523-17del deletion Fanconi anemia [RCV003637361] Chr16:89808384..89808386 [GRCh38]
Chr16:89874792..89874794 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+12C>G single nucleotide variant Fanconi anemia [RCV003637362] Chr16:89782995 [GRCh38]
Chr16:89849403 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.903G>A (p.Val301=) single nucleotide variant Fanconi anemia [RCV003855331] Chr16:89796009 [GRCh38]
Chr16:89862417 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.190-18T>C single nucleotide variant Fanconi anemia [RCV003636989] Chr16:89814631 [GRCh38]
Chr16:89881039 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-14T>C single nucleotide variant Fanconi anemia [RCV003637212] Chr16:89745085 [GRCh38]
Chr16:89811493 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*747A>C single nucleotide variant Fanconi anemia [RCV003637213] Chr16:89738993 [GRCh38]
Chr16:89805401 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.102dup (p.Tyr35fs) duplication Fanconi anemia [RCV003637375] Chr16:89815963..89815964 [GRCh38]
Chr16:89882371..89882372 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1627-4C>T single nucleotide variant Fanconi anemia [RCV003635681] Chr16:89779961 [GRCh38]
Chr16:89846369 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1212A>C single nucleotide variant Fanconi anemia [RCV003635686] Chr16:89739458 [GRCh38]
Chr16:89805866 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+20G>T single nucleotide variant Fanconi anemia [RCV003635714] Chr16:89775722 [GRCh38]
Chr16:89842130 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+20T>C single nucleotide variant Fanconi anemia [RCV003522380] Chr16:89746564 [GRCh38]
Chr16:89812972 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1945C>T (p.Pro649Ser) single nucleotide variant Fanconi anemia [RCV003522444] Chr16:89773340 [GRCh38]
Chr16:89839748 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1827-20A>G single nucleotide variant Fanconi anemia [RCV003523714] Chr16:89775835 [GRCh38]
Chr16:89842243 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1083+17T>C single nucleotide variant Fanconi anemia [RCV003636251] Chr16:89792454 [GRCh38]
Chr16:89858862 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.596+17G>A single nucleotide variant Fanconi anemia [RCV003636290] Chr16:89808277 [GRCh38]
Chr16:89874685 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.642G>A (p.Leu214=) single nucleotide variant Fanconi anemia [RCV003635786] Chr16:89805347 [GRCh38]
Chr16:89871755 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-16_3627-11dup duplication Fanconi anemia [RCV003637223] Chr16:89742948..89742949 [GRCh38]
Chr16:89809356..89809357 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3610C>A (p.Arg1204=) single nucleotide variant Fanconi anemia [RCV003637227] Chr16:89744975 [GRCh38]
Chr16:89811383 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*623dup duplication Fanconi anemia [RCV003637382] Chr16:89738868..89738869 [GRCh38]
Chr16:89805276..89805277 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1626+17C>G single nucleotide variant Fanconi anemia [RCV003637384] Chr16:89782842 [GRCh38]
Chr16:89849250 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427-19dup duplication Fanconi anemia [RCV003854640] Chr16:89810820..89810821 [GRCh38]
Chr16:89877228..89877229 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2317-12T>A single nucleotide variant Fanconi anemia [RCV003635792] Chr16:89770036 [GRCh38]
Chr16:89836444 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.298G>C (p.Asp100His) single nucleotide variant Fanconi anemia [RCV003523351] Chr16:89811057 [GRCh38]
Chr16:89877465 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4314C>T (p.Ser1438=) single nucleotide variant Fanconi anemia [RCV003636591] Chr16:89738655 [GRCh38]
Chr16:89805063 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2852+7_2852+8del microsatellite Fanconi anemia [RCV003636593] Chr16:89761941..89761942 [GRCh38]
Chr16:89828349..89828350 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2640A>T (p.Arg880=) single nucleotide variant Fanconi anemia [RCV003636845] Chr16:89765028 [GRCh38]
Chr16:89831436 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys) single nucleotide variant Fanconi anemia [RCV003636851] Chr16:89739278 [GRCh38]
Chr16:89805686 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1084-19G>C single nucleotide variant Fanconi anemia [RCV003635809] Chr16:89792087 [GRCh38]
Chr16:89858495 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2853-16G>A single nucleotide variant Fanconi anemia [RCV003635821] Chr16:89758721 [GRCh38]
Chr16:89825129 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.709+14_709+15del deletion Fanconi anemia [RCV003635832] Chr16:89805265..89805266 [GRCh38]
Chr16:89871673..89871674 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3765+20T>C single nucleotide variant Fanconi anemia [RCV003523417] Chr16:89742780 [GRCh38]
Chr16:89809188 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1559A>C (p.Asp520Ala) single nucleotide variant Fanconi anemia [RCV003636607] Chr16:89783014 [GRCh38]
Chr16:89849422 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2571C>T (p.Cys857=) single nucleotide variant Fanconi anemia [RCV003636870] Chr16:89767171 [GRCh38]
Chr16:89833579 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.189+19C>T single nucleotide variant Fanconi anemia [RCV003636982] Chr16:89815858 [GRCh38]
Chr16:89882266 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1572T>C (p.Ser524=) single nucleotide variant Fanconi anemia [RCV003522120] Chr16:89782913 [GRCh38]
Chr16:89849321 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3691C>T (p.His1231Tyr) single nucleotide variant Fanconi anemia [RCV003523470] Chr16:89742874 [GRCh38]
Chr16:89809282 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2133G>A (p.Leu711=) single nucleotide variant FANCA-related condition [RCV003946736]|Fanconi anemia [RCV003523506] Chr16:89771696 [GRCh38]
Chr16:89838104 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.874C>T (p.His292Tyr) single nucleotide variant Fanconi anemia [RCV003636882] Chr16:89799185 [GRCh38]
Chr16:89865593 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1627-17C>G single nucleotide variant Fanconi anemia [RCV003636991] Chr16:89779974 [GRCh38]
Chr16:89846382 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+8A>C single nucleotide variant Fanconi anemia [RCV003636996] Chr16:89810921 [GRCh38]
Chr16:89877329 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1470+7A>C single nucleotide variant Fanconi anemia [RCV003836791] Chr16:89784847 [GRCh38]
Chr16:89851255 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1567-11C>G single nucleotide variant Fanconi anemia [RCV003522243] Chr16:89782929 [GRCh38]
Chr16:89849337 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1456C>A (p.Pro486Thr) single nucleotide variant Fanconi anemia [RCV003523589] Chr16:89784868 [GRCh38]
Chr16:89851276 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1567-13_1567-12del microsatellite Fanconi anemia [RCV003636639] Chr16:89782930..89782931 [GRCh38]
Chr16:89849338..89849339 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3641A>T (p.Glu1214Val) single nucleotide variant Fanconi anemia [RCV003636641] Chr16:89742924 [GRCh38]
Chr16:89809332 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.369G>A (p.Gln123=) single nucleotide variant Fanconi anemia [RCV003636887] Chr16:89810986 [GRCh38]
Chr16:89877394 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+11C>T single nucleotide variant Fanconi anemia [RCV003522349] Chr16:89749719 [GRCh38]
Chr16:89816127 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+18C>T single nucleotide variant Fanconi anemia [RCV003523618] Chr16:89791385 [GRCh38]
Chr16:89857793 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1006+10G>C single nucleotide variant Fanconi anemia [RCV003636658] Chr16:89795896 [GRCh38]
Chr16:89862304 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1570T>C (p.Ser524Pro) single nucleotide variant Fanconi anemia [RCV003636915] Chr16:89782915 [GRCh38]
Chr16:89849323 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3395C>T (p.Ala1132Val) single nucleotide variant Fanconi anemia [RCV003637021] Chr16:89746844 [GRCh38]
Chr16:89813252 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4293G>A (p.Glu1431=) single nucleotide variant Fanconi anemia [RCV003635411] Chr16:89738676 [GRCh38]
Chr16:89805084 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+13C>G single nucleotide variant Fanconi anemia [RCV003636042] Chr16:89810916 [GRCh38]
Chr16:89877324 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1360-2A>G single nucleotide variant Fanconi anemia [RCV003636101] Chr16:89784966 [GRCh38]
Chr16:89851374 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1296G>C (p.Leu432=) single nucleotide variant Fanconi anemia [RCV003522434] Chr16:89791466 [GRCh38]
Chr16:89857874 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1057C>T single nucleotide variant Fanconi anemia [RCV003523655] Chr16:89739303 [GRCh38]
Chr16:89805711 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.279del (p.Phe93fs) deletion Fanconi anemia [RCV003523669] Chr16:89814524 [GRCh38]
Chr16:89880932 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.432G>C (p.Lys144Asn) single nucleotide variant Fanconi anemia [RCV003523677] Chr16:89810797 [GRCh38]
Chr16:89877205 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1875C>T (p.Cys625=) single nucleotide variant Fanconi anemia [RCV003636680] Chr16:89775767 [GRCh38]
Chr16:89842175 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer) deletion Fanconi anemia [RCV003635812] Chr16:89769887..89769888 [GRCh38]
Chr16:89836295..89836296 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.806_807del (p.Val269fs) deletion Fanconi anemia [RCV003636112] Chr16:89799624..89799625 [GRCh38]
Chr16:89866032..89866033 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1471-20G>T single nucleotide variant Fanconi anemia [RCV003636123] Chr16:89783122 [GRCh38]
Chr16:89849530 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3560G>A (p.Arg1187Lys) single nucleotide variant Fanconi anemia [RCV003522465] Chr16:89745025 [GRCh38]
Chr16:89811433 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.80-15G>A single nucleotide variant Fanconi anemia [RCV003635789] Chr16:89816001 [GRCh38]
Chr16:89882409 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2931G>T (p.Leu977=) single nucleotide variant Fanconi anemia [RCV003635823] Chr16:89758627 [GRCh38]
