FANCM (FA complementation group M) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: FANCM (FA complementation group M) Homo sapiens
Analyze
Symbol: FANCM
Name: FA complementation group M
RGD ID: 1317358
HGNC Page HGNC:23168
Description: Enables chromatin binding activity. Involved in DNA metabolic process and positive regulation of protein monoubiquitination. Located in chromatin and nucleoplasm. Part of FANCM-MHF complex and Fanconi anaemia nuclear complex. Implicated in primary ovarian insufficiency 15 and spermatogenic failure 28. Biomarker of tongue squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent RNA helicase FANCM; FAAP250; Fanconi anemia complementation group M; Fanconi anemia group M protein; Fanconi anemia, complementation group M; fanconi anemia-associated polypeptide of 250 kDa; KIAA1596; MGC176453; POF15; protein Hef ortholog; SPGF28
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381445,135,930 - 45,200,890 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1445,135,930 - 45,200,890 (+)EnsemblGRCh38hg38GRCh38
GRCh371445,605,133 - 45,670,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361444,674,886 - 44,739,840 (+)NCBINCBI36Build 36hg18NCBI36
Celera1425,466,389 - 25,531,345 (+)NCBICelera
Cytogenetic Map14q21.2NCBI
HuRef1425,716,007 - 25,780,814 (+)NCBIHuRef
CHM1_11445,543,284 - 45,608,236 (+)NCBICHM1_1
T2T-CHM13v2.01439,327,942 - 39,392,898 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal preputium morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal spermatogenesis  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Absent testis  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Aplastic anemia  (IAGP)
Arteriovenous malformation  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Cataract  (IAGP)
Choanal atresia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in males  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Dolichocephaly  (IAGP)
Duodenal stenosis  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Elevated circulating luteinizing hormone level  (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)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Increased circulating gonadotropin level  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Irregular menstruation  (IAGP)
Juvenile onset  (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)
Non-obstructive azoospermia  (IAGP)
Nystagmus  (IAGP)
Obstructive azoospermia  (IAGP)
Oligohydramnios  (IAGP)
Oligomenorrhea  (IAGP)
Ovarian neoplasm  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Phenotypic abnormality  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Retinoblastoma  (IAGP)
Scoliosis  (IAGP)
Secondary amenorrhea  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Sloping forehead  (IAGP)
Spina bifida  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma. Wreesmann VB, etal., ORL J Otorhinolaryngol Relat Spec. 2007;69(4):218-25. Epub 2007 Apr 4.
Additional References at PubMed
PMID:10997877   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15561718   PMID:16116422   PMID:16116434   PMID:16720839   PMID:17289582   PMID:17396147   PMID:18174376   PMID:18206976  
PMID:18285517   PMID:18976975   PMID:18995830   PMID:19270156   PMID:19423727   PMID:19536649   PMID:19690177   PMID:19737859   PMID:19913121   PMID:20010692   PMID:20064461   PMID:20160754  
PMID:20301575   PMID:20301753   PMID:20347428   PMID:20347429   PMID:20628086   PMID:20670894   PMID:21244100   PMID:21832049   PMID:21873635   PMID:21975120   PMID:22017875   PMID:22279085  
PMID:22343915   PMID:22392978   PMID:22510687   PMID:22658674   PMID:22696213   PMID:22705371   PMID:22990118   PMID:23333308   PMID:23509288   PMID:23698467   PMID:23932590   PMID:23999858  
PMID:24003026   PMID:24207054   PMID:24390579   PMID:24451376   PMID:24699063   PMID:24910428   PMID:24981860   PMID:25192599   PMID:25288723   PMID:25416956   PMID:26067930   PMID:26130695  
PMID:26496610   PMID:26625197   PMID:26825464   PMID:27351285   PMID:27398742   PMID:27542569   PMID:27723720   PMID:28033443   PMID:28514442   PMID:28673972   PMID:28702895   PMID:28837157  
PMID:28837162   PMID:29231814   PMID:29287190   PMID:29351780   PMID:29388117   PMID:29507755   PMID:29513927   PMID:29656893   PMID:29895858   PMID:30021884   PMID:30075111   PMID:30426508  
PMID:30606611   PMID:30686591   PMID:30714416   PMID:30804502   PMID:31067464   PMID:31138795   PMID:31180492   PMID:31663812   PMID:31836759   PMID:32296183   PMID:32769987   PMID:33118316  
PMID:33961781   PMID:34067580   PMID:35802266   PMID:36373674   PMID:36707629   PMID:37506885   PMID:39189453  


Genomics

Comparative Map Data
FANCM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381445,135,930 - 45,200,890 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1445,135,930 - 45,200,890 (+)EnsemblGRCh38hg38GRCh38
GRCh371445,605,133 - 45,670,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361444,674,886 - 44,739,840 (+)NCBINCBI36Build 36hg18NCBI36
Celera1425,466,389 - 25,531,345 (+)NCBICelera
Cytogenetic Map14q21.2NCBI
HuRef1425,716,007 - 25,780,814 (+)NCBIHuRef
CHM1_11445,543,284 - 45,608,236 (+)NCBICHM1_1
T2T-CHM13v2.01439,327,942 - 39,392,898 (+)NCBIT2T-CHM13v2.0
Fancm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391265,120,884 - 65,178,616 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1265,122,377 - 65,178,832 (+)EnsemblGRCm39 Ensembl
GRCm381265,074,110 - 65,131,842 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1265,075,603 - 65,132,058 (+)EnsemblGRCm38mm10GRCm38
MGSCv371266,176,593 - 66,233,045 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361265,994,211 - 66,050,663 (+)NCBIMGSCv36mm8
Celera1266,205,293 - 66,261,759 (+)NCBICelera
Cytogenetic Map12C1NCBI
cM Map1227.21NCBI
Fancm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8688,862,898 - 88,916,701 (+)NCBIGRCr8
mRatBN7.2683,126,903 - 83,180,455 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl683,127,093 - 83,180,028 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0686,823,195 - 86,877,067 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl686,823,684 - 86,876,633 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0696,312,237 - 96,365,616 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4686,424,156 - 86,476,902 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1686,462,951 - 86,480,559 (+)NCBI
Celera681,694,524 - 81,748,389 (+)NCBICelera
Cytogenetic Map6q24NCBI
Fancm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540916,751,658 - 16,809,352 (-)NCBIChiLan1.0ChiLan1.0
FANCM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21546,307,022 - 46,373,092 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11445,523,532 - 45,589,603 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01425,752,295 - 25,817,001 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11444,080,146 - 44,143,958 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1444,080,146 - 44,143,958 (+)Ensemblpanpan1.1panPan2
FANCM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1822,561,862 - 22,625,077 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl822,562,147 - 22,623,994 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha822,379,967 - 22,443,217 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0822,721,187 - 22,784,324 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl822,721,241 - 22,782,983 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1822,383,584 - 22,446,699 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0822,449,937 - 22,513,049 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0822,785,967 - 22,848,837 (+)NCBIUU_Cfam_GSD_1.0
Fancm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864054,543,349 - 54,604,838 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365834,085,802 - 4,145,621 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FANCM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1175,334,141 - 175,400,685 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11175,333,965 - 175,402,065 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21195,220,132 - 195,287,229 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FANCM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12422,255,750 - 22,327,191 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2422,256,236 - 22,329,609 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666116215,894 - 286,697 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fancm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473123,340,460 - 23,392,040 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473123,342,313 - 23,391,877 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FANCM
2491 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020937.4(FANCM):c.3219T>C (p.Asn1073=) single nucleotide variant not provided [RCV000914426] Chr14:45175973 [GRCh38]
Chr14:45645176 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4311T>C (p.Ser1437=) single nucleotide variant Fanconi anemia [RCV000549441]|Inborn genetic diseases [RCV004975636] Chr14:45181518 [GRCh38]
Chr14:45650721 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2758C>T (p.Pro920Ser) single nucleotide variant Fanconi anemia [RCV000530602]|Inborn genetic diseases [RCV003362824]|not provided [RCV003105941] Chr14:45175512 [GRCh38]
Chr14:45644715 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4784C>A (p.Pro1595His) single nucleotide variant Fanconi anemia [RCV000547355]|Inborn genetic diseases [RCV004975637] Chr14:45188806 [GRCh38]
Chr14:45658009 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1924A>G (p.Ile642Val) single nucleotide variant Fanconi anemia [RCV000555141] Chr14:45167085 [GRCh38]
Chr14:45636288 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4222+1981_4303del deletion Fanconi anemia, complementation group M [RCV000001666] Chr14:45178954..45181507 [GRCh38]
Chr14:45648157..45650710 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.5668A>G (p.Met1890Val) single nucleotide variant Fanconi anemia [RCV002001500]|not provided [RCV004774588] Chr14:45196499 [GRCh38]
Chr14:45665702 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter) single nucleotide variant Fanconi anemia [RCV001387795]|not provided [RCV000722356] Chr14:45153929 [GRCh38]
Chr14:45623132 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_020937.4(FANCM):c.119C>G (p.Ala40Gly) single nucleotide variant Fanconi anemia [RCV001866036]|not provided [RCV001571997] Chr14:45136150 [GRCh38]
Chr14:45605353 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3332T>A (p.Val1111Asp) single nucleotide variant not provided [RCV003321334] Chr14:45176086 [GRCh38]
Chr14:45645289 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1645_1661del (p.Gly549fs) deletion not provided [RCV000722606] Chr14:45164421..45164437 [GRCh38]
Chr14:45633624..45633640 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6016C>T (p.Gln2006Ter) single nucleotide variant not provided [RCV000722862] Chr14:45199877 [GRCh38]
Chr14:45669080 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter) single nucleotide variant Fanconi anemia [RCV001862117]|not provided [RCV000722426] Chr14:45167130 [GRCh38]
Chr14:45636333 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln) single nucleotide variant Fanconi anemia [RCV000543548]|Spermatogenic failure 28 [RCV002497056] Chr14:45136119 [GRCh38]
Chr14:45605322 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser) single nucleotide variant Fanconi anemia [RCV001302551]|Inborn genetic diseases [RCV004978272]|Spermatogenic failure 28 [RCV002493592]|not provided [RCV003159196] Chr14:45151521 [GRCh38]
Chr14:45620724 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.30G>A (p.Gln10=) single nucleotide variant FANCM-related disorder [RCV004537900]|Fanconi anemia [RCV000545488]|Hereditary cancer-predisposing syndrome [RCV002255432]|Inborn genetic diseases [RCV004975635]|not provided [RCV001788277] Chr14:45136061 [GRCh38]
Chr14:45605264 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.3692C>A (p.Thr1231Asn) single nucleotide variant Fanconi anemia [RCV000545807] Chr14:45176446 [GRCh38]
Chr14:45645649 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3150A>G (p.Glu1050=) single nucleotide variant Fanconi anemia [RCV001494281] Chr14:45175904 [GRCh38]
Chr14:45645107 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5166A>G (p.Pro1722=) single nucleotide variant Fanconi anemia [RCV001494347] Chr14:45189188 [GRCh38]
Chr14:45658391 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2171C>A (p.Ser724Ter) single nucleotide variant Fanconi anemia, complementation group M [RCV000001665] Chr14:45173065 [GRCh38]
Chr14:45642268 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q21.2(chr14:45135229-45729215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052103]|See cases [RCV000052103] Chr14:45135229..45729215 [GRCh38]
Chr14:45604432..46198418 [GRCh37]
Chr14:44674182..45268168 [NCBI36]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) deletion FANCM-related disorder [RCV004737936]|Fanconi anemia [RCV000800840]|Hereditary cancer-predisposing syndrome [RCV002257920]|Spermatogenic failure 28 [RCV002248851]|Spermatogenic failure 28 [RCV005010639]|not provided [RCV000657519] Chr14:45175337..45175340 [GRCh38]
Chr14:45644540..45644543 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_020937.4(FANCM):c.1397-15del deletion not specified [RCV000171476] Chr14:45159077 [GRCh38]
Chr14:45628284 [GRCh37]
Chr14:14q21.2		 likely pathogenic|likely benign
NM_020937.4(FANCM):c.868A>G (p.Ile290Val) single nucleotide variant Fanconi anemia [RCV001303038]|Spermatogenic failure 28 [RCV001294029]|Spermatogenic failure 28 [RCV002486107]|not provided [RCV002276684] Chr14:45148945 [GRCh38]
Chr14:45618148 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val) single nucleotide variant Fanconi anemia [RCV001907574]|Inborn genetic diseases [RCV002548026]|Spermatogenic failure 28 [RCV002503414]|not provided [RCV003478885] Chr14:45189088 [GRCh38]
Chr14:45658291 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala) single nucleotide variant Fanconi anemia [RCV002538430]|Spermatogenic failure 28 [RCV001294027]|Spermatogenic failure 28 [RCV002493545] Chr14:45189315 [GRCh38]
Chr14:45658518 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) duplication Fanconi anemia [RCV001206024]|Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991575]|Spermatogenic failure 28 [RCV000677275]|not provided [RCV000190644] Chr14:45159189..45159190 [GRCh38]
Chr14:45628392..45628393 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.2306G>A (p.Arg769Lys) single nucleotide variant Fanconi anemia [RCV001304054] Chr14:45173200 [GRCh38]
Chr14:45642403 [GRCh37]
Chr14:14q21.2		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) single nucleotide variant Fanconi anemia [RCV000233839]|Premature ovarian failure 15 [RCV003316124]|not provided [RCV001565172]|not specified [RCV000203014] Chr14:45188821 [GRCh38]
Chr14:45658024 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3		 likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) single nucleotide variant FANCM-related disorder [RCV004530112]|Fanconi anemia [RCV000475473]|Premature ovarian failure 15 [RCV003316085]|not provided [RCV001538837]|not specified [RCV000192828] Chr14:45196487 [GRCh38]
Chr14:45665690 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser) single nucleotide variant Fanconi anemia [RCV000462590]|Premature ovarian failure 15 [RCV003316083]|not provided [RCV001552999]|not specified [RCV000194131] Chr14:45176617 [GRCh38]
Chr14:45645820 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=) single nucleotide variant Fanconi anemia [RCV000468649]|Premature ovarian failure 15 [RCV003316084]|not provided [RCV001545286]|not specified [RCV000194621] Chr14:45189212 [GRCh38]
Chr14:45658415 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=) single nucleotide variant FANCM-related disorder [RCV004537901]|Fanconi anemia [RCV000544551]|Hereditary cancer-predisposing syndrome [RCV002255433]|Inborn genetic diseases [RCV004975638]|Premature ovarian failure 15 [RCV003316679]|Spermatogenic failure 28 [RCV002497055]|not provided [RCV001574458]|not specified [RCV001821484] Chr14:45198735 [GRCh38]
Chr14:45667938 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.5199G>A (p.Gln1733=) single nucleotide variant Fanconi anemia [RCV000524875] Chr14:45189221 [GRCh38]
Chr14:45658424 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=) single nucleotide variant Fanconi anemia [RCV000228136]|Hereditary cancer-predisposing syndrome [RCV002257594]|Inborn genetic diseases [RCV004975353]|Premature ovarian failure 15 [RCV003316298]|not provided [RCV001562605]|not specified [RCV003150997] Chr14:45181467 [GRCh38]
Chr14:45650670 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) single nucleotide variant Fanconi anemia [RCV000230015]|Premature ovarian failure 15 [RCV003316301]|not provided [RCV001548048]|not specified [RCV000506045] Chr14:45137184 [GRCh38]
Chr14:45606387 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) single nucleotide variant FANCM-related disorder [RCV004541449]|Fanconi anemia [RCV000230307]|not provided [RCV001706272]|not specified [RCV000503092] Chr14:45175794 [GRCh38]
Chr14:45644997 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.2190A>G (p.Gln730=) single nucleotide variant Fanconi anemia [RCV000231257]|Hereditary cancer-predisposing syndrome [RCV002257593]|Premature ovarian failure 15 [RCV003316295]|not provided [RCV001706271]|not specified [RCV002479925] Chr14:45173084 [GRCh38]
Chr14:45642287 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=) single nucleotide variant Fanconi anemia [RCV000226114]|Inborn genetic diseases [RCV004975355]|Premature ovarian failure 15 [RCV003316300]|not provided [RCV001551145]|not specified [RCV003150998] Chr14:45196408 [GRCh38]
Chr14:45665611 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) single nucleotide variant Fanconi anemia [RCV000231642]|Hereditary cancer-predisposing syndrome [RCV002257595]|Spermatogenic failure 28 [RCV001331161]|not provided [RCV000658692]|not specified [RCV000253417] Chr14:45189246 [GRCh38]
Chr14:45658449 [GRCh37]
Chr14:14q21.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) single nucleotide variant Fanconi anemia [RCV000233464]|Hereditary cancer-predisposing syndrome [RCV002255337]|not provided [RCV001570689]|not specified [RCV001820757] Chr14:45151518 [GRCh38]
Chr14:45620721 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) single nucleotide variant FANCM-related disorder [RCV004541450]|Fanconi anemia [RCV000232042]|not provided [RCV001564322]|not specified [RCV001820758] Chr14:45185264 [GRCh38]
Chr14:45654467 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) single nucleotide variant Fanconi anemia [RCV000234191]|Inborn genetic diseases [RCV004975352]|Premature ovarian failure 15 [RCV003316296]|not provided [RCV001577051]|not specified [RCV000244452] Chr14:45175199 [GRCh38]
Chr14:45644402 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser) single nucleotide variant Fanconi anemia [RCV000227373]|not provided [RCV001569522]|not specified [RCV000246701] Chr14:45167125 [GRCh38]
Chr14:45636328 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys) single nucleotide variant Fanconi anemia [RCV000234221]|Premature ovarian failure 15 [RCV003316297]|not provided [RCV004714552]|not specified [RCV002479926] Chr14:45176674 [GRCh38]
Chr14:45645877 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met) single nucleotide variant FANCM-related disorder [RCV004541448]|Fanconi anemia [RCV000227957]|Hereditary cancer-predisposing syndrome [RCV002256168]|Spermatogenic failure 28 [RCV005008204]|not provided [RCV001536588] Chr14:45175271 [GRCh38]
Chr14:45644474 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=) single nucleotide variant Fanconi anemia [RCV000228727]|Inborn genetic diseases [RCV004975354]|Premature ovarian failure 15 [RCV003316299]|not provided [RCV001556141]|not specified [RCV000249229] Chr14:45189164 [GRCh38]
Chr14:45658367 [GRCh37]
Chr14:14q21.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) single nucleotide variant Fanconi anemia [RCV000547696]|Spermatogenic failure 28 [RCV000763927]|Spermatogenic failure 28 [RCV001292883]|not provided [RCV001797097] Chr14:45154705 [GRCh38]
Chr14:45623908 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) single nucleotide variant Fanconi anemia [RCV001521136]|Premature ovarian failure 15 [RCV001702400]|Spermatogenic failure 28 [RCV001701908]|not provided [RCV001651242]|not specified [RCV000248758] Chr14:45196265 [GRCh38]
Chr14:45665468 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) single nucleotide variant Fanconi anemia [RCV000322783]|Premature ovarian failure 15 [RCV003316442]|not provided [RCV001546432]|not specified [RCV000253717] Chr14:45196458 [GRCh38]
Chr14:45665661 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.1397-15TA[6] microsatellite Fanconi anemia [RCV002058305]|Premature ovarian failure 15 [RCV001701972]|Spermatogenic failure 28 [RCV001701905]|not provided [RCV001683100]|not specified [RCV000241683] Chr14:45159081..45159082 [GRCh38]
Chr14:45628284..45628285 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) single nucleotide variant Fanconi anemia [RCV001521134]|Premature ovarian failure 15 [RCV001701974]|Spermatogenic failure 28 [RCV001701906]|not provided [RCV001668574]|not specified [RCV000248939] Chr14:45181697 [GRCh38]
Chr14:45650900 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.4516-5_4516-2del microsatellite Fanconi anemia [RCV001521135]|Premature ovarian failure 15 [RCV001702399]|Spermatogenic failure 28 [RCV001701907]|not provided [RCV001610720]|not specified [RCV000253891] Chr14:45185208..45185211 [GRCh38]
Chr14:45654411..45654414 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4905T>C (p.Phe1635=) single nucleotide variant not specified [RCV000244270] Chr14:45188927 [GRCh38]
Chr14:45658130 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) single nucleotide variant Fanconi anemia [RCV000346883]|Premature ovarian failure 15 [RCV003316438]|not provided [RCV001582874]|not specified [RCV000251646] Chr14:45136260 [GRCh38]
Chr14:45605463 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) single nucleotide variant Fanconi anemia [RCV000334023]|Premature ovarian failure 15 [RCV003316440]|not provided [RCV001541491]|not specified [RCV000244783] Chr14:45176512 [GRCh38]
Chr14:45645715 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) single nucleotide variant Fanconi anemia [RCV000304212]|Inborn genetic diseases [RCV004975379]|Premature ovarian failure 15 [RCV003316437]|not provided [RCV004703553]|not specified [RCV000249711] Chr14:45151519 [GRCh38]
Chr14:45620722 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.172C>T (p.Leu58Phe) single nucleotide variant Fanconi anemia [RCV000525416]|Inborn genetic diseases [RCV004975633]|not provided [RCV001755795] Chr14:45136203 [GRCh38]
Chr14:45605406 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) single nucleotide variant Fanconi anemia [RCV001515921]|Premature ovarian failure 15 [RCV003316441]|not provided [RCV001689904]|not specified [RCV000245424] Chr14:45137084 [GRCh38]
Chr14:45606287 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) single nucleotide variant Fanconi anemia [RCV001521133]|Premature ovarian failure 15 [RCV001262420]|Spermatogenic failure 28 [RCV001701973]|not provided [RCV001540200]|not specified [RCV000247806] Chr14:45175386 [GRCh38]
Chr14:45644589 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) single nucleotide variant Fanconi anemia [RCV000358692]|Premature ovarian failure 15 [RCV003316439]|not provided [RCV004705113]|not specified [RCV000252772] Chr14:45175503 [GRCh38]
Chr14:45644706 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.1996A>G (p.Arg666Gly) single nucleotide variant FANCM-related disorder [RCV004537898]|Fanconi anemia [RCV000529036]|not provided [RCV003231525] Chr14:45167157 [GRCh38]
Chr14:45636360 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) single nucleotide variant Fanconi anemia [RCV000383399]|Premature ovarian failure 15 [RCV003316443]|not provided [RCV001610721]|not specified [RCV000245541] Chr14:45200002 [GRCh38]
Chr14:45669205 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.2734A>G (p.Ile912Val) single nucleotide variant Fanconi anemia [RCV000301587]|not provided [RCV003441837] Chr14:45175488 [GRCh38]
Chr14:45644691 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5887A>G (p.Thr1963Ala) single nucleotide variant Fanconi anemia [RCV001299863]|not provided [RCV002259335] Chr14:45198814 [GRCh38]
Chr14:45668017 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) single nucleotide variant FANCM-related disorder [RCV004537777]|Fanconi anemia [RCV000269296]|Hereditary breast ovarian cancer syndrome [RCV001030474]|Spermatogenic failure 28 [RCV000763930]|Spermatogenic failure 28 [RCV001292875]|not provided [RCV001590938]|not specified [RCV004999298] Chr14:45164518 [GRCh38]
Chr14:45633721 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) single nucleotide variant FANCM-related disorder [RCV004537778]|Fanconi anemia [RCV000271250]|Hepatoblastoma [RCV001843509]|Hereditary cancer-predisposing syndrome [RCV002255362]|Spermatogenic failure 28 [RCV000763932]|Spermatogenic failure 28 [RCV001770252]|not provided [RCV000585067]|not specified [RCV001820928] Chr14:45175613 [GRCh38]
Chr14:45644816 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp) single nucleotide variant Fanconi anemia [RCV001886831]|not provided [RCV002274232] Chr14:45185307 [GRCh38]
Chr14:45654510 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) single nucleotide variant Fanconi anemia [RCV000378941]|Hereditary cancer [RCV004701404]|Spermatogenic failure 28 [RCV000765163]|not provided [RCV001357884] Chr14:45181685 [GRCh38]
Chr14:45650888 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) single nucleotide variant FANCM-related disorder [RCV004537773]|Fanconi anemia [RCV000291828]|Hereditary cancer-predisposing syndrome [RCV002256201]|Spermatogenic failure 28 [RCV003224257]|not provided [RCV000767964]|not specified [RCV001820925] Chr14:45136202 [GRCh38]
Chr14:45605405 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.5824G>A (p.Ala1942Thr) single nucleotide variant Fanconi anemia [RCV003523147]|Inborn genetic diseases [RCV004978797]|not provided [RCV003149244] Chr14:45198751 [GRCh38]
Chr14:45667954 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys) single nucleotide variant Fanconi anemia [RCV001338741]|Spermatogenic failure 28 [RCV005010271]|not provided [RCV002274014] Chr14:45188955 [GRCh38]
Chr14:45658158 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3998A>C (p.Gln1333Pro) single nucleotide variant Fanconi anemia [RCV000275476]|not provided [RCV001564652] Chr14:45176752 [GRCh38]
Chr14:45645955 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) single nucleotide variant FANCM-related disorder [RCV004537774]|Fanconi anemia [RCV000382796]|Spermatogenic failure 28 [RCV002480130]|not provided [RCV001660632]|not specified [RCV001820926] Chr14:45136300 [GRCh38]
Chr14:45605503 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) single nucleotide variant Fanconi anemia [RCV000404077]|Premature ovarian failure 15 [RCV003316477]|not provided [RCV001706481]|not specified [RCV000507930] Chr14:45175424 [GRCh38]
Chr14:45644627 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020937.4(FANCM):c.390C>T (p.Arg130=) single nucleotide variant Fanconi anemia [RCV000295788] Chr14:45136421 [GRCh38]
Chr14:45605624 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) single nucleotide variant FANCM-related disorder [RCV004537775]|Fanconi anemia [RCV000338024]|Spermatogenic failure 28 [RCV001293001]|not provided [RCV001706479]|not specified [RCV000503452] Chr14:45137087 [GRCh38]
Chr14:45606290 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro) single nucleotide variant Fanconi anemia [RCV000388169]|not provided [RCV001764282] Chr14:45167041 [GRCh38]
Chr14:45636244 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4222+7T>G single nucleotide variant FANCM-related disorder [RCV004537779]|Fanconi anemia [RCV000278705]|Hereditary cancer-predisposing syndrome [RCV002257636]|not specified [RCV001820929] Chr14:45176983 [GRCh38]
Chr14:45646186 [GRCh37]
Chr14:14q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) single nucleotide variant Fanconi anemia [RCV000367982]|not provided [RCV000658691] Chr14:45189130 [GRCh38]
Chr14:45658333 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.2240A>G (p.His747Arg) single nucleotide variant Fanconi anemia [RCV000280719]|Hereditary breast ovarian cancer syndrome [RCV001030476]|not provided [RCV001597071] Chr14:45173134 [GRCh38]
Chr14:45642337 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3327T>C (p.Asn1109=) single nucleotide variant Fanconi anemia [RCV000270078] Chr14:45176081 [GRCh38]
Chr14:45645284 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6138T>G (p.Ser2046=) single nucleotide variant Fanconi anemia [RCV001398358] Chr14:45199999 [GRCh38]
Chr14:45669202 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3758A>T (p.Asn1253Ile) single nucleotide variant Fanconi anemia [RCV000367621] Chr14:45176512 [GRCh38]
Chr14:45645715 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4878T>C (p.Asp1626=) single nucleotide variant Fanconi anemia [RCV001458200]|Inborn genetic diseases [RCV004975441]|not provided [RCV001562989]|not specified [RCV000500031] Chr14:45188900 [GRCh38]
Chr14:45658103 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) single nucleotide variant FANCM-related disorder [RCV004544558]|Fanconi anemia [RCV000347988]|Spermatogenic failure 28 [RCV002487387]|not provided [RCV001786361]|not specified [RCV001820930] Chr14:45185328 [GRCh38]
Chr14:45654531 [GRCh37]
Chr14:14q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.2160+10A>G single nucleotide variant Fanconi anemia [RCV000348681] Chr14:45170756 [GRCh38]
Chr14:45639959 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr) single nucleotide variant Fanconi anemia [RCV000326638]|Spermatogenic failure 28 [RCV002480131]|not provided [RCV001552736] Chr14:45164537 [GRCh38]
Chr14:45633740 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr) single nucleotide variant Fanconi anemia [RCV000350778]|Spermatogenic failure 28 [RCV002502227]|not provided [RCV002461070] Chr14:45136527 [GRCh38]
Chr14:45605730 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala) single nucleotide variant FANCM-related disorder [RCV004544556]|Fanconi anemia [RCV000353097]|Hereditary cancer-predisposing syndrome [RCV002258875]|not provided [RCV001706480] Chr14:45151404 [GRCh38]
Chr14:45620607 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His) single nucleotide variant FANCM-related disorder [RCV004544559]|Fanconi anemia [RCV000402989]|Hereditary breast ovarian cancer syndrome [RCV001030549]|Hereditary cancer-predisposing syndrome [RCV002256202]|not provided [RCV003229827] Chr14:45187817 [GRCh38]
Chr14:45657020 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala) single nucleotide variant Fanconi anemia [RCV000403259]|not provided [RCV004591119] Chr14:45175143 [GRCh38]
Chr14:45644346 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.*375A>G single nucleotide variant Fanconi anemia [RCV000405861] Chr14:45200383 [GRCh38]
Chr14:45669586 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) single nucleotide variant Fanconi anemia [RCV000406113]|Spermatogenic failure 28 [RCV001292984]|Spermatogenic failure 28 [RCV002494982]|not provided [RCV001797079]|not specified [RCV001820927] Chr14:45137107 [GRCh38]
Chr14:45606310 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) single nucleotide variant FANCM-related disorder [RCV004537776]|Fanconi anemia [RCV000383479]|Hereditary cancer-predisposing syndrome [RCV002255361]|Spermatogenic failure 28 [RCV000763929]|Spermatogenic failure 28 [RCV001292951]|not provided [RCV000484209] Chr14:45159275 [GRCh38]
Chr14:45628478 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.*232G>A single nucleotide variant not provided [RCV001674452] Chr14:45200240 [GRCh38]
Chr14:45669443 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser) single nucleotide variant Fanconi anemia [RCV001875615]|Spermatogenic failure 28 [RCV002503492]|not provided [RCV003314705] Chr14:45155457 [GRCh38]
Chr14:45624660 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala) single nucleotide variant Fanconi anemia [RCV000338059]|not provided [RCV004999299] Chr14:45175093 [GRCh38]
Chr14:45644296 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=) single nucleotide variant FANCM-related disorder [RCV004544557]|Fanconi anemia [RCV001427311]|Inborn genetic diseases [RCV004975440]|Spermatogenic failure 28 [RCV002487386] Chr14:45175850 [GRCh38]
Chr14:45645053 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4047A>G (p.Ser1349=) single nucleotide variant Fanconi anemia [RCV001431780] Chr14:45176801 [GRCh38]
Chr14:45646004 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) single nucleotide variant Fanconi anemia [RCV000319300]|Spermatogenic failure 28 [RCV002480132]|not provided [RCV001660633] Chr14:45189199 [GRCh38]
Chr14:45658402 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4516-262dup duplication not provided [RCV001546643] Chr14:45184940..45184941 [GRCh38]
Chr14:45654143..45654144 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2267G>A (p.Arg756His) single nucleotide variant FANCM-related disorder [RCV004541643]|Fanconi anemia [RCV000526327]|Hereditary cancer-predisposing syndrome [RCV002257786]|Premature ovarian failure 15 [RCV003316678]|not provided [RCV001591192] Chr14:45173161 [GRCh38]
Chr14:45642364 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.1815AAG[1] (p.Arg606del) microsatellite not provided [RCV000722422] Chr14:45166976..45166978 [GRCh38]