Chr16:89825035 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1626+18C>T single nucleotide variant Fanconi anemia [RCV003636684] Chr16:89782841 [GRCh38]
Chr16:89849249 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.826+15C>G single nucleotide variant Fanconi anemia [RCV003635901] Chr16:89799590 [GRCh38]
Chr16:89865998 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.80-13C>G single nucleotide variant Fanconi anemia [RCV003635518] Chr16:89815999 [GRCh38]
Chr16:89882407 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter) single nucleotide variant Fanconi anemia [RCV003635531] Chr16:89805344 [GRCh38]
Chr16:89871752 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2197G>A (p.Ala733Thr) single nucleotide variant Fanconi anemia [RCV003522536] Chr16:89770589 [GRCh38]
Chr16:89836997 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs) duplication Fanconi anemia [RCV003522549] Chr16:89808328..89808329 [GRCh38]
Chr16:89874736..89874737 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.522+17_522+20del deletion Fanconi anemia [RCV003522555] Chr16:89810687..89810690 [GRCh38]
Chr16:89877095..89877098 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1326C>G (p.Pro442=) single nucleotide variant Fanconi anemia [RCV003636157] Chr16:89791436 [GRCh38]
Chr16:89857844 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2169G>A (p.Leu723=) single nucleotide variant Fanconi anemia [RCV003636060] Chr16:89770617 [GRCh38]
Chr16:89837025 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1699A>G (p.Thr567Ala) single nucleotide variant Fanconi anemia [RCV003636115] Chr16:89779885 [GRCh38]
Chr16:89846293 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2222+7dup duplication Fanconi anemia [RCV003635547] Chr16:89770556..89770557 [GRCh38]
Chr16:89836964..89836965 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+12_2601+13del microsatellite Fanconi anemia [RCV003635566] Chr16:89767128..89767129 [GRCh38]
Chr16:89833536..89833537 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+8A>G single nucleotide variant Fanconi anemia [RCV003636190] Chr16:89746576 [GRCh38]
Chr16:89812984 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427A>C (p.Lys143Gln) single nucleotide variant Fanconi anemia [RCV003636200] Chr16:89810802 [GRCh38]
Chr16:89877210 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3813A>T (p.Ser1271=) single nucleotide variant Fanconi anemia [RCV003636712] Chr16:89740819 [GRCh38]
Chr16:89807227 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*478A>G single nucleotide variant Fanconi anemia [RCV003636164] Chr16:89738724 [GRCh38]
Chr16:89805132 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+20T>G single nucleotide variant Fanconi anemia [RCV003636218] Chr16:89746564 [GRCh38]
Chr16:89812972 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1101T>C (p.Ser367=) single nucleotide variant Fanconi anemia [RCV003635593] Chr16:89792051 [GRCh38]
Chr16:89858459 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-13T>C single nucleotide variant Fanconi anemia [RCV003636241] Chr16:89811084 [GRCh38]
Chr16:89877492 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1715+14C>G single nucleotide variant Fanconi anemia [RCV003856272] Chr16:89779855 [GRCh38]
Chr16:89846263 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.190-7A>G single nucleotide variant Fanconi anemia [RCV003636246] Chr16:89814620 [GRCh38]
Chr16:89881028 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter) single nucleotide variant Fanconi anemia [RCV003636247] Chr16:89791942 [GRCh38]
Chr16:89858350 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1606T>G (p.Ser536Ala) single nucleotide variant Fanconi anemia [RCV003835553] Chr16:89782879 [GRCh38]
Chr16:89849287 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4317A>G (p.Arg1439=) single nucleotide variant Fanconi anemia [RCV003814329] Chr16:89738652 [GRCh38]
Chr16:89805060 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3456C>T (p.Val1152=) single nucleotide variant FANCA-related condition [RCV003948938]|Fanconi anemia [RCV003635621] Chr16:89746641 [GRCh38]
Chr16:89813049 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.804T>C (p.Asp268=) single nucleotide variant Fanconi anemia [RCV003635627] Chr16:89799627 [GRCh38]
Chr16:89866035 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1683G>C (p.Thr561=) single nucleotide variant Fanconi anemia [RCV003636262] Chr16:89779901 [GRCh38]
Chr16:89846309 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-19T>C single nucleotide variant Fanconi anemia [RCV003522732] Chr16:89762041 [GRCh38]
Chr16:89828449 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1715+1G>A single nucleotide variant Fanconi anemia [RCV003636747] Chr16:89779868 [GRCh38]
Chr16:89846276 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3012T>A (p.Ser1004=) single nucleotide variant Fanconi anemia [RCV003635655] Chr16:89752192 [GRCh38]
Chr16:89818600 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.792+17_792+19del deletion Fanconi anemia [RCV003636300] Chr16:89803240..89803242 [GRCh38]
Chr16:89869648..89869650 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.190-14G>A single nucleotide variant Fanconi anemia [RCV003636330] Chr16:89814627 [GRCh38]
Chr16:89881035 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4264C>G (p.Leu1422Val) single nucleotide variant Fanconi anemia [RCV003636339] Chr16:89738705 [GRCh38]
Chr16:89805113 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2250G>C (p.Val750=) single nucleotide variant Fanconi anemia [RCV003522794] Chr16:89770232 [GRCh38]
Chr16:89836640 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4288C>G (p.Pro1430Ala) single nucleotide variant Fanconi anemia [RCV003636771] Chr16:89738681 [GRCh38]
Chr16:89805089 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1049G>A single nucleotide variant Fanconi anemia [RCV003636775] Chr16:89739295 [GRCh38]
Chr16:89805703 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1826+8G>A single nucleotide variant Fanconi anemia [RCV003636386] Chr16:89778793 [GRCh38]
Chr16:89845201 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.189+15G>C single nucleotide variant Fanconi anemia [RCV003635670] Chr16:89815862 [GRCh38]
Chr16:89882270 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2014+11A>T single nucleotide variant Fanconi anemia [RCV003635671] Chr16:89773260 [GRCh38]
Chr16:89839668 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2337A>G (p.Pro779=) single nucleotide variant Fanconi anemia [RCV003635684] Chr16:89770004 [GRCh38]
Chr16:89836412 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter) single nucleotide variant Fanconi anemia [RCV003522882] Chr16:89748697 [GRCh38]
Chr16:89815105 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.427-20A>C single nucleotide variant Fanconi anemia [RCV003636420] Chr16:89810822 [GRCh38]
Chr16:89877230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1624G>A (p.Glu542Lys) single nucleotide variant Fanconi anemia [RCV003636431] Chr16:89782861 [GRCh38]
Chr16:89849269 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2060T>C (p.Val687Ala) single nucleotide variant Fanconi anemia [RCV003636441] Chr16:89771769 [GRCh38]
Chr16:89838177 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1980G>T (p.Leu660=) single nucleotide variant Fanconi anemia [RCV003636777] Chr16:89773305 [GRCh38]
Chr16:89839713 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+16A>C single nucleotide variant Fanconi anemia [RCV003636781] Chr16:89769821 [GRCh38]
Chr16:89836229 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-19G>C single nucleotide variant Fanconi anemia [RCV003636555] Chr16:89811090 [GRCh38]
Chr16:89877498 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2623G>A single nucleotide variant Fanconi anemia [RCV003636557] Chr16:89740869 [GRCh38]
Chr16:89807277 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.79+14G>A single nucleotide variant Fanconi anemia [RCV003636502] Chr16:89816523 [GRCh38]
Chr16:89882931 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3742A>C (p.Lys1248Gln) single nucleotide variant Fanconi anemia [RCV003838262] Chr16:89742823 [GRCh38]
Chr16:89809231 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3786C>T (p.Phe1262=) single nucleotide variant Fanconi anemia [RCV003635691] Chr16:89740846 [GRCh38]
Chr16:89807254 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2015-20_2015-17del deletion Fanconi anemia [RCV003635704] Chr16:89771831..89771834 [GRCh38]
Chr16:89838239..89838242 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3462C>G (p.Phe1154Leu) single nucleotide variant Fanconi anemia [RCV003635705] Chr16:89746635 [GRCh38]
Chr16:89813043 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2151+7_2151+8delinsTC indel Fanconi anemia [RCV003636399] Chr16:89771670..89771671 [GRCh38]
Chr16:89838078..89838079 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3425G>C (p.Cys1142Ser) single nucleotide variant Fanconi anemia [RCV003839732] Chr16:89746672 [GRCh38]
Chr16:89813080 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.826+15C>T single nucleotide variant Fanconi anemia [RCV003522874] Chr16:89799590 [GRCh38]
Chr16:89865998 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.985dup (p.Thr329fs) duplication Fanconi anemia [RCV003522870] Chr16:89795926..89795927 [GRCh38]
Chr16:89862334..89862335 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1627-10T>C single nucleotide variant Fanconi anemia [RCV003524159] Chr16:89779967 [GRCh38]
Chr16:89846375 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3414C>T (p.Leu1138=) single nucleotide variant Fanconi anemia [RCV003636475] Chr16:89746683 [GRCh38]
Chr16:89813091 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1659G>A (p.Lys553=) single nucleotide variant Fanconi anemia [RCV003636479] Chr16:89779925 [GRCh38]
Chr16:89846333 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2982-8C>T single nucleotide variant Fanconi anemia [RCV003636482] Chr16:89752230 [GRCh38]
Chr16:89818638 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-18_1007-15del deletion Fanconi anemia [RCV003636483] Chr16:89792562..89792565 [GRCh38]
Chr16:89858970..89858973 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.84_87del (p.Arg29fs) deletion Fanconi anemia [RCV003636492] Chr16:89815979..89815982 [GRCh38]
Chr16:89882387..89882390 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001113525.2(ZNF276):c.*2541G>A single nucleotide variant Fanconi anemia [RCV003636503] Chr16:89740787 [GRCh38]
Chr16:89807195 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2443C>T (p.Pro815Ser) single nucleotide variant Fanconi anemia [RCV003636791] Chr16:89769898 [GRCh38]
Chr16:89836306 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.569T>C (p.Ile190Thr) single nucleotide variant Fanconi anemia [RCV003636797] Chr16:89808321 [GRCh38]
Chr16:89874729 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1826+17A>G single nucleotide variant Fanconi anemia [RCV003636923] Chr16:89778784 [GRCh38]
Chr16:89845192 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3239+12T>C single nucleotide variant Fanconi anemia [RCV003839762] Chr16:89749718 [GRCh38]
Chr16:89816126 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-19G>A single nucleotide variant Fanconi anemia [RCV003635731] Chr16:89811090 [GRCh38]
Chr16:89877498 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3238C>A (p.Arg1080=) single nucleotide variant Fanconi anemia [RCV003635735] Chr16:89749731 [GRCh38]
Chr16:89816139 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2505-4del deletion Fanconi anemia [RCV003524251] Chr16:89767241 [GRCh38]
Chr16:89833649 [GRCh37]
Chr16:16q24.3		 benign
NM_000135.4(FANCA):c.2908T>C (p.Ser970Pro) single nucleotide variant Fanconi anemia [RCV003636504] Chr16:89758650 [GRCh38]
Chr16:89825058 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3627-14T>A single nucleotide variant Fanconi anemia [RCV003636509] Chr16:89742952 [GRCh38]
Chr16:89809360 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.339_340del (p.Ala114fs) deletion Fanconi anemia [RCV003839810] Chr16:89811015..89811016 [GRCh38]
Chr16:89877423..89877424 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1788C>G (p.Val596=) single nucleotide variant Fanconi anemia [RCV003636528] Chr16:89778839 [GRCh38]
Chr16:89845247 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-15G>A single nucleotide variant Fanconi anemia [RCV003636809] Chr16:89783117 [GRCh38]
Chr16:89849525 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*474G>T single nucleotide variant Fanconi anemia [RCV003856349] Chr16:89738720 [GRCh38]
Chr16:89805128 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2214C>G (p.Pro738=) single nucleotide variant Fanconi anemia [RCV003636822] Chr16:89770572 [GRCh38]
Chr16:89836980 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2784T>G (p.Thr928=) single nucleotide variant Fanconi anemia [RCV003636932] Chr16:89762017 [GRCh38]
Chr16:89828425 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3957C>T (p.Leu1319=) single nucleotide variant Fanconi anemia [RCV003637040] Chr16:89739531 [GRCh38]
Chr16:89805939 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1978C>T (p.Leu660=) single nucleotide variant Fanconi anemia [RCV003637044] Chr16:89773307 [GRCh38]
Chr16:89839715 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3066+19C>T single nucleotide variant Fanconi anemia [RCV003635770] Chr16:89752119 [GRCh38]
Chr16:89818527 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2602-17G>C single nucleotide variant Fanconi anemia [RCV003524382] Chr16:89765083 [GRCh38]
Chr16:89831491 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2809C>G (p.Leu937Val) single nucleotide variant Fanconi anemia [RCV003636545] Chr16:89761992 [GRCh38]
Chr16:89828400 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1161G>C (p.Gln387His) single nucleotide variant Fanconi anemia [RCV003636550] Chr16:89791991 [GRCh38]
Chr16:89858399 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1764C>T (p.Leu588=) single nucleotide variant Fanconi anemia [RCV003636938] Chr16:89778955 [GRCh38]
Chr16:89845363 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.189+14G>A single nucleotide variant Fanconi anemia [RCV003636943] Chr16:89815863 [GRCh38]
Chr16:89882271 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3348+19C>G single nucleotide variant Fanconi anemia [RCV003636946] Chr16:89748640 [GRCh38]
Chr16:89815048 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1789C>T (p.Pro597Ser) single nucleotide variant Fanconi anemia [RCV003637057] Chr16:89778838 [GRCh38]
Chr16:89845246 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3123C>T (p.Thr1041=) single nucleotide variant Fanconi anemia [RCV003635519] Chr16:89749846 [GRCh38]
Chr16:89816254 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.793-2A>G single nucleotide variant Fanconi anemia [RCV003635530] Chr16:89799640 [GRCh38]
Chr16:89866048 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.18C>A (p.Val6=) single nucleotide variant Fanconi anemia [RCV003635616] Chr16:89816598 [GRCh38]
Chr16:89883006 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-13C>T single nucleotide variant Fanconi anemia [RCV003522436] Chr16:89742951 [GRCh38]
Chr16:89809359 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.182T>G (p.Leu61Trp) single nucleotide variant Fanconi anemia [RCV003522437] Chr16:89815884 [GRCh38]
Chr16:89882292 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2601+15T>A single nucleotide variant Fanconi anemia [RCV003523682] Chr16:89767126 [GRCh38]
Chr16:89833534 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3409-7C>T single nucleotide variant Fanconi anemia [RCV003523700] Chr16:89746695 [GRCh38]
Chr16:89813103 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2727T>C (p.Ser909=) single nucleotide variant Fanconi anemia [RCV003523706] Chr16:89764941 [GRCh38]
Chr16:89831349 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+1G>C single nucleotide variant Fanconi anemia [RCV003837647] Chr16:89746583 [GRCh38]
Chr16:89812991 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.2877C>G (p.Ile959Met) single nucleotide variant Fanconi anemia [RCV003635553] Chr16:89758681 [GRCh38]
Chr16:89825089 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1006+11TG[3] microsatellite Fanconi anemia [RCV003635562] Chr16:89795891..89795892 [GRCh38]
Chr16:89862299..89862300 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2131C>T (p.Leu711=) single nucleotide variant Fanconi anemia [RCV003635729] Chr16:89771698 [GRCh38]
Chr16:89838106 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3726C>T (p.Ile1242=) single nucleotide variant Fanconi anemia [RCV003635737] Chr16:89742839 [GRCh38]
Chr16:89809247 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.710-1G>A single nucleotide variant Fanconi anemia [RCV003635753] Chr16:89803342 [GRCh38]
Chr16:89869750 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3066+17C>T single nucleotide variant Fanconi anemia [RCV003524186] Chr16:89752121 [GRCh38]
Chr16:89818529 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1567-15G>A single nucleotide variant Fanconi anemia [RCV003522503] Chr16:89782933 [GRCh38]
Chr16:89849341 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.709+11G>A single nucleotide variant Fanconi anemia [RCV003635663] Chr16:89805269 [GRCh38]
Chr16:89871677 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+10A>C single nucleotide variant Fanconi anemia [RCV003524281] Chr16:89814510 [GRCh38]
Chr16:89880918 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+11A>G single nucleotide variant Fanconi anemia [RCV003524302] Chr16:89810918 [GRCh38]
Chr16:89877326 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2019A>G (p.Ile673Met) single nucleotide variant Fanconi anemia [RCV003524318] Chr16:89771810 [GRCh38]
Chr16:89838218 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2504+11_2504+12insCA insertion Fanconi anemia [RCV003522535] Chr16:89769825..89769826 [GRCh38]
Chr16:89836233..89836234 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1007-7C>T single nucleotide variant Fanconi anemia [RCV003836828] Chr16:89792554 [GRCh38]
Chr16:89858962 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3202A>G (p.Ser1068Gly) single nucleotide variant Fanconi anemia [RCV003522627] Chr16:89749767 [GRCh38]
Chr16:89816175 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.255C>G (p.Ala85=) single nucleotide variant Fanconi anemia [RCV003814632] Chr16:89814548 [GRCh38]
Chr16:89880956 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.972del (p.Thr325fs) deletion Fanconi anemia [RCV003523948] Chr16:89795940 [GRCh38]
Chr16:89862348 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1597G>T (p.Asp533Tyr) single nucleotide variant Fanconi anemia [RCV003523423] Chr16:89782888 [GRCh38]
Chr16:89849296 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3318G>A (p.Glu1106=) single nucleotide variant Fanconi anemia [RCV003522750] Chr16:89748689 [GRCh38]
Chr16:89815097 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2830G>T (p.Asp944Tyr) single nucleotide variant Fanconi anemia [RCV003635574] Chr16:89761971 [GRCh38]
Chr16:89828379 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2853-11T>C single nucleotide variant Fanconi anemia [RCV003522823] Chr16:89758716 [GRCh38]
Chr16:89825124 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1278C>T (p.Ser426=) single nucleotide variant Fanconi anemia [RCV003838258] Chr16:89791484 [GRCh38]
Chr16:89857892 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3834C>T (p.Thr1278=) single nucleotide variant Fanconi anemia [RCV003635637] Chr16:89740094 [GRCh38]
Chr16:89806502 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3331T>G (p.Leu1111Val) single nucleotide variant Fanconi anemia [RCV003635730] Chr16:89748676 [GRCh38]
Chr16:89815084 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2779-20T>G single nucleotide variant Fanconi anemia [RCV003522331] Chr16:89762042 [GRCh38]
Chr16:89828450 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.770_771del (p.Val257fs) microsatellite Fanconi anemia [RCV003523634] Chr16:89803280..89803281 [GRCh38]
Chr16:89869688..89869689 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3126T>A (p.Pro1042=) single nucleotide variant Fanconi anemia [RCV003522867] Chr16:89749843 [GRCh38]
Chr16:89816251 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.259G>C (p.Ala87Pro) single nucleotide variant Fanconi anemia [RCV003635766] Chr16:89814544 [GRCh38]
Chr16:89880952 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2504+17C>T single nucleotide variant Fanconi anemia [RCV003635773] Chr16:89769820 [GRCh38]
Chr16:89836228 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1051T>G single nucleotide variant Fanconi anemia [RCV003635777] Chr16:89739297 [GRCh38]
Chr16:89805705 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.570T>C (p.Ile190=) single nucleotide variant Fanconi anemia [RCV003522507] Chr16:89808320 [GRCh38]
Chr16:89874728 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1704C>T (p.Val568=) single nucleotide variant Fanconi anemia [RCV003523814] Chr16:89779880 [GRCh38]