Chr14:45636179..45636181 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.*100TTTA[1] microsatellite Fanconi anemia [RCV000291676] Chr14:45200108..45200111 [GRCh38]
Chr14:45669311..45669314 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4261G>A (p.Glu1421Lys) single nucleotide variant Fanconi anemia [RCV000317395]|not provided [RCV001753773] Chr14:45181468 [GRCh38]
Chr14:45650671 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.*368C>G single nucleotide variant Fanconi anemia [RCV000348748] Chr14:45200376 [GRCh38]
Chr14:45669579 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.508+5C>G single nucleotide variant Fanconi anemia [RCV001346591]|Spermatogenic failure 28 [RCV005010270] Chr14:45136544 [GRCh38]
Chr14:45605747 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.*254dup duplication Fanconi anemia [RCV000295100]|not provided [RCV001582952] Chr14:45200260..45200261 [GRCh38]
Chr14:45669463..45669464 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.*797T>C single nucleotide variant Fanconi anemia [RCV000405484] Chr14:45200805 [GRCh38]
Chr14:45670008 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.555A>G (p.Arg185=) single nucleotide variant Fanconi anemia [RCV000298177] Chr14:45137115 [GRCh38]
Chr14:45606318 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) single nucleotide variant Fanconi anemia [RCV000630947]|Hereditary cancer-predisposing syndrome [RCV002255425]|Spermatogenic failure 28 [RCV000765162]|not provided [RCV000522616] Chr14:45176746 [GRCh38]
Chr14:45645949 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5097A>G (p.Lys1699=) single nucleotide variant Fanconi anemia [RCV000310996] Chr14:45189119 [GRCh38]
Chr14:45658322 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.*756G>A single nucleotide variant Fanconi anemia [RCV000356870] Chr14:45200764 [GRCh38]
Chr14:45669967 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.*546C>G single nucleotide variant Fanconi anemia [RCV000299751] Chr14:45200554 [GRCh38]
Chr14:45669757 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4102G>A (p.Val1368Ile) single nucleotide variant Fanconi anemia [RCV000375904] Chr14:45176856 [GRCh38]
Chr14:45646059 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2699C>T (p.Thr900Ile) single nucleotide variant Fanconi anemia [RCV000531508] Chr14:45175453 [GRCh38]
Chr14:45644656 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.92G>T (p.Arg31Leu) single nucleotide variant not provided [RCV003228294] Chr14:45136123 [GRCh38]
Chr14:45605326 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1539A>G (p.Ser513=) single nucleotide variant Fanconi anemia [RCV001488825] Chr14:45159238 [GRCh38]
Chr14:45628441 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.*140_*144del deletion Fanconi anemia [RCV000344243] Chr14:45200146..45200150 [GRCh38]
Chr14:45669349..45669353 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1416del (p.Lys473fs) deletion not provided [RCV000627545] Chr14:45159115 [GRCh38]
Chr14:45628318 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala) single nucleotide variant Fanconi anemia [RCV000535465]|not provided [RCV003237890] Chr14:45136383 [GRCh38]
Chr14:45605586 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter) single nucleotide variant Fanconi anemia [RCV000557989] Chr14:45154709 [GRCh38]
Chr14:45623912 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.4367G>A (p.Arg1456His) single nucleotide variant Fanconi anemia [RCV000538157]|not provided [RCV001552330] Chr14:45181686 [GRCh38]
Chr14:45650889 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser) single nucleotide variant Fanconi anemia [RCV001222225]|Spermatogenic failure 28 [RCV002481278]|not specified [RCV000413212] Chr14:45164413 [GRCh38]
Chr14:45633616 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1396+10A>G single nucleotide variant FANCM-related disorder [RCV004537897]|Fanconi anemia [RCV000536435] Chr14:45155469 [GRCh38]
Chr14:45624672 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2628T>C (p.Asp876=) single nucleotide variant FANCM-related disorder [RCV004537899]|Fanconi anemia [RCV000553085]|Inborn genetic diseases [RCV004975634]|not provided [RCV001567656] Chr14:45175382 [GRCh38]
Chr14:45644585 [GRCh37]
Chr14:14q21.2		 likely benign
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_020937.4(FANCM):c.523T>C (p.Ser175Pro) single nucleotide variant FANCM-related disorder [RCV004541480]|Fanconi anemia [RCV000474146]|Spermatogenic failure 28 [RCV001292816]|not provided [RCV002475907] Chr14:45137083 [GRCh38]
Chr14:45606286 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=) single nucleotide variant FANCM-related disorder [RCV004535466]|Fanconi anemia [RCV000470823]|Hereditary cancer-predisposing syndrome [RCV002257747]|Inborn genetic diseases [RCV004975550]|not provided [RCV001591121]|not specified [RCV001821347] Chr14:45176301 [GRCh38]
Chr14:45645504 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.1133G>A (p.Gly378Glu) single nucleotide variant Fanconi anemia [RCV000474819] Chr14:45154002 [GRCh38]
Chr14:45623205 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.491A>C (p.His164Pro) single nucleotide variant FANCM-related disorder [RCV004541481]|Fanconi anemia [RCV000463663]|Hereditary cancer-predisposing syndrome [RCV002256303]|not provided [RCV001555524] Chr14:45136522 [GRCh38]
Chr14:45605725 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.2268C>A (p.Arg756=) single nucleotide variant Fanconi anemia [RCV000460247]|Hereditary cancer-predisposing syndrome [RCV002256302]|Inborn genetic diseases [RCV004975548]|not provided [RCV001090528]|not specified [RCV001800695] Chr14:45173162 [GRCh38]
Chr14:45642365 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.461G>C (p.Cys154Ser) single nucleotide variant Fanconi anemia [RCV000471479]|not provided [RCV001770334] Chr14:45136492 [GRCh38]
Chr14:45605695 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) single nucleotide variant Aplastic anemia [RCV003447530]|FANCM-related disorder [RCV004535465]|Fanconi anemia [RCV000475344]|Fanconi anemia complementation group A [RCV000989208]|Hereditary cancer-predisposing syndrome [RCV002257746]|Premature ovarian failure 15 [RCV003316605]|not provided [RCV001569551]|not specified [RCV001821346] Chr14:45176050 [GRCh38]
Chr14:45645253 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn) single nucleotide variant Fanconi anemia [RCV000460410]|Spermatogenic failure 28 [RCV000763931]|not provided [RCV001785618] Chr14:45175251 [GRCh38]
Chr14:45644454 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) single nucleotide variant FANCM-related disorder [RCV004737537]|Familial cancer of breast [RCV001250424]|Fanconi anemia [RCV000456962]|Fanconi anemia complementation group A [RCV000989212]|Male infertility with spermatogenesis disorder [RCV003991578]|Premature ovarian failure 15 [RCV000678209]|Spermatogenic failure 28 [RCV000677276]|Spermatogenic failure 28 [RCV005010382]|not provided [RCV000585292] Chr14:45189123 [GRCh38]
Chr14:45658326 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_020937.4(FANCM):c.4489G>A (p.Val1497Ile) single nucleotide variant Fanconi anemia [RCV000464542]|not provided [RCV001770336] Chr14:45183876 [GRCh38]
Chr14:45653079 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn) single nucleotide variant Fanconi anemia [RCV000471894]|Inborn genetic diseases [RCV004975521]|not provided [RCV003237864] Chr14:45198765 [GRCh38]
Chr14:45667968 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.422C>T (p.Ala141Val) single nucleotide variant Fanconi anemia [RCV001321309]|Spermatogenic failure 28 [RCV002475956]|not provided [RCV000481074] Chr14:45136453 [GRCh38]
Chr14:45605656 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.219C>A (p.Gly73=) single nucleotide variant Fanconi anemia [RCV001392175] Chr14:45136250 [GRCh38]
Chr14:45605453 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) single nucleotide variant FANCM-related disorder [RCV004737525]|Fanconi anemia [RCV000465642]|Fanconi anemia, complementation group M [RCV000709952]|Hereditary cancer-predisposing syndrome [RCV002255393]|Spermatogenic failure 28 [RCV000765164]|not provided [RCV001662428] Chr14:45196400 [GRCh38]
Chr14:45665603 [GRCh37]
Chr14:14q21.2		 uncertain significance|not provided
NM_020937.4(FANCM):c.2889C>T (p.Phe963=) single nucleotide variant Fanconi anemia [RCV000469224]|Inborn genetic diseases [RCV004975549] Chr14:45175643 [GRCh38]
Chr14:45644846 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1423G>A (p.Asp475Asn) single nucleotide variant Fanconi anemia [RCV000458309] Chr14:45159122 [GRCh38]
Chr14:45628325 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr) single nucleotide variant Fanconi anemia [RCV000462412]|Inborn genetic diseases [RCV002526414]|Spermatogenic failure 28 [RCV002480396]|not provided [RCV002291631] Chr14:45154814 [GRCh38]
Chr14:45624017 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln) single nucleotide variant Fanconi anemia [RCV000525806]|Hereditary cancer-predisposing syndrome [RCV002255419]|Premature ovarian failure 15 [RCV003316648]|not provided [RCV001567966]|not specified [RCV000501507] Chr14:45188953 [GRCh38]
Chr14:45658156 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr) single nucleotide variant Fanconi anemia [RCV000539739]|Hereditary cancer-predisposing syndrome [RCV002257772]|Spermatogenic failure 28 [RCV002490832]|not provided [RCV001731725]|not specified [RCV000501870] Chr14:45189306 [GRCh38]
Chr14:45658509 [GRCh37]
Chr14:14q21.2		 likely pathogenic|uncertain significance
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly) single nucleotide variant Fanconi anemia [RCV001060197]|Spermatogenic failure 28 [RCV002481616]|not provided [RCV001564306]|not specified [RCV000499739] Chr14:45185224 [GRCh38]
Chr14:45654427 [GRCh37]
Chr14:14q21.2		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_020937.3(FANCM):c.4516-9_4516-6delCTTA deletion not specified [RCV000507818] Chr14:45185208..45185211 [GRCh38]
Chr14:45654411..45654414 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=) single nucleotide variant Fanconi anemia [RCV000554769]|Inborn genetic diseases [RCV004975639]|Spermatogenic failure 28 [RCV002506292]|not provided [RCV003478128] Chr14:45199945 [GRCh38]
Chr14:45669148 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg) single nucleotide variant Fanconi anemia [RCV000527822]|Spermatogenic failure 28 [RCV002483359]|not provided [RCV001546018] Chr14:45181671 [GRCh38]
Chr14:45650874 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.693A>G (p.Glu231=) single nucleotide variant Fanconi anemia [RCV000533211]|not provided [RCV003325490] Chr14:45140643 [GRCh38]
Chr14:45609846 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser) single nucleotide variant Fanconi anemia [RCV000630876]|Hereditary cancer-predisposing syndrome [RCV002255480]|Inborn genetic diseases [RCV002528846]|Spermatogenic failure 28 [RCV002483772]|not provided [RCV002469225] Chr14:45170744 [GRCh38]
Chr14:45639947 [GRCh37]
Chr14:14q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.231C>T (p.Thr77=) single nucleotide variant Fanconi anemia [RCV001502201]|Inborn genetic diseases [RCV004975729]|Spermatogenic failure 28 [RCV002492952]|not provided [RCV003478352] Chr14:45136262 [GRCh38]
Chr14:45605465 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4069A>G (p.Ile1357Val) single nucleotide variant Fanconi anemia [RCV000560613] Chr14:45176823 [GRCh38]
Chr14:45646026 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys) single nucleotide variant FANCM-related disorder [RCV004541644]|Fanconi anemia [RCV001088406]|not provided [RCV000538182] Chr14:45175084 [GRCh38]
Chr14:45644287 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.4222+5G>A single nucleotide variant Fanconi anemia [RCV000534526]|Spermatogenic failure 28 [RCV002476096]|not provided [RCV001557384] Chr14:45176981 [GRCh38]
Chr14:45646184 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu) single nucleotide variant Fanconi anemia [RCV000540275]|Hereditary cancer-predisposing syndrome [RCV003994000]|Spermatogenic failure 28 [RCV002490947]|not provided [RCV001090527] Chr14:45136210 [GRCh38]
Chr14:45605413 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) single nucleotide variant Fanconi anemia [RCV000536634]|Hereditary cancer [RCV003492091]|Hereditary cancer-predisposing syndrome [RCV002255431]|Spermatogenic failure 28 [RCV001293939]|Spermatogenic failure 28 [RCV005010491]|not provided [RCV001584242] Chr14:45164444 [GRCh38]
Chr14:45633647 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4951G>A (p.Glu1651Lys) single nucleotide variant Fanconi anemia [RCV000540662]|not provided [RCV003441916] Chr14:45188973 [GRCh38]
Chr14:45658176 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.572C>T (p.Pro191Leu) single nucleotide variant Fanconi anemia [RCV000533065] Chr14:45137132 [GRCh38]
Chr14:45606335 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2531A>C (p.His844Pro) single nucleotide variant not provided [RCV003328006] Chr14:45175285 [GRCh38]
Chr14:45644488 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter) single nucleotide variant Fanconi anemia [RCV000547908] Chr14:45164368 [GRCh38]
Chr14:45633571 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly) single nucleotide variant Fanconi anemia [RCV000630822]|Hereditary cancer-predisposing syndrome [RCV002257871]|Spermatogenic failure 28 [RCV001292954]|not provided [RCV001662673] Chr14:45189042 [GRCh38]
Chr14:45658245 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2258A>G (p.Asp753Gly) single nucleotide variant Fanconi anemia [RCV000630870]|not specified [RCV001821774] Chr14:45173152 [GRCh38]
Chr14:45642355 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.730C>G (p.Leu244Val) single nucleotide variant Fanconi anemia [RCV000630892] Chr14:45140680 [GRCh38]
Chr14:45609883 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5685T>C (p.Cys1895=) single nucleotide variant Fanconi anemia [RCV000631029]|Hereditary cancer-predisposing syndrome [RCV002255482]|Inborn genetic diseases [RCV004975732]|not provided [RCV001662674] Chr14:45196516 [GRCh38]
Chr14:45665719 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) single nucleotide variant Fanconi anemia [RCV000554625]|Fanconi anemia complementation group A [RCV000989207]|Premature ovarian failure 15 [RCV003338648]|Spermatogenic failure 28 [RCV000763926]|not provided [RCV001770408]|not specified [RCV001821483] Chr14:45136084 [GRCh38]
Chr14:45605287 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.5022T>C (p.Ser1674=) single nucleotide variant Fanconi anemia [RCV000555507] Chr14:45189044 [GRCh38]
Chr14:45658247 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met) single nucleotide variant Fanconi anemia [RCV000560310]|Spermatogenic failure 28 [RCV002483358]|not provided [RCV001764527] Chr14:45176263 [GRCh38]
Chr14:45645466 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3366C>A (p.Asp1122Glu) single nucleotide variant Fanconi anemia [RCV000630820]|not provided [RCV004773051] Chr14:45176120 [GRCh38]
Chr14:45645323 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1222G>C (p.Asp408His) single nucleotide variant Fanconi anemia [RCV000630878]|not provided [RCV002289919] Chr14:45154735 [GRCh38]
Chr14:45623938 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys) single nucleotide variant Fanconi anemia [RCV000630898]|Hereditary cancer-predisposing syndrome [RCV002255481]|Spermatogenic failure 28 [RCV005004284]|not provided [RCV001541811] Chr14:45136090 [GRCh38]
Chr14:45605293 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) single nucleotide variant FANCM-related disorder [RCV004737581]|Fanconi anemia [RCV000705743]|Hereditary cancer-predisposing syndrome [RCV002256327]|Spermatogenic failure 28 [RCV001293940]|Spermatogenic failure 28 [RCV005010460]|not provided [RCV000513240] Chr14:45167133 [GRCh38]
Chr14:45636336 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala) single nucleotide variant Fanconi anemia [RCV000630821]|Hereditary cancer-predisposing syndrome [RCV002258976]|Spermatogenic failure 28 [RCV001292955]|not provided [RCV001662672] Chr14:45173067 [GRCh38]
Chr14:45642270 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.254A>G (p.Tyr85Cys) single nucleotide variant Fanconi anemia [RCV000630832] Chr14:45136285 [GRCh38]
Chr14:45605488 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) single nucleotide variant Azoospermia [RCV001797115]|Familial cancer of breast [RCV001250442]|Fanconi anemia [RCV000630904]|Hereditary nonpolyposis colorectal carcinoma [RCV002245059]|Malignant germ cell tumor of ovary [RCV000722040]|Premature ovarian failure 15 [RCV004595521]|Spermatogenic failure 28 [RCV000677277]|Spermatogenic failure 28 [RCV005010605]|not provided [RCV001531186]|not specified [RCV001821777] Chr14:45198718 [GRCh38]
Chr14:45667921 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_020937.4(FANCM):c.1706G>A (p.Arg569His) single nucleotide variant Fanconi anemia [RCV000630931]|not specified [RCV001821778] Chr14:45164483 [GRCh38]
Chr14:45633686 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.625A>C (p.Lys209Gln) single nucleotide variant Fanconi anemia [RCV000630956] Chr14:45137185 [GRCh38]
Chr14:45606388 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.990A>G (p.Thr330=) single nucleotide variant Fanconi anemia [RCV000630972]|Hereditary cancer-predisposing syndrome [RCV002257872]|Inborn genetic diseases [RCV004975723]|not provided [RCV001584457] Chr14:45151468 [GRCh38]
Chr14:45620671 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys) single nucleotide variant Fanconi anemia [RCV000631000]|Hereditary breast ovarian cancer syndrome [RCV001030553]|not provided [RCV001797116] Chr14:45189048 [GRCh38]
Chr14:45658251 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2703A>G (p.Ser901=) single nucleotide variant Fanconi anemia [RCV000631008]|Inborn genetic diseases [RCV004975728] Chr14:45175457 [GRCh38]
Chr14:45644660 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val) single nucleotide variant Fanconi anemia [RCV000793822]|Hereditary cancer-predisposing syndrome [RCV002256457]|Spermatogenic failure 28 [RCV002499134]|not provided [RCV000658690] Chr14:45175206 [GRCh38]
Chr14:45644409 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg) single nucleotide variant Fanconi anemia [RCV000685450]|Spermatogenic failure 28 [RCV002485588]|not provided [RCV001756152] Chr14:45159264 [GRCh38]
Chr14:45628467 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter) single nucleotide variant Fanconi anemia [RCV000700187] Chr14:45176035 [GRCh38]
Chr14:45645238 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.1946_1958del (p.Pro649fs) deletion Spermatogenic failure 28 [RCV000677278] Chr14:45167106..45167118 [GRCh38]
Chr14:45636309..45636321 [GRCh37]
Chr14:14q21.2		 pathogenic|not provided
NM_020937.4(FANCM):c.1892A>G (p.Asp631Gly) single nucleotide variant Fanconi anemia [RCV000684986]|Inborn genetic diseases [RCV004972850] Chr14:45167053 [GRCh38]
Chr14:45636256 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4387-10A>G single nucleotide variant Spermatogenic failure 28 [RCV000677274] Chr14:45183764 [GRCh38]
Chr14:45652967 [GRCh37]
Chr14:14q21.2		 pathogenic
GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1 copy number loss not provided [RCV000683624] Chr14:35934503..47120961 [GRCh37]
Chr14:14q13.2-21.2		 pathogenic
GRCh37/hg19 14q21.2(chr14:45548350-46158043)x3 copy number gain not provided [RCV000683614] Chr14:45548350..46158043 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5396G>T (p.Arg1799Ile) single nucleotide variant Fanconi anemia [RCV000687247] Chr14:45196227 [GRCh38]
Chr14:45665430 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1009G>C (p.Ala337Pro) single nucleotide variant Fanconi anemia [RCV000699902] Chr14:45151487 [GRCh38]
Chr14:45620690 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly) single nucleotide variant Fanconi anemia [RCV000686815]|Spermatogenic failure 28 [RCV002485604]|not provided [RCV000767965] Chr14:45176485 [GRCh38]
Chr14:45645688 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser) single nucleotide variant Fanconi anemia [RCV000687158]|Hereditary breast ovarian cancer syndrome [RCV001030472]|not provided [RCV004692086]|not specified [RCV002249406] Chr14:45136455 [GRCh38]
Chr14:45605658 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val) single nucleotide variant Fanconi anemia [RCV000704496]|Hereditary cancer-predisposing syndrome [RCV002256486]|Spermatogenic failure 28 [RCV002485757]|not provided [RCV001567186] Chr14:45189163 [GRCh38]
Chr14:45658366 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2896G>C (p.Glu966Gln) single nucleotide variant Fanconi anemia [RCV000695023] Chr14:45175650 [GRCh38]
Chr14:45644853 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.11G>A (p.Arg4Gln) single nucleotide variant Fanconi anemia [RCV000693497]|not provided [RCV003329325] Chr14:45136042 [GRCh38]
Chr14:45605245 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile) single nucleotide variant Fanconi anemia [RCV000693498]|Hereditary cancer [RCV004702332]|Inborn genetic diseases [RCV004619388]|Spermatogenic failure 28 [RCV002493185]|not provided [RCV001562968] Chr14:45188981 [GRCh38]
Chr14:45658184 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NC_000014.8:g.(?_45628293)_(45628489_?)dup duplication Fanconi anemia [RCV000707921] Chr14:45159090..45159286 [GRCh38]
Chr14:45628293..45628489 [GRCh37]
Chr14:14q21.2		 likely pathogenic|uncertain significance
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp) single nucleotide variant FANCM-related disorder [RCV004737956]|Fanconi anemia [RCV000694134]|Spermatogenic failure 28 [RCV002477573]|not provided [RCV002473114] Chr14:45196327 [GRCh38]
Chr14:45665530 [GRCh37]
Chr14:14q21.2		 likely pathogenic|uncertain significance
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg) single nucleotide variant Fanconi anemia [RCV000686782]|Spermatogenic failure 28 [RCV002485603]|not provided [RCV004768557] Chr14:45136251 [GRCh38]
Chr14:45605454 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3793G>C (p.Glu1265Gln) single nucleotide variant Fanconi anemia [RCV000689856] Chr14:45176547 [GRCh38]
Chr14:45645750 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly) single nucleotide variant FANCM-related disorder [RCV004737963]|Fanconi anemia [RCV000701972]|Hereditary cancer-predisposing syndrome [RCV002256481]|Inborn genetic diseases [RCV004972887]|Spermatogenic failure 28 [RCV002477616]|not provided [RCV001564890] Chr14:45173191 [GRCh38]
Chr14:45642394 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln) single nucleotide variant Fanconi anemia [RCV001065403]|not provided [RCV000709951] Chr14:45167041 [GRCh38]
Chr14:45636244 [GRCh37]
Chr14:14q21.2		 uncertain significance|not provided
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala) single nucleotide variant FANCM-related disorder [RCV004737964]|Fanconi anemia [RCV000702489]|Spermatogenic failure 28 [RCV002485732]|not provided [RCV002473122] Chr14:45176086 [GRCh38]
Chr14:45645289 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4690A>G (p.Ile1564Val) single nucleotide variant Fanconi anemia [RCV000690517]|not provided [RCV004997157] Chr14:45187798 [GRCh38]
Chr14:45657001 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) single nucleotide variant FANCM-related disorder [RCV004535713]|Fanconi anemia [RCV000688866]|Hereditary cancer-predisposing syndrome [RCV002256466]|Spermatogenic failure 28 [RCV000763928]|Spermatogenic failure 28 [RCV001771942]|not provided [RCV001535656] Chr14:45154750 [GRCh38]
Chr14:45623953 [GRCh37]
Chr14:14q21.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu) single nucleotide variant Fanconi anemia [RCV000698336]|Hereditary breast ovarian cancer syndrome [RCV001030481]|Hereditary cancer-predisposing syndrome [RCV002256479]|Inborn genetic diseases [RCV003243265]|Premature ovarian failure 15 [RCV003446359]|Spermatogenic failure 28 [RCV002477590]|not provided [RCV001662769]|not specified [RCV001816721] Chr14:45175750 [GRCh38]
Chr14:45644953 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.656C>T (p.Ala219Val) single nucleotide variant Fanconi anemia [RCV000696591] Chr14:45137216 [GRCh38]
Chr14:45606419 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs) deletion Fanconi anemia [RCV000696857] Chr14:45196324..45196325 [GRCh38]
Chr14:45665527..45665528 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.2834G>A (p.Gly945Asp) single nucleotide variant Fanconi anemia [RCV000689063]|not provided [RCV002222604] Chr14:45175588 [GRCh38]
Chr14:45644791 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn) single nucleotide variant Fanconi anemia [RCV000703596]|Spermatogenic failure 28 [RCV002485748]|not provided [RCV001786413] Chr14:45189008 [GRCh38]
Chr14:45658211 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter) single nucleotide variant Fanconi anemia [RCV002535028]|not provided [RCV000722283] Chr14:45155398 [GRCh38]
Chr14:45624601 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.1789-173C>A single nucleotide variant not provided [RCV001571060] Chr14:45166777 [GRCh38]
Chr14:45635980 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1788+146C>T single nucleotide variant not provided [RCV001571281] Chr14:45164711 [GRCh38]
Chr14:45633914 [GRCh37]
Chr14:14q21.2		 likely benign
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q21.2(chr14:45611090-45612490)x1 copy number loss not provided [RCV000751005] Chr14:45611090..45612490 [GRCh37]
Chr14:14q21.2		 benign
GRCh37/hg19 14q21.2(chr14:45611090-45619217)x1 copy number loss not provided [RCV000751006] Chr14:45611090..45619217 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4387-7A>G single nucleotide variant not provided [RCV000874062] Chr14:45183767 [GRCh38]
Chr14:45652970 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1397-4A>G single nucleotide variant Fanconi anemia [RCV001473632]|not provided [RCV000869560] Chr14:45159092 [GRCh38]
Chr14:45628295 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1396+26G>A single nucleotide variant not provided [RCV001692769] Chr14:45155485 [GRCh38]
Chr14:45624688 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1397-12A>G single nucleotide variant Fanconi anemia [RCV002071985]|not provided [RCV001545190] Chr14:45159084 [GRCh38]
Chr14:45628287 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.918+147G>T single nucleotide variant not provided [RCV001547028] Chr14:45149142 [GRCh38]
Chr14:45618345 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5047A>T (p.Lys1683Ter) single nucleotide variant FANCM-related disorder [RCV004536195]|not provided [RCV001566575] Chr14:45189069 [GRCh38]
Chr14:45658272 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.918+291CA[11] microsatellite not provided [RCV001693195] Chr14:45149286..45149287 [GRCh38]
Chr14:45618489..45618490 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4147T>G (p.Tyr1383Asp) single nucleotide variant FANCM-related disorder [RCV004540151]|Fanconi anemia [RCV000861276]|Hereditary cancer-predisposing syndrome [RCV002256561]|not provided [RCV003478526]|not specified [RCV003151159] Chr14:45176901 [GRCh38]
Chr14:45646104 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4826_4827del (p.Asp1609fs) deletion Retinoblastoma [RCV000761170] Chr14:45188848..45188849 [GRCh38]
Chr14:45658051..45658052 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu) single nucleotide variant Fanconi anemia [RCV001043132]|Spermatogenic failure 28 [RCV002489578]|not provided [RCV004777940] Chr14:45136087 [GRCh38]
Chr14:45605290 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2110A>G (p.Thr704Ala) single nucleotide variant Fanconi anemia [RCV001043568] Chr14:45170696 [GRCh38]
Chr14:45639899 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4516-163T>C single nucleotide variant not provided [RCV001691079] Chr14:45185054 [GRCh38]
Chr14:45654257 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4717A>G (p.Met1573Val) single nucleotide variant Fanconi anemia [RCV001068338]|not provided [RCV003128746] Chr14:45187825 [GRCh38]
Chr14:45657028 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1310-194A>C single nucleotide variant not provided [RCV001571385] Chr14:45155179 [GRCh38]
Chr14:45624382 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.682-2A>G single nucleotide variant Fanconi anemia [RCV001065724] Chr14:45140630 [GRCh38]
Chr14:45609833 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.919-281G>A single nucleotide variant not provided [RCV001680171] Chr14:45151116 [GRCh38]
Chr14:45620319 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1789-154del deletion not provided [RCV001580814] Chr14:45166778 [GRCh38]
Chr14:45635981 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1677_1678del (p.Ile559fs) microsatellite Fanconi anemia [RCV001066647] Chr14:45164452..45164453 [GRCh38]
Chr14:45633655..45633656 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2444C>T (p.Ser815Leu) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030478]|Spermatogenic failure 28 [RCV002489533]|not provided [RCV004998578] Chr14:45175198 [GRCh38]
Chr14:45644401 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2696G>A (p.Arg899Lys) single nucleotide variant Fanconi anemia [RCV001862435]|Hereditary breast ovarian cancer syndrome [RCV001030480]|Inborn genetic diseases [RCV004973242] Chr14:45175450 [GRCh38]
Chr14:45644653 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4396T>A (p.Ser1466Thr) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030548] Chr14:45183783 [GRCh38]
Chr14:45652986 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5872G>T (p.Gly1958Cys) single nucleotide variant Fanconi anemia [RCV002552043]|Hereditary breast ovarian cancer syndrome [RCV001030557]|Spermatogenic failure 28 [RCV005012456] Chr14:45198799 [GRCh38]
Chr14:45668002 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys) single nucleotide variant Fanconi anemia [RCV001061433]|Fanconi anemia complementation group A [RCV000989214]|not provided [RCV001593165] Chr14:45196271 [GRCh38]
Chr14:45665474 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.869T>C (p.Ile290Thr) single nucleotide variant FANCM-related disorder [RCV004536083]|Fanconi anemia [RCV001045549]|not provided [RCV001545299] Chr14:45148946 [GRCh38]
Chr14:45618149 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5364_5367dup (p.Thr1790Ter) duplication Fanconi anemia [RCV003523100]|not provided [RCV001583258] Chr14:45196193..45196194 [GRCh38]
Chr14:45665396..45665397 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.2163T>G (p.Ala721=) single nucleotide variant Fanconi anemia [RCV003523029]|not provided [RCV004822249] Chr14:45173057 [GRCh38]
Chr14:45642260 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.6127A>C (p.Arg2043=) single nucleotide variant Fanconi anemia [RCV001484620]|Inborn genetic diseases [RCV004973133]|not provided [RCV004705863] Chr14:45199988 [GRCh38]
Chr14:45669191 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.682-7T>C single nucleotide variant Fanconi anemia [RCV000869188]|not provided [RCV003478544] Chr14:45140625 [GRCh38]
Chr14:45609828 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.717T>C (p.Phe239=) single nucleotide variant Fanconi anemia [RCV001469285] Chr14:45140667 [GRCh38]
Chr14:45609870 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4318-6C>T single nucleotide variant Fanconi anemia [RCV000924857] Chr14:45181631 [GRCh38]
Chr14:45650834 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4776G>A (p.Ser1592=) single nucleotide variant Fanconi anemia [RCV001411661]|Inborn genetic diseases [RCV004973089]|not provided [RCV000869492] Chr14:45187884 [GRCh38]
Chr14:45657087 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2406T>C (p.Asn802=) single nucleotide variant Fanconi anemia [RCV000866704]|Inborn genetic diseases [RCV004973069]|not provided [RCV001566864] Chr14:45175160 [GRCh38]
Chr14:45644363 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2988T>C (p.Tyr996=) single nucleotide variant Fanconi anemia [RCV000925963]|Inborn genetic diseases [RCV004973173]|not provided [RCV003332271] Chr14:45175742 [GRCh38]
Chr14:45644945 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2616C>T (p.His872=) single nucleotide variant Fanconi anemia [RCV001478082]|Inborn genetic diseases [RCV004973084]|not provided [RCV003992412] Chr14:45175370 [GRCh38]
Chr14:45644573 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2925A>G (p.Gln975=) single nucleotide variant Fanconi anemia [RCV001475169] Chr14:45175679 [GRCh38]
Chr14:45644882 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5661G>A (p.Leu1887=) single nucleotide variant Fanconi anemia [RCV001429578] Chr14:45196492 [GRCh38]
Chr14:45665695 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3432C>T (p.Phe1144=) single nucleotide variant Fanconi anemia [RCV000870314]|Hereditary cancer-predisposing syndrome [RCV002256572]|Inborn genetic diseases [RCV004973096] Chr14:45176186 [GRCh38]
Chr14:45645389 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1200A>G (p.Lys400=) single nucleotide variant Fanconi anemia [RCV000867142]|not provided [RCV003478536] Chr14:45154713 [GRCh38]
Chr14:45623916 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2721T>G (p.Ala907=) single nucleotide variant Fanconi anemia [RCV000863406]|Spermatogenic failure 28 [RCV002478957]|not provided [RCV003456440] Chr14:45175475 [GRCh38]
Chr14:45644678 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5154G>A (p.Val1718=) single nucleotide variant Fanconi anemia [RCV001433633] Chr14:45189176 [GRCh38]
Chr14:45658379 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3435C>T (p.Asp1145=) single nucleotide variant Fanconi anemia [RCV000864535]|Inborn genetic diseases [RCV004973050] Chr14:45176189 [GRCh38]
Chr14:45645392 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4860A>G (p.Glu1620=) single nucleotide variant Fanconi anemia [RCV001480374] Chr14:45188882 [GRCh38]