Chr16:89846288 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.284-940_339del deletion Fanconi anemia [RCV003523271] Chr16:89811016..89812011 [GRCh38]
Chr16:89877424..89878419 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.1470+13C>G single nucleotide variant Fanconi anemia [RCV003524343] Chr16:89784841 [GRCh38]
Chr16:89851249 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-12A>C single nucleotide variant Fanconi anemia [RCV003854952] Chr16:89783114 [GRCh38]
Chr16:89849522 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs) deletion Fanconi anemia [RCV003635432] Chr16:89739280 [GRCh38]
Chr16:89805688 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1300G>A (p.Val434Met) single nucleotide variant Fanconi anemia [RCV003635440] Chr16:89791462 [GRCh38]
Chr16:89857870 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2749C>A (p.Arg917=) single nucleotide variant Fanconi anemia [RCV003635447] Chr16:89764919 [GRCh38]
Chr16:89831327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1006+6C>A single nucleotide variant Fanconi anemia [RCV003522581] Chr16:89795900 [GRCh38]
Chr16:89862308 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1746C>T (p.His582=) single nucleotide variant Fanconi anemia [RCV003523379] Chr16:89778973 [GRCh38]
Chr16:89845381 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.139G>C (p.Ala47Pro) single nucleotide variant Fanconi anemia [RCV003524462] Chr16:89815927 [GRCh38]
Chr16:89882335 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3514-11T>G single nucleotide variant Fanconi anemia [RCV003635448] Chr16:89745082 [GRCh38]
Chr16:89811490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4144A>C (p.Arg1382=) single nucleotide variant Fanconi anemia [RCV003635455] Chr16:89739156 [GRCh38]
Chr16:89805564 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2426G>T (p.Gly809Val) single nucleotide variant Fanconi anemia [RCV003635466] Chr16:89769915 [GRCh38]
Chr16:89836323 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2416C>T (p.Pro806Ser) single nucleotide variant Fanconi anemia [RCV003523419] Chr16:89769925 [GRCh38]
Chr16:89836333 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1566+20C>G single nucleotide variant Fanconi anemia [RCV003523457] Chr16:89782987 [GRCh38]
Chr16:89849395 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+16A>T single nucleotide variant Fanconi anemia [RCV003524495] Chr16:89816521 [GRCh38]
Chr16:89882929 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1634G>C (p.Ser545Thr) single nucleotide variant Fanconi anemia [RCV003837242] Chr16:89779950 [GRCh38]
Chr16:89846358 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3514-11T>C single nucleotide variant Fanconi anemia [RCV003815973] Chr16:89745082 [GRCh38]
Chr16:89811490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*480G>A single nucleotide variant Fanconi anemia [RCV003815978] Chr16:89738726 [GRCh38]
Chr16:89805134 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2542G>T single nucleotide variant Fanconi anemia [RCV003635474] Chr16:89740788 [GRCh38]
Chr16:89807196 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.901G>C (p.Val301Leu) single nucleotide variant Fanconi anemia [RCV003635680] Chr16:89796011 [GRCh38]
Chr16:89862419 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1007-20G>A single nucleotide variant Fanconi anemia [RCV003635694] Chr16:89792567 [GRCh38]
Chr16:89858975 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2981+8G>A single nucleotide variant Fanconi anemia [RCV003523536] Chr16:89758569 [GRCh38]
Chr16:89824977 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2647C>G (p.Leu883Val) single nucleotide variant Fanconi anemia [RCV003834152] Chr16:89765021 [GRCh38]
Chr16:89831429 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3066+12G>A single nucleotide variant Fanconi anemia [RCV003522791] Chr16:89752126 [GRCh38]
Chr16:89818534 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.916dup (p.Thr306fs) duplication Fanconi anemia [RCV003522797] Chr16:89795995..89795996 [GRCh38]
Chr16:89862403..89862404 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile) single nucleotide variant Fanconi anemia [RCV003523571] Chr16:89758698 [GRCh38]
Chr16:89825106 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3348+2T>G single nucleotide variant Fanconi anemia [RCV003635501] Chr16:89748657 [GRCh38]
Chr16:89815065 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs) deletion Fanconi anemia [RCV003635710] Chr16:89770601..89770602 [GRCh38]
Chr16:89837009..89837010 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3408+7T>C single nucleotide variant Fanconi anemia [RCV003522303] Chr16:89746824 [GRCh38]
Chr16:89813232 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1059_*1060del deletion Fanconi anemia [RCV003637513] Chr16:89739304..89739305 [GRCh38]
Chr16:89805712..89805713 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1216C>T (p.Leu406=) single nucleotide variant Fanconi anemia [RCV003637517] Chr16:89791936 [GRCh38]
Chr16:89858344 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+5G>T single nucleotide variant Fanconi anemia [RCV003637804] Chr16:89767136 [GRCh38]
Chr16:89833544 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2779-18G>C single nucleotide variant Fanconi anemia [RCV003859830] Chr16:89762040 [GRCh38]
Chr16:89828448 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.283+15C>A single nucleotide variant Fanconi anemia [RCV003845532] Chr16:89814505 [GRCh38]
Chr16:89880913 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*2636T>A single nucleotide variant Fanconi anemia [RCV003637899] Chr16:89740882 [GRCh38]
Chr16:89807290 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.715G>A (p.Val239Ile) single nucleotide variant Fanconi anemia [RCV003637940] Chr16:89803336 [GRCh38]
Chr16:89869744 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.894-16T>A single nucleotide variant Fanconi anemia [RCV003857812] Chr16:89796034 [GRCh38]
Chr16:89862442 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*741C>G single nucleotide variant Fanconi anemia [RCV003862659] Chr16:89738987 [GRCh38]
Chr16:89805395 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.534G>A (p.Leu178=) single nucleotide variant Fanconi anemia [RCV003637675] Chr16:89808356 [GRCh38]
Chr16:89874764 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*870C>T single nucleotide variant Fanconi anemia [RCV003637976] Chr16:89739116 [GRCh38]
Chr16:89805524 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4279dup (p.Asp1427fs) duplication Fanconi anemia [RCV003638016] Chr16:89738689..89738690 [GRCh38]
Chr16:89805097..89805098 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.793-16_793-15del microsatellite Fanconi anemia [RCV003862756] Chr16:89799653..89799654 [GRCh38]
Chr16:89866061..89866062 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.495C>A (p.Ser165=) single nucleotide variant Fanconi anemia [RCV003637776] Chr16:89810734 [GRCh38]
Chr16:89877142 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1626+20G>A single nucleotide variant Fanconi anemia [RCV003863118] Chr16:89782839 [GRCh38]
Chr16:89849247 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-16_2779-15delinsCG indel Fanconi anemia [RCV003842423] Chr16:89762037..89762038 [GRCh38]
Chr16:89828445..89828446 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3428T>C (p.Leu1143Pro) single nucleotide variant Fanconi anemia [RCV003637493] Chr16:89746669 [GRCh38]
Chr16:89813077 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2981+9C>T single nucleotide variant Fanconi anemia [RCV003637922] Chr16:89758568 [GRCh38]
Chr16:89824976 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.792+19T>C single nucleotide variant Fanconi anemia [RCV003857331] Chr16:89803240 [GRCh38]
Chr16:89869648 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1826+9C>T single nucleotide variant Fanconi anemia [RCV003637516] Chr16:89778792 [GRCh38]
Chr16:89845200 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2307C>T (p.Leu769=) single nucleotide variant Fanconi anemia [RCV003840642] Chr16:89770175 [GRCh38]
Chr16:89836583 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-13G>C single nucleotide variant Fanconi anemia [RCV003637560] Chr16:89745084 [GRCh38]
Chr16:89811492 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-14G>A single nucleotide variant Fanconi anemia [RCV003637570] Chr16:89805406 [GRCh38]
Chr16:89871814 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1084-9T>C single nucleotide variant Fanconi anemia [RCV003637574] Chr16:89792077 [GRCh38]
Chr16:89858485 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1777-13dup duplication Fanconi anemia [RCV003638050] Chr16:89778862..89778863 [GRCh38]
Chr16:89845270..89845271 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3996T>A (p.Pro1332=) single nucleotide variant Fanconi anemia [RCV003638052] Chr16:89739492 [GRCh38]
Chr16:89805900 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.660G>A (p.Gln220=) single nucleotide variant Fanconi anemia [RCV003845626] Chr16:89805329 [GRCh38]
Chr16:89871737 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1066A>T (p.Thr356Ser) single nucleotide variant Fanconi anemia [RCV003637628] Chr16:89792488 [GRCh38]
Chr16:89858896 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4068T>C (p.Val1356=) single nucleotide variant Fanconi anemia [RCV003637654] Chr16:89739232 [GRCh38]
Chr16:89805640 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+15C>T single nucleotide variant Fanconi anemia [RCV003853731] Chr16:89816522 [GRCh38]
Chr16:89882930 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.44C>T (p.Pro15Leu) single nucleotide variant Fanconi anemia [RCV003842716] Chr16:89816572 [GRCh38]
Chr16:89882980 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2152-16A>T single nucleotide variant Fanconi anemia [RCV003637765] Chr16:89770650 [GRCh38]
Chr16:89837058 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1504A>G (p.Lys502Glu) single nucleotide variant Fanconi anemia [RCV003862390] Chr16:89783069 [GRCh38]
Chr16:89849477 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs) duplication Fanconi anemia [RCV003637784] Chr16:89758617..89758618 [GRCh38]
Chr16:89825025..89825026 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.843G>A (p.Leu281=) single nucleotide variant Fanconi anemia [RCV003637790] Chr16:89799216 [GRCh38]
Chr16:89865624 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2779-8T>C single nucleotide variant Fanconi anemia [RCV003637878] Chr16:89762030 [GRCh38]