Chr14:45658085 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.159C>T (p.Asp53=) single nucleotide variant FANCM-related disorder [RCV004540195]|Fanconi anemia [RCV000866205]|Inborn genetic diseases [RCV004973065]|Spermatogenic failure 28 [RCV002478967]|not provided [RCV001577827] Chr14:45136190 [GRCh38]
Chr14:45605393 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1616C>T (p.Thr539Met) single nucleotide variant Fanconi anemia [RCV001038426]|Hereditary cancer-predisposing syndrome [RCV002256648]|Spermatogenic failure 28 [RCV005004990]|not provided [RCV004998586] Chr14:45164393 [GRCh38]
Chr14:45633596 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.946A>G (p.Ile316Val) single nucleotide variant Fanconi anemia [RCV001054890] Chr14:45151424 [GRCh38]
Chr14:45620627 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2750T>C (p.Ile917Thr) single nucleotide variant Fanconi anemia [RCV001036933] Chr14:45175504 [GRCh38]
Chr14:45644707 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val) single nucleotide variant Fanconi anemia [RCV001061388]|Spermatogenic failure 28 [RCV002489670]|not provided [RCV004761912] Chr14:45196412 [GRCh38]
Chr14:45665615 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3356A>G (p.Asp1119Gly) single nucleotide variant not provided [RCV002280476] Chr14:45176110 [GRCh38]
Chr14:45645313 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5613G>A (p.Met1871Ile) single nucleotide variant Fanconi anemia [RCV001055319] Chr14:45196444 [GRCh38]
Chr14:45665647 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del) deletion Fanconi anemia [RCV001049348]|Spermatogenic failure 28 [RCV002479304]|not specified [RCV001819764] Chr14:45164433..45164435 [GRCh38]
Chr14:45633636..45633638 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4545A>T (p.Glu1515Asp) single nucleotide variant Fanconi anemia [RCV001049412] Chr14:45185246 [GRCh38]
Chr14:45654449 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5747A>G (p.Lys1916Arg) single nucleotide variant Fanconi anemia [RCV001041308] Chr14:45198674 [GRCh38]
Chr14:45667877 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1127A>G (p.Gln376Arg) single nucleotide variant Fanconi anemia [RCV001061615]|not provided [RCV004812380] Chr14:45153996 [GRCh38]
Chr14:45623199 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly) single nucleotide variant Fanconi anemia [RCV001046740]|Inborn genetic diseases [RCV003353109]|Spermatogenic failure 28 [RCV002479170]|not provided [RCV000995173] Chr14:45185266 [GRCh38]
Chr14:45654469 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4343C>T (p.Ser1448Phe) single nucleotide variant Fanconi anemia [RCV001041573]|not provided [RCV003478671] Chr14:45181662 [GRCh38]
Chr14:45650865 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.83G>T (p.Gly28Val) single nucleotide variant Fanconi anemia [RCV001043507]|Spermatogenic failure 28 [RCV002481905] Chr14:45136114 [GRCh38]
Chr14:45605317 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.759+2dup duplication Fanconi anemia [RCV001043512] Chr14:45140710..45140711 [GRCh38]
Chr14:45609913..45609914 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu) single nucleotide variant Fanconi anemia [RCV001061811]|Inborn genetic diseases [RCV004030436]|Spermatogenic failure 28 [RCV002479364]|not provided [RCV004726851] Chr14:45176941 [GRCh38]
Chr14:45646144 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2723C>G (p.Ala908Gly) single nucleotide variant Fanconi anemia [RCV001061884] Chr14:45175477 [GRCh38]
Chr14:45644680 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter) single nucleotide variant Fanconi anemia [RCV001041845] Chr14:45196478 [GRCh38]
Chr14:45665681 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2852A>G (p.Asp951Gly) single nucleotide variant Fanconi anemia [RCV001061917]|not provided [RCV004761914] Chr14:45175606 [GRCh38]
Chr14:45644809 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser) single nucleotide variant Fanconi anemia [RCV001062033]|Spermatogenic failure 28 [RCV002497447] Chr14:45153960 [GRCh38]
Chr14:45623163 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.447_448delinsAG (p.Gln150Glu) indel Fanconi anemia [RCV001047859] Chr14:45136478..45136479 [GRCh38]
Chr14:45605681..45605682 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6129A>T (p.Arg2043Ser) single nucleotide variant Fanconi anemia [RCV001071387]|Hereditary cancer-predisposing syndrome [RCV002258130]|not provided [RCV001760055]|not specified [RCV003151281] Chr14:45199990 [GRCh38]
Chr14:45669193 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.708_714del (p.Asn237fs) deletion Fanconi anemia [RCV001039182] Chr14:45140656..45140662 [GRCh38]
Chr14:45609859..45609865 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3763C>A (p.Pro1255Thr) single nucleotide variant Fanconi anemia [RCV001042003]|Spermatogenic failure 28 [RCV005012472] Chr14:45176517 [GRCh38]
Chr14:45645720 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.242C>T (p.Ala81Val) single nucleotide variant FANCM-related disorder [RCV004738137]|Fanconi anemia [RCV001053782]|Spermatogenic failure 28 [RCV005005009]|not provided [RCV001786429] Chr14:45136273 [GRCh38]
Chr14:45605476 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.5434C>A (p.Pro1812Thr) single nucleotide variant Fanconi anemia [RCV001042406]|Hereditary cancer-predisposing syndrome [RCV002256651]|not provided [RCV001664637]|not specified [RCV003151270] Chr14:45196265 [GRCh38]
Chr14:45665468 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3586C>T (p.Arg1196Cys) single nucleotide variant Fanconi anemia [RCV001059120]|not provided [RCV003332293] Chr14:45176340 [GRCh38]
Chr14:45645543 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.998A>G (p.Gln333Arg) single nucleotide variant Fanconi anemia [RCV001051799]|not provided [RCV001786428] Chr14:45151476 [GRCh38]
Chr14:45620679 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp) single nucleotide variant Fanconi anemia [RCV001038475]|Hereditary cancer-predisposing syndrome [RCV002258093]|Spermatogenic failure 28 [RCV002489553]|not provided [RCV001779105]|not specified [RCV001819744] Chr14:45189129 [GRCh38]
Chr14:45658332 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2602A>G (p.Lys868Glu) single nucleotide variant Fanconi anemia [RCV001042514]|Inborn genetic diseases [RCV004973270] Chr14:45175356 [GRCh38]
Chr14:45644559 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met) single nucleotide variant Fanconi anemia [RCV001042572]|Spermatogenic failure 28 [RCV002497374]|not provided [RCV001555787] Chr14:45159249 [GRCh38]
Chr14:45628452 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter) single nucleotide variant Fanconi anemia [RCV001042509]|not provided [RCV003117717] Chr14:45159131 [GRCh38]
Chr14:45628334 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.1566G>T (p.Gln522His) single nucleotide variant Fanconi anemia [RCV001052301]|not provided [RCV001799726] Chr14:45159265 [GRCh38]
Chr14:45628468 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln) single nucleotide variant Fanconi anemia [RCV001068530]|Spermatogenic failure 28 [RCV002480431] Chr14:45173155 [GRCh38]
Chr14:45642358 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys) single nucleotide variant FANCM-related disorder [RCV004536077]|Fanconi anemia [RCV001042892]|Spermatogenic failure 28 [RCV002479271]|not provided [RCV002245840] Chr14:45175644 [GRCh38]
Chr14:45644847 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu) single nucleotide variant Fanconi anemia [RCV001047104]|Inborn genetic diseases [RCV003363071]|Spermatogenic failure 28 [RCV002489597]|not provided [RCV003151830] Chr14:45175561 [GRCh38]
Chr14:45644764 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg) single nucleotide variant Fanconi anemia [RCV001038271]|Inborn genetic diseases [RCV002551411]|Spermatogenic failure 28 [RCV002505560]|not provided [RCV002479246] Chr14:45176608 [GRCh38]
Chr14:45645811 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4820G>T (p.Cys1607Phe) single nucleotide variant Fanconi anemia [RCV001060430] Chr14:45188842 [GRCh38]
Chr14:45658045 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5155C>T (p.Arg1719Cys) single nucleotide variant Fanconi anemia [RCV001060450] Chr14:45189177 [GRCh38]
Chr14:45658380 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.565C>G (p.Leu189Val) single nucleotide variant Fanconi anemia [RCV001050591]|not provided [RCV001772253] Chr14:45137125 [GRCh38]
Chr14:45606328 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2058A>C (p.Lys686Asn) single nucleotide variant Fanconi anemia [RCV001036378] Chr14:45170644 [GRCh38]
Chr14:45639847 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3089G>A (p.Arg1030Gln) single nucleotide variant Fanconi anemia [RCV001054266]|not provided [RCV003329372] Chr14:45175843 [GRCh38]
Chr14:45645046 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3919T>C (p.Tyr1307His) single nucleotide variant Fanconi anemia [RCV001057607] Chr14:45176673 [GRCh38]
Chr14:45645876 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys) single nucleotide variant FANCM-related disorder [RCV004536064]|Fanconi anemia [RCV001036562]|Hereditary cancer-predisposing syndrome [RCV002255606]|Spermatogenic failure 28 [RCV002481857]|not provided [RCV001819740] Chr14:45187816 [GRCh38]
Chr14:45657019 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1654A>G (p.Ile552Val) single nucleotide variant Fanconi anemia [RCV001050894] Chr14:45164431 [GRCh38]
Chr14:45633634 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1366G>A (p.Val456Ile) single nucleotide variant Fanconi anemia [RCV000810362]|not provided [RCV002462173] Chr14:45155429 [GRCh38]
Chr14:45624632 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3148G>T (p.Glu1050Ter) single nucleotide variant Neoplasm of ovary [RCV000785572] Chr14:45175902 [GRCh38]
Chr14:45645105 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr) single nucleotide variant Fanconi anemia [RCV000802641]|Spermatogenic failure 28 [RCV002485980]|not provided [RCV000767966] Chr14:45176880 [GRCh38]
Chr14:45646083 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4162C>T (p.Leu1388=) single nucleotide variant Fanconi anemia [RCV001461625] Chr14:45176916 [GRCh38]
Chr14:45646119 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1183+8A>G single nucleotide variant Fanconi anemia [RCV000867600]|not provided [RCV003478538] Chr14:45154060 [GRCh38]
Chr14:45623263 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.5717-10G>T single nucleotide variant Fanconi anemia [RCV001396586] Chr14:45198634 [GRCh38]
Chr14:45667837 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2745T>C (p.Asn915=) single nucleotide variant FANCM-related disorder [RCV004538305]|Fanconi anemia [RCV000871640] Chr14:45175499 [GRCh38]
Chr14:45644702 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1941T>C (p.Tyr647=) single nucleotide variant Fanconi anemia [RCV000876893]|Inborn genetic diseases [RCV004973128] Chr14:45167102 [GRCh38]
Chr14:45636305 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1183+9T>C single nucleotide variant Fanconi anemia [RCV000877447] Chr14:45154061 [GRCh38]
Chr14:45623264 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5436G>T (p.Pro1812=) single nucleotide variant Fanconi anemia [RCV000878839] Chr14:45196267 [GRCh38]
Chr14:45665470 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2127G>A (p.Gln709=) single nucleotide variant FANCM-related disorder [RCV004540160]|Fanconi anemia [RCV000862108]|Inborn genetic diseases [RCV004973035]|not provided [RCV001562805] Chr14:45170713 [GRCh38]
Chr14:45639916 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4284A>G (p.Lys1428=) single nucleotide variant not provided [RCV000981008] Chr14:45181491 [GRCh38]
Chr14:45650694 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4410G>C (p.Glu1470Asp) single nucleotide variant Fanconi anemia [RCV000872232]|Inborn genetic diseases [RCV004973109]|not provided [RCV001557182] Chr14:45183797 [GRCh38]
Chr14:45653000 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.525C>T (p.Ser175=) single nucleotide variant Fanconi anemia [RCV000873451] Chr14:45137085 [GRCh38]
Chr14:45606288 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3075T>C (p.Cys1025=) single nucleotide variant Fanconi anemia [RCV000982925] Chr14:45175829 [GRCh38]
Chr14:45645032 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.996T>C (p.Tyr332=) single nucleotide variant Fanconi anemia [RCV000951708]|Inborn genetic diseases [RCV004973199]|not provided [RCV003478595] Chr14:45151474 [GRCh38]
Chr14:45620677 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=) single nucleotide variant Fanconi anemia [RCV001439377]|Inborn genetic diseases [RCV004973071]|Spermatogenic failure 28 [RCV002507495]|not provided [RCV003478535] Chr14:45176591 [GRCh38]
Chr14:45645794 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3909G>A (p.Gln1303=) single nucleotide variant Fanconi anemia [RCV000872561]|not provided [RCV003478555] Chr14:45176663 [GRCh38]
Chr14:45645866 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4023C>G (p.Leu1341=) single nucleotide variant Fanconi anemia [RCV001430612] Chr14:45176777 [GRCh38]
Chr14:45645980 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3510G>A (p.Thr1170=) single nucleotide variant Fanconi anemia [RCV001435313]|Inborn genetic diseases [RCV004973040]|not provided [RCV000862664] Chr14:45176264 [GRCh38]
Chr14:45645467 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6065T>G (p.Ile2022Ser) single nucleotide variant Fanconi anemia [RCV001944912] Chr14:45199926 [GRCh38]
Chr14:45669129 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp) single nucleotide variant Fanconi anemia [RCV000804377]|not provided [RCV003238230] Chr14:45188869 [GRCh38]
Chr14:45658072 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.93A>G (p.Arg31=) single nucleotide variant Fanconi anemia [RCV000871220]|Inborn genetic diseases [RCV004973102]|Spermatogenic failure 28 [RCV002487913] Chr14:45136124 [GRCh38]
Chr14:45605327 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2653A>G (p.Thr885Ala) single nucleotide variant Fanconi anemia [RCV000793520] Chr14:45175407 [GRCh38]
Chr14:45644610 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys) single nucleotide variant FANCM-related disorder [RCV004538127]|Fanconi anemia [RCV000820891]|Spermatogenic failure 28 [RCV002487835]|not provided [RCV001574713]|not specified [RCV001816906] Chr14:45164374 [GRCh38]
Chr14:45633577 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His) single nucleotide variant Fanconi anemia [RCV000815706]|Hereditary cancer [RCV004702449]|Spermatogenic failure 28 [RCV002487794]|not provided [RCV002307626] Chr14:45188956 [GRCh38]
Chr14:45658159 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4132A>C (p.Asn1378His) single nucleotide variant Fanconi anemia [RCV000814472] Chr14:45176886 [GRCh38]
Chr14:45646089 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2723C>T (p.Ala908Val) single nucleotide variant Fanconi anemia [RCV000796832]|not provided [RCV004723189] Chr14:45175477 [GRCh38]
Chr14:45644680 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.985C>G (p.Leu329Val) single nucleotide variant Fanconi anemia [RCV000796855]|Inborn genetic diseases [RCV004972958]|Spermatogenic failure 28 [RCV005012322]|not provided [RCV003478494] Chr14:45151463 [GRCh38]
Chr14:45620666 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe) single nucleotide variant FANCM-related disorder [RCV004738020]|Fanconi anemia [RCV000813255]|Spermatogenic failure 28 [RCV002487776]|not provided [RCV002245684] Chr14:45176412 [GRCh38]
Chr14:45645615 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val) single nucleotide variant FANCM-related disorder [RCV004527824]|Fanconi anemia [RCV000801107]|Spermatogenic failure 28 [RCV002501071]|not provided [RCV001772067] Chr14:45176253 [GRCh38]
Chr14:45645456 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5603A>G (p.Gln1868Arg) single nucleotide variant Fanconi anemia [RCV000804720]|not provided [RCV004721618] Chr14:45196434 [GRCh38]
Chr14:45665637 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr) single nucleotide variant Fanconi anemia [RCV000797993]|Spermatogenic failure 28 [RCV002477822]|not provided [RCV001662823] Chr14:45189139 [GRCh38]
Chr14:45658342 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5359G>T (p.Asp1787Tyr) single nucleotide variant Fanconi anemia [RCV000799498] Chr14:45196190 [GRCh38]
Chr14:45665393 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.950A>G (p.Gln317Arg) single nucleotide variant Fanconi anemia [RCV000804748]|not provided [RCV001772080] Chr14:45151428 [GRCh38]
Chr14:45620631 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe) single nucleotide variant FANCM-related disorder [RCV004538129]|Fanconi anemia [RCV000823317]|Inborn genetic diseases [RCV002535981]|Spermatogenic failure 28 [RCV001293944]|Spermatogenic failure 28 [RCV002478929]|not provided [RCV001772139] Chr14:45175563 [GRCh38]
Chr14:45644766 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.808C>T (p.Arg270Cys) single nucleotide variant Fanconi anemia [RCV000823328]|Spermatogenic failure 28 [RCV005004452]|not provided [RCV001593019] Chr14:45148885 [GRCh38]
Chr14:45618088 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.9:g.(?_45198634)_(45200018_?)del deletion Fanconi anemia [RCV000792791] Chr14:45198634..45200018 [GRCh38]
Chr14:45667837..45669221 [GRCh37]
Chr14:14q21.2		 likely pathogenic|uncertain significance
NM_020937.4(FANCM):c.2302A>G (p.Met768Val) single nucleotide variant Fanconi anemia [RCV000799638]|not provided [RCV001535450] Chr14:45173196 [GRCh38]
Chr14:45642399 [GRCh37]
Chr14:14q21.2		 uncertain significance|not provided
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln) single nucleotide variant Fanconi anemia [RCV000804844]|Spermatogenic failure 28 [RCV002487719] Chr14:45167134 [GRCh38]
Chr14:45636337 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4653A>G (p.Gln1551=) single nucleotide variant not provided [RCV000870777] Chr14:45185354 [GRCh38]
Chr14:45654557 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2096A>G (p.Glu699Gly) single nucleotide variant Fanconi anemia [RCV000816266] Chr14:45170682 [GRCh38]
Chr14:45639885 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter) single nucleotide variant Fanconi anemia [RCV000807702] Chr14:45154011 [GRCh38]
Chr14:45623214 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His) single nucleotide variant Fanconi anemia [RCV000816350]|Spermatogenic failure 28 [RCV002507426]|not provided [RCV003238240] Chr14:45176341 [GRCh38]
Chr14:45645544 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1271G>A (p.Arg424His) single nucleotide variant FANCM-related disorder [RCV003221306]|Fanconi anemia [RCV000819671]|Spermatogenic failure 28 [RCV002487825]|not provided [RCV001772132] Chr14:45154784 [GRCh38]
Chr14:45623987 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3363T>G (p.Ser1121Arg) single nucleotide variant Fanconi anemia [RCV000794746]|not provided [RCV004822201] Chr14:45176117 [GRCh38]
Chr14:45645320 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu) single nucleotide variant Fanconi anemia [RCV000794853]|Spermatogenic failure 28 [RCV002477806]|not provided [RCV004997326] Chr14:45175837 [GRCh38]
Chr14:45645040 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.668A>G (p.Tyr223Cys) single nucleotide variant Fanconi anemia [RCV000806670] Chr14:45137228 [GRCh38]
Chr14:45606431 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.9:g.(?_45153910)_(45200018_?)del deletion Fanconi anemia [RCV000792147] Chr14:45153910..45200018 [GRCh38]
Chr14:45623113..45669221 [GRCh37]
Chr14:14q21.2		 likely pathogenic|uncertain significance
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg) single nucleotide variant Fanconi anemia [RCV000821572]|Inborn genetic diseases [RCV004973014]|Spermatogenic failure 28 [RCV002501138]|not provided [RCV002255169] Chr14:45189307 [GRCh38]
Chr14:45658510 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2234C>G (p.Pro745Arg) single nucleotide variant Fanconi anemia [RCV000800073]|not provided [RCV003478498] Chr14:45173128 [GRCh38]
Chr14:45642331 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3965C>T (p.Ser1322Phe) single nucleotide variant Fanconi anemia [RCV000805279] Chr14:45176719 [GRCh38]
Chr14:45645922 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45605225)_(45609922_?)dup duplication Fanconi anemia [RCV000798154] Chr14:45136022..45140719 [GRCh38]
Chr14:45605225..45609922 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2608A>G (p.Asn870Asp) single nucleotide variant Fanconi anemia [RCV000801870]|not provided [RCV001766662] Chr14:45175362 [GRCh38]
Chr14:45644565 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp) single nucleotide variant Fanconi anemia [RCV000820042]|Spermatogenic failure 28 [RCV002495169]|not provided [RCV001357735] Chr14:45175212 [GRCh38]
Chr14:45644415 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3746C>A (p.Thr1249Lys) single nucleotide variant Fanconi anemia [RCV000803682]|not provided [RCV003478504] Chr14:45176500 [GRCh38]
Chr14:45645703 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2201_2202dup (p.Glu735fs) microsatellite Hereditary breast ovarian cancer syndrome [RCV001030475] Chr14:45173084..45173085 [GRCh38]
Chr14:45642287..45642288 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.5072A>G (p.Asn1691Ser) single nucleotide variant Fanconi anemia [RCV000807517] Chr14:45189094 [GRCh38]
Chr14:45658297 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.538A>G (p.Ile180Val) single nucleotide variant Fanconi anemia [RCV000812380]|Hereditary cancer-predisposing syndrome [RCV002257979]|not provided [RCV001772099] Chr14:45137098 [GRCh38]
Chr14:45606301 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) single nucleotide variant Fanconi anemia [RCV000791646]|Inborn genetic diseases [RCV003344043]|Spermatogenic failure 28 [RCV002487632]|not provided [RCV000995171] Chr14:45159110 [GRCh38]
Chr14:45628313 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg) single nucleotide variant Fanconi anemia [RCV000808664]|Inborn genetic diseases [RCV004028650]|Spermatogenic failure 28 [RCV002478877]|not provided [RCV003148869] Chr14:45175227 [GRCh38]
Chr14:45644430 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2624T>C (p.Ile875Thr) single nucleotide variant Fanconi anemia [RCV000808857]|not provided [RCV002307623] Chr14:45175378 [GRCh38]
Chr14:45644581 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.866T>C (p.Leu289Pro) single nucleotide variant Fanconi anemia [RCV000811567] Chr14:45148943 [GRCh38]
Chr14:45618146 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5046T>G (p.Asp1682Glu) single nucleotide variant Fanconi anemia [RCV000803843] Chr14:45189068 [GRCh38]
Chr14:45658271 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.925G>A (p.Glu309Lys) single nucleotide variant Fanconi anemia [RCV000803869] Chr14:45151403 [GRCh38]
Chr14:45620606 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1786C>T (p.Arg596Cys) single nucleotide variant Fanconi anemia [RCV000805615]|Inborn genetic diseases [RCV003353037]|not provided [RCV004797876] Chr14:45164563 [GRCh38]
Chr14:45633766 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2310C>T (p.His770=) single nucleotide variant Fanconi anemia [RCV000871543]|Inborn genetic diseases [RCV004973105]|not provided [RCV003478549] Chr14:45173204 [GRCh38]
Chr14:45642407 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1395T>G (p.Asn465Lys) single nucleotide variant Fanconi anemia [RCV000796213] Chr14:45155458 [GRCh38]
Chr14:45624661 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3777A>G (p.Leu1259=) single nucleotide variant Fanconi anemia [RCV000820372] Chr14:45176531 [GRCh38]
Chr14:45645734 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1530C>T (p.Gly510=) single nucleotide variant Fanconi anemia [RCV000960356]|Inborn genetic diseases [RCV004973205]|Spermatogenic failure 28 [RCV002489350] Chr14:45159229 [GRCh38]
Chr14:45628432 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg) single nucleotide variant FANCM-related disorder [RCV004738007]|Fanconi anemia [RCV000792201]|Spermatogenic failure 28 [RCV002493442]|not provided [RCV003238216] Chr14:45196514 [GRCh38]
Chr14:45665717 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln) single nucleotide variant Fanconi anemia [RCV000809258]|Hereditary cancer-predisposing syndrome [RCV002259023]|Spermatogenic failure 28 [RCV005004441]|not provided [RCV003151815] Chr14:45154706 [GRCh38]
Chr14:45623909 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4884C>A (p.Asn1628Lys) single nucleotide variant Fanconi anemia [RCV000809290]|not provided [RCV002510982] Chr14:45188906 [GRCh38]
Chr14:45658109 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3103A>C (p.Thr1035Pro) single nucleotide variant Fanconi anemia [RCV000795652] Chr14:45175857 [GRCh38]
Chr14:45645060 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3247T>C (p.Cys1083Arg) single nucleotide variant Fanconi anemia [RCV000817089]|not provided [RCV001772122] Chr14:45176001 [GRCh38]
Chr14:45645204 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.122C>T (p.Pro41Leu) single nucleotide variant Fanconi anemia [RCV000792578]|Inborn genetic diseases [RCV004972947] Chr14:45136153 [GRCh38]
Chr14:45605356 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4387-5_4387-3del microsatellite Fanconi anemia [RCV000808025] Chr14:45183764..45183766 [GRCh38]
Chr14:45652967..45652969 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3868A>G (p.Thr1290Ala) single nucleotide variant Fanconi anemia [RCV000809486]|Inborn genetic diseases [RCV004972986]|not provided [RCV003222137] Chr14:45176622 [GRCh38]
Chr14:45645825 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala) single nucleotide variant Fanconi anemia [RCV000812483]|Spermatogenic failure 28 [RCV002501107]|not provided [RCV001772100] Chr14:45189303 [GRCh38]
Chr14:45658506 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn) single nucleotide variant FANCM-related disorder [RCV004538115]|Fanconi anemia [RCV000813369]|Hereditary cancer-predisposing syndrome [RCV002257981]|Spermatogenic failure 28 [RCV002507421]|not provided [RCV001593006] Chr14:45136194 [GRCh38]
Chr14:45605397 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4574A>G (p.Tyr1525Cys) single nucleotide variant Fanconi anemia [RCV000797014] Chr14:45185275 [GRCh38]
Chr14:45654478 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.865C>G (p.Leu289Val) single nucleotide variant Fanconi anemia [RCV000803232] Chr14:45148942 [GRCh38]
Chr14:45618145 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3373G>C (p.Val1125Leu) single nucleotide variant Fanconi anemia [RCV000815832] Chr14:45176127 [GRCh38]
Chr14:45645330 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5927A>G (p.Tyr1976Cys) single nucleotide variant Fanconi anemia [RCV000799477]|not provided [RCV004789197] Chr14:45198854 [GRCh38]
Chr14:45668057 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu) single nucleotide variant Fanconi anemia [RCV000812710]|Spermatogenic failure 28 [RCV002507417]|not provided [RCV001568882] Chr14:45176581 [GRCh38]
Chr14:45645784 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2284A>G (p.Met762Val) single nucleotide variant Fanconi anemia [RCV000812737] Chr14:45173178 [GRCh38]
Chr14:45642381 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5340+1G>T single nucleotide variant Fanconi anemia [RCV000816054]|not provided [RCV003228996] Chr14:45189363 [GRCh38]
Chr14:45658566 [GRCh37]
Chr14:14q21.2		 likely pathogenic|uncertain significance
NC_000014.9:g.(?_45166940)_(45167173_?)del deletion Fanconi anemia [RCV000817945] Chr14:45166940..45167173 [GRCh38]
Chr14:45636143..45636376 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.775A>G (p.Ile259Val) single nucleotide variant Fanconi anemia [RCV000799839]|Spermatogenic failure 28 [RCV002487684]|not provided [RCV001585725] Chr14:45148852 [GRCh38]
Chr14:45618055 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2903A>G (p.Tyr968Cys) single nucleotide variant Fanconi anemia [RCV000800281]|not provided [RCV003235402] Chr14:45175657 [GRCh38]
Chr14:45644860 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2881C>T (p.Leu961Phe) single nucleotide variant Fanconi anemia [RCV000823024]|Inborn genetic diseases [RCV004973019]|not provided [RCV001766750] Chr14:45175635 [GRCh38]
Chr14:45644838 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.504G>C (p.Met168Ile) single nucleotide variant FANCM-related disorder [RCV004538123]|Fanconi anemia [RCV000817464]|Hereditary cancer-predisposing syndrome [RCV002256545]|Spermatogenic failure 28 [RCV002501126]|not provided [RCV002284444] Chr14:45136535 [GRCh38]
Chr14:45605738 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5855A>G (p.Glu1952Gly) single nucleotide variant Fanconi anemia [RCV000797330]|Hereditary cancer-predisposing syndrome [RCV002257958]|Spermatogenic failure 28 [RCV005004430]|not provided [RCV004997331] Chr14:45198782 [GRCh38]
Chr14:45667985 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4851_5340+602del deletion Neoplasm of ovary [RCV000785390] Chr14:45188873..45189964 [GRCh38]
Chr14:45658076..45659167 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4003_4004insG (p.Lys1335fs) insertion Fanconi anemia [RCV001941668] Chr14:45176757..45176758 [GRCh38]
Chr14:45645960..45645961 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2344G>T (p.Glu782Ter) single nucleotide variant Neoplasm of ovary [RCV000785570] Chr14:45175098 [GRCh38]
Chr14:45644301 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4727A>G (p.Asn1576Ser) single nucleotide variant Fanconi anemia [RCV000797565]|Spermatogenic failure 28 [RCV005012323]|not provided [RCV001766648] Chr14:45187835 [GRCh38]
Chr14:45657038 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1131G>A (p.Met377Ile) single nucleotide variant Fanconi anemia [RCV000797719]|not provided [RCV003232104] Chr14:45154000 [GRCh38]
Chr14:45623203 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter) single nucleotide variant Fanconi anemia [RCV000814158]|not provided [RCV003992401] Chr14:45166959 [GRCh38]
Chr14:45636162 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.544T>A (p.Cys182Ser) single nucleotide variant Fanconi anemia [RCV000824043] Chr14:45137104 [GRCh38]
Chr14:45606307 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3104C>A (p.Thr1035Asn) single nucleotide variant Fanconi anemia [RCV000821502]|not provided [RCV003235412] Chr14:45175858 [GRCh38]
Chr14:45645061 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) single nucleotide variant Fanconi anemia [RCV000818486]|Hereditary cancer [RCV003492178]|Spermatogenic failure 28 [RCV002507433]|not provided [RCV001731943] Chr14:45198775 [GRCh38]
Chr14:45667978 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1316A>C (p.Lys439Thr) single nucleotide variant Fanconi anemia [RCV000805398]|not provided [RCV003128727] Chr14:45155379 [GRCh38]
Chr14:45624582 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val) single nucleotide variant Fanconi anemia complementation group A [RCV000989213] Chr14:45196184 [GRCh38]
Chr14:45665387 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His) single nucleotide variant Fanconi anemia [RCV000802458]|Inborn genetic diseases [RCV002534708]|Spermatogenic failure 28 [RCV002487701]|not provided [RCV003238815] Chr14:45176279 [GRCh38]
Chr14:45645482 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3556A>G (p.Asn1186Asp) single nucleotide variant Fanconi anemia [RCV000809948] Chr14:45176310 [GRCh38]
Chr14:45645513 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1440G>C (p.Met480Ile) single nucleotide variant Fanconi anemia [RCV000810761] Chr14:45159139 [GRCh38]
Chr14:45628342 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala) single nucleotide variant Fanconi anemia [RCV000812167]|Spermatogenic failure 28 [RCV002495133]|not provided [RCV001551936] Chr14:45148951 [GRCh38]
Chr14:45618154 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4378A>C (p.Ile1460Leu) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030483]|Spermatogenic failure 28 [RCV002481845] Chr14:45181697 [GRCh38]
Chr14:45650900 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4771T>A (p.Phe1591Ile) single nucleotide variant Fanconi anemia [RCV001873431]|Hereditary breast ovarian cancer syndrome [RCV001030550]|Spermatogenic failure 28 [RCV005012455]|not provided [RCV004773239] Chr14:45187879 [GRCh38]
Chr14:45657082 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6008+1G>A single nucleotide variant Fanconi anemia [RCV002552044]|Hereditary breast ovarian cancer syndrome [RCV001030558] Chr14:45198936 [GRCh38]
Chr14:45668139 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4936G>C (p.Ala1646Pro) single nucleotide variant Fanconi anemia [RCV000812205] Chr14:45188958 [GRCh38]
Chr14:45658161 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4619C>T (p.Ser1540Phe) single nucleotide variant Fanconi anemia [RCV001045911] Chr14:45185320 [GRCh38]
Chr14:45654523 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1395T>C (p.Asn465=) single nucleotide variant Fanconi anemia [RCV001046656] Chr14:45155458 [GRCh38]
Chr14:45624661 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys) single nucleotide variant Fanconi anemia [RCV000794041]|Inborn genetic diseases [RCV003362941]|Spermatogenic failure 28 [RCV002477804]|not provided [RCV001585713]|not specified [RCV001816846] Chr14:45175989 [GRCh38]
Chr14:45645192 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.684T>G (p.Val228=) single nucleotide variant Fanconi anemia [RCV001069054] Chr14:45140634 [GRCh38]
Chr14:45609837 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3763C>T (p.Pro1255Ser) single nucleotide variant Fanconi anemia [RCV000796306]|not provided [RCV001766641] Chr14:45176517 [GRCh38]
Chr14:45645720 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.3:c.(5716+1_5717-1)_(*1_?)del deletion Neoplasm of ovary [RCV000785191] Chr14:14q21.2 pathogenic
NM_020937.4(FANCM):c.385T>C (p.Tyr129His) single nucleotide variant Fanconi anemia [RCV000811187] Chr14:45136416 [GRCh38]
Chr14:45605619 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.179C>T (p.Ala60Val) single nucleotide variant Fanconi anemia [RCV001044029]|not provided [RCV001772239] Chr14:45136210 [GRCh38]
Chr14:45605413 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) single nucleotide variant Fanconi anemia [RCV000809180]|Hereditary cancer [RCV003492175]|Hereditary cancer-predisposing syndrome [RCV002259022]|Spermatogenic failure 28 [RCV002495113]|not provided [RCV001664428]|not specified [RCV001816879] Chr14:45198759 [GRCh38]
Chr14:45667962 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.5579G>A (p.Arg1860His) single nucleotide variant Fanconi anemia [RCV000795777]|Spermatogenic failure 28 [RCV005012321]|not provided [RCV001585715] Chr14:45196410 [GRCh38]
Chr14:45665613 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys) single nucleotide variant Fanconi anemia [RCV000818077]|Spermatogenic failure 28 [RCV002478909]|not provided [RCV003226984] Chr14:45151415 [GRCh38]
Chr14:45620618 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5318G>C (p.Arg1773Thr) single nucleotide variant Fanconi anemia [RCV000821370] Chr14:45189340 [GRCh38]
Chr14:45658543 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3887T>C (p.Ile1296Thr) single nucleotide variant Fanconi anemia [RCV000824453] Chr14:45176641 [GRCh38]
Chr14:45645844 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1849C>G (p.Gln617Glu) single nucleotide variant Fanconi anemia [RCV000812378]|Hereditary cancer-predisposing syndrome [RCV002256537]|not provided [RCV001759571] Chr14:45167010 [GRCh38]
Chr14:45636213 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5337G>T (p.Gln1779His) single nucleotide variant Fanconi anemia [RCV000798786]|not provided [RCV001731931] Chr14:45189359 [GRCh38]
Chr14:45658562 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6140_*8del (p.Asp2047fs) deletion Fanconi anemia [RCV000818345] Chr14:45199998..45200013 [GRCh38]
Chr14:45669201..45669216 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3004A>G (p.Ser1002Gly) single nucleotide variant Fanconi anemia [RCV000801955] Chr14:45175758 [GRCh38]
Chr14:45644961 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4318-3T>G single nucleotide variant FANCM-related disorder [RCV004738010]|Fanconi anemia [RCV000796235]|Spermatogenic failure 28 [RCV002507375]|not provided [RCV003238812]|not specified [RCV002249509] Chr14:45181634 [GRCh38]
Chr14:45650837 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter) single nucleotide variant Fanconi anemia [RCV000810762] Chr14:45185302 [GRCh38]
Chr14:45654505 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.147G>A (p.Gln49=) single nucleotide variant Fanconi anemia [RCV000942846] Chr14:45136178 [GRCh38]
Chr14:45605381 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.918+8A>G single nucleotide variant Fanconi anemia [RCV001483272] Chr14:45149003 [GRCh38]
Chr14:45618206 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile) single nucleotide variant Fanconi anemia [RCV000794413]|Inborn genetic diseases [RCV004619414]|Spermatogenic failure 28 [RCV002501045] Chr14:45175722 [GRCh38]
Chr14:45644925 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.98A>G (p.Gln33Arg) single nucleotide variant Fanconi anemia [RCV000816044] Chr14:45136129 [GRCh38]
Chr14:45605332 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1029A>G (p.Lys343=) single nucleotide variant Fanconi anemia [RCV001400563]|Inborn genetic diseases [RCV004973121] Chr14:45151507 [GRCh38]
Chr14:45620710 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4857T>A (p.Ser1619Arg) single nucleotide variant Fanconi anemia [RCV000792028] Chr14:45188879 [GRCh38]
Chr14:45658082 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4388C>G (p.Ser1463Ter) single nucleotide variant Neoplasm of ovary [RCV000785591] Chr14:45183775 [GRCh38]
Chr14:45652978 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg) single nucleotide variant Fanconi anemia [RCV000816774]|Spermatogenic failure 28 [RCV002487803]|not provided [RCV001772120] Chr14:45170603 [GRCh38]
Chr14:45639806 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser) single nucleotide variant Fanconi anemia [RCV000816901]|Spermatogenic failure 28 [RCV002487804]|not provided [RCV003236849] Chr14:45175927 [GRCh38]
Chr14:45645130 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1509T>G (p.Ile503Met) single nucleotide variant Fanconi anemia [RCV000823147]|Inborn genetic diseases [RCV002535976]|not provided [RCV004794463] Chr14:45159208 [GRCh38]
Chr14:45628411 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2861C>G (p.Ser954Cys) single nucleotide variant Fanconi anemia [RCV000823224] Chr14:45175615 [GRCh38]
Chr14:45644818 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.919-8A>G single nucleotide variant Fanconi anemia [RCV000795237]|not provided [RCV002464323] Chr14:45151389 [GRCh38]
Chr14:45620592 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.326T>C (p.Val109Ala) single nucleotide variant Fanconi anemia [RCV000811797] Chr14:45136357 [GRCh38]
Chr14:45605560 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1518G>A (p.Met506Ile) single nucleotide variant Fanconi anemia [RCV000797762] Chr14:45159217 [GRCh38]
Chr14:45628420 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.403G>A (p.Gly135Arg) single nucleotide variant Fanconi anemia [RCV000804340] Chr14:45136434 [GRCh38]
Chr14:45605637 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del) microsatellite Fanconi anemia [RCV000862191]|Hereditary breast ovarian cancer syndrome [RCV001030552]|Hereditary cancer-predisposing syndrome [RCV002255170]|not provided [RCV001585807] Chr14:45188880..45188882 [GRCh38]
Chr14:45658083..45658085 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.5067G>A (p.Ala1689=) single nucleotide variant Fanconi anemia [RCV000862192]|Hereditary cancer-predisposing syndrome [RCV002258006]|Inborn genetic diseases [RCV004973036]|not provided [RCV001593071] Chr14:45189089 [GRCh38]
Chr14:45658292 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys) single nucleotide variant FANCM-related disorder [RCV004538119]|Fanconi anemia [RCV000814302]|Spermatogenic failure 28 [RCV002478895]|not provided [RCV001577350] Chr14:45173160 [GRCh38]
Chr14:45642363 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs) deletion Fanconi anemia [RCV001067571]|not provided [RCV003229016] Chr14:45189069..45189073 [GRCh38]
Chr14:45658272..45658276 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp) single nucleotide variant Fanconi anemia [RCV001045788]|Spermatogenic failure 28 [RCV002479282]|not provided [RCV003232190] Chr14:45167121 [GRCh38]
Chr14:45636324 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1958C>G (p.Ser653Cys) single nucleotide variant Fanconi anemia [RCV001067698] Chr14:45167119 [GRCh38]
Chr14:45636322 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) single nucleotide variant Fanconi anemia [RCV001057419]|Hereditary cancer [RCV003492195]|Spermatogenic failure 28 [RCV002489459]|not provided [RCV003148902] Chr14:45176692 [GRCh38]
Chr14:45645895 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.173T>G (p.Leu58Arg) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030471] Chr14:45136204 [GRCh38]
Chr14:45605407 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu) single nucleotide variant Fanconi anemia [RCV001059828]|Hereditary breast ovarian cancer syndrome [RCV001030554]|Hereditary cancer-predisposing syndrome [RCV002256644]|Inborn genetic diseases [RCV002552438]|Spermatogenic failure 28 [RCV002479229]|not provided [RCV003153894] Chr14:45189090 [GRCh38]
Chr14:45658293 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5306A>G (p.Gln1769Arg) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030556] Chr14:45189328 [GRCh38]
Chr14:45658531 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5078G>A (p.Ser1693Asn) single nucleotide variant Fanconi anemia [RCV001045266]|Inborn genetic diseases [RCV002552578]|not provided [RCV003117721] Chr14:45189100 [GRCh38]
Chr14:45658303 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4030T>C (p.Ser1344Pro) single nucleotide variant Fanconi anemia [RCV001067278]|not provided [RCV001772298] Chr14:45176784 [GRCh38]
Chr14:45645987 [GRCh37]
Chr14:14q21.2		 uncertain significance
GRCh37/hg19 14q21.2(chr14:45563086-45643146)x1 copy number loss not provided [RCV000848887] Chr14:45563086..45643146 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5835A>G (p.Leu1945=) single nucleotide variant Fanconi anemia [RCV001413444]|Hereditary cancer-predisposing syndrome [RCV002256571] Chr14:45198762 [GRCh38]
Chr14:45667965 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser) single nucleotide variant Fanconi anemia complementation group A [RCV000989209] Chr14:45176584 [GRCh38]
Chr14:45645787 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1702A>G (p.Ile568Val) single nucleotide variant Fanconi anemia [RCV001066575] Chr14:45164479 [GRCh38]
Chr14:45633682 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5989G>C (p.Val1997Leu) single nucleotide variant Fanconi anemia [RCV001214093] Chr14:45198916 [GRCh38]
Chr14:45668119 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe) single nucleotide variant Fanconi anemia [RCV001214127]|Hereditary cancer-predisposing syndrome [RCV002256702]|Spermatogenic failure 28 [RCV002484167]|not provided [RCV001555434] Chr14:45175470 [GRCh38]
Chr14:45644673 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4793A>G (p.Asp1598Gly) single nucleotide variant Fanconi anemia [RCV001862437]|Hereditary breast ovarian cancer syndrome [RCV001030551]|Inborn genetic diseases [RCV004973243] Chr14:45188815 [GRCh38]
Chr14:45658018 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5282C>T (p.Pro1761Leu) single nucleotide variant Fanconi anemia [RCV003523057]|Hereditary breast ovarian cancer syndrome [RCV001030555] Chr14:45189304 [GRCh38]
Chr14:45658507 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1466T>C (p.Val489Ala) single nucleotide variant Fanconi anemia [RCV001211503] Chr14:45159165 [GRCh38]
Chr14:45628368 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs) deletion Fanconi anemia [RCV001045406]|not provided [RCV003238283] Chr14:45176733..45176734 [GRCh38]
Chr14:45645936..45645937 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.4286_4287insTTAAAAGTTAAAAG (p.Arg1429delinsSerTer) microsatellite not provided [RCV001200589] Chr14:45181481..45181482 [GRCh38]
Chr14:45650684..45650685 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.3640G>A (p.Val1214Met) single nucleotide variant Fanconi anemia [RCV001231339]|not provided [RCV003225162] Chr14:45176394 [GRCh38]
Chr14:45645597 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3794A>G (p.Glu1265Gly) single nucleotide variant Fanconi anemia [RCV001067604]|Spermatogenic failure 28 [RCV001292736]|not provided [RCV004726862] Chr14:45176548 [GRCh38]
Chr14:45645751 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del) microsatellite Fanconi anemia [RCV001067870]|Spermatogenic failure 28 [RCV002482117] Chr14:45176635..45176637 [GRCh38]
Chr14:45645838..45645840 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn) single nucleotide variant Fanconi anemia [RCV001068292]|Spermatogenic failure 28 [RCV002480429]|not provided [RCV001664657] Chr14:45176190 [GRCh38]
Chr14:45645393 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4322A>C (p.Gln1441Pro) single nucleotide variant Fanconi anemia [RCV001231355] Chr14:45181641 [GRCh38]
Chr14:45650844 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1655T>C (p.Ile552Thr) single nucleotide variant Fanconi anemia [RCV001352211]|not provided [RCV000995172] Chr14:45164432 [GRCh38]
Chr14:45633635 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3410T>G (p.Phe1137Cys) single nucleotide variant Fanconi anemia [RCV001205739] Chr14:45176164 [GRCh38]
Chr14:45645367 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2762G>A (p.Cys921Tyr) single nucleotide variant Fanconi anemia [RCV001215964]|Spermatogenic failure 28 [RCV005012622]|not provided [RCV004590232] Chr14:45175516 [GRCh38]
Chr14:45644719 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4447G>C (p.Asp1483His) single nucleotide variant Fanconi anemia [RCV001210629] Chr14:45183834 [GRCh38]
Chr14:45653037 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3442A>G (p.Ser1148Gly) single nucleotide variant Fanconi anemia [RCV001203066] Chr14:45176196 [GRCh38]
Chr14:45645399 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.314G>T (p.Cys105Phe) single nucleotide variant Fanconi anemia [RCV001222382]|Inborn genetic diseases [RCV004619565]|not provided [RCV002284474] Chr14:45136345 [GRCh38]
Chr14:45605548 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg) single nucleotide variant Fanconi anemia [RCV001242709]|Spermatogenic failure 28 [RCV002484336]|not provided [RCV002464416] Chr14:45137161 [GRCh38]
Chr14:45606364 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1051-2A>T single nucleotide variant Fanconi anemia [RCV001234488] Chr14:45153918 [GRCh38]
Chr14:45623121 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu) single nucleotide variant Fanconi anemia [RCV001222946]|Hereditary cancer-predisposing syndrome [RCV002256708]|Inborn genetic diseases [RCV002562571]|Spermatogenic failure 28 [RCV002491700]|not provided [RCV004998742] Chr14:45148952 [GRCh38]
Chr14:45618155 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4820G>A (p.Cys1607Tyr) single nucleotide variant Fanconi anemia [RCV001209164]|not provided [RCV003442771] Chr14:45188842 [GRCh38]
Chr14:45658045 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.324G>A (p.Leu108=) single nucleotide variant Fanconi anemia [RCV001233775] Chr14:45136355 [GRCh38]
Chr14:45605558 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.989C>T (p.Thr330Ile) single nucleotide variant Fanconi anemia [RCV001222667] Chr14:45151467 [GRCh38]
Chr14:45620670 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2053T>G (p.Phe685Val) single nucleotide variant Fanconi anemia [RCV001239352]|Hereditary cancer [RCV004698857]|not provided [RCV002462862] Chr14:45170639 [GRCh38]
Chr14:45639842 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2752A>G (p.Lys918Glu) single nucleotide variant Fanconi anemia [RCV001206363]|Spermatogenic failure 28 [RCV005012604] Chr14:45175506 [GRCh38]
Chr14:45644709 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.497C>A (p.Ala166Asp) single nucleotide variant FANCM-related disorder [RCV004726956]|Fanconi anemia [RCV001206428]|not provided [RCV001664752] Chr14:45136528 [GRCh38]
Chr14:45605731 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4780-2A>G single nucleotide variant Fanconi anemia [RCV001209303] Chr14:45188800 [GRCh38]
Chr14:45658003 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val) single nucleotide variant Fanconi anemia [RCV001234862]|Inborn genetic diseases [RCV003166446]|Spermatogenic failure 28 [RCV002484284]|not provided [RCV004768956] Chr14:45175468 [GRCh38]
Chr14:45644671 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1396+6T>A single nucleotide variant Fanconi anemia [RCV001234921] Chr14:45155465 [GRCh38]
Chr14:45624668 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1565A>C (p.Gln522Pro) single nucleotide variant Fanconi anemia [RCV001217827] Chr14:45159264 [GRCh38]
Chr14:45628467 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter) single nucleotide variant Fanconi anemia [RCV001240097]|Hereditary cancer-predisposing syndrome [RCV002258173]|not provided [RCV001838462] Chr14:45159155 [GRCh38]
Chr14:45628358 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.679C>T (p.Gln227Ter) single nucleotide variant Fanconi anemia [RCV001220858] Chr14:45137239 [GRCh38]
Chr14:45606442 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1882A>C (p.Met628Leu) single nucleotide variant Fanconi anemia [RCV001223763] Chr14:45167043 [GRCh38]
Chr14:45636246 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3238C>G (p.Leu1080Val) single nucleotide variant Fanconi anemia [RCV001240223] Chr14:45175992 [GRCh38]
Chr14:45645195 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1827_1828dup (p.Lys610fs) microsatellite Fanconi anemia [RCV001237908] Chr14:45166981..45166982 [GRCh38]
Chr14:45636184..45636185 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1391G>T (p.Trp464Leu) single nucleotide variant Fanconi anemia [RCV001227203] Chr14:45155454 [GRCh38]
Chr14:45624657 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3303A>C (p.Gln1101His) single nucleotide variant Fanconi anemia [RCV001237850]|not provided [RCV003478746] Chr14:45176057 [GRCh38]
Chr14:45645260 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3697G>C (p.Asp1233His) single nucleotide variant Fanconi anemia [RCV001209651] Chr14:45176451 [GRCh38]
Chr14:45645654 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5407G>A (p.Ala1803Thr) single nucleotide variant Fanconi anemia [RCV001221174] Chr14:45196238 [GRCh38]
Chr14:45665441 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3268C>G (p.Gln1090Glu) single nucleotide variant Fanconi anemia [RCV001210151] Chr14:45176022 [GRCh38]
Chr14:45645225 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2617G>T (p.Gly873Cys) single nucleotide variant Fanconi anemia [RCV001221298] Chr14:45175371 [GRCh38]
Chr14:45644574 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4115G>T (p.Arg1372Ile) single nucleotide variant Fanconi anemia [RCV001221299] Chr14:45176869 [GRCh38]
Chr14:45646072 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5816A>G (p.Glu1939Gly) single nucleotide variant Fanconi anemia [RCV001221354] Chr14:45198743 [GRCh38]
Chr14:45667946 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6041T>C (p.Val2014Ala) single nucleotide variant Fanconi anemia [RCV001238162]|not provided [RCV003156324] Chr14:45199902 [GRCh38]
Chr14:45669105 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1688C>T (p.Ser563Phe) single nucleotide variant Fanconi anemia [RCV001221696] Chr14:45164465 [GRCh38]
Chr14:45633668 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2774C>T (p.Thr925Ile) single nucleotide variant Fanconi anemia [RCV001240654]|not provided [RCV004727030] Chr14:45175528 [GRCh38]
Chr14:45644731 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.454G>A (p.Glu152Lys) single nucleotide variant Fanconi anemia [RCV001223305] Chr14:45136485 [GRCh38]
Chr14:45605688 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2956G>A (p.Val986Ile) single nucleotide variant Fanconi anemia [RCV001218429] Chr14:45175710 [GRCh38]
Chr14:45644913 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.964A>T (p.Met322Leu) single nucleotide variant Fanconi anemia [RCV001238563] Chr14:45151442 [GRCh38]
Chr14:45620645 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.543G>T (p.Trp181Cys) single nucleotide variant Fanconi anemia [RCV001221951] Chr14:45137103 [GRCh38]
Chr14:45606306 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His) single nucleotide variant Fanconi anemia [RCV001224291]|Spermatogenic failure 28 [RCV002504287]|not provided [RCV001760214] Chr14:45176365 [GRCh38]
Chr14:45645568 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5230G>A (p.Glu1744Lys) single nucleotide variant Fanconi anemia [RCV001224292] Chr14:45189252 [GRCh38]
Chr14:45658455 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4519G>A (p.Val1507Ile) single nucleotide variant Fanconi anemia [RCV001225936]|not provided [RCV003238325] Chr14:45185220 [GRCh38]
Chr14:45654423 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1270C>T (p.Arg424Cys) single nucleotide variant Fanconi anemia [RCV001242735]|not provided [RCV002480814] Chr14:45154783 [GRCh38]
Chr14:45623986 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr) single nucleotide variant Fanconi anemia [RCV001226763]|Spermatogenic failure 28 [RCV002504296]|not provided [RCV003238848] Chr14:45189250 [GRCh38]
Chr14:45658453 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) single nucleotide variant Fanconi anemia [RCV001242413]|Fanconi anemia complementation group A [RCV000989211]|not provided [RCV001772179] Chr14:45183852 [GRCh38]
Chr14:45653055 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.317A>G (p.Asn106Ser) single nucleotide variant Fanconi anemia [RCV001246662]|not provided [RCV001751498] Chr14:45136348 [GRCh38]
Chr14:45605551 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4054A>G (p.Lys1352Glu) single nucleotide variant Fanconi anemia [RCV001221813] Chr14:45176808 [GRCh38]
Chr14:45646011 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.189G>T (p.Glu63Asp) single nucleotide variant Fanconi anemia [RCV001218872] Chr14:45136220 [GRCh38]
Chr14:45605423 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3703G>C (p.Gly1235Arg) single nucleotide variant Fanconi anemia [RCV001222208] Chr14:45176457 [GRCh38]
Chr14:45645660 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1511G>C (p.Arg504Thr) single nucleotide variant Fanconi anemia [RCV001226043] Chr14:45159210 [GRCh38]
Chr14:45628413 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.710del (p.Asn237fs) deletion Fanconi anemia [RCV001212264] Chr14:45140658 [GRCh38]
Chr14:45609861 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1778G>A (p.Arg593Gln) single nucleotide variant Fanconi anemia [RCV001219283] Chr14:45164555 [GRCh38]
Chr14:45633758 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.908C>A (p.Thr303Asn) single nucleotide variant Fanconi anemia [RCV001247488]|not provided [RCV003478755] Chr14:45148985 [GRCh38]
Chr14:45618188 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2457G>T (p.Lys819Asn) single nucleotide variant Fanconi anemia [RCV001230079]|not provided [RCV004998750] Chr14:45175211 [GRCh38]
Chr14:45644414 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu) single nucleotide variant Fanconi anemia [RCV001212844]|Spermatogenic failure 28 [RCV002484160]|not provided [RCV001779135] Chr14:45164533 [GRCh38]
Chr14:45633736 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe) single nucleotide variant Fanconi anemia [RCV001215455]|Spermatogenic failure 28 [RCV001788425]|Spermatogenic failure 28 [RCV002480705]|not provided [RCV003318670] Chr14:45175901 [GRCh38]
Chr14:45645104 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4318-1G>A single nucleotide variant Fanconi anemia [RCV001233917]|not provided [RCV001773527] Chr14:45181636 [GRCh38]
Chr14:45650839 [GRCh37]
Chr14:14q21.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del) microsatellite Fanconi anemia [RCV001216739]|Spermatogenic failure 28 [RCV002484177]|not provided [RCV001553082] Chr14:45155376..45155381 [GRCh38]
Chr14:45624579..45624584 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4119C>A (p.Phe1373Leu) single nucleotide variant not provided [RCV003159518] Chr14:45176873 [GRCh38]
Chr14:45646076 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.577G>A (p.Val193Ile) single nucleotide variant not provided [RCV003318168] Chr14:45137137 [GRCh38]
Chr14:45606340 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2922C>A (p.Asp974Glu) single nucleotide variant Fanconi anemia [RCV003635943]|not provided [RCV001172077] Chr14:45175676 [GRCh38]
Chr14:45644879 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.281A>G (p.Tyr94Cys) single nucleotide variant Fanconi anemia [RCV001212679]|not provided [RCV002286821] Chr14:45136312 [GRCh38]
Chr14:45605515 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr) single nucleotide variant Fanconi anemia [RCV001246566]|Spermatogenic failure 28 [RCV002504360] Chr14:45187799 [GRCh38]
Chr14:45657002 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys) single nucleotide variant Fanconi anemia [RCV001043506]|Spermatogenic failure 28 [RCV002481904]|not provided [RCV002307660] Chr14:45176947 [GRCh38]
Chr14:45646150 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2310C>G (p.His770Gln) single nucleotide variant Fanconi anemia [RCV001229246] Chr14:45173204 [GRCh38]
Chr14:45642407 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4779+5_4779+9del deletion Fanconi anemia [RCV001046754] Chr14:45187891..45187895 [GRCh38]
Chr14:45657094..45657098 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3573A>G (p.Gln1191=) single nucleotide variant Fanconi anemia [RCV001212115] Chr14:45176327 [GRCh38]
Chr14:45645530 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5376G>A (p.Gly1792=) single nucleotide variant Fanconi anemia [RCV003105219] Chr14:45196207 [GRCh38]
Chr14:45665410 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5152G>T (p.Val1718Leu) single nucleotide variant not provided [RCV004776919] Chr14:45189174 [GRCh38]
Chr14:45658377 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1712T>A (p.Val571Glu) single nucleotide variant not provided [RCV003127045] Chr14:45164489 [GRCh38]
Chr14:45633692 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5879A>G (p.His1960Arg) single nucleotide variant Fanconi anemia [RCV003104479] Chr14:45198806 [GRCh38]
Chr14:45668009 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1788+31del deletion not provided [RCV001665058] Chr14:45164596 [GRCh38]
Chr14:45633799 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1789-155_1789-154dup duplication not provided [RCV001643863] Chr14:45166777..45166778 [GRCh38]
Chr14:45635980..45635981 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1581+147A>C single nucleotide variant not provided [RCV001569484] Chr14:45159427 [GRCh38]
Chr14:45628630 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4222+83T>A single nucleotide variant not provided [RCV001566197] Chr14:45177059 [GRCh38]
Chr14:45646262 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.-5G>A single nucleotide variant not provided [RCV001566936] Chr14:45136027 [GRCh38]
Chr14:45605230 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1581+66T>G single nucleotide variant not provided [RCV001552098] Chr14:45159346 [GRCh38]
Chr14:45628549 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4673-185C>G single nucleotide variant not provided [RCV001548128] Chr14:45187596 [GRCh38]
Chr14:45656799 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.508+76C>T single nucleotide variant not provided [RCV001686329] Chr14:45136615 [GRCh38]
Chr14:45605818 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.2316+259C>G single nucleotide variant not provided [RCV001554935] Chr14:45173469 [GRCh38]
Chr14:45642672 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4673-12A>G single nucleotide variant Fanconi anemia [RCV002072125]|Hereditary cancer-predisposing syndrome [RCV002256820]|not provided [RCV001560452] Chr14:45187769 [GRCh38]
Chr14:45656972 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1051-304A>G single nucleotide variant not provided [RCV001698876] Chr14:45153616 [GRCh38]
Chr14:45622819 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4222+334C>T single nucleotide variant not provided [RCV001583926] Chr14:45177310 [GRCh38]
Chr14:45646513 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5341-63G>A single nucleotide variant not provided [RCV001668692] Chr14:45196109 [GRCh38]
Chr14:45665312 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.5340+149A>T single nucleotide variant not provided [RCV001564820] Chr14:45189511 [GRCh38]
Chr14:45658714 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4516-262del deletion not provided [RCV001649599] Chr14:45184941 [GRCh38]
Chr14:45654144 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1183+32T>C single nucleotide variant not provided [RCV001557200] Chr14:45154084 [GRCh38]
Chr14:45623287 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4673-234G>A single nucleotide variant not provided [RCV001562714] Chr14:45187547 [GRCh38]
Chr14:45656750 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu) single nucleotide variant Fanconi anemia [RCV001866220]|Spermatogenic failure 28 [RCV002495956]|not provided [RCV001593999] Chr14:45176382 [GRCh38]
Chr14:45645585 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6008+89G>A single nucleotide variant not provided [RCV001581339] Chr14:45199024 [GRCh38]
Chr14:45668227 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1396+279G>A single nucleotide variant not provided [RCV001714045] Chr14:45155738 [GRCh38]
Chr14:45624941 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.6138T>C (p.Ser2046=) single nucleotide variant Fanconi anemia [RCV002072117]|Inborn genetic diseases [RCV004980598]|not provided [RCV001559464] Chr14:45199999 [GRCh38]
Chr14:45669202 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4318-27G>A single nucleotide variant Premature ovarian failure 15 [RCV001703044]|Spermatogenic failure 28 [RCV001702955]|not provided [RCV001665882] Chr14:45181610 [GRCh38]
Chr14:45650813 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.3417T>C (p.Asp1139=) single nucleotide variant Fanconi anemia [RCV001452985] Chr14:45176171 [GRCh38]
Chr14:45645374 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1986C>T (p.Ile662=) single nucleotide variant Fanconi anemia [RCV001403354]|Inborn genetic diseases [RCV004973179] Chr14:45167147 [GRCh38]
Chr14:45636350 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.114C>G (p.Ser38=) single nucleotide variant Fanconi anemia [RCV003103881] Chr14:45136145 [GRCh38]
Chr14:45605348 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4566T>C (p.Asp1522=) single nucleotide variant Fanconi anemia [RCV001415702]|not provided [RCV003238254] Chr14:45185267 [GRCh38]
Chr14:45654470 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2682A>C (p.Leu894=) single nucleotide variant Fanconi anemia [RCV000871822]|Inborn genetic diseases [RCV004973106]|not provided [RCV003478552] Chr14:45175436 [GRCh38]
Chr14:45644639 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1551G>A (p.Thr517=) single nucleotide variant Fanconi anemia [RCV000866768]|Hereditary cancer-predisposing syndrome [RCV002255554]|Inborn genetic diseases [RCV004973070]|Spermatogenic failure 28 [RCV002501260]|not provided [RCV001779091] Chr14:45159250 [GRCh38]
Chr14:45628453 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5400A>G (p.Pro1800=) single nucleotide variant Fanconi anemia [RCV001398300] Chr14:45196231 [GRCh38]
Chr14:45665434 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3492A>G (p.Lys1164=) single nucleotide variant not provided [RCV000919093] Chr14:45176246 [GRCh38]
Chr14:45645449 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4992A>G (p.Leu1664=) single nucleotide variant not provided [RCV000930578] Chr14:45189014 [GRCh38]
Chr14:45658217 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6C>T (p.Ser2=) single nucleotide variant Fanconi anemia [RCV001504226]|Inborn genetic diseases [RCV004973222] Chr14:45136037 [GRCh38]
Chr14:45605240 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4068A>G (p.Glu1356=) single nucleotide variant Fanconi anemia [RCV001427379] Chr14:45176822 [GRCh38]
Chr14:45646025 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2760G>C (p.Pro920=) single nucleotide variant Fanconi anemia [RCV000920174] Chr14:45175514 [GRCh38]
Chr14:45644717 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.975T>C (p.Asp325=) single nucleotide variant Fanconi anemia [RCV000871951]|Hereditary cancer-predisposing syndrome [RCV002256574]|not provided [RCV003478553] Chr14:45151453 [GRCh38]
Chr14:45620656 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5901T>C (p.Ser1967=) single nucleotide variant Fanconi anemia [RCV000861437]|Inborn genetic diseases [RCV004973029] Chr14:45198828 [GRCh38]
Chr14:45668031 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2805T>C (p.Ser935=) single nucleotide variant Fanconi anemia [RCV000951006]|Inborn genetic diseases [RCV004973196] Chr14:45175559 [GRCh38]
Chr14:45644762 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.108C>A (p.Gly36=) single nucleotide variant not provided [RCV000872246] Chr14:45136139 [GRCh38]
Chr14:45605342 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3048A>C (p.Ala1016=) single nucleotide variant Fanconi anemia [RCV001394858]|Inborn genetic diseases [RCV004973116] Chr14:45175802 [GRCh38]
Chr14:45645005 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3663T>C (p.Phe1221=) single nucleotide variant FANCM-related disorder [RCV004738088]|Fanconi anemia [RCV001475559]|Inborn genetic diseases [RCV004973182]|not provided [RCV000931430] Chr14:45176417 [GRCh38]
Chr14:45645620 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.5898T>C (p.Asn1966=) single nucleotide variant Fanconi anemia [RCV001500033] Chr14:45198825 [GRCh38]
Chr14:45668028 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=) single nucleotide variant FANCM-related disorder [RCV004540209]|Fanconi anemia [RCV000868203]|Inborn genetic diseases [RCV004973081]|not provided [RCV001566056]|not specified [RCV001816983] Chr14:45176435 [GRCh38]
Chr14:45645638 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.5409T>C (p.Ala1803=) single nucleotide variant FANCM-related disorder [RCV004543589]|Fanconi anemia [RCV000953411] Chr14:45196240 [GRCh38]
Chr14:45665443 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2700A>G (p.Thr900=) single nucleotide variant Fanconi anemia [RCV000864867] Chr14:45175454 [GRCh38]
Chr14:45644657 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn) single nucleotide variant Fanconi anemia [RCV000864937]|not provided [RCV001766774] Chr14:45176838 [GRCh38]
Chr14:45646041 [GRCh37]
Chr14:14q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020937.4(FANCM):c.5122G>T (p.Val1708Leu) single nucleotide variant Fanconi anemia [RCV001244339] Chr14:45189144 [GRCh38]
Chr14:45658347 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5702A>G (p.Asp1901Gly) single nucleotide variant Fanconi anemia [RCV001222096] Chr14:45196533 [GRCh38]