Chr16:89828438 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.213A>C (p.Lys71Asn) single nucleotide variant Fanconi anemia [RCV003637900] Chr16:89814590 [GRCh38]
Chr16:89880998 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.80-10C>G single nucleotide variant Fanconi anemia [RCV003853028] Chr16:89815996 [GRCh38]
Chr16:89882404 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3211A>C (p.Arg1071=) single nucleotide variant Fanconi anemia [RCV003637474] Chr16:89749758 [GRCh38]
Chr16:89816166 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+8C>G single nucleotide variant Fanconi anemia [RCV003637486] Chr16:89775734 [GRCh38]
Chr16:89842142 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-14dup duplication Fanconi anemia [RCV003637921] Chr16:89742951..89742952 [GRCh38]
Chr16:89809359..89809360 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+17G>A single nucleotide variant Fanconi anemia [RCV003637943] Chr16:89810912 [GRCh38]
Chr16:89877320 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1359+12G>A single nucleotide variant Fanconi anemia [RCV003637944] Chr16:89791391 [GRCh38]
Chr16:89857799 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3766-1G>A single nucleotide variant Fanconi anemia [RCV003846852] Chr16:89740867 [GRCh38]
Chr16:89807275 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.203T>G (p.Leu68Arg) single nucleotide variant Fanconi anemia [RCV003637571] Chr16:89814600 [GRCh38]
Chr16:89881008 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3409-11C>T single nucleotide variant Fanconi anemia [RCV003637583] Chr16:89746699 [GRCh38]
Chr16:89813107 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter) single nucleotide variant Fanconi anemia [RCV003822260] Chr16:89792516 [GRCh38]
Chr16:89858924 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1716-9G>T single nucleotide variant Fanconi anemia [RCV003862099] Chr16:89779012 [GRCh38]
Chr16:89845420 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2466G>A (p.Leu822=) single nucleotide variant Fanconi anemia [RCV003866055] Chr16:89769875 [GRCh38]
Chr16:89836283 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1221G>T single nucleotide variant Fanconi anemia [RCV003637664] Chr16:89739467 [GRCh38]
Chr16:89805875 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2317-13A>G single nucleotide variant Fanconi anemia [RCV003866191] Chr16:89770037 [GRCh38]
Chr16:89836445 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3036A>C (p.Thr1012=) single nucleotide variant Fanconi anemia [RCV003860955] Chr16:89752168 [GRCh38]
Chr16:89818576 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*879dup duplication Fanconi anemia [RCV003637710] Chr16:89739124..89739125 [GRCh38]
Chr16:89805532..89805533 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.709+19G>A single nucleotide variant Fanconi anemia [RCV003844655] Chr16:89805261 [GRCh38]
Chr16:89871669 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2447C>A (p.Ala816Glu) single nucleotide variant Fanconi anemia [RCV003822237] Chr16:89769894 [GRCh38]
Chr16:89836302 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4311G>A (p.Gln1437=) single nucleotide variant Fanconi anemia [RCV003870552] Chr16:89738658 [GRCh38]
Chr16:89805066 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*629A>C single nucleotide variant Fanconi anemia [RCV003637443] Chr16:89738875 [GRCh38]
Chr16:89805283 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2504+11C>T single nucleotide variant Fanconi anemia [RCV003637445] Chr16:89769826 [GRCh38]
Chr16:89836234 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2601+12C>G single nucleotide variant Fanconi anemia [RCV003637471] Chr16:89767129 [GRCh38]
Chr16:89833537 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2752G>C (p.Glu918Gln) single nucleotide variant Fanconi anemia [RCV003843340] Chr16:89764916 [GRCh38]
Chr16:89831324 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1901-13C>G single nucleotide variant Fanconi anemia [RCV003869608] Chr16:89773397 [GRCh38]
Chr16:89839805 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.522+17A>C single nucleotide variant Fanconi anemia [RCV003637626] Chr16:89810690 [GRCh38]
Chr16:89877098 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+1G>T single nucleotide variant Fanconi anemia [RCV003859725] Chr16:89783006 [GRCh38]
Chr16:89849414 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.774G>A (p.Glu258=) single nucleotide variant Fanconi anemia [RCV003637704] Chr16:89803277 [GRCh38]
Chr16:89869685 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3792C>G (p.Ser1264=) single nucleotide variant Fanconi anemia [RCV003637735] Chr16:89740840 [GRCh38]
Chr16:89807248 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1827-12C>G single nucleotide variant Fanconi anemia [RCV003637708] Chr16:89775827 [GRCh38]
Chr16:89842235 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2981+14A>G single nucleotide variant Fanconi anemia [RCV003869434] Chr16:89758563 [GRCh38]
Chr16:89824971 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu) single nucleotide variant Fanconi anemia [RCV003871282] Chr16:89765029 [GRCh38]
Chr16:89831437 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2223-133T>G single nucleotide variant FANCA-related condition [RCV003956645] Chr16:89770392 [GRCh38]
Chr16:89836800 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.709+12A>G single nucleotide variant Fanconi anemia [RCV003637820] Chr16:89805268 [GRCh38]
Chr16:89871676 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1179G>C (p.Val393=) single nucleotide variant Fanconi anemia [RCV003867882] Chr16:89791973 [GRCh38]
Chr16:89858381 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-15A>T single nucleotide variant Fanconi anemia [RCV003871370] Chr16:89767252 [GRCh38]
Chr16:89833660 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2050C>A (p.Leu684Met) single nucleotide variant Fanconi anemia [RCV003637952] Chr16:89771779 [GRCh38]
Chr16:89838187 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2343G>T (p.Val781=) single nucleotide variant Fanconi anemia [RCV003854002] Chr16:89769998 [GRCh38]
Chr16:89836406 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.427-17G>A single nucleotide variant Fanconi anemia [RCV003818629] Chr16:89810819 [GRCh38]
Chr16:89877227 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.42C>T (p.Asp14=) single nucleotide variant Fanconi anemia [RCV003871854] Chr16:89816574 [GRCh38]
Chr16:89882982 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1642C>G (p.Leu548Val) single nucleotide variant Fanconi anemia [RCV003866762] Chr16:89779942 [GRCh38]
Chr16:89846350 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.659A>G (p.Gln220Arg) single nucleotide variant Fanconi anemia [RCV003872134] Chr16:89805330 [GRCh38]
Chr16:89871738 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1425G>C (p.Thr475=) single nucleotide variant Fanconi anemia [RCV003848573] Chr16:89784899 [GRCh38]
Chr16:89851307 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-7C>T single nucleotide variant Fanconi anemia [RCV003869100] Chr16:89773391 [GRCh38]
Chr16:89839799 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.588G>C (p.Leu196=) single nucleotide variant Fanconi anemia [RCV003872327] Chr16:89808302 [GRCh38]
Chr16:89874710 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.3(chr16:89869380-89896259)x1 copy number loss not specified [RCV003987191] Chr16:89869380..89896259 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1286C>G (p.Thr429Ser) single nucleotide variant Fanconi anemia [RCV003864741] Chr16:89791476 [GRCh38]
Chr16:89857884 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3408+9C>A single nucleotide variant Fanconi anemia [RCV003819113] Chr16:89746822 [GRCh38]
Chr16:89813230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs) deletion Fanconi anemia [RCV003842994] Chr16:89758663..89758664 [GRCh38]
Chr16:89825071..89825072 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.826+17G>T single nucleotide variant Fanconi anemia [RCV003870992] Chr16:89799588 [GRCh38]
Chr16:89865996 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3513+14C>T single nucleotide variant Fanconi anemia [RCV003637484] Chr16:89746570 [GRCh38]
Chr16:89812978 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1226-18G>C single nucleotide variant Fanconi anemia [RCV003856898] Chr16:89791554 [GRCh38]
Chr16:89857962 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1826+11A>G single nucleotide variant Fanconi anemia [RCV003865391] Chr16:89778790 [GRCh38]
Chr16:89845198 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2000C>G (p.Pro667Arg) single nucleotide variant Fanconi anemia [RCV003857059] Chr16:89773285 [GRCh38]
Chr16:89839693 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3349-7T>C single nucleotide variant Fanconi anemia [RCV003637630] Chr16:89746897 [GRCh38]
Chr16:89813305 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-1G>A single nucleotide variant Fanconi anemia [RCV003637641] Chr16:89799233 [GRCh38]
Chr16:89865641 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_000135.4(FANCA):c.3540_3545del (p.Leu1181_Leu1182del) deletion Fanconi anemia [RCV003637645] Chr16:89745040..89745045 [GRCh38]
Chr16:89811448..89811453 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3408+18C>T single nucleotide variant Fanconi anemia [RCV003820806] Chr16:89746813 [GRCh38]
Chr16:89813221 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3201C>A (p.Ala1067=) single nucleotide variant Fanconi anemia [RCV003637656] Chr16:89749768 [GRCh38]
Chr16:89816176 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1186C>G (p.Leu396Val) single nucleotide variant Fanconi anemia [RCV003861449] Chr16:89791966 [GRCh38]
Chr16:89858374 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2043T>C (p.Ser681=) single nucleotide variant Fanconi anemia [RCV003869635] Chr16:89771786 [GRCh38]
Chr16:89838194 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3408+7T>A single nucleotide variant Fanconi anemia [RCV003843637] Chr16:89746824 [GRCh38]
Chr16:89813232 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3664C>G (p.Pro1222Ala) single nucleotide variant Fanconi anemia [RCV003867618] Chr16:89742901 [GRCh38]
Chr16:89809309 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1627-16C>G single nucleotide variant Fanconi anemia [RCV003638012] Chr16:89779973 [GRCh38]
Chr16:89846381 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3408+19C>T single nucleotide variant Fanconi anemia [RCV003867731] Chr16:89746812 [GRCh38]