Chr14:45665736 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4480G>T (p.Gly1494Cys) single nucleotide variant Fanconi anemia [RCV001222215] Chr14:45183867 [GRCh38]
Chr14:45653070 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4386+2dup duplication Fanconi anemia [RCV001222231]|not provided [RCV001751428] Chr14:45181706..45181707 [GRCh38]
Chr14:45650909..45650910 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5340delinsTGGAATCACT (p.Lys1780delinsAsnGlyIleThr) indel Fanconi anemia [RCV001244416]|not provided [RCV004998767] Chr14:45189362 [GRCh38]
Chr14:45658565 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.836C>T (p.Thr279Ile) single nucleotide variant Fanconi anemia [RCV001214355]|Inborn genetic diseases [RCV004978116] Chr14:45148913 [GRCh38]
Chr14:45618116 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln) single nucleotide variant Fanconi anemia [RCV001071165]|Spermatogenic failure 28 [RCV001292690]|Spermatogenic failure 28 [RCV002505660]|not provided [RCV001732036] Chr14:45154762 [GRCh38]
Chr14:45623965 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3261A>T (p.Lys1087Asn) single nucleotide variant Fanconi anemia [RCV001222372]|not provided [RCV003442785] Chr14:45176015 [GRCh38]
Chr14:45645218 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5770A>T (p.Thr1924Ser) single nucleotide variant Fanconi anemia [RCV001222480]|not provided [RCV001773500] Chr14:45198697 [GRCh38]
Chr14:45667900 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5530del (p.Gln1844fs) deletion Fanconi anemia [RCV001231918] Chr14:45196361 [GRCh38]
Chr14:45665564 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.201G>T (p.Gln67His) single nucleotide variant Fanconi anemia [RCV001244866]|Inborn genetic diseases [RCV004034803]|not provided [RCV001565869] Chr14:45136232 [GRCh38]
Chr14:45605435 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.938G>A (p.Arg313His) single nucleotide variant Fanconi anemia [RCV001244961]|not provided [RCV001587276] Chr14:45151416 [GRCh38]
Chr14:45620619 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3704G>T (p.Gly1235Val) single nucleotide variant Fanconi anemia [RCV001236470]|not provided [RCV001751464] Chr14:45176458 [GRCh38]
Chr14:45645661 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp) single nucleotide variant Fanconi anemia [RCV001214575]|Spermatogenic failure 28 [RCV002484172]|not provided [RCV003318669] Chr14:45164381 [GRCh38]
Chr14:45633584 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5618A>G (p.Asn1873Ser) single nucleotide variant Fanconi anemia [RCV001036712]|Inborn genetic diseases [RCV004973249] Chr14:45196449 [GRCh38]
Chr14:45665652 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met) single nucleotide variant Fanconi anemia [RCV001051129]|Inborn genetic diseases [RCV004977925]|Spermatogenic failure 28 [RCV002479316]|not provided [RCV002298859] Chr14:45175139 [GRCh38]
Chr14:45644342 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.746G>C (p.Gly249Ala) single nucleotide variant Fanconi anemia [RCV001208571] Chr14:45140696 [GRCh38]
Chr14:45609899 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5729G>C (p.Arg1910Thr) single nucleotide variant Fanconi anemia [RCV001243401]|Inborn genetic diseases [RCV004619582] Chr14:45198656 [GRCh38]
Chr14:45667859 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4477del (p.Arg1493fs) deletion Fanconi anemia [RCV001205878]|Premature ovarian failure 15 [RCV003462691] Chr14:45183863 [GRCh38]
Chr14:45653066 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.1462A>G (p.Ser488Gly) single nucleotide variant Fanconi anemia [RCV001227706]|not provided [RCV001527325] Chr14:45159161 [GRCh38]
Chr14:45628364 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5156G>A (p.Arg1719His) single nucleotide variant Fanconi anemia [RCV001065576]|Spermatogenic failure 28 [RCV005012520] Chr14:45189178 [GRCh38]
Chr14:45658381 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3402G>C (p.Leu1134Phe) single nucleotide variant Fanconi anemia [RCV001051517] Chr14:45176156 [GRCh38]
Chr14:45645359 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2892A>G (p.Glu964=) single nucleotide variant Fanconi anemia [RCV001223976] Chr14:45175646 [GRCh38]
Chr14:45644849 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro) single nucleotide variant Fanconi anemia [RCV001065283]|Spermatogenic failure 28 [RCV002489691]|not provided [RCV001585969] Chr14:45176689 [GRCh38]
Chr14:45645892 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.511T>C (p.Ser171Pro) single nucleotide variant Fanconi anemia [RCV001209270] Chr14:45137071 [GRCh38]
Chr14:45606274 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1025G>A (p.Arg342Lys) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030473] Chr14:45151503 [GRCh38]
Chr14:45620706 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2525_2528del (p.Gln842fs) microsatellite Hereditary breast ovarian cancer syndrome [RCV001030479] Chr14:45175275..45175278 [GRCh38]
Chr14:45644478..45644481 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.5605T>C (p.Ser1869Pro) single nucleotide variant Fanconi anemia [RCV001047718] Chr14:45196436 [GRCh38]
Chr14:45665639 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe) single nucleotide variant Fanconi anemia [RCV001217383]|Spermatogenic failure 28 [RCV002484180] Chr14:45196218 [GRCh38]
Chr14:45665421 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5805T>A (p.Ser1935Arg) single nucleotide variant Fanconi anemia [RCV001220989] Chr14:45198732 [GRCh38]
Chr14:45667935 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3494C>G (p.Thr1165Ser) single nucleotide variant Fanconi anemia [RCV001220990] Chr14:45176248 [GRCh38]
Chr14:45645451 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys) single nucleotide variant Fanconi anemia [RCV001224675]|Spermatogenic failure 28 [RCV002491709] Chr14:45167155 [GRCh38]
Chr14:45636358 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4076A>G (p.Lys1359Arg) single nucleotide variant Fanconi anemia [RCV001045566] Chr14:45176830 [GRCh38]
Chr14:45646033 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4231TTA[1] (p.Leu1412del) microsatellite Fanconi anemia [RCV001246691] Chr14:45181437..45181439 [GRCh38]
Chr14:45650640..45650642 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe) single nucleotide variant Fanconi anemia [RCV001211838]|Spermatogenic failure 28 [RCV002484154] Chr14:45176227 [GRCh38]
Chr14:45645430 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6020A>G (p.Glu2007Gly) single nucleotide variant Fanconi anemia [RCV001227659] Chr14:45199881 [GRCh38]
Chr14:45669084 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg) single nucleotide variant Fanconi anemia [RCV001235155]|Inborn genetic diseases [RCV002563823]|Spermatogenic failure 28 [RCV002480766]|not provided [RCV001800973] Chr14:45175753 [GRCh38]
Chr14:45644956 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2725A>G (p.Thr909Ala) single nucleotide variant Fanconi anemia [RCV001210353] Chr14:45175479 [GRCh38]
Chr14:45644682 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2392A>G (p.Arg798Gly) single nucleotide variant Fanconi anemia [RCV001228147]|not provided [RCV003442789] Chr14:45175146 [GRCh38]
Chr14:45644349 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1551G>C (p.Thr517=) single nucleotide variant Fanconi anemia [RCV001398440] Chr14:45159250 [GRCh38]
Chr14:45628453 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.480C>T (p.Ile160=) single nucleotide variant Fanconi anemia [RCV001484746]|Spermatogenic failure 28 [RCV002502865] Chr14:45136511 [GRCh38]
Chr14:45605714 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5148C>A (p.Ser1716=) single nucleotide variant Fanconi anemia [RCV000934935] Chr14:45189170 [GRCh38]
Chr14:45658373 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.772G>A (p.Val258Ile) single nucleotide variant not provided [RCV004812999] Chr14:45148849 [GRCh38]
Chr14:45618052 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1789-208C>T single nucleotide variant not provided [RCV001556551] Chr14:45166742 [GRCh38]
Chr14:45635945 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.918+291CA[13] microsatellite not provided [RCV001720956] Chr14:45149285..45149286 [GRCh38]
Chr14:45618488..45618489 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met) single nucleotide variant Fanconi anemia [RCV002570774]|Inborn genetic diseases [RCV004039361]|Spermatogenic failure 28 [RCV002476871]|not provided [RCV001569845] Chr14:45189174 [GRCh38]
Chr14:45658377 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4223-64G>C single nucleotide variant not provided [RCV001577375] Chr14:45181366 [GRCh38]
Chr14:45650569 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1396+139del deletion not provided [RCV001572524] Chr14:45155597 [GRCh38]
Chr14:45624800 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1310-139T>A single nucleotide variant not provided [RCV001551802] Chr14:45155234 [GRCh38]
Chr14:45624437 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.759+205= single nucleotide variant not provided [RCV001661096] Chr14:45140914 [GRCh38]
Chr14:45610117 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.2160+36C>G single nucleotide variant not provided [RCV001661185] Chr14:45170782 [GRCh38]
Chr14:45639985 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4622C>T (p.Ser1541Leu) single nucleotide variant Fanconi anemia [RCV001859387]|not provided [RCV001559114] Chr14:45185323 [GRCh38]
Chr14:45654526 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.896C>G (p.Ala299Gly) single nucleotide variant not provided [RCV003237189] Chr14:45148973 [GRCh38]
Chr14:45618176 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2662A>G (p.Asn888Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256970] Chr14:45175416 [GRCh38]
Chr14:45644619 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5948G>A (p.Ser1983Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256976] Chr14:45198875 [GRCh38]
Chr14:45668078 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5478A>C (p.Glu1826Asp) single nucleotide variant Fanconi anemia [RCV003523120]|Hereditary cancer-predisposing syndrome [RCV002258410] Chr14:45196309 [GRCh38]
Chr14:45665512 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1031A>T (p.Asn344Ile) single nucleotide variant not provided [RCV002467235] Chr14:45151509 [GRCh38]
Chr14:45620712 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3995T>G (p.Val1332Gly) single nucleotide variant not provided [RCV003231848] Chr14:45176749 [GRCh38]
Chr14:45645952 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5340+23A>T single nucleotide variant not provided [RCV001576515] Chr14:45189385 [GRCh38]
Chr14:45658588 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3439G>A (p.Val1147Met) single nucleotide variant not provided [RCV002473428] Chr14:45176193 [GRCh38]
Chr14:45645396 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3468C>G (p.Ser1156Arg) single nucleotide variant Fanconi anemia [RCV001044846] Chr14:45176222 [GRCh38]
Chr14:45645425 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs) deletion Fanconi anemia [RCV001043562] Chr14:45176195..45176196 [GRCh38]
Chr14:45645398..45645399 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2311G>A (p.Glu771Lys) single nucleotide variant Fanconi anemia [RCV001040753]|Hereditary breast ovarian cancer syndrome [RCV001030477]|not provided [RCV001544800] Chr14:45173205 [GRCh38]
Chr14:45642408 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer) indel Fanconi anemia [RCV002551724]|not provided [RCV001009314] Chr14:45185335..45185338 [GRCh38]
Chr14:45654538..45654541 [GRCh37]
Chr14:14q21.2		 pathogenic
GRCh37/hg19 14q21.2(chr14:45361304-46896735)x3 copy number gain not provided [RCV001006628] Chr14:45361304..46896735 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1050+312G>T single nucleotide variant not provided [RCV001656841] Chr14:45151840 [GRCh38]
Chr14:45621043 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.2003-256C>G single nucleotide variant not provided [RCV001636181] Chr14:45170333 [GRCh38]
Chr14:45639536 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4387-13C>T single nucleotide variant Fanconi anemia [RCV002073068]|not provided [RCV001659071] Chr14:45183761 [GRCh38]
Chr14:45652964 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1582-40A>G single nucleotide variant not provided [RCV001659422] Chr14:45164319 [GRCh38]
Chr14:45633522 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.682-166A>G single nucleotide variant not provided [RCV001639593] Chr14:45140466 [GRCh38]
Chr14:45609669 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4222+167_4222+246del deletion not provided [RCV001564804] Chr14:45177141..45177220 [GRCh38]
Chr14:45646344..45646423 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.681+254G>A single nucleotide variant not provided [RCV001539940] Chr14:45137495 [GRCh38]
Chr14:45606698 [GRCh37]
Chr14:14q21.2		 likely benign
GRCh37/hg19 14q21.2(chr14:45631762-45764884)x1 copy number loss not provided [RCV001006629] Chr14:45631762..45764884 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5340+226A>G single nucleotide variant not provided [RCV001693427] Chr14:45189588 [GRCh38]
Chr14:45658791 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1789-184A>G single nucleotide variant not provided [RCV001594321] Chr14:45166766 [GRCh38]
Chr14:45635969 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1397-15TA[8] microsatellite Fanconi anemia [RCV002070457]|not provided [RCV001588649] Chr14:45159080..45159081 [GRCh38]
Chr14:45628283..45628284 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.760-276T>C single nucleotide variant not provided [RCV001594549] Chr14:45148561 [GRCh38]
Chr14:45617764 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1433G>A (p.Arg478Gln) single nucleotide variant Spermatogenic failure 28 [RCV002495985]|not provided [RCV001658920] Chr14:45159132 [GRCh38]
Chr14:45628335 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5792G>A (p.Arg1931Gln) single nucleotide variant Fanconi anemia [RCV001859417]|not provided [RCV001659004] Chr14:45198719 [GRCh38]
Chr14:45667922 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly) single nucleotide variant FANCM-related disorder [RCV004738154]|Fanconi anemia [RCV001070610]|Spermatogenic failure 28 [RCV002489710]|not provided [RCV001772305] Chr14:45153984 [GRCh38]
Chr14:45623187 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.637A>G (p.Ile213Val) single nucleotide variant Fanconi anemia [RCV001070849] Chr14:45137197 [GRCh38]
Chr14:45606400 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3240CTGTGA[1] (p.1081CD[1]) microsatellite Fanconi anemia [RCV001071162] Chr14:45175994..45175999 [GRCh38]
Chr14:45645197..45645202 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del) microsatellite Fanconi anemia [RCV001049473]|Spermatogenic failure 28 [RCV002489609]|not provided [RCV001585946] Chr14:45199919..45199921 [GRCh38]
Chr14:45669122..45669124 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.71G>T (p.Gly24Val) single nucleotide variant Fanconi anemia [RCV001068512]|Spermatogenic failure 28 [RCV002505651] Chr14:45136102 [GRCh38]
Chr14:45605305 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His) single nucleotide variant Fanconi anemia [RCV001068698]|Spermatogenic failure 28 [RCV002489705]|not provided [RCV003236865] Chr14:45185373 [GRCh38]
Chr14:45654576 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.140A>G (p.Glu47Gly) single nucleotide variant Fanconi anemia [RCV001045617]|Inborn genetic diseases [RCV004973281] Chr14:45136171 [GRCh38]
Chr14:45605374 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1976A>T (p.Lys659Met) single nucleotide variant Fanconi anemia [RCV001067699] Chr14:45167137 [GRCh38]
Chr14:45636340 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3931C>T (p.Pro1311Ser) single nucleotide variant Fanconi anemia [RCV001050744]|Hereditary breast ovarian cancer syndrome [RCV001030482] Chr14:45176685 [GRCh38]
Chr14:45645888 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3869C>T (p.Thr1290Ile) single nucleotide variant Fanconi anemia [RCV001246363]|not provided [RCV003234014] Chr14:45176623 [GRCh38]
Chr14:45645826 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.980C>T (p.Pro327Leu) single nucleotide variant Fanconi anemia [RCV001228723]|Inborn genetic diseases [RCV004978158] Chr14:45151458 [GRCh38]
Chr14:45620661 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4223-169_4223-168del deletion not provided [RCV001588434] Chr14:45181261..45181262 [GRCh38]
Chr14:45650464..45650465 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5681T>C (p.Ile1894Thr) single nucleotide variant Fanconi anemia [RCV001046651]|not provided [RCV004768812]|not specified [RCV001819760] Chr14:45196512 [GRCh38]
Chr14:45665715 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.760-4A>G single nucleotide variant Fanconi anemia [RCV001046673] Chr14:45148833 [GRCh38]
Chr14:45618036 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.685G>T (p.Val229Leu) single nucleotide variant Fanconi anemia [RCV001068777]|not provided [RCV002298866] Chr14:45140635 [GRCh38]
Chr14:45609838 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2002+141G>A single nucleotide variant not provided [RCV001680767] Chr14:45167304 [GRCh38]
Chr14:45636507 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.5141C>A (p.Ala1714Glu) single nucleotide variant Fanconi anemia [RCV001071127]|not provided [RCV004761926] Chr14:45189163 [GRCh38]
Chr14:45658366 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2661A>C (p.Glu887Asp) single nucleotide variant Fanconi anemia [RCV001069089] Chr14:45175415 [GRCh38]
Chr14:45644618 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu) single nucleotide variant Fanconi anemia [RCV001049482]|Spermatogenic failure 28 [RCV002481950]|not provided [RCV004777944] Chr14:45196266 [GRCh38]
Chr14:45665469 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3902A>T (p.Asp1301Val) single nucleotide variant Fanconi anemia [RCV001047482]|not provided [RCV004761902] Chr14:45176656 [GRCh38]
Chr14:45645859 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val) single nucleotide variant Fanconi anemia [RCV001035648]|Spermatogenic failure 28 [RCV002497356] Chr14:45183870 [GRCh38]
Chr14:45653073 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2922C>G (p.Asp974Glu) single nucleotide variant Fanconi anemia [RCV001035952] Chr14:45175676 [GRCh38]
Chr14:45644879 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4121A>G (p.Lys1374Arg) single nucleotide variant Fanconi anemia [RCV001047933] Chr14:45176875 [GRCh38]
Chr14:45646078 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1581+292C>T single nucleotide variant not provided [RCV001611526] Chr14:45159572 [GRCh38]
Chr14:45628775 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1423G>T (p.Asp475Tyr) single nucleotide variant Fanconi anemia [RCV001036198] Chr14:45159122 [GRCh38]
Chr14:45628325 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer) indel Fanconi anemia [RCV002568275]|not provided [RCV001545345] Chr14:45175586..45175593 [GRCh38]
Chr14:45644789..45644796 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.4387-39del deletion not provided [RCV001545928] Chr14:45183735 [GRCh38]
Chr14:45652938 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1184-281dup duplication not provided [RCV001692833] Chr14:45154398..45154399 [GRCh38]
Chr14:45623601..45623602 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1397-149T>C single nucleotide variant not provided [RCV001586949] Chr14:45158947 [GRCh38]
Chr14:45628150 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1310-36dup duplication not provided [RCV001692913] Chr14:45155330..45155331 [GRCh38]
Chr14:45624533..45624534 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4292A>G (p.Lys1431Arg) single nucleotide variant Fanconi anemia [RCV001048602]|Inborn genetic diseases [RCV004973290] Chr14:45181499 [GRCh38]
Chr14:45650702 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter) single nucleotide variant Fanconi anemia [RCV001048639] Chr14:45176586 [GRCh38]
Chr14:45645789 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2160+31T>C single nucleotide variant not provided [RCV001574166] Chr14:45170777 [GRCh38]
Chr14:45639980 [GRCh37]
Chr14:14q21.2		 likely benign
NC_000014.9:g.(?_45136032)_(45200008_?)del deletion Fanconi anemia [RCV001031557] Chr14:45605235..45669211 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2629dup (p.Ser877fs) duplication Fanconi anemia [RCV001048780] Chr14:45175381..45175382 [GRCh38]
Chr14:45644584..45644585 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn) single nucleotide variant Fanconi anemia [RCV001045997]|Spermatogenic failure 28 [RCV002479284] Chr14:45200000 [GRCh38]
Chr14:45669203 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1183+221C>T single nucleotide variant not provided [RCV001545742] Chr14:45154273 [GRCh38]
Chr14:45623476 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.124T>A (p.Leu42Met) single nucleotide variant Fanconi anemia [RCV001204542] Chr14:45136155 [GRCh38]
Chr14:45605358 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5399C>A (p.Pro1800Gln) single nucleotide variant Fanconi anemia [RCV001234437]|Inborn genetic diseases [RCV004978171]|not provided [RCV004727021] Chr14:45196230 [GRCh38]
Chr14:45665433 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3971G>A (p.Gly1324Asp) single nucleotide variant Fanconi anemia [RCV001217204] Chr14:45176725 [GRCh38]
Chr14:45645928 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2024A>G (p.Lys675Arg) single nucleotide variant Fanconi anemia [RCV001208344] Chr14:45170610 [GRCh38]
Chr14:45639813 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter) single nucleotide variant FANCM-related disorder [RCV004528375]|Fanconi anemia [RCV001070935]|not provided [RCV001593251] Chr14:45167040 [GRCh38]
Chr14:45636243 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu) single nucleotide variant Fanconi anemia [RCV001070960]|Inborn genetic diseases [RCV004030769]|Spermatogenic failure 28 [RCV002482138] Chr14:45176722 [GRCh38]
Chr14:45645925 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp) single nucleotide variant Fanconi anemia [RCV001068576]|Hereditary cancer-predisposing syndrome [RCV002258126]|Spermatogenic failure 28 [RCV002505652]|not provided [RCV001772301] Chr14:45188894 [GRCh38]
Chr14:45658097 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1393A>T (p.Asn465Tyr) single nucleotide variant Fanconi anemia [RCV001217436]|not provided [RCV002276663] Chr14:45155456 [GRCh38]
Chr14:45624659 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3407T>C (p.Leu1136Ser) single nucleotide variant Fanconi anemia [RCV001041872]|not provided [RCV002511022]|not specified [RCV001819752] Chr14:45176161 [GRCh38]
Chr14:45645364 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2108T>G (p.Ile703Arg) single nucleotide variant Fanconi anemia [RCV001047132]|Inborn genetic diseases [RCV003259052] Chr14:45170694 [GRCh38]
Chr14:45639897 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1264C>T (p.Arg422Cys) single nucleotide variant Fanconi anemia [RCV001215944]|Spermatogenic failure 28 [RCV005012621]|not provided [RCV004783919] Chr14:45154777 [GRCh38]
Chr14:45623980 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln) single nucleotide variant Fanconi anemia [RCV001204952]|Spermatogenic failure 28 [RCV002480668] Chr14:45164515 [GRCh38]
Chr14:45633718 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.291C>G (p.His97Gln) single nucleotide variant FANCM-related disorder [RCV004536111]|Fanconi anemia [RCV001056402]|Hereditary cancer-predisposing syndrome [RCV002258115]|Inborn genetic diseases [RCV003160454]|Spermatogenic failure 28 [RCV002505611]|not provided [RCV001655671] Chr14:45136322 [GRCh38]
Chr14:45605525 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1808C>A (p.Ser603Tyr) single nucleotide variant Fanconi anemia [RCV001216143] Chr14:45166969 [GRCh38]
Chr14:45636172 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3355G>C (p.Asp1119His) single nucleotide variant Fanconi anemia [RCV001050220]|Inborn genetic diseases [RCV004973300]|not provided [RCV001759980] Chr14:45176109 [GRCh38]
Chr14:45645312 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.673T>C (p.Tyr225His) single nucleotide variant Fanconi anemia [RCV001038646]|Inborn genetic diseases [RCV004973260]|not provided [RCV003478667] Chr14:45137233 [GRCh38]
Chr14:45606436 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5901TAA[1] (p.Asn1968del) microsatellite Fanconi anemia [RCV001212297] Chr14:45198828..45198830 [GRCh38]
Chr14:45668031..45668033 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4098A>T (p.Glu1366Asp) single nucleotide variant Fanconi anemia [RCV001219874]|Hereditary cancer-predisposing syndrome [RCV002258163]|Inborn genetic diseases [RCV004978127]|not provided [RCV001760208] Chr14:45176852 [GRCh38]
Chr14:45646055 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2764G>A (p.Val922Met) single nucleotide variant Fanconi anemia [RCV001060863]|not provided [RCV001772281] Chr14:45175518 [GRCh38]
Chr14:45644721 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6102G>A (p.Met2034Ile) single nucleotide variant Fanconi anemia [RCV001201966] Chr14:45199963 [GRCh38]
Chr14:45669166 [GRCh37]
Chr14:14q21.2		 uncertain significance
Single allele insertion Fanconi anemia [RCV001089851] Chr14:14q21.2 pathogenic
NM_020937.4(FANCM):c.4387-6T>C single nucleotide variant Fanconi anemia [RCV001038774]|not provided [RCV001772218] Chr14:45183768 [GRCh38]
Chr14:45652971 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1396+5G>A single nucleotide variant Fanconi anemia [RCV001042769] Chr14:45155464 [GRCh38]
Chr14:45624667 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.853A>G (p.Lys285Glu) single nucleotide variant Fanconi anemia [RCV001061280] Chr14:45148930 [GRCh38]
Chr14:45618133 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2012A>G (p.Gln671Arg) single nucleotide variant Fanconi anemia [RCV001061526] Chr14:45170598 [GRCh38]
Chr14:45639801 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4641T>A (p.Asn1547Lys) single nucleotide variant Fanconi anemia [RCV001051015]|Spermatogenic failure 28 [RCV002505597] Chr14:45185342 [GRCh38]
Chr14:45654545 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.874C>A (p.Pro292Thr) single nucleotide variant Fanconi anemia [RCV001039123]|not provided [RCV003320790] Chr14:45148951 [GRCh38]
Chr14:45618154 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu) single nucleotide variant Fanconi anemia [RCV001061563]|Inborn genetic diseases [RCV004031962]|Spermatogenic failure 28 [RCV002489671]|not provided [RCV004789393] Chr14:45173161 [GRCh38]
Chr14:45642364 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1208T>C (p.Leu403Pro) single nucleotide variant Fanconi anemia [RCV001051128] Chr14:45154721 [GRCh38]
Chr14:45623924 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1501C>G (p.Pro501Ala) single nucleotide variant Fanconi anemia [RCV001053699]|Inborn genetic diseases [RCV004977937] Chr14:45159200 [GRCh38]
Chr14:45628403 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5749_5750del (p.Ser1917fs) microsatellite Fanconi anemia [RCV001233984]|not provided [RCV004998754] Chr14:45198674..45198675 [GRCh38]
Chr14:45667877..45667878 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.3514C>G (p.Leu1172Val) single nucleotide variant Fanconi anemia [RCV001216805] Chr14:45176268 [GRCh38]
Chr14:45645471 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.187G>A (p.Glu63Lys) single nucleotide variant Fanconi anemia [RCV001230416]|not provided [RCV001751449] Chr14:45136218 [GRCh38]
Chr14:45605421 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.364G>T (p.Ala122Ser) single nucleotide variant Fanconi anemia [RCV001235980] Chr14:45136395 [GRCh38]
Chr14:45605598 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3610C>T (p.Arg1204Cys) single nucleotide variant Fanconi anemia [RCV001237351]|not provided [RCV001773539] Chr14:45176364 [GRCh38]
Chr14:45645567 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1056A>G (p.Ile352Met) single nucleotide variant Fanconi anemia [RCV001051340] Chr14:45153925 [GRCh38]
Chr14:45623128 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5545C>A (p.Pro1849Thr) single nucleotide variant FANCM-related disorder [RCV004538489]|Fanconi anemia [RCV001233133]|not provided [RCV002293515] Chr14:45196376 [GRCh38]
Chr14:45665579 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6096A>G (p.Ile2032Met) single nucleotide variant Fanconi anemia [RCV001204811]|Inborn genetic diseases [RCV004619548]|not provided [RCV001760166] Chr14:45199957 [GRCh38]
Chr14:45669160 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NC_000014.9:g.(?_45164349)_(45164575_?)del deletion Fanconi anemia [RCV001032940] Chr14:45633552..45633778 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2190A>T (p.Gln730His) single nucleotide variant Fanconi anemia [RCV001037403]|Spermatogenic failure 28 [RCV005004494]|not provided [RCV001593197] Chr14:45173084 [GRCh38]
Chr14:45642287 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter) single nucleotide variant Fanconi anemia [RCV001040062]|not provided [RCV004998590] Chr14:45164554 [GRCh38]
Chr14:45633757 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.1046T>C (p.Ile349Thr) single nucleotide variant Fanconi anemia [RCV001207878]|Spermatogenic failure 28 [RCV001292998]|Spermatogenic failure 28 [RCV005012606]|not provided [RCV001569260] Chr14:45151524 [GRCh38]
Chr14:45620727 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.9:g.(?_45159086)_(45159290_?)dup duplication Fanconi anemia [RCV004578063] Chr14:45628289..45628493 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn) single nucleotide variant Fanconi anemia [RCV001218026]|Spermatogenic failure 28 [RCV002484185]|not provided [RCV001760204] Chr14:45196179 [GRCh38]
Chr14:45665382 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6028A>G (p.Met2010Val) single nucleotide variant Fanconi anemia [RCV001214792] Chr14:45199889 [GRCh38]
Chr14:45669092 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.389G>A (p.Arg130His) single nucleotide variant Fanconi anemia [RCV001052166]|not provided [RCV004768818] Chr14:45136420 [GRCh38]
Chr14:45605623 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2578_2580del (p.Glu860del) deletion Fanconi anemia [RCV001059097] Chr14:45175330..45175332 [GRCh38]
Chr14:45644533..45644535 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4951G>C (p.Glu1651Gln) single nucleotide variant Fanconi anemia [RCV001235337] Chr14:45188973 [GRCh38]
Chr14:45658176 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys) single nucleotide variant Fanconi anemia [RCV001059368]|Inborn genetic diseases [RCV002554418]|Spermatogenic failure 28 [RCV001294028]|Spermatogenic failure 28 [RCV002482040]|not provided [RCV002275194] Chr14:45148889 [GRCh38]
Chr14:45618092 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.247T>G (p.Trp83Gly) single nucleotide variant Fanconi anemia [RCV001236456] Chr14:45136278 [GRCh38]
Chr14:45605481 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser) single nucleotide variant Fanconi anemia [RCV001041028]|Spermatogenic failure 28 [RCV002497369]|not provided [RCV002274121] Chr14:45170671 [GRCh38]
Chr14:45639874 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1309+5G>T single nucleotide variant Fanconi anemia [RCV001041180]|not provided [RCV003223692] Chr14:45154827 [GRCh38]
Chr14:45624030 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys) single nucleotide variant Fanconi anemia [RCV001228921]|Spermatogenic failure 28 [RCV002504303] Chr14:45175180 [GRCh38]
Chr14:45644383 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2002+5A>G single nucleotide variant FANCM-related disorder [RCV004545133]|Fanconi anemia [RCV001228923]|not provided [RCV001587257] Chr14:45167168 [GRCh38]
Chr14:45636371 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3469G>A (p.Glu1157Lys) single nucleotide variant Fanconi anemia [RCV001048779]|not provided [RCV001545268] Chr14:45176223 [GRCh38]
Chr14:45645426 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5839G>C (p.Glu1947Gln) single nucleotide variant Fanconi anemia [RCV001059615] Chr14:45198766 [GRCh38]
Chr14:45667969 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5672T>C (p.Phe1891Ser) single nucleotide variant Fanconi anemia [RCV001231776] Chr14:45196503 [GRCh38]
Chr14:45665706 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2741A>C (p.Glu914Ala) single nucleotide variant Fanconi anemia [RCV001035007] Chr14:45175495 [GRCh38]
Chr14:45644698 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3092G>T (p.Ser1031Ile) single nucleotide variant Fanconi anemia [RCV001063957] Chr14:45175846 [GRCh38]
Chr14:45645049 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4481G>A (p.Gly1494Asp) single nucleotide variant Fanconi anemia [RCV001064008] Chr14:45183868 [GRCh38]
Chr14:45653071 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5197C>G (p.Gln1733Glu) single nucleotide variant Fanconi anemia [RCV001064009]|not provided [RCV001772289] Chr14:45189219 [GRCh38]
Chr14:45658422 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4928C>T (p.Thr1643Ile) single nucleotide variant Fanconi anemia [RCV001064099] Chr14:45188950 [GRCh38]
Chr14:45658153 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.419T>C (p.Met140Thr) single nucleotide variant Fanconi anemia [RCV001229714] Chr14:45136450 [GRCh38]
Chr14:45605653 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.508+3A>G single nucleotide variant Fanconi anemia [RCV001228992] Chr14:45136542 [GRCh38]
Chr14:45605745 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4949A>T (p.Lys1650Ile) single nucleotide variant Fanconi anemia [RCV001064324]|not provided [RCV003225145] Chr14:45188971 [GRCh38]
Chr14:45658174 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1648T>C (p.Leu550=) single nucleotide variant not provided [RCV001172076] Chr14:45164425 [GRCh38]
Chr14:45633628 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4304_4305insSVAelement insertion Fanconi anemia [RCV001089797] Chr14:45181511..45181512 [GRCh38]
Chr14:45650714..45650715 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr) single nucleotide variant Fanconi anemia [RCV001054993]|Spermatogenic failure 28 [RCV002479334]|not provided [RCV004998613] Chr14:45200004 [GRCh38]
Chr14:45669207 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1742G>A (p.Arg581His) single nucleotide variant Fanconi anemia [RCV001036733]|Spermatogenic failure 28 [RCV002497357]|not provided [RCV001772213] Chr14:45164519 [GRCh38]
Chr14:45633722 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2621T>C (p.Ile874Thr) single nucleotide variant Fanconi anemia [RCV001041002]|not provided [RCV003327485] Chr14:45175375 [GRCh38]
Chr14:45644578 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5917C>T (p.Leu1973Phe) single nucleotide variant Fanconi anemia [RCV001041145]|not provided [RCV001772228] Chr14:45198844 [GRCh38]
Chr14:45668047 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2791A>G (p.Asn931Asp) single nucleotide variant Fanconi anemia [RCV001041636]|not provided [RCV001772230] Chr14:45175545 [GRCh38]
Chr14:45644748 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1032C>A (p.Asn344Lys) single nucleotide variant Fanconi anemia [RCV001037471] Chr14:45151510 [GRCh38]
Chr14:45620713 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5870T>C (p.Val1957Ala) single nucleotide variant Fanconi anemia [RCV001051827]|not provided [RCV001585950] Chr14:45198797 [GRCh38]
Chr14:45668000 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4582T>G (p.Ser1528Ala) single nucleotide variant Fanconi anemia [RCV001211003] Chr14:45185283 [GRCh38]
Chr14:45654486 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter) single nucleotide variant Fanconi anemia [RCV001062579]|not provided [RCV003317425] Chr14:45175332 [GRCh38]
Chr14:45644535 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe) single nucleotide variant FANCM-related disorder [RCV004528367]|Fanconi anemia [RCV001062620]|Spermatogenic failure 28 [RCV002489678]|not provided [RCV001577673] Chr14:45198878 [GRCh38]
Chr14:45668081 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu) single nucleotide variant Fanconi anemia [RCV001062932]|Spermatogenic failure 28 [RCV002482072] Chr14:45136429 [GRCh38]
Chr14:45605632 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.635T>A (p.Val212Asp) single nucleotide variant Fanconi anemia [RCV001062940] Chr14:45137195 [GRCh38]
Chr14:45606398 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys) single nucleotide variant Fanconi anemia [RCV001215621]|Spermatogenic failure 28 [RCV002491666]|not provided [RCV001569563] Chr14:45136419 [GRCh38]
Chr14:45605622 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4504A>G (p.Ser1502Gly) single nucleotide variant Fanconi anemia [RCV001229501] Chr14:45183891 [GRCh38]
Chr14:45653094 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4798A>G (p.Thr1600Ala) single nucleotide variant Fanconi anemia [RCV001048210]|not provided [RCV003236860] Chr14:45188820 [GRCh38]
Chr14:45658023 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2596C>T (p.Leu866Phe) single nucleotide variant Fanconi anemia [RCV001038202]|not provided [RCV001664631] Chr14:45175350 [GRCh38]
Chr14:45644553 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1224C>G (p.Asp408Glu) single nucleotide variant Fanconi anemia [RCV001052983] Chr14:45154737 [GRCh38]
Chr14:45623940 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.698T>C (p.Val233Ala) single nucleotide variant Fanconi anemia [RCV001056975] Chr14:45140648 [GRCh38]
Chr14:45609851 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1765C>T (p.Leu589Phe) single nucleotide variant Fanconi anemia [RCV001063102]|not provided [RCV003156313] Chr14:45164542 [GRCh38]
Chr14:45633745 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4213T>G (p.Ser1405Ala) single nucleotide variant Fanconi anemia [RCV001063103] Chr14:45176967 [GRCh38]
Chr14:45646170 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.221G>C (p.Gly74Ala) single nucleotide variant Fanconi anemia [RCV001232690] Chr14:45136252 [GRCh38]
Chr14:45605455 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2804G>T (p.Ser935Ile) single nucleotide variant Fanconi anemia [RCV001057180]|Inborn genetic diseases [RCV004977950] Chr14:45175558 [GRCh38]
Chr14:45644761 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2518G>A (p.Val840Ile) single nucleotide variant FANCM-related disorder [RCV004536124]|Fanconi anemia [RCV001063176]|Inborn genetic diseases [RCV004977971]|Spermatogenic failure 28 [RCV001293943]|Spermatogenic failure 28 [RCV005012514]|not provided [RCV003227000] Chr14:45175272 [GRCh38]
Chr14:45644475 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1711G>A (p.Val571Ile) single nucleotide variant Fanconi anemia [RCV001038390]|not provided [RCV003478666] Chr14:45164488 [GRCh38]
Chr14:45633691 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His) single nucleotide variant Fanconi anemia [RCV001063601]|Spermatogenic failure 28 [RCV002482076] Chr14:45176279 [GRCh38]
Chr14:45645482 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.275G>A (p.Arg92Gln) single nucleotide variant Fanconi anemia [RCV001063649] Chr14:45136306 [GRCh38]
Chr14:45605509 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1178C>T (p.Thr393Ile) single nucleotide variant Fanconi anemia [RCV001246111] Chr14:45154047 [GRCh38]
Chr14:45623250 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu) single nucleotide variant Fanconi anemia [RCV001246261]|Hereditary cancer-predisposing syndrome [RCV002256721]|Spermatogenic failure 28 [RCV002480840]|not provided [RCV001760283] Chr14:45176125 [GRCh38]
Chr14:45645328 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3175T>C (p.Tyr1059His) single nucleotide variant Fanconi anemia [RCV001039219] Chr14:45175929 [GRCh38]
Chr14:45645132 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2003-3T>C single nucleotide variant FANCM-related disorder [RCV004738125]|Fanconi anemia [RCV001039366]|Spermatogenic failure 28 [RCV001293941]|not provided [RCV002479251] Chr14:45170586 [GRCh38]
Chr14:45639789 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.5023GAG[2] (p.Glu1677del) microsatellite Fanconi anemia [RCV001349748]|not provided [RCV002272455] Chr14:45189045..45189047 [GRCh38]
Chr14:45658248..45658250 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.541T>C (p.Trp181Arg) single nucleotide variant Fanconi anemia [RCV001294741] Chr14:45137101 [GRCh38]
Chr14:45606304 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1876C>T (p.Pro626Ser) single nucleotide variant Fanconi anemia [RCV001313554]|not provided [RCV003120547] Chr14:45167037 [GRCh38]
Chr14:45636240 [GRCh37]
Chr14:14q21.2		 uncertain significance
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_020937.4(FANCM):c.1186A>C (p.Met396Leu) single nucleotide variant Fanconi anemia [RCV001348272] Chr14:45154699 [GRCh38]
Chr14:45623902 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2029G>A (p.Asp677Asn) single nucleotide variant Fanconi anemia [RCV001312637] Chr14:45170615 [GRCh38]
Chr14:45639818 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly) single nucleotide variant Fanconi anemia [RCV001313176]|Spermatogenic failure 28 [RCV002493636]|not provided [RCV002476446] Chr14:45176974 [GRCh38]
Chr14:45646177 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3650A>C (p.His1217Pro) single nucleotide variant Fanconi anemia [RCV001303686] Chr14:45176404 [GRCh38]
Chr14:45645607 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3889C>T (p.Pro1297Ser) single nucleotide variant Fanconi anemia [RCV002002125] Chr14:45176643 [GRCh38]
Chr14:45645846 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2815G>A (p.Gly939Arg) single nucleotide variant Fanconi anemia [RCV001306712]|Spermatogenic failure 28 [RCV005012751] Chr14:45175569 [GRCh38]
Chr14:45644772 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.575A>T (p.Gln192Leu) single nucleotide variant Fanconi anemia [RCV001338061]|Premature ovarian failure 15 [RCV004595595]|not provided [RCV001568753] Chr14:45137135 [GRCh38]
Chr14:45606338 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance|not provided
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu) single nucleotide variant Fanconi anemia [RCV001319838]|Spermatogenic failure 28 [RCV002476494] Chr14:45175941 [GRCh38]
Chr14:45645144 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45618030)_(45633778_?)del deletion Fanconi anemia [RCV001316559] Chr14:45618030..45633778 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4972G>C (p.Ala1658Pro) single nucleotide variant Fanconi anemia [RCV001314195] Chr14:45188994 [GRCh38]
Chr14:45658197 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2122G>A (p.Val708Ile) single nucleotide variant Fanconi anemia [RCV001308202]|Inborn genetic diseases [RCV004978292] Chr14:45170708 [GRCh38]
Chr14:45639911 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6019G>A (p.Glu2007Lys) single nucleotide variant Fanconi anemia [RCV001304855]|not provided [RCV001751584] Chr14:45199880 [GRCh38]
Chr14:45669083 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2005A>T (p.Met669Leu) single nucleotide variant Fanconi anemia [RCV001314347] Chr14:45170591 [GRCh38]
Chr14:45639794 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5741G>A (p.Arg1914Lys) single nucleotide variant Fanconi anemia [RCV001298843]|Inborn genetic diseases [RCV004619604] Chr14:45198668 [GRCh38]
Chr14:45667871 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.851G>A (p.Arg284Lys) single nucleotide variant Fanconi anemia [RCV001307767] Chr14:45148928 [GRCh38]
Chr14:45618131 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4375C>G (p.Pro1459Ala) single nucleotide variant Fanconi anemia [RCV001300991] Chr14:45181694 [GRCh38]
Chr14:45650897 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.106G>A (p.Gly36Ser) single nucleotide variant Fanconi anemia [RCV001314401] Chr14:45136137 [GRCh38]
Chr14:45605340 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3578A>C (p.Gln1193Pro) single nucleotide variant Fanconi anemia [RCV001342598] Chr14:45176332 [GRCh38]
Chr14:45645535 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5291C>T (p.Thr1764Ile) single nucleotide variant Fanconi anemia [RCV001296208]|not provided [RCV004727090] Chr14:45189313 [GRCh38]
Chr14:45658516 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.263A>G (p.Asn88Ser) single nucleotide variant Fanconi anemia [RCV001340079]|Spermatogenic failure 28 [RCV005005838] Chr14:45136294 [GRCh38]
Chr14:45605497 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4641del (p.Asn1547fs) deletion Spermatogenic failure 28 [RCV001292896] Chr14:45185342 [GRCh38]
Chr14:45654545 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1071C>G (p.Ile357Met) single nucleotide variant Fanconi anemia [RCV001340345]|not provided [RCV001773678] Chr14:45153940 [GRCh38]
Chr14:45623143 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val) single nucleotide variant Fanconi anemia [RCV001871748]|Spermatogenic failure 28 [RCV001293945]|not provided [RCV003442827] Chr14:45175849 [GRCh38]
Chr14:45645052 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.655G>A (p.Ala219Thr) single nucleotide variant Fanconi anemia [RCV001342289] Chr14:45137215 [GRCh38]
Chr14:45606418 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1954C>G (p.Pro652Ala) single nucleotide variant FANCM-related disorder [RCV004545193]|Fanconi anemia [RCV001302798]|not provided [RCV003313210] Chr14:45167115 [GRCh38]
Chr14:45636318 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2584A>G (p.Lys862Glu) single nucleotide variant Fanconi anemia [RCV001305839] Chr14:45175338 [GRCh38]
Chr14:45644541 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2920G>A (p.Asp974Asn) single nucleotide variant Fanconi anemia [RCV001306708] Chr14:45175674 [GRCh38]
Chr14:45644877 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1628C>T (p.Thr543Ile) single nucleotide variant Fanconi anemia [RCV001308967] Chr14:45164405 [GRCh38]
Chr14:45633608 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2049A>T (p.Glu683Asp) single nucleotide variant Fanconi anemia [RCV001342471] Chr14:45170635 [GRCh38]
Chr14:45639838 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4352A>T (p.His1451Leu) single nucleotide variant Fanconi anemia [RCV001303020] Chr14:45181671 [GRCh38]
Chr14:45650874 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5753A>G (p.Tyr1918Cys) single nucleotide variant Fanconi anemia [RCV001299492] Chr14:45198680 [GRCh38]
Chr14:45667883 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser) single nucleotide variant Fanconi anemia [RCV001318378]|Spermatogenic failure 28 [RCV002486258]|not provided [RCV002509661] Chr14:45176437 [GRCh38]
Chr14:45645640 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.298C>T (p.Arg100Trp) single nucleotide variant Fanconi anemia [RCV001306458] Chr14:45136329 [GRCh38]
Chr14:45605532 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3176A>T (p.Tyr1059Phe) single nucleotide variant Fanconi anemia [RCV001325068] Chr14:45175930 [GRCh38]
Chr14:45645133 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile) single nucleotide variant Fanconi anemia [RCV001315620]|Spermatogenic failure 28 [RCV002476467]|not provided [RCV001773630] Chr14:45196364 [GRCh38]
Chr14:45665567 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile) single nucleotide variant Fanconi anemia [RCV001306587]|Spermatogenic failure 28 [RCV002493609]|not provided [RCV001664817] Chr14:45176860 [GRCh38]
Chr14:45646063 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.272T>C (p.Val91Ala) single nucleotide variant Fanconi anemia [RCV001297136] Chr14:45136303 [GRCh38]
Chr14:45605506 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1310-87A>G single nucleotide variant not provided [RCV001539278] Chr14:45155286 [GRCh38]
Chr14:45624489 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2760G>A (p.Pro920=) single nucleotide variant Fanconi anemia [RCV001391679]|Inborn genetic diseases [RCV004980412]|not provided [RCV001556883] Chr14:45175514 [GRCh38]
Chr14:45644717 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.177C>T (p.Val59=) single nucleotide variant Fanconi anemia [RCV001432990] Chr14:45136208 [GRCh38]
Chr14:45605411 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys) single nucleotide variant FANCM-related disorder [RCV004528456]|Fanconi anemia [RCV001308069]|Inborn genetic diseases [RCV004034155]|Spermatogenic failure 28 [RCV002486204]|not provided [RCV004590312] Chr14:45164482 [GRCh38]
Chr14:45633685 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.605C>T (p.Ala202Val) single nucleotide variant Fanconi anemia [RCV001373976] Chr14:45137165 [GRCh38]
Chr14:45606368 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2161-5T>C single nucleotide variant Fanconi anemia [RCV001373999] Chr14:45173050 [GRCh38]
Chr14:45642253 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5443G>A (p.Gly1815Arg) single nucleotide variant Fanconi anemia [RCV001361420] Chr14:45196274 [GRCh38]
Chr14:45665477 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.787C>A (p.Leu263Ile) single nucleotide variant Fanconi anemia [RCV001374080] Chr14:45148864 [GRCh38]
Chr14:45618067 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4359C>G (p.Val1453=) single nucleotide variant Fanconi anemia [RCV001396671] Chr14:45181678 [GRCh38]
Chr14:45650881 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.63G>C (p.Gly21=) single nucleotide variant Fanconi anemia [RCV001392855] Chr14:45136094 [GRCh38]
Chr14:45605297 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4536A>G (p.Leu1512=) single nucleotide variant Fanconi anemia [RCV001414799]|Inborn genetic diseases [RCV004980456] Chr14:45185237 [GRCh38]
Chr14:45654440 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1439T>C (p.Met480Thr) single nucleotide variant Fanconi anemia [RCV001369322] Chr14:45159138 [GRCh38]
Chr14:45628341 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2613T>G (p.Asn871Lys) single nucleotide variant Fanconi anemia [RCV001369550]|Inborn genetic diseases [RCV004619676]|not provided [RCV004728682] Chr14:45175367 [GRCh38]
Chr14:45644570 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4664C>G (p.Ala1555Gly) single nucleotide variant Fanconi anemia [RCV001369668] Chr14:45185365 [GRCh38]
Chr14:45654568 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4779+1del deletion Fanconi anemia [RCV001382362] Chr14:45187887 [GRCh38]
Chr14:45657090 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3037A>G (p.Lys1013Glu) single nucleotide variant Fanconi anemia [RCV001358882]|not provided [RCV004998849]|not specified [RCV001820058] Chr14:45175791 [GRCh38]
Chr14:45644994 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4162C>G (p.Leu1388Val) single nucleotide variant Fanconi anemia [RCV001362431] Chr14:45176916 [GRCh38]
Chr14:45646119 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1602C>T (p.Asp534=) single nucleotide variant Fanconi anemia [RCV001433127]|Inborn genetic diseases [RCV004980476]|not provided [RCV001558992] Chr14:45164379 [GRCh38]
Chr14:45633582 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4456G>A (p.Val1486Ile) single nucleotide variant Fanconi anemia [RCV001297971]|not provided [RCV004998798] Chr14:45183843 [GRCh38]
Chr14:45653046 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg) single nucleotide variant Fanconi anemia [RCV001317227]|Spermatogenic failure 28 [RCV001292683] Chr14:45188968 [GRCh38]
Chr14:45658171 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.924G>A (p.Leu308=) single nucleotide variant Fanconi anemia [RCV001396999]|not provided [RCV003478813] Chr14:45151402 [GRCh38]
Chr14:45620605 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5631G>C (p.Lys1877Asn) single nucleotide variant Fanconi anemia [RCV001359712]|Inborn genetic diseases [RCV004978404]|not provided [RCV003478795] Chr14:45196462 [GRCh38]
Chr14:45665665 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.15A>G (p.Gln5=) single nucleotide variant Fanconi anemia [RCV001395696]|Inborn genetic diseases [RCV004980419] Chr14:45136046 [GRCh38]
Chr14:45605249 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2571G>A (p.Val857=) single nucleotide variant Fanconi anemia [RCV001414319] Chr14:45175325 [GRCh38]
Chr14:45644528 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2672A>G (p.Gln891Arg) single nucleotide variant Fanconi anemia [RCV001307912] Chr14:45175426 [GRCh38]
Chr14:45644629 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.80C>T (p.Ser27Phe) single nucleotide variant Fanconi anemia [RCV001302769] Chr14:45136111 [GRCh38]
Chr14:45605314 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3662T>C (p.Phe1221Ser) single nucleotide variant Fanconi anemia [RCV001369717]|not provided [RCV001762645] Chr14:45176416 [GRCh38]
Chr14:45645619 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala) single nucleotide variant Fanconi anemia [RCV001358860]|Spermatogenic failure 28 [RCV002504584]|not provided [RCV001561523] Chr14:45173130 [GRCh38]
Chr14:45642333 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5782G>A (p.Ala1928Thr) single nucleotide variant Fanconi anemia [RCV001359066]|not provided [RCV003159205] Chr14:45198709 [GRCh38]
Chr14:45667912 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4367G>T (p.Arg1456Leu) single nucleotide variant Fanconi anemia [RCV001349485]|not provided [RCV004770087] Chr14:45181686 [GRCh38]
Chr14:45650889 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3455T>C (p.Leu1152Ser) single nucleotide variant Fanconi anemia [RCV001349732]|not provided [RCV004998846] Chr14:45176209 [GRCh38]
Chr14:45645412 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3883A>G (p.Ile1295Val) single nucleotide variant Fanconi anemia [RCV001370647] Chr14:45176637 [GRCh38]
Chr14:45645840 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1309+10T>G single nucleotide variant Fanconi anemia [RCV001397537] Chr14:45154832 [GRCh38]
Chr14:45624035 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1074G>C (p.Glu358Asp) single nucleotide variant Spermatogenic failure 28 [RCV001293938] Chr14:45153943 [GRCh38]
Chr14:45623146 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3308A>C (p.His1103Pro) single nucleotide variant Fanconi anemia [RCV001303655]|not provided [RCV003478768] Chr14:45176062 [GRCh38]
Chr14:45645265 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu) single nucleotide variant Fanconi anemia [RCV001370324]|Spermatogenic failure 28 [RCV002488160]|not provided [RCV003156343] Chr14:45167056 [GRCh38]
Chr14:45636259 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3725A>G (p.Asp1242Gly) single nucleotide variant Fanconi anemia [RCV001351461]|Inborn genetic diseases [RCV004978393] Chr14:45176479 [GRCh38]
Chr14:45645682 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1841G>C (p.Ser614Thr) single nucleotide variant Fanconi anemia [RCV001351495] Chr14:45167002 [GRCh38]
Chr14:45636205 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3218A>G (p.Asn1073Ser) single nucleotide variant Fanconi anemia [RCV001337466] Chr14:45175972 [GRCh38]
Chr14:45645175 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1282G>C (p.Ala428Pro) single nucleotide variant Fanconi anemia [RCV001362126] Chr14:45154795 [GRCh38]
Chr14:45623998 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.9:g.45135819G>T single nucleotide variant not provided [RCV001581421] Chr14:45135819 [GRCh38]
Chr14:45605022 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2177C>T (p.Thr726Ile) single nucleotide variant Fanconi anemia [RCV001351944] Chr14:45173071 [GRCh38]
Chr14:45642274 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5578C>T (p.Arg1860Cys) single nucleotide variant Fanconi anemia [RCV001372075]|not provided [RCV002298939] Chr14:45196409 [GRCh38]
Chr14:45665612 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5708A>G (p.Glu1903Gly) single nucleotide variant Fanconi anemia [RCV001344629]|Inborn genetic diseases [RCV004978373]|not provided [RCV003442862] Chr14:45196539 [GRCh38]
Chr14:45665742 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5068G>A (p.Val1690Ile) single nucleotide variant Fanconi anemia [RCV001322799]|not provided [RCV001527777]|not specified [RCV001820015] Chr14:45189090 [GRCh38]
Chr14:45658293 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr) single nucleotide variant Fanconi anemia [RCV001323817]|Spermatogenic failure 28 [RCV002499632]|not provided [RCV003313215] Chr14:45155436 [GRCh38]
Chr14:45624639 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.307C>G (p.Leu103Val) single nucleotide variant Fanconi anemia [RCV001368929]|Spermatogenic failure 28 [RCV002493880]|not provided [RCV001571693] Chr14:45136338 [GRCh38]
Chr14:45605541 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del) microsatellite Fanconi anemia [RCV001337607]|Spermatogenic failure 28 [RCV002504527]|not provided [RCV001545569] Chr14:45198817..45198819 [GRCh38]
Chr14:45668020..45668022 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4979C>T (p.Ser1660Leu) single nucleotide variant Fanconi anemia [RCV001337626] Chr14:45189001 [GRCh38]
Chr14:45658204 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2869T>C (p.Ser957Pro) single nucleotide variant Fanconi anemia [RCV001340510] Chr14:45175623 [GRCh38]
Chr14:45644826 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu) single nucleotide variant Fanconi anemia [RCV001309480]|Hereditary cancer-predisposing syndrome [RCV002255645]|Spermatogenic failure 28 [RCV002476431]|not provided [RCV001358157] Chr14:45189226 [GRCh38]
Chr14:45658429 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1353G>T (p.Lys451Asn) single nucleotide variant Fanconi anemia [RCV001341954]|Inborn genetic diseases [RCV004978364]|not provided [RCV002511080] Chr14:45155416 [GRCh38]
Chr14:45624619 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.871G>A (p.Val291Ile) single nucleotide variant Fanconi anemia [RCV001368409] Chr14:45148948 [GRCh38]
Chr14:45618151 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1603G>A (p.Gly535Ser) single nucleotide variant Fanconi anemia [RCV001362713]|not provided [RCV001773719] Chr14:45164380 [GRCh38]
Chr14:45633583 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4651C>G (p.Gln1551Glu) single nucleotide variant Fanconi anemia [RCV001321621] Chr14:45185352 [GRCh38]
Chr14:45654555 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1361AAG[1] (p.Glu455del) microsatellite Fanconi anemia [RCV001345774]|not provided [RCV004998841] Chr14:45155422..45155424 [GRCh38]
Chr14:45624625..45624627 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu) single nucleotide variant Fanconi anemia [RCV001323949]|Spermatogenic failure 28 [RCV002499634]|not provided [RCV001760411] Chr14:45159189 [GRCh38]
Chr14:45628392 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3769GAT[1] (p.Asp1258del) microsatellite Fanconi anemia [RCV001371244] Chr14:45176523..45176525 [GRCh38]
Chr14:45645726..45645728 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1516A>G (p.Met506Val) single nucleotide variant Fanconi anemia [RCV001312646] Chr14:45159215 [GRCh38]
Chr14:45628418 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45633552)_(45633778_?)del deletion Fanconi anemia [RCV001305482] Chr14:45633552..45633778 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2257G>T (p.Asp753Tyr) single nucleotide variant Fanconi anemia [RCV001301617] Chr14:45173151 [GRCh38]
Chr14:45642354 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.877C>T (p.Leu293Phe) single nucleotide variant Fanconi anemia [RCV001344842] Chr14:45148954 [GRCh38]
Chr14:45618157 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1735C>T (p.Arg579Cys) single nucleotide variant Fanconi anemia [RCV001346683] Chr14:45164512 [GRCh38]
Chr14:45633715 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2095G>T (p.Glu699Ter) single nucleotide variant Spermatogenic failure 28 [RCV001293942] Chr14:45170681 [GRCh38]
Chr14:45639884 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.6030G>A (p.Met2010Ile) single nucleotide variant Fanconi anemia [RCV001325445] Chr14:45199891 [GRCh38]
Chr14:45669094 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4913G>A (p.Ser1638Asn) single nucleotide variant Fanconi anemia [RCV001365105] Chr14:45188935 [GRCh38]
Chr14:45658138 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3831T>A (p.Asn1277Lys) single nucleotide variant Fanconi anemia [RCV001303879] Chr14:45176585 [GRCh38]
Chr14:45645788 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1310G>C (p.Gly437Ala) single nucleotide variant Fanconi anemia [RCV001337985] Chr14:45155373 [GRCh38]
Chr14:45624576 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4681A>G (p.Met1561Val) single nucleotide variant Fanconi anemia [RCV001365180] Chr14:45187789 [GRCh38]
Chr14:45656992 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3433G>A (p.Asp1145Asn) single nucleotide variant Fanconi anemia [RCV001343967]|not provided [RCV004762108] Chr14:45176187 [GRCh38]
Chr14:45645390 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.941C>G (p.Ser314Cys) single nucleotide variant Fanconi anemia [RCV001322040] Chr14:45151419 [GRCh38]
Chr14:45620622 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3232C>T (p.Pro1078Ser) single nucleotide variant Fanconi anemia [RCV001318978]|Inborn genetic diseases [RCV004034951]|not provided [RCV001760393] Chr14:45175986 [GRCh38]
Chr14:45645189 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1295C>T (p.Ser432Phe) single nucleotide variant Fanconi anemia [RCV001338992] Chr14:45154808 [GRCh38]
Chr14:45624011 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4871G>T (p.Cys1624Phe) single nucleotide variant Fanconi anemia [RCV001344116]|Inborn genetic diseases [RCV004978370]|not provided [RCV001773687] Chr14:45188893 [GRCh38]
Chr14:45658096 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1528G>T (p.Gly510Cys) single nucleotide variant Fanconi anemia [RCV001322204] Chr14:45159227 [GRCh38]
Chr14:45628430 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2423C>T (p.Thr808Ile) single nucleotide variant Fanconi anemia [RCV001347342] Chr14:45175177 [GRCh38]
Chr14:45644380 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.240C>T (p.Gly80=) single nucleotide variant Fanconi anemia [RCV001322307] Chr14:45136271 [GRCh38]
Chr14:45605474 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn) single nucleotide variant Fanconi anemia [RCV001346222]|Spermatogenic failure 28 [RCV002499693] Chr14:45136510 [GRCh38]
Chr14:45605713 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1822A>G (p.Ile608Val) single nucleotide variant Fanconi anemia [RCV001347436]|Inborn genetic diseases [RCV004978384]|not provided [RCV001786478] Chr14:45166983 [GRCh38]
Chr14:45636186 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2215T>C (p.Trp739Arg) single nucleotide variant Fanconi anemia [RCV001324942]|not provided [RCV004727143] Chr14:45173109 [GRCh38]
Chr14:45642312 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.362C>T (p.Ala121Val) single nucleotide variant Fanconi anemia [RCV001305900]|Hereditary cancer-predisposing syndrome [RCV002256736]|not provided [RCV002274184] Chr14:45136393 [GRCh38]
Chr14:45605596 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.548G>A (p.Ser183Asn) single nucleotide variant Fanconi anemia [RCV001326891] Chr14:45137108 [GRCh38]
Chr14:45606311 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3736T>G (p.Leu1246Val) single nucleotide variant Fanconi anemia [RCV001339933] Chr14:45176490 [GRCh38]
Chr14:45645693 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.710A>G (p.Asn237Ser) single nucleotide variant Fanconi anemia [RCV001308882] Chr14:45140660 [GRCh38]
Chr14:45609863 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2244A>G (p.Gln748=) single nucleotide variant Fanconi anemia [RCV001341324]|not specified [RCV001820040] Chr14:45173138 [GRCh38]
Chr14:45642341 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5584G>A (p.Val1862Met) single nucleotide variant Fanconi anemia [RCV001324829] Chr14:45196415 [GRCh38]
Chr14:45665618 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala) single nucleotide variant Fanconi anemia [RCV001317989]|Spermatogenic failure 28 [RCV002476482] Chr14:45159149 [GRCh38]
Chr14:45628352 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4405G>T (p.Asp1469Tyr) single nucleotide variant Fanconi anemia [RCV001342951] Chr14:45183792 [GRCh38]
Chr14:45652995 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3193T>G (p.Cys1065Gly) single nucleotide variant Fanconi anemia [RCV001343013] Chr14:45175947 [GRCh38]
Chr14:45645150 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5305C>G (p.Gln1769Glu) single nucleotide variant Fanconi anemia [RCV001321073]|Inborn genetic diseases [RCV004978322] Chr14:45189327 [GRCh38]
Chr14:45658530 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2358A>C (p.Gln786His) single nucleotide variant Fanconi anemia [RCV001347917] Chr14:45175112 [GRCh38]
Chr14:45644315 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2530C>T (p.His844Tyr) single nucleotide variant Fanconi anemia [RCV001363642]|Spermatogenic failure 28 [RCV002488115]|not provided [RCV004779097] Chr14:45175284 [GRCh38]
Chr14:45644487 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1364A>C (p.Glu455Ala) single nucleotide variant Fanconi anemia [RCV001307211] Chr14:45155427 [GRCh38]
Chr14:45624630 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3152T>C (p.Leu1051Ser) single nucleotide variant Fanconi anemia [RCV001300930] Chr14:45175906 [GRCh38]
Chr14:45645109 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2692A>G (p.Lys898Glu) single nucleotide variant Fanconi anemia [RCV001323601] Chr14:45175446 [GRCh38]
Chr14:45644649 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4004A>C (p.Lys1335Thr) single nucleotide variant Fanconi anemia [RCV001373193] Chr14:45176758 [GRCh38]
Chr14:45645961 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2003-5T>G single nucleotide variant Fanconi anemia [RCV001870692] Chr14:45170584 [GRCh38]
Chr14:45639787 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.620A>T (p.Glu207Val) single nucleotide variant Fanconi anemia [RCV001344545] Chr14:45137180 [GRCh38]
Chr14:45606383 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr) single nucleotide variant Fanconi anemia [RCV001344615]|Inborn genetic diseases [RCV004978372]|Spermatogenic failure 28 [RCV002476590]|not provided [RCV001550461] Chr14:45151412 [GRCh38]
Chr14:45620615 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val) single nucleotide variant Fanconi anemia [RCV001345585]|Spermatogenic failure 28 [RCV002476592]|not provided [RCV004762110] Chr14:45175372 [GRCh38]
Chr14:45644575 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2599A>G (p.Lys867Glu) single nucleotide variant Fanconi anemia [RCV001317532] Chr14:45175353 [GRCh38]
Chr14:45644556 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3664G>C (p.Asp1222His) single nucleotide variant Fanconi anemia [RCV001299866] Chr14:45176418 [GRCh38]
Chr14:45645621 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter) single nucleotide variant Fanconi anemia [RCV001389938]|not provided [RCV001311010] Chr14:45176652 [GRCh38]
Chr14:45645855 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.2289A>G (p.Gln763=) single nucleotide variant Fanconi anemia [RCV001325306]|not provided [RCV003478783] Chr14:45173183 [GRCh38]
Chr14:45642386 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3616C>G (p.Gln1206Glu) single nucleotide variant Fanconi anemia [RCV001308850]|Inborn genetic diseases [RCV002543249] Chr14:45176370 [GRCh38]