Chr16:89813220 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1804G>T (p.Ala602Ser) single nucleotide variant Fanconi anemia [RCV003638067] Chr16:89778823 [GRCh38]
Chr16:89845231 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.4045A>C (p.Arg1349=) single nucleotide variant Fanconi anemia [RCV003638076] Chr16:89739255 [GRCh38]
Chr16:89805663 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.3(chr16:89763758-89896259)x1 copy number loss not specified [RCV003987188] Chr16:89763758..89896259 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3807G>A (p.Leu1269=) single nucleotide variant Fanconi anemia [RCV003638036] Chr16:89740825 [GRCh38]
Chr16:89807233 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.927T>G (p.Ser309Arg) single nucleotide variant Fanconi anemia [RCV003869085] Chr16:89795985 [GRCh38]
Chr16:89862393 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1698C>T (p.Val566=) single nucleotide variant Fanconi anemia [RCV003842772] Chr16:89779886 [GRCh38]
Chr16:89846294 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.961A>G (p.Ser321Gly) single nucleotide variant Fanconi anemia [RCV003864647] Chr16:89795951 [GRCh38]
Chr16:89862359 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter) single nucleotide variant Fanconi anemia [RCV003861759] Chr16:89742850 [GRCh38]
Chr16:89809258 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3419A>G (p.Asn1140Ser) single nucleotide variant Fanconi anemia [RCV003637451] Chr16:89746678 [GRCh38]
Chr16:89813086 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2981+11C>T single nucleotide variant Fanconi anemia [RCV003637454] Chr16:89758566 [GRCh38]
Chr16:89824974 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.189+17G>T single nucleotide variant Fanconi anemia [RCV003637470] Chr16:89815860 [GRCh38]
Chr16:89882268 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2540A>C (p.Lys847Thr) single nucleotide variant Fanconi anemia [RCV003637503] Chr16:89767202 [GRCh38]
Chr16:89833610 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2202C>T (p.Ser734=) single nucleotide variant Fanconi anemia [RCV003637420] Chr16:89770584 [GRCh38]
Chr16:89836992 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2853-14G>A single nucleotide variant Fanconi anemia [RCV003637463] Chr16:89758719 [GRCh38]
Chr16:89825127 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-11C>G single nucleotide variant Fanconi anemia [RCV003637475] Chr16:89779014 [GRCh38]
Chr16:89845422 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*1221G>A single nucleotide variant Fanconi anemia [RCV003841921] Chr16:89739467 [GRCh38]
Chr16:89805875 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2628C>G (p.Phe876Leu) single nucleotide variant Fanconi anemia [RCV003637551] Chr16:89765040 [GRCh38]
Chr16:89831448 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.2602-4T>C single nucleotide variant Fanconi anemia [RCV003847868] Chr16:89765070 [GRCh38]
Chr16:89831478 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3514-15G>A single nucleotide variant Fanconi anemia [RCV003637526] Chr16:89745086 [GRCh38]
Chr16:89811494 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.4245C>T (p.Phe1415=) single nucleotide variant Fanconi anemia [RCV003637556] Chr16:89738897 [GRCh38]
Chr16:89805305 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3327C>T (p.Phe1109=) single nucleotide variant Fanconi anemia [RCV003853644] Chr16:89748680 [GRCh38]
Chr16:89815088 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter) single nucleotide variant Fanconi anemia [RCV003637569] Chr16:89748692 [GRCh38]
Chr16:89815100 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3116del (p.Gly1039fs) deletion Fanconi anemia [RCV003637732] Chr16:89749853 [GRCh38]
Chr16:89816261 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.1000C>G (p.Leu334Val) single nucleotide variant Fanconi anemia [RCV003845036] Chr16:89795912 [GRCh38]
Chr16:89862320 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3258T>C (p.Pro1086=) single nucleotide variant Fanconi anemia [RCV003637705] Chr16:89748749 [GRCh38]
Chr16:89815157 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.993C>T (p.Ser331=) single nucleotide variant Fanconi anemia [RCV003637733] Chr16:89795919 [GRCh38]
Chr16:89862327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.597-2A>T single nucleotide variant Fanconi anemia [RCV003637736] Chr16:89805394 [GRCh38]
Chr16:89871802 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.24C>A (p.Asn8Lys) single nucleotide variant Fanconi anemia [RCV003637712] Chr16:89816592 [GRCh38]
Chr16:89883000 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1950G>T (p.Leu650=) single nucleotide variant Fanconi anemia [RCV003819501] Chr16:89773335 [GRCh38]
Chr16:89839743 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1900+12G>A single nucleotide variant Fanconi anemia [RCV003637707] Chr16:89775730 [GRCh38]
Chr16:89842138 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3401dup (p.Phe1135fs) duplication Fanconi anemia [RCV003858534] Chr16:89746837..89746838 [GRCh38]
Chr16:89813245..89813246 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.3828T>C (p.Asn1276=) single nucleotide variant Fanconi anemia [RCV003858538] Chr16:89740804 [GRCh38]
Chr16:89807212 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3349-18C>T single nucleotide variant Fanconi anemia [RCV003637983] Chr16:89746908 [GRCh38]
Chr16:89813316 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2317-20C>T single nucleotide variant Fanconi anemia [RCV003637838] Chr16:89770044 [GRCh38]
Chr16:89836452 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1443G>A (p.Val481=) single nucleotide variant Fanconi anemia [RCV003637973] Chr16:89784881 [GRCh38]
Chr16:89851289 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.79+13G>C single nucleotide variant Fanconi anemia [RCV003637916] Chr16:89816524 [GRCh38]
Chr16:89882932 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2505-4T>C single nucleotide variant Fanconi anemia [RCV003637925] Chr16:89767241 [GRCh38]
Chr16:89833649 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1465C>T (p.Leu489=) single nucleotide variant Fanconi anemia [RCV003819922] Chr16:89784859 [GRCh38]
Chr16:89851267 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1491C>G (p.Pro497=) single nucleotide variant Fanconi anemia [RCV003637990] Chr16:89783082 [GRCh38]
Chr16:89849490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.2430T>A (p.Ala810=) single nucleotide variant Fanconi anemia [RCV003818670] Chr16:89769911 [GRCh38]
Chr16:89836319 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1716-18T>C single nucleotide variant Fanconi anemia [RCV003638020] Chr16:89779021 [GRCh38]
Chr16:89845429 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1953del (p.Gln652fs) deletion Fanconi anemia [RCV003638040] Chr16:89773332 [GRCh38]
Chr16:89839740 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000135.4(FANCA):c.792+13G>A single nucleotide variant Fanconi anemia [RCV003638041] Chr16:89803246 [GRCh38]
Chr16:89869654 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3627-11C>G single nucleotide variant Fanconi anemia [RCV003820023] Chr16:89742949 [GRCh38]
Chr16:89809357 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3492C>G (p.Pro1164=) single nucleotide variant Fanconi anemia [RCV003638107] Chr16:89746605 [GRCh38]
Chr16:89813013 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.167A>C (p.Asp56Ala) single nucleotide variant Fanconi anemia [RCV003638066] Chr16:89815899 [GRCh38]
Chr16:89882307 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3514-8C>G single nucleotide variant Fanconi anemia [RCV003637822] Chr16:89745079 [GRCh38]
Chr16:89811487 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.735G>C (p.Arg245Ser) single nucleotide variant Fanconi anemia [RCV003638010] Chr16:89803316 [GRCh38]
Chr16:89869724 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001113525.2(ZNF276):c.*1735G>T single nucleotide variant Fanconi anemia [RCV003857532] Chr16:89739981 [GRCh38]
Chr16:89806389 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1566+15C>T single nucleotide variant Fanconi anemia [RCV003638035] Chr16:89782992 [GRCh38]
Chr16:89849400 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.827-11T>C single nucleotide variant Fanconi anemia [RCV003842519] Chr16:89799243 [GRCh38]
Chr16:89865651 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+10C>T single nucleotide variant FANCA-related condition [RCV003893851] Chr16:89810919 [GRCh38]
Chr16:89877327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.426+9C>T single nucleotide variant FANCA-related condition [RCV003901383] Chr16:89810920 [GRCh38]
Chr16:89877328 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001113525.2(ZNF276):c.*485C>T single nucleotide variant FANCA-related condition [RCV003899070] Chr16:89738731 [GRCh38]
Chr16:89805139 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+83C>A single nucleotide variant FANCA-related condition [RCV003956718] Chr16:89799083 [GRCh38]
Chr16:89865491 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3357C>G (p.Phe1119Leu) single nucleotide variant FANCA-related condition [RCV003894304] Chr16:89746882 [GRCh38]
Chr16:89813290 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1036T>C (p.Trp346Arg) single nucleotide variant FANCA-related condition [RCV003902066] Chr16:89792518 [GRCh38]
Chr16:89858926 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.3165G>A (p.Arg1055=) single nucleotide variant FANCA-related condition [RCV003904606] Chr16:89749804 [GRCh38]
Chr16:89816212 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1471-21C>T single nucleotide variant FANCA-related condition [RCV003969152] Chr16:89783123 [GRCh38]
Chr16:89849531 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.1901-8T>A single nucleotide variant FANCA-related condition [RCV003979874] Chr16:89773392 [GRCh38]
Chr16:89839800 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+910A>C single nucleotide variant FANCA-related condition [RCV003896922] Chr16:89798256 [GRCh38]
Chr16:89864664 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.213A>G (p.Lys71=) single nucleotide variant FANCA-related condition [RCV003981340] Chr16:89814590 [GRCh38]
Chr16:89880998 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.893+922G>A single nucleotide variant FANCA-related condition [RCV003971856] Chr16:89798244 [GRCh38]
Chr16:89864652 [GRCh37]
Chr16:16q24.3		 likely benign
NM_000135.4(FANCA):c.3445T>C (p.Ser1149Pro) single nucleotide variant FANCA-related condition [RCV003913967] Chr16:89746652 [GRCh38]
Chr16:89813060 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000135.4(FANCA):c.1204G>T (p.Glu402Ter) single nucleotide variant FANCA-related condition [RCV003902177] Chr16:89791948 [GRCh38]
Chr16:89858356 [GRCh37]
Chr16:16q24.3		 likely pathogenic
GRCh37/hg19 16q24.3(chr16:89815067-89883023)x1 copy number loss not provided [RCV003334194] Chr16:89815067..89883023 [GRCh37]
Chr16:16q24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8526
Count of miRNA genes:1348
Interacting mature miRNAs:1794
Transcripts:ENST00000305699, ENST00000389301, ENST00000389302, ENST00000534992, ENST00000543736, ENST00000561660, ENST00000561667, ENST00000561722, ENST00000562424, ENST00000563318, ENST00000563510, ENST00000563513, ENST00000563673, ENST00000563767, ENST00000564475, ENST00000564870, ENST00000564969, ENST00000565582, ENST00000566133, ENST00000566409, ENST00000566889, ENST00000567205, ENST00000567284, ENST00000567510, ENST00000567621, ENST00000567879, ENST00000567883, ENST00000567943, ENST00000567988, ENST00000568369, ENST00000568626, ENST00000568983
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
PMC30172P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,828,263 - 89,828,476UniSTSGRCh37
Build 361688,355,764 - 88,355,977RGDNCBI36
Celera1674,892,503 - 74,892,716RGD
Cytogenetic Map16q24.3UniSTS
HuRef1675,523,200 - 75,523,413UniSTS
PMC33282P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,813,167 - 89,813,386UniSTSGRCh37
Build 361688,340,668 - 88,340,887RGDNCBI36
Celera1674,877,409 - 74,877,628RGD
Cytogenetic Map16q24.3UniSTS
HuRef1675,508,020 - 75,508,239UniSTS
FANCA_1338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,804,220 - 89,805,026UniSTSGRCh37
Build 361688,331,721 - 88,332,527RGDNCBI36
Celera1674,868,463 - 74,869,268RGD
HuRef1675,499,432 - 75,500,237UniSTS
SHGC-61164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,804,783 - 89,804,913UniSTSGRCh37
Build 361688,332,284 - 88,332,414RGDNCBI36
Celera1674,869,025 - 74,869,155RGD
Cytogenetic Map16q24.3UniSTS
HuRef1675,499,994 - 75,500,124UniSTS
GeneMap99-GB4 RH Map16499.87UniSTS
NCBI RH Map16689.2UniSTS
SHGC-60782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,804,921 - 89,805,047UniSTSGRCh37
Build 361688,332,422 - 88,332,548RGDNCBI36
Celera1674,869,163 - 74,869,289RGD
Cytogenetic Map16q24.3UniSTS
HuRef1675,500,132 - 75,500,258UniSTS
GeneMap99-GB4 RH Map16497.98UniSTS
Whitehead-RH Map16353.1UniSTS
NCBI RH Map16689.2UniSTS
G44297  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q24.3UniSTS
HuRef1675,553,874 - 75,553,977UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 133 10 38 30 619 32 229 48 84 61 535 223 8 2
Low 1427 1644 1636 560 1288 408 2760 460 2768 251 853 1378 158 1 1072 1480 4 2
Below cutoff 879 1335 52 34 44 25 1367 1685 882 107 71 12 9 132 1308

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001018112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF054569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ131188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ131189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ131190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ225084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ225085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY339878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY339879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY339880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY598423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC120978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC120979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY995664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ574346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000305699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,739,741 - 89,765,039 (-)Ensembl
RefSeq Acc Id: ENST00000389301   ⟹   ENSP00000373952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,737,549 - 89,816,647 (-)Ensembl
RefSeq Acc Id: ENST00000389302   ⟹   ENSP00000373953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,374 - 89,816,657 (-)Ensembl
RefSeq Acc Id: ENST00000534992   ⟹   ENSP00000443675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,919 - 89,816,655 (-)Ensembl
RefSeq Acc Id: ENST00000543736   ⟹   ENSP00000443409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,919 - 89,816,657 (-)Ensembl
RefSeq Acc Id: ENST00000561660   ⟹   ENSP00000456588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,745,027 - 89,765,044 (-)Ensembl
RefSeq Acc Id: ENST00000561667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,726,683 - 89,816,656 (-)Ensembl
RefSeq Acc Id: ENST00000561722   ⟹   ENSP00000456608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,493 - 89,740,078 (-)Ensembl
RefSeq Acc Id: ENST00000562424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,495 - 89,739,758 (-)Ensembl
RefSeq Acc Id: ENST00000563318   ⟹   ENSP00000457970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,752,161 - 89,767,147 (-)Ensembl
RefSeq Acc Id: ENST00000563510   ⟹   ENSP00000456993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,748,764 - 89,764,947 (-)Ensembl
RefSeq Acc Id: ENST00000563513   ⟹   ENSP00000455946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,808,311 - 89,816,621 (-)Ensembl
RefSeq Acc Id: ENST00000563673   ⟹   ENSP00000456443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,385 - 89,816,635 (-)Ensembl
RefSeq Acc Id: ENST00000563767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,791,024 - 89,815,900 (-)Ensembl
RefSeq Acc Id: ENST00000564475   ⟹   ENSP00000454977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,503 - 89,816,658 (-)Ensembl
RefSeq Acc Id: ENST00000564870   ⟹   ENSP00000456481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,883 - 89,742,828 (-)Ensembl
RefSeq Acc Id: ENST00000564969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,739,363 - 89,745,008 (-)Ensembl
RefSeq Acc Id: ENST00000565582   ⟹   ENSP00000456722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,991 - 89,815,978 (-)Ensembl
RefSeq Acc Id: ENST00000566133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,791,563 - 89,792,725 (-)Ensembl
RefSeq Acc Id: ENST00000566409   ⟹   ENSP00000457647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,795,906 - 89,799,232 (-)Ensembl
RefSeq Acc Id: ENST00000566889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,354 - 89,816,647 (-)Ensembl
RefSeq Acc Id: ENST00000567205   ⟹   ENSP00000457027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,767,142 - 89,816,658 (-)Ensembl
RefSeq Acc Id: ENST00000567284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,770,229 - 89,816,658 (-)Ensembl
RefSeq Acc Id: ENST00000567510   ⟹   ENSP00000455969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,518 - 89,779,957 (-)Ensembl
RefSeq Acc Id: ENST00000567621   ⟹   ENSP00000456762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,791,508 - 89,816,658 (-)Ensembl
RefSeq Acc Id: ENST00000567879   ⟹   ENSP00000457006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,630 - 89,745,062 (-)Ensembl
RefSeq Acc Id: ENST00000567883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,810,572 - 89,816,608 (-)Ensembl
RefSeq Acc Id: ENST00000567943   ⟹   ENSP00000455941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,810,985 - 89,816,648 (-)Ensembl
RefSeq Acc Id: ENST00000567988   ⟹   ENSP00000454217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,742,902 - 89,765,004 (-)Ensembl
RefSeq Acc Id: ENST00000568369   ⟹   ENSP00000456829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,737,551 - 89,816,657 (-)Ensembl
RefSeq Acc Id: ENST00000568626   ⟹   ENSP00000455974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,739,282 - 89,749,816 (-)Ensembl
RefSeq Acc Id: ENST00000568983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,744,687 - 89,752,222 (-)Ensembl
RefSeq Acc Id: ENST00000696274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,503 - 89,808,963 (-)Ensembl
RefSeq Acc Id: ENST00000696275   ⟹   ENSP00000512517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,503 - 89,816,658 (-)Ensembl
RefSeq Acc Id: ENST00000696276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,759,624 - 89,816,658 (-)Ensembl
RefSeq Acc Id: ENST00000696277   ⟹   ENSP00000512518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,783,056 - 89,816,658 (-)Ensembl
RefSeq Acc Id: ENST00000696286   ⟹   ENSP00000512523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,503 - 89,816,647 (-)Ensembl
RefSeq Acc Id: ENST00000696287   ⟹   ENSP00000512524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,503 - 89,816,658 (-)Ensembl
RefSeq Acc Id: ENST00000696288   ⟹   ENSP00000512525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,305 - 89,815,900 (-)Ensembl
RefSeq Acc Id: ENST00000696291   ⟹   ENSP00000512530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,738,549 - 89,816,977 (-)Ensembl
RefSeq Acc Id: ENST00000696292   ⟹   ENSP00000512531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,791,024 - 89,815,900 (-)Ensembl
RefSeq Acc Id: ENST00000696293   ⟹   ENSP00000512532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,348 - 89,815,900 (-)Ensembl
RefSeq Acc Id: ENST00000696294   ⟹   ENSP00000512533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,374 - 89,815,900 (-)Ensembl
RefSeq Acc Id: ENST00000696295   ⟹   ENSP00000512534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,798,374 - 89,815,900 (-)Ensembl
RefSeq Acc Id: ENST00000696296   ⟹   ENSP00000512535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,803,617 - 89,815,900 (-)Ensembl
RefSeq Acc Id: NM_000135   ⟹   NP_000126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,737,549 - 89,816,647 (-)NCBI
GRCh371689,803,959 - 89,883,066 (-)NCBI
Build 361688,331,460 - 88,410,566 (-)NCBI Archive
HuRef1675,499,171 - 75,578,023 (-)ENTREZGENE
CHM1_11691,215,162 - 91,294,341 (-)NCBI
T2T-CHM13v2.01695,822,301 - 95,901,198 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001018112   ⟹   NP_001018122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,798,354 - 89,816,647 (-)NCBI
GRCh371689,803,959 - 89,883,066 (-)NCBI
Build 361688,392,268 - 88,410,566 (-)NCBI Archive
HuRef1675,499,171 - 75,578,023 (-)ENTREZGENE
CHM1_11691,276,001 - 91,294,341 (-)NCBI
T2T-CHM13v2.01695,882,900 - 95,901,198 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286167   ⟹   NP_001273096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,737,549 - 89,816,647 (-)NCBI