Chr14:45645573 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1951A>C (p.Lys651Gln) single nucleotide variant Fanconi anemia [RCV001308969] Chr14:45167112 [GRCh38]
Chr14:45636315 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1185G>C (p.Gly395=) single nucleotide variant Fanconi anemia [RCV001395937] Chr14:45154698 [GRCh38]
Chr14:45623901 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3799A>C (p.Lys1267Gln) single nucleotide variant Fanconi anemia [RCV001296184] Chr14:45176553 [GRCh38]
Chr14:45645756 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly) single nucleotide variant Fanconi anemia [RCV001340459]|Spermatogenic failure 28 [RCV002486372]|not provided [RCV004998832] Chr14:45167007 [GRCh38]
Chr14:45636210 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4464C>T (p.Asn1488=) single nucleotide variant Fanconi anemia [RCV001413941]|Inborn genetic diseases [RCV004980454]|not provided [RCV003326570] Chr14:45183851 [GRCh38]
Chr14:45653054 [GRCh37]
Chr14:14q21.2		 likely benign
GRCh37/hg19 14q21.2(chr14:45528916-46473581)x3 copy number gain not provided [RCV001270651] Chr14:45528916..46473581 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys) single nucleotide variant Fanconi anemia [RCV001316451]|Inborn genetic diseases [RCV004978305]|Spermatogenic failure 28 [RCV002476474]|not provided [RCV003478773] Chr14:45175509 [GRCh38]
Chr14:45644712 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4187_4189dup (p.Pro1396_Met1397insThr) duplication Fanconi anemia [RCV001340766] Chr14:45176940..45176941 [GRCh38]
Chr14:45646143..45646144 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4741A>G (p.Ile1581Val) single nucleotide variant Fanconi anemia [RCV001316095] Chr14:45187849 [GRCh38]
Chr14:45657052 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5297T>C (p.Val1766Ala) single nucleotide variant Fanconi anemia [RCV001318769] Chr14:45189319 [GRCh38]
Chr14:45658522 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.963G>C (p.Leu321Phe) single nucleotide variant Fanconi anemia [RCV001367075]|Spermatogenic failure 28 [RCV005005213]|not provided [RCV003478799] Chr14:45151441 [GRCh38]
Chr14:45620644 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4184G>T (p.Gly1395Val) single nucleotide variant Fanconi anemia [RCV001327503]|not provided [RCV004770057] Chr14:45176938 [GRCh38]
Chr14:45646141 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.682-4T>C single nucleotide variant Fanconi anemia [RCV001395718] Chr14:45140628 [GRCh38]
Chr14:45609831 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4057A>G (p.Ile1353Val) single nucleotide variant Fanconi anemia [RCV001297618]|not provided [RCV003478765] Chr14:45176811 [GRCh38]
Chr14:45646014 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2843G>A (p.Ser948Asn) single nucleotide variant Fanconi anemia [RCV001307704] Chr14:45175597 [GRCh38]
Chr14:45644800 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5174A>G (p.Asn1725Ser) single nucleotide variant FANCM-related disorder [RCV004727118]|Fanconi anemia [RCV001307707] Chr14:45189196 [GRCh38]
Chr14:45658399 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.642T>A (p.Asp214Glu) single nucleotide variant Fanconi anemia [RCV001298350] Chr14:45137202 [GRCh38]
Chr14:45606405 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.920T>C (p.Ile307Thr) single nucleotide variant Fanconi anemia [RCV001361049] Chr14:45151398 [GRCh38]
Chr14:45620601 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2062T>C (p.Trp688Arg) single nucleotide variant Fanconi anemia [RCV001339070] Chr14:45170648 [GRCh38]
Chr14:45639851 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.410T>C (p.Val137Ala) single nucleotide variant Fanconi anemia [RCV001372127]|Inborn genetic diseases [RCV004980404]|Spermatogenic failure 28 [RCV002493894]|not provided [RCV003227969] Chr14:45136441 [GRCh38]
Chr14:45605644 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.286C>T (p.Leu96=) single nucleotide variant Fanconi anemia [RCV001494726]|Inborn genetic diseases [RCV004980558] Chr14:45136317 [GRCh38]
Chr14:45605520 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2673A>G (p.Gln891=) single nucleotide variant Fanconi anemia [RCV001359542] Chr14:45175427 [GRCh38]
Chr14:45644630 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser) single nucleotide variant Fanconi anemia [RCV001349240]|Spermatogenic failure 28 [RCV002476607]|not provided [RCV001773698] Chr14:45175603 [GRCh38]
Chr14:45644806 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5341-3C>T single nucleotide variant Fanconi anemia [RCV001317124] Chr14:45196169 [GRCh38]
Chr14:45665372 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.695T>A (p.Leu232Gln) single nucleotide variant Fanconi anemia [RCV001365594] Chr14:45140645 [GRCh38]
Chr14:45609848 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1035A>G (p.Pro345=) single nucleotide variant Fanconi anemia [RCV001494499] Chr14:45151513 [GRCh38]
Chr14:45620716 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.778A>G (p.Thr260Ala) single nucleotide variant Fanconi anemia [RCV001312816] Chr14:45148855 [GRCh38]
Chr14:45618058 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5997G>C (p.Arg1999Ser) single nucleotide variant Fanconi anemia [RCV001315797] Chr14:45198924 [GRCh38]
Chr14:45668127 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2635G>C (p.Asp879His) single nucleotide variant Fanconi anemia [RCV001339393]|not provided [RCV004770075] Chr14:45175389 [GRCh38]
Chr14:45644592 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5568C>T (p.Ile1856=) single nucleotide variant Fanconi anemia [RCV001450148]|Inborn genetic diseases [RCV004980502]|not provided [RCV003478837] Chr14:45196399 [GRCh38]
Chr14:45665602 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2079A>G (p.Arg693=) single nucleotide variant Fanconi anemia [RCV001395399] Chr14:45170665 [GRCh38]
Chr14:45639868 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg) single nucleotide variant Fanconi anemia [RCV001339715]|Spermatogenic failure 28 [RCV002493744] Chr14:45175082 [GRCh38]
Chr14:45644285 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4763T>C (p.Ile1588Thr) single nucleotide variant Fanconi anemia [RCV001365831] Chr14:45187871 [GRCh38]
Chr14:45657074 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3500T>C (p.Ile1167Thr) single nucleotide variant Fanconi anemia [RCV001337521] Chr14:45176254 [GRCh38]
Chr14:45645457 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1527C>T (p.Val509=) single nucleotide variant Fanconi anemia [RCV001395277] Chr14:45159226 [GRCh38]
Chr14:45628429 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.912T>C (p.Tyr304=) single nucleotide variant Fanconi anemia [RCV001486716]|Inborn genetic diseases [RCV004980546] Chr14:45148989 [GRCh38]
Chr14:45618192 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=) single nucleotide variant Fanconi anemia [RCV001467950]|Inborn genetic diseases [RCV004980531]|Spermatogenic failure 28 [RCV002501620]|not provided [RCV002476778] Chr14:45199921 [GRCh38]
Chr14:45669124 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3609T>G (p.Ser1203=) single nucleotide variant Fanconi anemia [RCV001456910] Chr14:45176363 [GRCh38]
Chr14:45645566 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5859A>G (p.Gln1953=) single nucleotide variant Fanconi anemia [RCV001402083] Chr14:45198786 [GRCh38]
Chr14:45667989 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1752G>A (p.Arg584=) single nucleotide variant Fanconi anemia [RCV001453692]|Inborn genetic diseases [RCV004980509]|Spermatogenic failure 28 [RCV002476773]|not specified [RCV001820143] Chr14:45164529 [GRCh38]
Chr14:45633732 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3882T>C (p.Val1294=) single nucleotide variant Fanconi anemia [RCV001501726]|Spermatogenic failure 28 [RCV002476803] Chr14:45176636 [GRCh38]
Chr14:45645839 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4548A>G (p.Ala1516=) single nucleotide variant Fanconi anemia [RCV001458125] Chr14:45185249 [GRCh38]
Chr14:45654452 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2937T>C (p.Cys979=) single nucleotide variant Fanconi anemia [RCV001427891]|Inborn genetic diseases [RCV004980470] Chr14:45175691 [GRCh38]
Chr14:45644894 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.246G>A (p.Leu82=) single nucleotide variant Fanconi anemia [RCV001441124] Chr14:45136277 [GRCh38]
Chr14:45605480 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3759T>C (p.Asn1253=) single nucleotide variant Fanconi anemia [RCV001399249]|Inborn genetic diseases [RCV004980427] Chr14:45176513 [GRCh38]
Chr14:45645716 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1770T>C (p.Ser590=) single nucleotide variant Fanconi anemia [RCV001464555] Chr14:45164547 [GRCh38]
Chr14:45633750 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4188A>G (p.Pro1396=) single nucleotide variant Fanconi anemia [RCV001505953] Chr14:45176942 [GRCh38]
Chr14:45646145 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4113A>G (p.Gln1371=) single nucleotide variant Fanconi anemia [RCV001430533] Chr14:45176867 [GRCh38]
Chr14:45646070 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5205G>A (p.Ser1735=) single nucleotide variant Fanconi anemia [RCV001454119]|Inborn genetic diseases [RCV004980511]|Spermatogenic failure 28 [RCV002501592]|not provided [RCV003478840] Chr14:45189227 [GRCh38]
Chr14:45658430 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.876G>A (p.Pro292=) single nucleotide variant Fanconi anemia [RCV001490898]|Inborn genetic diseases [RCV004980554]|Spermatogenic failure 28 [RCV002506568] Chr14:45148953 [GRCh38]
Chr14:45618156 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.120G>T (p.Ala40=) single nucleotide variant Fanconi anemia [RCV001492459] Chr14:45136151 [GRCh38]
Chr14:45605354 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5094C>T (p.Asn1698=) single nucleotide variant Fanconi anemia [RCV001479640] Chr14:45189116 [GRCh38]
Chr14:45658319 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2373C>T (p.Thr791=) single nucleotide variant Fanconi anemia [RCV001459084]|not provided [RCV003478844] Chr14:45175127 [GRCh38]
Chr14:45644330 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3300T>C (p.Val1100=) single nucleotide variant Fanconi anemia [RCV001478910] Chr14:45176054 [GRCh38]
Chr14:45645257 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4437A>C (p.Ser1479=) single nucleotide variant Fanconi anemia [RCV001488424] Chr14:45183824 [GRCh38]
Chr14:45653027 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3003C>T (p.Leu1001=) single nucleotide variant Fanconi anemia [RCV001482723] Chr14:45175757 [GRCh38]
Chr14:45644960 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.705T>C (p.Tyr235=) single nucleotide variant Fanconi anemia [RCV001476865] Chr14:45140655 [GRCh38]
Chr14:45609858 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.114C>T (p.Ser38=) single nucleotide variant Fanconi anemia [RCV001425963] Chr14:45136145 [GRCh38]
Chr14:45605348 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4509C>T (p.His1503=) single nucleotide variant Fanconi anemia [RCV001405740] Chr14:45183896 [GRCh38]
Chr14:45653099 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4245C>T (p.Asn1415=) single nucleotide variant Fanconi anemia [RCV001466661]|Inborn genetic diseases [RCV004980529] Chr14:45181452 [GRCh38]
Chr14:45650655 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3960G>A (p.Leu1320=) single nucleotide variant Fanconi anemia [RCV001462974] Chr14:45176714 [GRCh38]
Chr14:45645917 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4542T>C (p.Asp1514=) single nucleotide variant Fanconi anemia [RCV001504500] Chr14:45185243 [GRCh38]
Chr14:45654446 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2073T>G (p.Leu691=) single nucleotide variant Fanconi anemia [RCV001472316] Chr14:45170659 [GRCh38]
Chr14:45639862 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4317+7C>G single nucleotide variant Fanconi anemia [RCV001489615] Chr14:45181531 [GRCh38]
Chr14:45650734 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4401del (p.Ser1468fs) deletion Fanconi anemia [RCV001383880] Chr14:45183788 [GRCh38]
Chr14:45652991 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2589A>G (p.Lys863=) single nucleotide variant Fanconi anemia [RCV001398378]|Inborn genetic diseases [RCV004980425]|not provided [RCV003478814] Chr14:45175343 [GRCh38]
Chr14:45644546 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3441G>A (p.Val1147=) single nucleotide variant Fanconi anemia [RCV001483663]|Inborn genetic diseases [RCV004980543]|not provided [RCV004704609] Chr14:45176195 [GRCh38]
Chr14:45645398 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5565C>T (p.Tyr1855=) single nucleotide variant Fanconi anemia [RCV001460916] Chr14:45196396 [GRCh38]
Chr14:45665599 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6075T>C (p.Tyr2025=) single nucleotide variant Fanconi anemia [RCV001429521] Chr14:45199936 [GRCh38]
Chr14:45669139 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.343C>T (p.Leu115=) single nucleotide variant Fanconi anemia [RCV001488351] Chr14:45136374 [GRCh38]
Chr14:45605577 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4524T>C (p.Ala1508=) single nucleotide variant Fanconi anemia [RCV001498827] Chr14:45185225 [GRCh38]
Chr14:45654428 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2856A>G (p.Glu952=) single nucleotide variant Fanconi anemia [RCV001400574]|Inborn genetic diseases [RCV004980430] Chr14:45175610 [GRCh38]
Chr14:45644813 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.666C>T (p.Asn222=) single nucleotide variant Fanconi anemia [RCV001419875] Chr14:45137226 [GRCh38]
Chr14:45606429 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3363T>C (p.Ser1121=) single nucleotide variant Fanconi anemia [RCV001439314] Chr14:45176117 [GRCh38]
Chr14:45645320 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1362_1363insCAAAGTTAAA (p.Glu455delinsGlnSerTer) insertion Fanconi anemia [RCV001388044] Chr14:45155423..45155424 [GRCh38]
Chr14:45624626..45624627 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1959T>C (p.Ser653=) single nucleotide variant Fanconi anemia [RCV001443257] Chr14:45167120 [GRCh38]
Chr14:45636323 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.414C>G (p.Val138=) single nucleotide variant Fanconi anemia [RCV001435588] Chr14:45136445 [GRCh38]
Chr14:45605648 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4456del (p.Val1486fs) deletion Fanconi anemia [RCV001388064] Chr14:45183842 [GRCh38]
Chr14:45653045 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3112C>T (p.Leu1038=) single nucleotide variant Fanconi anemia [RCV001446059]|Inborn genetic diseases [RCV004980495]|not provided [RCV002476762] Chr14:45175866 [GRCh38]
Chr14:45645069 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5446A>T (p.Lys1816Ter) single nucleotide variant Fanconi anemia [RCV001387500]|not provided [RCV002272467] Chr14:45196277 [GRCh38]
Chr14:45665480 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.3673A>C (p.Arg1225=) single nucleotide variant Fanconi anemia [RCV001402398] Chr14:45176427 [GRCh38]
Chr14:45645630 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1184-281del deletion not provided [RCV001540027] Chr14:45154399 [GRCh38]
Chr14:45623602 [GRCh37]
Chr14:14q21.2		 benign
NC_000014.8:g.(?_45636143)_(45665760_?)del deletion Fanconi anemia [RCV001381175] Chr14:45636143..45665760 [GRCh37]
Chr14:14q21.2		 pathogenic
NC_000014.8:g.(?_45642248)_(45669211_?)del deletion Fanconi anemia [RCV001381176] Chr14:45642248..45669211 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1879C>A (p.Arg627=) single nucleotide variant Fanconi anemia [RCV001399784] Chr14:45167040 [GRCh38]
Chr14:45636243 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2115G>A (p.Leu705=) single nucleotide variant Fanconi anemia [RCV001446545] Chr14:45170701 [GRCh38]
Chr14:45639904 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter) single nucleotide variant Fanconi anemia [RCV001381289] Chr14:45176277 [GRCh38]
Chr14:45645480 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1503A>C (p.Pro501=) single nucleotide variant Fanconi anemia [RCV001407332] Chr14:45159202 [GRCh38]
Chr14:45628405 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5466A>G (p.Val1822=) single nucleotide variant Fanconi anemia [RCV001409845] Chr14:45196297 [GRCh38]
Chr14:45665500 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4809G>A (p.Glu1603=) single nucleotide variant Fanconi anemia [RCV001430603] Chr14:45188831 [GRCh38]
Chr14:45658034 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3081G>A (p.Glu1027=) single nucleotide variant Fanconi anemia [RCV001409947] Chr14:45175835 [GRCh38]
Chr14:45645038 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1581+7_1581+9del microsatellite Fanconi anemia [RCV001410013] Chr14:45159284..45159286 [GRCh38]
Chr14:45628487..45628489 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3888C>A (p.Ile1296=) single nucleotide variant Fanconi anemia [RCV001425146]|Inborn genetic diseases [RCV004980465]|Spermatogenic failure 28 [RCV002488238]|not provided [RCV003478826] Chr14:45176642 [GRCh38]
Chr14:45645845 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter) single nucleotide variant Fanconi anemia [RCV001380939]|not provided [RCV001564781] Chr14:45181477 [GRCh38]
Chr14:45650680 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.4223-4A>G single nucleotide variant Fanconi anemia [RCV001428615]|not provided [RCV001569964] Chr14:45181426 [GRCh38]
Chr14:45650629 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4515+10T>C single nucleotide variant Fanconi anemia [RCV001440064] Chr14:45183912 [GRCh38]
Chr14:45653115 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter) single nucleotide variant Fanconi anemia [RCV001385342] Chr14:45159191 [GRCh38]
Chr14:45628394 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.909_910del (p.Ile305fs) deletion Fanconi anemia [RCV001385361] Chr14:45148986..45148987 [GRCh38]
Chr14:45618189..45618190 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3276A>G (p.Glu1092=) single nucleotide variant Fanconi anemia [RCV001408152]|not provided [RCV003478820] Chr14:45176030 [GRCh38]
Chr14:45645233 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5315_5316del (p.Asp1771_Cys1772insTer) deletion FANCM-related disorder [RCV004528499]|Fanconi anemia [RCV001388818]|not provided [RCV004720895] Chr14:45189336..45189337 [GRCh38]
Chr14:45658539..45658540 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.366C>G (p.Ala122=) single nucleotide variant Fanconi anemia [RCV001410824]|Inborn genetic diseases [RCV004980448]|Spermatogenic failure 28 [RCV002504685]|not specified [RCV001820108] Chr14:45136397 [GRCh38]
Chr14:45605600 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.195G>A (p.Glu65=) single nucleotide variant Fanconi anemia [RCV001400155]|not provided [RCV003478815] Chr14:45136226 [GRCh38]
Chr14:45605429 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2212C>T (p.Leu738=) single nucleotide variant FANCM-related disorder [RCV004540313]|Fanconi anemia [RCV001431508]|Inborn genetic diseases [RCV004980474] Chr14:45173106 [GRCh38]
Chr14:45642309 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5811C>T (p.Cys1937=) single nucleotide variant Fanconi anemia [RCV001447727] Chr14:45198738 [GRCh38]
Chr14:45667941 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.730C>T (p.Leu244=) single nucleotide variant Fanconi anemia [RCV001423828] Chr14:45140680 [GRCh38]
Chr14:45609883 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4498A>C (p.Arg1500=) single nucleotide variant Fanconi anemia [RCV001434891]|Inborn genetic diseases [RCV004980479] Chr14:45183885 [GRCh38]
Chr14:45653088 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5271G>A (p.Gln1757=) single nucleotide variant Fanconi anemia [RCV001424201] Chr14:45189293 [GRCh38]
Chr14:45658496 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter) single nucleotide variant Fanconi anemia [RCV001385667]|not provided [RCV004728702] Chr14:45176907 [GRCh38]
Chr14:45646110 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.2409T>C (p.Asn803=) single nucleotide variant Fanconi anemia [RCV001427291] Chr14:45175163 [GRCh38]
Chr14:45644366 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2025G>A (p.Lys675=) single nucleotide variant Fanconi anemia [RCV001404142] Chr14:45170611 [GRCh38]
Chr14:45639814 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4624T>C (p.Leu1542=) single nucleotide variant Fanconi anemia [RCV001404090]|Inborn genetic diseases [RCV004980438] Chr14:45185325 [GRCh38]
Chr14:45654528 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2379A>G (p.Thr793=) single nucleotide variant Fanconi anemia [RCV001443080] Chr14:45175133 [GRCh38]
Chr14:45644336 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4005dup (p.Val1336fs) duplication Fanconi anemia [RCV001382035]|not provided [RCV003222315] Chr14:45176751..45176752 [GRCh38]
Chr14:45645954..45645955 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.538del (p.Ile180fs) deletion Fanconi anemia [RCV001384435] Chr14:45137096 [GRCh38]
Chr14:45606299 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4674T>C (p.Asp1558=) single nucleotide variant Fanconi anemia [RCV001409048] Chr14:45187782 [GRCh38]
Chr14:45656985 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5193C>T (p.Ser1731=) single nucleotide variant Fanconi anemia [RCV001472375] Chr14:45189215 [GRCh38]
Chr14:45658418 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.919-293A>G single nucleotide variant not provided [RCV001681427] Chr14:45151104 [GRCh38]
Chr14:45620307 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1563C>A (p.Thr521=) single nucleotide variant Fanconi anemia [RCV001490499] Chr14:45159262 [GRCh38]
Chr14:45628465 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1582-144C>G single nucleotide variant not provided [RCV001650434] Chr14:45164215 [GRCh38]
Chr14:45633418 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1788+10G>C single nucleotide variant Fanconi anemia [RCV001464725] Chr14:45164575 [GRCh38]
Chr14:45633778 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.840T>C (p.Tyr280=) single nucleotide variant FANCM-related disorder [RCV004540438]|Fanconi anemia [RCV001490507]|Hereditary cancer-predisposing syndrome [RCV002256800]|Inborn genetic diseases [RCV004980552]|not provided [RCV003478855] Chr14:45148917 [GRCh38]
Chr14:45618120 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4780-4G>C single nucleotide variant Fanconi anemia [RCV001502233]|Spermatogenic failure 28 [RCV002501726] Chr14:45188798 [GRCh38]
Chr14:45658001 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4223-234A>T single nucleotide variant not provided [RCV001666729] Chr14:45181196 [GRCh38]
Chr14:45650399 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.5745A>G (p.Thr1915=) single nucleotide variant Fanconi anemia [RCV001479460]|not provided [RCV004998921] Chr14:45198672 [GRCh38]
Chr14:45667875 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.9A>G (p.Gly3=) single nucleotide variant Fanconi anemia [RCV001451455] Chr14:45136040 [GRCh38]
Chr14:45605243 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4223-100C>T single nucleotide variant not provided [RCV001695377] Chr14:45181330 [GRCh38]
Chr14:45650533 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1310-195A>C single nucleotide variant not provided [RCV001680026] Chr14:45155178 [GRCh38]
Chr14:45624381 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4516-323T>C single nucleotide variant not provided [RCV001671793] Chr14:45184894 [GRCh38]
Chr14:45654097 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1183+205T>C single nucleotide variant not provided [RCV001674565] Chr14:45154257 [GRCh38]
Chr14:45623460 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.5769T>C (p.Thr1923=) single nucleotide variant Fanconi anemia [RCV001483714] Chr14:45198696 [GRCh38]
Chr14:45667899 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1789-154dup duplication not provided [RCV001651869] Chr14:45166777..45166778 [GRCh38]
Chr14:45635980..45635981 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.2460C>T (p.Asn820=) single nucleotide variant Fanconi anemia [RCV001497081] Chr14:45175214 [GRCh38]
Chr14:45644417 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.876G>T (p.Pro292=) single nucleotide variant Fanconi anemia [RCV001516814]|Hereditary cancer-predisposing syndrome [RCV002255679]|Inborn genetic diseases [RCV004980578]|not provided [RCV003389881] Chr14:45148953 [GRCh38]
Chr14:45618156 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.5523T>C (p.His1841=) single nucleotide variant Fanconi anemia [RCV001455701] Chr14:45196354 [GRCh38]
Chr14:45665557 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4387-39A>T single nucleotide variant not provided [RCV001673771] Chr14:45183735 [GRCh38]
Chr14:45652938 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.3570C>A (p.Leu1190=) single nucleotide variant Fanconi anemia [RCV001459920] Chr14:45176324 [GRCh38]
Chr14:45645527 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.81C>T (p.Ser27=) single nucleotide variant Fanconi anemia [RCV001453285]|Inborn genetic diseases [RCV004980507]|Spermatogenic failure 28 [RCV002506529] Chr14:45136112 [GRCh38]
Chr14:45605315 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2958A>T (p.Val986=) single nucleotide variant Fanconi anemia [RCV001463436] Chr14:45175712 [GRCh38]
Chr14:45644915 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1397-58T>G single nucleotide variant not provided [RCV001670061] Chr14:45159038 [GRCh38]
Chr14:45628241 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1371A>T (p.Val457=) single nucleotide variant Fanconi anemia [RCV001464105]|Inborn genetic diseases [RCV004980525] Chr14:45155434 [GRCh38]
Chr14:45624637 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4833G>A (p.Glu1611=) single nucleotide variant Fanconi anemia [RCV001460757]|Inborn genetic diseases [RCV004980522]|not provided [RCV003478846] Chr14:45188855 [GRCh38]
Chr14:45658058 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.336T>A (p.Pro112=) single nucleotide variant Fanconi anemia [RCV001456636] Chr14:45136367 [GRCh38]
Chr14:45605570 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5229C>T (p.Ser1743=) single nucleotide variant Fanconi anemia [RCV001501714]|Inborn genetic diseases [RCV004980564] Chr14:45189251 [GRCh38]
Chr14:45658454 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2199_2202del (p.Ser734fs) microsatellite Fanconi anemia [RCV001387921] Chr14:45173085..45173088 [GRCh38]
Chr14:45642288..45642291 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3321A>G (p.Ala1107=) single nucleotide variant FANCM-related disorder [RCV004540462]|Fanconi anemia [RCV001502870] Chr14:45176075 [GRCh38]
Chr14:45645278 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.882T>G (p.Gly294=) single nucleotide variant Fanconi anemia [RCV001473009] Chr14:45148959 [GRCh38]
Chr14:45618162 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1077A>G (p.Gly359=) single nucleotide variant Fanconi anemia [RCV001431265] Chr14:45153946 [GRCh38]
Chr14:45623149 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2715A>G (p.Glu905=) single nucleotide variant Fanconi anemia [RCV001473221]|Inborn genetic diseases [RCV004980535] Chr14:45175469 [GRCh38]
Chr14:45644672 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4387-8T>C single nucleotide variant Fanconi anemia [RCV001450451] Chr14:45183766 [GRCh38]
Chr14:45652969 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.682-6del deletion Fanconi anemia [RCV001425132] Chr14:45140626 [GRCh38]
Chr14:45609829 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4515+11_4515+14del deletion Fanconi anemia [RCV001425133] Chr14:45183909..45183912 [GRCh38]
Chr14:45653112..45653115 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5028G>A (p.Glu1676=) single nucleotide variant Fanconi anemia [RCV001403279] Chr14:45189050 [GRCh38]
Chr14:45658253 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4758A>G (p.Lys1586=) single nucleotide variant Fanconi anemia [RCV001403301]|Inborn genetic diseases [RCV004980436] Chr14:45187866 [GRCh38]
Chr14:45657069 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5250T>G (p.Pro1750=) single nucleotide variant Fanconi anemia [RCV001479928]|Inborn genetic diseases [RCV004980539] Chr14:45189272 [GRCh38]
Chr14:45658475 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5919C>A (p.Leu1973=) single nucleotide variant Fanconi anemia [RCV001503099]|Inborn genetic diseases [RCV004980566] Chr14:45198846 [GRCh38]
Chr14:45668049 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=) single nucleotide variant FANCM-related disorder [RCV004533765]|Fanconi anemia [RCV001451101]|Inborn genetic diseases [RCV004980504]|Spermatogenic failure 28 [RCV002501586]|not provided [RCV003394059] Chr14:45176267 [GRCh38]
Chr14:45645470 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4578T>G (p.Val1526=) single nucleotide variant Fanconi anemia [RCV001464828]|Inborn genetic diseases [RCV004980526]|Spermatogenic failure 28 [RCV002495676] Chr14:45185279 [GRCh38]
Chr14:45654482 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1845C>T (p.Asn615=) single nucleotide variant Fanconi anemia [RCV001487976] Chr14:45167006 [GRCh38]
Chr14:45636209 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3921T>C (p.Tyr1307=) single nucleotide variant Fanconi anemia [RCV001451171] Chr14:45176675 [GRCh38]
Chr14:45645878 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1668T>C (p.Asp556=) single nucleotide variant Fanconi anemia [RCV001496169]|Inborn genetic diseases [RCV004980560]|Spermatogenic failure 28 [RCV002501706]|not provided [RCV003478859] Chr14:45164445 [GRCh38]
Chr14:45633648 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3828G>A (p.Ser1276=) single nucleotide variant Fanconi anemia [RCV001481745] Chr14:45176582 [GRCh38]
Chr14:45645785 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4005A>G (p.Lys1335=) single nucleotide variant FANCM-related disorder [RCV004540452]|Fanconi anemia [RCV001497932]|Inborn genetic diseases [RCV004980562]|not provided [RCV004998931]|not specified [RCV001820208] Chr14:45176759 [GRCh38]
Chr14:45645962 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2046A>G (p.Glu682=) single nucleotide variant Fanconi anemia [RCV001453283]|not provided [RCV002282552] Chr14:45170632 [GRCh38]
Chr14:45639835 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.5772C>A (p.Thr1924=) single nucleotide variant Fanconi anemia [RCV001415647] Chr14:45198699 [GRCh38]
Chr14:45667902 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2898G>A (p.Glu966=) single nucleotide variant Fanconi anemia [RCV001459479]|Inborn genetic diseases [RCV004980519] Chr14:45175652 [GRCh38]
Chr14:45644855 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3753T>C (p.Asp1251=) single nucleotide variant Fanconi anemia [RCV001393143] Chr14:45176507 [GRCh38]
Chr14:45645710 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5201del (p.Thr1734fs) deletion Fanconi anemia [RCV001380036]|not provided [RCV004590364] Chr14:45189223 [GRCh38]
Chr14:45658426 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.2859A>G (p.Lys953=) single nucleotide variant FANCM-related disorder [RCV004540304]|Fanconi anemia [RCV001427868]|not provided [RCV003478828] Chr14:45175613 [GRCh38]
Chr14:45644816 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5509C>T (p.Leu1837=) single nucleotide variant Fanconi anemia [RCV001426282] Chr14:45196340 [GRCh38]
Chr14:45665543 [GRCh37]
Chr14:14q21.2		 likely benign
NC_000014.8:g.(?_45623113)_(45669211_?)del deletion Fanconi anemia [RCV001378731] Chr14:45623113..45669211 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.516dup (p.Gln173fs) duplication Fanconi anemia [RCV001387276] Chr14:45137075..45137076 [GRCh38]
Chr14:45606278..45606279 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4716A>G (p.Pro1572=) single nucleotide variant Fanconi anemia [RCV001434921]|Hereditary cancer-predisposing syndrome [RCV002256777] Chr14:45187824 [GRCh38]
Chr14:45657027 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5823C>T (p.Thr1941=) single nucleotide variant Fanconi anemia [RCV001426451] Chr14:45198750 [GRCh38]
Chr14:45667953 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.855del (p.Val286fs) deletion Fanconi anemia [RCV001387570] Chr14:45148929 [GRCh38]
Chr14:45618132 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5046T>C (p.Asp1682=) single nucleotide variant Fanconi anemia [RCV001427832] Chr14:45189068 [GRCh38]
Chr14:45658271 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3190del (p.Ser1064fs) deletion Fanconi anemia [RCV001384271] Chr14:45175939 [GRCh38]
Chr14:45645142 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1974A>C (p.Arg658=) single nucleotide variant Fanconi anemia [RCV001426606] Chr14:45167135 [GRCh38]
Chr14:45636338 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1143A>G (p.Ser381=) single nucleotide variant Fanconi anemia [RCV001437585]|Inborn genetic diseases [RCV004980482]|not provided [RCV003478830] Chr14:45154012 [GRCh38]
Chr14:45623215 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2997G>A (p.Pro999=) single nucleotide variant Fanconi anemia [RCV001488847]|Inborn genetic diseases [RCV004980549] Chr14:45175751 [GRCh38]
Chr14:45644954 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2317-5T>C single nucleotide variant Fanconi anemia [RCV001494495] Chr14:45175066 [GRCh38]
Chr14:45644269 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4285del (p.Arg1429fs) deletion Fanconi anemia [RCV001380593] Chr14:45181489 [GRCh38]
Chr14:45650692 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.126G>A (p.Leu42=) single nucleotide variant Fanconi anemia [RCV001459784] Chr14:45136157 [GRCh38]