HuRef1675,499,171 - 75,578,023 (-)NCBI
CHM1_11691,215,162 - 91,294,341 (-)NCBI
T2T-CHM13v2.01695,822,301 - 95,901,198 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351830   ⟹   NP_001338759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,798,354 - 89,816,647 (-)NCBI
T2T-CHM13v2.01695,882,900 - 95,901,198 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000126 (Get FASTA)   NCBI Sequence Viewer  
  NP_001018122 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273096 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338759 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC28331 (Get FASTA)   NCBI Sequence Viewer  
  AAC28751 (Get FASTA)   NCBI Sequence Viewer  
  AAC33304 (Get FASTA)   NCBI Sequence Viewer  
  AAC33401 (Get FASTA)   NCBI Sequence Viewer  
  AAH08979 (Get FASTA)   NCBI Sequence Viewer  
  AAH64540 (Get FASTA)   NCBI Sequence Viewer  
  AAI20979 (Get FASTA)   NCBI Sequence Viewer  
  AAI20980 (Get FASTA)   NCBI Sequence Viewer  
  AAI27634 (Get FASTA)   NCBI Sequence Viewer  
  AAI41972 (Get FASTA)   NCBI Sequence Viewer  
  AAI41973 (Get FASTA)   NCBI Sequence Viewer  
  AAP36030 (Get FASTA)   NCBI Sequence Viewer  
  AAS99350 (Get FASTA)   NCBI Sequence Viewer  
  BAG61299 (Get FASTA)   NCBI Sequence Viewer  
  BAH13420 (Get FASTA)   NCBI Sequence Viewer  
  CAA12393 (Get FASTA)   NCBI Sequence Viewer  
  CAA12394 (Get FASTA)   NCBI Sequence Viewer  
  CAA67610 (Get FASTA)   NCBI Sequence Viewer  
  CAB05445 (Get FASTA)   NCBI Sequence Viewer  
  CAB46098 (Get FASTA)   NCBI Sequence Viewer  
  CAB46099 (Get FASTA)   NCBI Sequence Viewer  
  CAB46100 (Get FASTA)   NCBI Sequence Viewer  
  CCQ42968 (Get FASTA)   NCBI Sequence Viewer  
  EAW66685 (Get FASTA)   NCBI Sequence Viewer  
  EAW66686 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000373952
  ENSP00000373952.3
  ENSP00000373953
  ENSP00000373953.3
  ENSP00000443409
  ENSP00000443409.1
  ENSP00000443675.1
  ENSP00000454217.1
  ENSP00000454977.2
  ENSP00000455941.1
  ENSP00000455946.1
  ENSP00000455969.1
  ENSP00000455974.1
  ENSP00000456443.1
  ENSP00000456481.1
  ENSP00000456588.1
  ENSP00000456608.1
  ENSP00000456722.1
  ENSP00000456762.2
  ENSP00000456829
  ENSP00000456829.1
  ENSP00000456993.1
  ENSP00000457006.1
  ENSP00000457027.2
  ENSP00000457647.1
  ENSP00000457970.1
  ENSP00000512517.1
  ENSP00000512518.1
  ENSP00000512522.1
  ENSP00000512523.1
  ENSP00000512524.1
  ENSP00000512525.1
  ENSP00000512530.1
  ENSP00000512531.1
  ENSP00000512532.1
  ENSP00000512533.1
  ENSP00000512534.1
  ENSP00000512535.1
GenBank Protein O15360 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000126   ⟸   NM_000135
- Peptide Label: isoform a
- UniProtKB: Q9UPK3 (UniProtKB/Swiss-Prot),   Q9UEL9 (UniProtKB/Swiss-Prot),   Q9UEL8 (UniProtKB/Swiss-Prot),   Q9UEA5 (UniProtKB/Swiss-Prot),   Q96H18 (UniProtKB/Swiss-Prot),   Q92497 (UniProtKB/Swiss-Prot),   Q6PL10 (UniProtKB/Swiss-Prot),   O75266 (UniProtKB/Swiss-Prot),   H3BSR5 (UniProtKB/Swiss-Prot),   B4DRI7 (UniProtKB/Swiss-Prot),   A5D923 (UniProtKB/Swiss-Prot),   Q9Y6M2 (UniProtKB/Swiss-Prot),   O15360 (UniProtKB/Swiss-Prot),   H3BNS0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001018122   ⟸   NM_001018112
- Peptide Label: isoform b
- UniProtKB: A0PJU8 (UniProtKB/TrEMBL),   Q86U55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273096   ⟸   NM_001286167
- Peptide Label: isoform c
- UniProtKB: H3BNS0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001338759   ⟸   NM_001351830
- Peptide Label: isoform d
- UniProtKB: Q0VAP4 (UniProtKB/TrEMBL),   A0PJU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000443409   ⟸   ENST00000543736
RefSeq Acc Id: ENSP00000373952   ⟸   ENST00000389301
RefSeq Acc Id: ENSP00000373953   ⟸   ENST00000389302
RefSeq Acc Id: ENSP00000443675   ⟸   ENST00000534992
RefSeq Acc Id: ENSP00000456608   ⟸   ENST00000561722
RefSeq Acc Id: ENSP00000456588   ⟸   ENST00000561660
RefSeq Acc Id: ENSP00000456443   ⟸   ENST00000563673
RefSeq Acc Id: ENSP00000456993   ⟸   ENST00000563510
RefSeq Acc Id: ENSP00000455946   ⟸   ENST00000563513
RefSeq Acc Id: ENSP00000457970   ⟸   ENST00000563318
RefSeq Acc Id: ENSP00000454977   ⟸   ENST00000564475
RefSeq Acc Id: ENSP00000456481   ⟸   ENST00000564870
RefSeq Acc Id: ENSP00000456722   ⟸   ENST00000565582
RefSeq Acc Id: ENSP00000457647   ⟸   ENST00000566409
RefSeq Acc Id: ENSP00000454217   ⟸   ENST00000567988
RefSeq Acc Id: ENSP00000455941   ⟸   ENST00000567943
RefSeq Acc Id: ENSP00000457006   ⟸   ENST00000567879
RefSeq Acc Id: ENSP00000456762   ⟸   ENST00000567621
RefSeq Acc Id: ENSP00000455969   ⟸   ENST00000567510
RefSeq Acc Id: ENSP00000457027   ⟸   ENST00000567205
RefSeq Acc Id: ENSP00000456829   ⟸   ENST00000568369
RefSeq Acc Id: ENSP00000455974   ⟸   ENST00000568626
RefSeq Acc Id: ENSP00000512532   ⟸   ENST00000696293
RefSeq Acc Id: ENSP00000512518   ⟸   ENST00000696277
RefSeq Acc Id: ENSP00000512534   ⟸   ENST00000696295
RefSeq Acc Id: ENSP00000512535   ⟸   ENST00000696296
RefSeq Acc Id: ENSP00000512531   ⟸   ENST00000696292
RefSeq Acc Id: ENSP00000512517   ⟸   ENST00000696275
RefSeq Acc Id: ENSP00000512533   ⟸   ENST00000696294
RefSeq Acc Id: ENSP00000512525   ⟸   ENST00000696288
RefSeq Acc Id: ENSP00000512523   ⟸   ENST00000696286
RefSeq Acc Id: ENSP00000512524   ⟸   ENST00000696287
RefSeq Acc Id: ENSP00000512530   ⟸   ENST00000696291
Protein Domains
Fanconi anaemia group A protein N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15360-F1-model_v2 AlphaFold O15360 1-1455 view protein structure

Promoters
RGD ID:6810925
Promoter ID:HG_ACW:32336
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   Lymphoblastoid,   NB4
Transcripts:FANCA.FAPR07,   FANCA.UAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361688,358,649 - 88,359,149 (-)MPROMDB
RGD ID:6793111
Promoter ID:HG_KWN:24539
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_000135,   NM_001018112,   UC002FOV.1,   UC002FOX.1,   UC002FOY.1,   UC010CIU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361688,410,366 - 88,410,866 (-)MPROMDB
RGD ID:7233193
Promoter ID:EPDNEW_H22342
Type:initiation region
Name:FANCA_1
Description:Fanconi anemia complementation group A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,816,647 - 89,816,707EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3582 AgrOrtholog
COSMIC FANCA COSMIC
Ensembl Genes ENSG00000187741 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000389301 ENTREZGENE
  ENST00000389301.8 UniProtKB/Swiss-Prot
  ENST00000389302 ENTREZGENE
  ENST00000389302.7 UniProtKB/Swiss-Prot
  ENST00000534992.5 UniProtKB/TrEMBL
  ENST00000543736 ENTREZGENE
  ENST00000543736.5 UniProtKB/TrEMBL
  ENST00000561660.1 UniProtKB/TrEMBL
  ENST00000561667.2 UniProtKB/TrEMBL
  ENST00000561722.5 UniProtKB/TrEMBL
  ENST00000563318.1 UniProtKB/TrEMBL
  ENST00000563510.5 UniProtKB/TrEMBL
  ENST00000563513.1 UniProtKB/TrEMBL
  ENST00000563673.5 UniProtKB/TrEMBL
  ENST00000564475.6 UniProtKB/TrEMBL
  ENST00000564870.1 UniProtKB/TrEMBL
  ENST00000565582.5 UniProtKB/TrEMBL
  ENST00000566409.1 UniProtKB/TrEMBL
  ENST00000567205.2 UniProtKB/TrEMBL
  ENST00000567510.2 UniProtKB/TrEMBL
  ENST00000567621.6 UniProtKB/TrEMBL
  ENST00000567879.5 UniProtKB/TrEMBL
  ENST00000567943.1 UniProtKB/TrEMBL
  ENST00000567988.5 UniProtKB/TrEMBL
  ENST00000568369 ENTREZGENE
  ENST00000568369.6 UniProtKB/Swiss-Prot
  ENST00000568626.1 UniProtKB/TrEMBL
  ENST00000696275.1 UniProtKB/Swiss-Prot
  ENST00000696277.1 UniProtKB/TrEMBL
  ENST00000696286.1 UniProtKB/TrEMBL
  ENST00000696287.1 UniProtKB/TrEMBL
  ENST00000696288.1 UniProtKB/TrEMBL
  ENST00000696291.1 UniProtKB/TrEMBL
  ENST00000696292.1 UniProtKB/TrEMBL
  ENST00000696293.1 UniProtKB/TrEMBL
  ENST00000696294.1 UniProtKB/TrEMBL
  ENST00000696295.1 UniProtKB/TrEMBL
  ENST00000696296.1 UniProtKB/TrEMBL
GTEx ENSG00000187741 GTEx
HGNC ID HGNC:3582 ENTREZGENE
Human Proteome Map FANCA Human Proteome Map
InterPro FANCA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fanconi_A_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2175 UniProtKB/Swiss-Prot
NCBI Gene 2175 ENTREZGENE
OMIM 607139 OMIM
PANTHER FANCONI ANEMIA GROUP A PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12047 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fanconi_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fanconi_A_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27995 PharmGKB
PRINTS FANCONIAGENE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3SID5_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIN0_HUMAN UniProtKB/TrEMBL
  A0A8Q3SJ96_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL44_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL48_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL53_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL54_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL60_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL82_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLP8_HUMAN UniProtKB/TrEMBL
  A0A8Q3WM51_HUMAN UniProtKB/TrEMBL
  A0PJU8 ENTREZGENE, UniProtKB/TrEMBL
  A5D923 ENTREZGENE
  B4DRI7 ENTREZGENE
  F5H8D5_HUMAN UniProtKB/TrEMBL
  FANCA_HUMAN UniProtKB/Swiss-Prot
  H3BM41_HUMAN UniProtKB/TrEMBL
  H3BNS0 ENTREZGENE, UniProtKB/TrEMBL
  H3BQU1_HUMAN UniProtKB/TrEMBL
  H3BQU6_HUMAN UniProtKB/TrEMBL
  H3BQW7_HUMAN UniProtKB/TrEMBL
  H3BQX1_HUMAN UniProtKB/TrEMBL
  H3BRX3_HUMAN UniProtKB/TrEMBL
  H3BS03_HUMAN UniProtKB/TrEMBL
  H3BS84_HUMAN UniProtKB/TrEMBL
  H3BSA3_HUMAN UniProtKB/TrEMBL
  H3BSI9_HUMAN UniProtKB/TrEMBL
  H3BSL6_HUMAN UniProtKB/TrEMBL
  H3BSR5 ENTREZGENE
  H3BT32_HUMAN UniProtKB/TrEMBL
  H3BT40_HUMAN UniProtKB/TrEMBL
  H3BT53_HUMAN UniProtKB/TrEMBL
  H3BUI1_HUMAN UniProtKB/TrEMBL
  H3BV66_HUMAN UniProtKB/TrEMBL
  L8E9D3_HUMAN UniProtKB/TrEMBL
  O15360 ENTREZGENE
  O75266 ENTREZGENE
  Q0VAP3_HUMAN UniProtKB/TrEMBL
  Q0VAP4 ENTREZGENE, UniProtKB/TrEMBL
  Q6PL10 ENTREZGENE
  Q86U55 ENTREZGENE, UniProtKB/TrEMBL
  Q92497 ENTREZGENE
  Q96H18 ENTREZGENE
  Q9UEA5 ENTREZGENE
  Q9UEL8 ENTREZGENE
  Q9UEL9 ENTREZGENE
  Q9UPK3 ENTREZGENE
  Q9Y4Z8_HUMAN UniProtKB/TrEMBL
  Q9Y4Z9_HUMAN UniProtKB/TrEMBL
  Q9Y500_HUMAN UniProtKB/TrEMBL
  Q9Y6M2 ENTREZGENE
UniProt Secondary A5D923 UniProtKB/Swiss-Prot
  B4DRI7 UniProtKB/Swiss-Prot
  H3BSR5 UniProtKB/Swiss-Prot
  O75266 UniProtKB/Swiss-Prot
  Q6PL10 UniProtKB/Swiss-Prot
  Q92497 UniProtKB/Swiss-Prot
  Q96H18 UniProtKB/Swiss-Prot
  Q9UEA5 UniProtKB/Swiss-Prot
  Q9UEL8 UniProtKB/Swiss-Prot
  Q9UEL9 UniProtKB/Swiss-Prot
  Q9UPK3 UniProtKB/Swiss-Prot
  Q9Y6M2 UniProtKB/Swiss-Prot


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