Chr14:45605360 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1134A>G (p.Gly378=) single nucleotide variant Fanconi anemia [RCV001479551] Chr14:45154003 [GRCh38]
Chr14:45623206 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2003-7C>T single nucleotide variant Fanconi anemia [RCV001399184] Chr14:45170582 [GRCh38]
Chr14:45639785 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=) single nucleotide variant Fanconi anemia [RCV001435393]|Spermatogenic failure 28 [RCV002501538] Chr14:45176489 [GRCh38]
Chr14:45645692 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter) single nucleotide variant Fanconi anemia [RCV001384745] Chr14:45173149 [GRCh38]
Chr14:45642352 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3558T>C (p.Asn1186=) single nucleotide variant Fanconi anemia [RCV001502756] Chr14:45176312 [GRCh38]
Chr14:45645515 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5801T>C (p.Phe1934Ser) single nucleotide variant not specified [RCV002247824] Chr14:45198728 [GRCh38]
Chr14:45667931 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.426A>C (p.Pro142=) single nucleotide variant Fanconi anemia [RCV003108668] Chr14:45136457 [GRCh38]
Chr14:45605660 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2161-9A>T single nucleotide variant Fanconi anemia [RCV003094096]|not provided [RCV002251646] Chr14:45173046 [GRCh38]
Chr14:45642249 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2908G>T (p.Val970Phe) single nucleotide variant Fanconi anemia [RCV003094193]|Hereditary cancer-predisposing syndrome [RCV002256971] Chr14:45175662 [GRCh38]
Chr14:45644865 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5598G>A (p.Arg1866=) single nucleotide variant Fanconi anemia [RCV003094194]|Hereditary cancer-predisposing syndrome [RCV002256975] Chr14:45196429 [GRCh38]
Chr14:45665632 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1571A>G (p.Glu524Gly) single nucleotide variant not specified [RCV002247820] Chr14:45159270 [GRCh38]
Chr14:45628473 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2420A>G (p.Asp807Gly) single nucleotide variant Fanconi anemia [RCV002613380] Chr14:45175174 [GRCh38]
Chr14:45644377 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3911A>G (p.Asn1304Ser) single nucleotide variant not provided [RCV001761424] Chr14:45176665 [GRCh38]
Chr14:45645868 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1548C>G (p.Ser516Arg) single nucleotide variant not provided [RCV001761448] Chr14:45159247 [GRCh38]
Chr14:45628450 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.235G>C (p.Ala79Pro) single nucleotide variant Fanconi anemia [RCV001868540]|not provided [RCV001761212] Chr14:45136266 [GRCh38]
Chr14:45605469 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5910T>G (p.Ser1970Arg) single nucleotide variant Fanconi anemia [RCV003635966]|Inborn genetic diseases [RCV004980661]|not provided [RCV001761420] Chr14:45198837 [GRCh38]
Chr14:45668040 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4586A>G (p.Asp1529Gly) single nucleotide variant not provided [RCV003238546] Chr14:45185287 [GRCh38]
Chr14:45654490 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5093A>T (p.Asn1698Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255793] Chr14:45189115 [GRCh38]
Chr14:45658318 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3143A>G (p.Asn1048Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256972] Chr14:45175897 [GRCh38]
Chr14:45645100 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1868A>G (p.Gln623Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258405] Chr14:45167029 [GRCh38]
Chr14:45636232 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5722A>C (p.Thr1908Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258411] Chr14:45198649 [GRCh38]
Chr14:45667852 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2493A>C (p.Glu831Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258407] Chr14:45175247 [GRCh38]
Chr14:45644450 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2530C>G (p.His844Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258408] Chr14:45175284 [GRCh38]
Chr14:45644487 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5185A>C (p.Lys1729Gln) single nucleotide variant not provided [RCV001769258] Chr14:45189207 [GRCh38]
Chr14:45658410 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg) single nucleotide variant Fanconi anemia [RCV002032753]|Spermatogenic failure 28 [RCV002506756]|not provided [RCV001754269] Chr14:45189070 [GRCh38]
Chr14:45658273 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.924G>C (p.Leu308Phe) single nucleotide variant not provided [RCV001767116] Chr14:45151402 [GRCh38]
Chr14:45620605 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.857T>C (p.Val286Ala) single nucleotide variant not provided [RCV001754282]|not specified [RCV002246471] Chr14:45148934 [GRCh38]
Chr14:45618137 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5809T>G (p.Cys1937Gly) single nucleotide variant not provided [RCV003237668] Chr14:45198736 [GRCh38]
Chr14:45667939 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4781T>A (p.Ile1594Asn) single nucleotide variant not provided [RCV003237669] Chr14:45188803 [GRCh38]
Chr14:45658006 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4516-9_4516-7del deletion not provided [RCV003237671] Chr14:45185207..45185209 [GRCh38]
Chr14:45654410..45654412 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2617G>A (p.Gly873Ser) single nucleotide variant Fanconi anemia [RCV001885117]|not provided [RCV003225191] Chr14:45175371 [GRCh38]
Chr14:45644574 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu) single nucleotide variant Fanconi anemia [RCV001861123]|Spermatogenic failure 28 [RCV005006040]|not provided [RCV003237674] Chr14:45175329 [GRCh38]
Chr14:45644532 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1384A>C (p.Lys462Gln) single nucleotide variant Inborn genetic diseases [RCV004616771]|not provided [RCV001758718] Chr14:45155447 [GRCh38]
Chr14:45624650 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4762A>G (p.Ile1588Val) single nucleotide variant Fanconi anemia [RCV001868495]|not provided [RCV001761015] Chr14:45187870 [GRCh38]
Chr14:45657073 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2233C>A (p.Pro745Thr) single nucleotide variant not provided [RCV001774752] Chr14:45173127 [GRCh38]
Chr14:45642330 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1961G>A (p.Arg654Gln) single nucleotide variant not provided [RCV001761464] Chr14:45167122 [GRCh38]
Chr14:45636325 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1884G>A (p.Met628Ile) single nucleotide variant not provided [RCV001763130] Chr14:45167045 [GRCh38]
Chr14:45636248 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4281T>G (p.Val1427=) single nucleotide variant not provided [RCV001771281] Chr14:45181488 [GRCh38]
Chr14:45650691 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5538A>C (p.Glu1846Asp) single nucleotide variant Spermatogenic failure 28 [RCV001788969] Chr14:45196369 [GRCh38]
Chr14:45665572 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro) single nucleotide variant Fanconi anemia [RCV003635971]|Spermatogenic failure 28 [RCV002477990]|not provided [RCV001773206] Chr14:45187795 [GRCh38]
Chr14:45656998 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4718T>A (p.Met1573Lys) single nucleotide variant not provided [RCV001771394] Chr14:45187826 [GRCh38]
Chr14:45657029 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.100_117del (p.Ser34_Lys39del) deletion FANCM-related disorder [RCV004738374]|not provided [RCV001771411] Chr14:45136129..45136146 [GRCh38]
Chr14:45605332..45605349 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2501A>C (p.Glu834Ala) single nucleotide variant Fanconi anemia [RCV003635969]|not provided [RCV001771469] Chr14:45175255 [GRCh38]
Chr14:45644458 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4312C>T (p.Pro1438Ser) single nucleotide variant not provided [RCV001763701] Chr14:45181519 [GRCh38]
Chr14:45650722 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2847C>G (p.Phe949Leu) single nucleotide variant not specified [RCV001801141] Chr14:45175601 [GRCh38]
Chr14:45644804 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.68C>A (p.Pro23Gln) single nucleotide variant Fanconi anemia [RCV001868524]|not provided [RCV001752665] Chr14:45136099 [GRCh38]
Chr14:45605302 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2710G>T (p.Asp904Tyr) single nucleotide variant not provided [RCV001752753] Chr14:45175464 [GRCh38]
Chr14:45644667 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.552G>T (p.Lys184Asn) single nucleotide variant not provided [RCV001763173] Chr14:45137112 [GRCh38]
Chr14:45606315 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3676G>A (p.Asp1226Asn) single nucleotide variant not provided [RCV003237672] Chr14:45176430 [GRCh38]
Chr14:45645633 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1784_1785dup (p.Arg596fs) duplication not provided [RCV003237675] Chr14:45164560..45164561 [GRCh38]
Chr14:45633763..45633764 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1397-14A>T single nucleotide variant Fanconi anemia [RCV002540743]|Spermatogenic failure 28 [RCV002506810]|not provided [RCV003237677] Chr14:45159082 [GRCh38]
Chr14:45628285 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1238A>G (p.Tyr413Cys) single nucleotide variant not provided [RCV003237678] Chr14:45154751 [GRCh38]
Chr14:45623954 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1072G>A (p.Glu358Lys) single nucleotide variant Fanconi anemia [RCV001861124]|not provided [RCV003237679] Chr14:45153941 [GRCh38]
Chr14:45623144 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.103C>T (p.Pro35Ser) single nucleotide variant not provided [RCV003237680] Chr14:45136134 [GRCh38]
Chr14:45605337 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1006C>A (p.Leu336Met) single nucleotide variant not provided [RCV003237681] Chr14:45151484 [GRCh38]
Chr14:45620687 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3907C>A (p.Gln1303Lys) single nucleotide variant Fanconi anemia [RCV001885047]|Inborn genetic diseases [RCV004980671]|not provided [RCV001763942] Chr14:45176661 [GRCh38]
Chr14:45645864 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5129C>A (p.Ser1710Tyr) single nucleotide variant not provided [RCV001763997] Chr14:45189151 [GRCh38]
Chr14:45658354 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3852T>G (p.Asp1284Glu) single nucleotide variant Inborn genetic diseases [RCV004040273]|Spermatogenic failure 28 [RCV002503223]|not provided [RCV001764012] Chr14:45176606 [GRCh38]
Chr14:45645809 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5146T>C (p.Ser1716Pro) single nucleotide variant not provided [RCV001764048] Chr14:45189168 [GRCh38]
Chr14:45658371 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2489T>C (p.Ile830Thr) single nucleotide variant not provided [RCV001772789] Chr14:45175243 [GRCh38]
Chr14:45644446 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2851G>C (p.Asp951His) single nucleotide variant not provided [RCV001765952] Chr14:45175605 [GRCh38]
Chr14:45644808 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.204G>A (p.Leu68=) single nucleotide variant Inborn genetic diseases [RCV004980675]|not provided [RCV001765958] Chr14:45136235 [GRCh38]
Chr14:45605438 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3568C>T (p.Leu1190Phe) single nucleotide variant Fanconi anemia [RCV001868628]|not provided [RCV001772942] Chr14:45176322 [GRCh38]
Chr14:45645525 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1709T>C (p.Leu570Pro) single nucleotide variant Fanconi anemia [RCV001885059]|not provided [RCV001772951] Chr14:45164486 [GRCh38]
Chr14:45633689 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2800A>T (p.Thr934Ser) single nucleotide variant not provided [RCV001767507] Chr14:45175554 [GRCh38]
Chr14:45644757 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3023A>C (p.Glu1008Ala) single nucleotide variant Fanconi anemia [RCV003772050]|not provided [RCV001773208] Chr14:45175777 [GRCh38]
Chr14:45644980 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3049C>T (p.Leu1017Phe) single nucleotide variant not provided [RCV001769049] Chr14:45175803 [GRCh38]
Chr14:45645006 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1459G>A (p.Asp487Asn) single nucleotide variant Inborn genetic diseases [RCV004980668]|not provided [RCV001769159] Chr14:45159158 [GRCh38]
Chr14:45628361 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1787G>A (p.Arg596His) single nucleotide variant Fanconi anemia [RCV003772033]|not provided [RCV001769165] Chr14:45164564 [GRCh38]
Chr14:45633767 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2205A>T (p.Glu735Asp) single nucleotide variant Fanconi anemia [RCV002034515]|Inborn genetic diseases [RCV004980686]|not provided [RCV001776603] Chr14:45173099 [GRCh38]
Chr14:45642302 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr) single nucleotide variant FANCM-related disorder [RCV004536298]|Fanconi anemia [RCV002540511]|Spermatogenic failure 28 [RCV002503224]|not provided [RCV001769398]|not specified [RCV001801010] Chr14:45183820 [GRCh38]
Chr14:45653023 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys) single nucleotide variant Fanconi anemia [RCV003635965]|Spermatogenic failure 28 [RCV002488581]|not provided [RCV001752697] Chr14:45176815 [GRCh38]
Chr14:45646018 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3763C>G (p.Pro1255Ala) single nucleotide variant not provided [RCV001752785] Chr14:45176517 [GRCh38]
Chr14:45645720 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4255G>C (p.Asp1419His) single nucleotide variant not provided [RCV001752786] Chr14:45181462 [GRCh38]
Chr14:45650665 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1703T>C (p.Ile568Thr) single nucleotide variant Fanconi anemia [RCV003772032]|Hereditary cancer-predisposing syndrome [RCV002258307]|not provided [RCV001769139] Chr14:45164480 [GRCh38]
Chr14:45633683 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2672A>C (p.Gln891Pro) single nucleotide variant Fanconi anemia [RCV003635967]|not provided [RCV001769147] Chr14:45175426 [GRCh38]
Chr14:45644629 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2197C>G (p.Leu733Val) single nucleotide variant not provided [RCV001769152] Chr14:45173091 [GRCh38]
Chr14:45642294 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1708C>T (p.Leu570Phe) single nucleotide variant Fanconi anemia [RCV003120676]|not provided [RCV001769169] Chr14:45164485 [GRCh38]
Chr14:45633688 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2485G>T (p.Val829Leu) single nucleotide variant Fanconi anemia [RCV001868648]|not provided [RCV001765953] Chr14:45175239 [GRCh38]
Chr14:45644442 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.694C>G (p.Leu232Val) single nucleotide variant not provided [RCV001771190] Chr14:45140644 [GRCh38]
Chr14:45609847 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.874C>T (p.Pro292Ser) single nucleotide variant not provided [RCV001763646] Chr14:45148951 [GRCh38]
Chr14:45618154 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.104C>G (p.Pro35Arg) single nucleotide variant not provided [RCV001763644] Chr14:45136135 [GRCh38]
Chr14:45605338 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4222+1del deletion not provided [RCV001781093] Chr14:45176976 [GRCh38]
Chr14:45646179 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4490T>C (p.Val1497Ala) single nucleotide variant not provided [RCV001771415] Chr14:45183877 [GRCh38]
Chr14:45653080 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5532A>G (p.Gln1844=) single nucleotide variant FANCM-related disorder [RCV004738375]|Fanconi anemia [RCV003635968]|not provided [RCV001771437] Chr14:45196363 [GRCh38]
Chr14:45665566 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1265G>A (p.Arg422His) single nucleotide variant Fanconi anemia [RCV002540546]|not provided [RCV001771460] Chr14:45154778 [GRCh38]
Chr14:45623981 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4517A>T (p.His1506Leu) single nucleotide variant Fanconi anemia [RCV003523105]|not provided [RCV001761454] Chr14:45185218 [GRCh38]
Chr14:45654421 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5333C>T (p.Pro1778Leu) single nucleotide variant Fanconi anemia [RCV003772022]|not provided [RCV001761493] Chr14:45189355 [GRCh38]
Chr14:45658558 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4317+4A>G single nucleotide variant not provided [RCV001774387] Chr14:45181528 [GRCh38]
Chr14:45650731 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3194G>A (p.Cys1065Tyr) single nucleotide variant not provided [RCV001763672] Chr14:45175948 [GRCh38]
Chr14:45645151 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1328T>G (p.Phe443Cys) single nucleotide variant Fanconi anemia [RCV002539159]|Inborn genetic diseases [RCV004980663]|Spermatogenic failure 28 [RCV005005278]|not provided [RCV001763714] Chr14:45155391 [GRCh38]
Chr14:45624594 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr) single nucleotide variant Fanconi anemia [RCV001885209]|Inborn genetic diseases [RCV003264098]|Spermatogenic failure 28 [RCV001788982]|not provided [RCV002466696] Chr14:45136264 [GRCh38]
Chr14:45605467 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3857G>A (p.Ser1286Asn) single nucleotide variant not provided [RCV001801136] Chr14:45176611 [GRCh38]
Chr14:45645814 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.336dup (p.Thr113fs) duplication not provided [RCV001815760] Chr14:45136366..45136367 [GRCh38]
Chr14:45605569..45605570 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.884A>G (p.Glu295Gly) single nucleotide variant not provided [RCV001797497] Chr14:45148961 [GRCh38]
Chr14:45618164 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser) single nucleotide variant Fanconi anemia [RCV001868499]|Premature ovarian failure 15 [RCV004595629]|Spermatogenic failure 28 [RCV002477964]|not provided [RCV001758475] Chr14:45159227 [GRCh38]
Chr14:45628430 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance|not provided
NM_020937.4(FANCM):c.2641G>A (p.Asp881Asn) single nucleotide variant not provided [RCV001758557] Chr14:45175395 [GRCh38]
Chr14:45644598 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5208G>A (p.Leu1736=) single nucleotide variant Fanconi anemia [RCV002542053]|not specified [RCV001820719] Chr14:45189230 [GRCh38]
Chr14:45658433 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val) single nucleotide variant Fanconi anemia [RCV001885310]|Spermatogenic failure 28 [RCV002489863]|not provided [RCV001822056] Chr14:45176943 [GRCh38]
Chr14:45646146 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.36G>T (p.Trp12Cys) single nucleotide variant Fanconi anemia [RCV001869761]|Spermatogenic failure 28 [RCV005005292]|not specified [RCV001822551] Chr14:45136067 [GRCh38]
Chr14:45605270 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5219A>G (p.Asp1740Gly) single nucleotide variant not specified [RCV001822684] Chr14:45189241 [GRCh38]
Chr14:45658444 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5196A>T (p.Lys1732Asn) single nucleotide variant Inborn genetic diseases [RCV004980735]|not specified [RCV001822773] Chr14:45189218 [GRCh38]
Chr14:45658421 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.174T>G (p.Leu58=) single nucleotide variant not specified [RCV001822659] Chr14:45136205 [GRCh38]
Chr14:45605408 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1178C>A (p.Thr393Asn) single nucleotide variant not provided [RCV004801532] Chr14:45154047 [GRCh38]
Chr14:45623250 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.117G>A (p.Lys39=) single nucleotide variant Fanconi anemia [RCV002542687]|not specified [RCV001822759] Chr14:45136148 [GRCh38]
Chr14:45605351 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4576G>A (p.Val1526Ile) single nucleotide variant Fanconi anemia [RCV001914408] Chr14:45185277 [GRCh38]
Chr14:45654480 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3137A>G (p.Gln1046Arg) single nucleotide variant Fanconi anemia [RCV001950720] Chr14:45175891 [GRCh38]
Chr14:45645094 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4027A>G (p.Lys1343Glu) single nucleotide variant Fanconi anemia [RCV001971238] Chr14:45176781 [GRCh38]
Chr14:45645984 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1305A>G (p.Gln435=) single nucleotide variant Fanconi anemia [RCV001971763] Chr14:45154818 [GRCh38]
Chr14:45624021 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1581+1G>A single nucleotide variant Fanconi anemia [RCV001966317]|not provided [RCV003327548] Chr14:45159281 [GRCh38]
Chr14:45628484 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.2436C>G (p.His812Gln) single nucleotide variant Fanconi anemia [RCV001864519] Chr14:45175190 [GRCh38]
Chr14:45644393 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5088GAA[1] (p.Lys1697del) microsatellite Fanconi anemia [RCV001930121] Chr14:45189108..45189110 [GRCh38]
Chr14:45658311..45658313 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1786_1787insTTAC (p.Arg596fs) insertion Fanconi anemia [RCV001892516] Chr14:45164561..45164562 [GRCh38]
Chr14:45633764..45633765 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2063G>C (p.Trp688Ser) single nucleotide variant Fanconi anemia [RCV001874355] Chr14:45170649 [GRCh38]
Chr14:45639852 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2333A>C (p.Glu778Ala) single nucleotide variant Fanconi anemia [RCV002045453]|not provided [RCV004999603] Chr14:45175087 [GRCh38]
Chr14:45644290 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5717-4T>A single nucleotide variant Fanconi anemia [RCV001864287]|not provided [RCV002265036]|not specified [RCV003151355] Chr14:45198640 [GRCh38]
Chr14:45667843 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3074G>A (p.Cys1025Tyr) single nucleotide variant Fanconi anemia [RCV001983777] Chr14:45175828 [GRCh38]
Chr14:45645031 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2813C>G (p.Ala938Gly) single nucleotide variant Fanconi anemia [RCV002007774] Chr14:45175567 [GRCh38]
Chr14:45644770 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.748A>G (p.Ser250Gly) single nucleotide variant Fanconi anemia [RCV001864377] Chr14:45140698 [GRCh38]
Chr14:45609901 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys) single nucleotide variant Fanconi anemia [RCV002043553]|Spermatogenic failure 28 [RCV002479802]|not provided [RCV002509747] Chr14:45183888 [GRCh38]
Chr14:45653091 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2316+11_2316+13del deletion Fanconi anemia [RCV002039516] Chr14:45173219..45173221 [GRCh38]
Chr14:45642422..45642424 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1317A>C (p.Lys439Asn) single nucleotide variant Fanconi anemia [RCV001929339] Chr14:45155380 [GRCh38]
Chr14:45624583 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1463G>A (p.Ser488Asn) single nucleotide variant Fanconi anemia [RCV001896852] Chr14:45159162 [GRCh38]
Chr14:45628365 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2804G>A (p.Ser935Asn) single nucleotide variant Fanconi anemia [RCV002005279] Chr14:45175558 [GRCh38]
Chr14:45644761 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser) single nucleotide variant Fanconi anemia [RCV002024643]|Inborn genetic diseases [RCV004976183]|Spermatogenic failure 28 [RCV002492390] Chr14:45136221 [GRCh38]
Chr14:45605424 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2208G>C (p.Trp736Cys) single nucleotide variant Fanconi anemia [RCV001863474] Chr14:45173102 [GRCh38]
Chr14:45642305 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.824C>T (p.Pro275Leu) single nucleotide variant Fanconi anemia [RCV002021405] Chr14:45148901 [GRCh38]
Chr14:45618104 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4566T>G (p.Asp1522Glu) single nucleotide variant Fanconi anemia [RCV002021944] Chr14:45185267 [GRCh38]
Chr14:45654470 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3752A>G (p.Asp1251Gly) single nucleotide variant Fanconi anemia [RCV001964917] Chr14:45176506 [GRCh38]
Chr14:45645709 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala) single nucleotide variant Fanconi anemia [RCV001984818]|Spermatogenic failure 28 [RCV002484663] Chr14:45196244 [GRCh38]
Chr14:45665447 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2470G>A (p.Gly824Ser) single nucleotide variant Fanconi anemia [RCV001985017] Chr14:45175224 [GRCh38]
Chr14:45644427 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1163G>T (p.Gly388Val) single nucleotide variant Fanconi anemia [RCV001908876] Chr14:45154032 [GRCh38]
Chr14:45623235 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5744C>A (p.Thr1915Lys) single nucleotide variant Fanconi anemia [RCV001983326] Chr14:45198671 [GRCh38]
Chr14:45667874 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2834G>C (p.Gly945Ala) single nucleotide variant Fanconi anemia [RCV002022971]|Inborn genetic diseases [RCV004976161]|not provided [RCV002511128] Chr14:45175588 [GRCh38]
Chr14:45644791 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1022T>G (p.Phe341Cys) single nucleotide variant Fanconi anemia [RCV001894069]|not provided [RCV002473310] Chr14:45151500 [GRCh38]
Chr14:45620703 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.938G>T (p.Arg313Leu) single nucleotide variant Fanconi anemia [RCV001966268] Chr14:45151416 [GRCh38]
Chr14:45620619 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1439T>A (p.Met480Lys) single nucleotide variant Fanconi anemia [RCV002005553] Chr14:45159138 [GRCh38]
Chr14:45628341 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser) single nucleotide variant Fanconi anemia [RCV001909283]|Spermatogenic failure 28 [RCV002490240]|not provided [RCV004998997] Chr14:45151450 [GRCh38]
Chr14:45620653 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3319G>A (p.Ala1107Thr) single nucleotide variant Fanconi anemia [RCV001911614]|not provided [RCV003225199] Chr14:45176073 [GRCh38]
Chr14:45645276 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1847G>C (p.Arg616Thr) single nucleotide variant Fanconi anemia [RCV001985322]|not provided [RCV003886537] Chr14:45167008 [GRCh38]
Chr14:45636211 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3743A>G (p.His1248Arg) single nucleotide variant Fanconi anemia [RCV002006542] Chr14:45176497 [GRCh38]
Chr14:45645700 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3732_3735dup (p.Leu1246fs) duplication Fanconi anemia [RCV001946984] Chr14:45176484..45176485 [GRCh38]
Chr14:45645687..45645688 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.232T>C (p.Ser78Pro) single nucleotide variant FANCM-related disorder [RCV004529079]|Fanconi anemia [RCV001984384]|Inborn genetic diseases [RCV002625341]|not provided [RCV002511123] Chr14:45136263 [GRCh38]
Chr14:45605466 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3950dup (p.Asn1317fs) duplication Fanconi anemia [RCV001893178] Chr14:45176698..45176699 [GRCh38]
Chr14:45645901..45645902 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2285T>C (p.Met762Thr) single nucleotide variant Fanconi anemia [RCV001983965] Chr14:45173179 [GRCh38]
Chr14:45642382 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3258T>A (p.His1086Gln) single nucleotide variant Fanconi anemia [RCV001968091] Chr14:45176012 [GRCh38]
Chr14:45645215 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3517G>A (p.Val1173Ile) single nucleotide variant Fanconi anemia [RCV001911414] Chr14:45176271 [GRCh38]
Chr14:45645474 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn) single nucleotide variant Fanconi anemia [RCV003635980]|Hepatoblastoma [RCV001843904]|not specified [RCV002246545] Chr14:45185286 [GRCh38]
Chr14:45654489 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3295C>T (p.Arg1099Cys) single nucleotide variant Fanconi anemia [RCV001913608] Chr14:45176049 [GRCh38]
Chr14:45645252 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.815A>T (p.Glu272Val) single nucleotide variant Fanconi anemia [RCV002007767] Chr14:45148892 [GRCh38]
Chr14:45618095 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5200A>G (p.Thr1734Ala) single nucleotide variant Fanconi anemia [RCV002008117] Chr14:45189222 [GRCh38]
Chr14:45658425 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2162C>G (p.Ala721Gly) single nucleotide variant Fanconi anemia [RCV002007099] Chr14:45173056 [GRCh38]
Chr14:45642259 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3313A>G (p.Ser1105Gly) single nucleotide variant Fanconi anemia [RCV001983082] Chr14:45176067 [GRCh38]
Chr14:45645270 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.81del (p.Gly28fs) deletion Fanconi anemia [RCV001947770] Chr14:45136111 [GRCh38]
Chr14:45605314 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2878T>C (p.Phe960Leu) single nucleotide variant Fanconi anemia [RCV002021998] Chr14:45175632 [GRCh38]
Chr14:45644835 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly) single nucleotide variant FANCM-related disorder [RCV004738497]|Fanconi anemia [RCV002042960]|Spermatogenic failure 28 [RCV002492358]|not provided [RCV003128844] Chr14:45196173 [GRCh38]
Chr14:45665376 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1862T>A (p.Phe621Tyr) single nucleotide variant Fanconi anemia [RCV001914310] Chr14:45167023 [GRCh38]
Chr14:45636226 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.298C>G (p.Arg100Gly) single nucleotide variant Fanconi anemia [RCV002043648] Chr14:45136329 [GRCh38]
Chr14:45605532 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2871_2876del (p.Asn958_Leu959del) deletion Fanconi anemia [RCV001964163] Chr14:45175625..45175630 [GRCh38]
Chr14:45644828..45644833 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1600G>A (p.Asp534Asn) single nucleotide variant Fanconi anemia [RCV001983605] Chr14:45164377 [GRCh38]
Chr14:45633580 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3111G>C (p.Leu1037Phe) single nucleotide variant Fanconi anemia [RCV001873011] Chr14:45175865 [GRCh38]
Chr14:45645068 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5732T>A (p.Met1911Lys) single nucleotide variant Fanconi anemia [RCV002004517] Chr14:45198659 [GRCh38]
Chr14:45667862 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1493A>G (p.Gln498Arg) single nucleotide variant Fanconi anemia [RCV001985543]|not provided [RCV004774565] Chr14:45159192 [GRCh38]
Chr14:45628395 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.420G>A (p.Met140Ile) single nucleotide variant Fanconi anemia [RCV002002768]|not provided [RCV002479624] Chr14:45136451 [GRCh38]
Chr14:45605654 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4143T>G (p.Phe1381Leu) single nucleotide variant Fanconi anemia [RCV002043370] Chr14:45176897 [GRCh38]
Chr14:45646100 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5258A>G (p.His1753Arg) single nucleotide variant Fanconi anemia [RCV001987121]|Inborn genetic diseases [RCV002562082] Chr14:45189280 [GRCh38]
Chr14:45658483 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.161ATG[1] (p.Asp55del) microsatellite Fanconi anemia [RCV001873100]|not provided [RCV003146290] Chr14:45136191..45136193 [GRCh38]
Chr14:45605394..45605396 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2336dup (p.Leu779fs) duplication Fanconi anemia [RCV002007438] Chr14:45175088..45175089 [GRCh38]
Chr14:45644291..45644292 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter) single nucleotide variant Fanconi anemia [RCV001949350]|Hereditary cancer-predisposing syndrome [RCV002258344] Chr14:45154726 [GRCh38]
Chr14:45623929 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.4101dup (p.Val1368fs) duplication Fanconi anemia [RCV001965362]|not provided [RCV004822966] Chr14:45176850..45176851 [GRCh38]
Chr14:45646053..45646054 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.632T>C (p.Leu211Ser) single nucleotide variant Fanconi anemia [RCV002005292] Chr14:45137192 [GRCh38]
Chr14:45606395 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2543C>G (p.Thr848Ser) single nucleotide variant Fanconi anemia [RCV001985027] Chr14:45175297 [GRCh38]
Chr14:45644500 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1015del (p.Asp339fs) deletion Fanconi anemia [RCV001913877] Chr14:45151493 [GRCh38]
Chr14:45620696 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.486A>C (p.Gln162His) single nucleotide variant FANCM-related disorder [RCV004529027]|Fanconi anemia [RCV002039736] Chr14:45136517 [GRCh38]
Chr14:45605720 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys) single nucleotide variant Fanconi anemia [RCV001947285]|Spermatogenic failure 28 [RCV002482544]|not provided [RCV004591604] Chr14:45199929 [GRCh38]
Chr14:45669132 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5290A>G (p.Thr1764Ala) single nucleotide variant FANCM-related disorder [RCV004738435]|Fanconi anemia [RCV001913469]|not provided [RCV003128827] Chr14:45189312 [GRCh38]
Chr14:45658515 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2138del (p.Leu713fs) deletion Fanconi anemia [RCV002039926] Chr14:45170722 [GRCh38]
Chr14:45639925 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.184T>C (p.Tyr62His) single nucleotide variant Fanconi anemia [RCV001969421]|Inborn genetic diseases [RCV004976043]|not provided [RCV002466728] Chr14:45136215 [GRCh38]
Chr14:45605418 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1949A>C (p.Glu650Ala) single nucleotide variant Fanconi anemia [RCV002002205] Chr14:45167110 [GRCh38]
Chr14:45636313 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5221dup (p.Thr1741fs) duplication FANCM-related disorder [RCV004538596]|Fanconi anemia [RCV001912868]|not provided [RCV005001244] Chr14:45189242..45189243 [GRCh38]
Chr14:45658445..45658446 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.736G>A (p.Ala246Thr) single nucleotide variant Fanconi anemia [RCV001964320] Chr14:45140686 [GRCh38]
Chr14:45609889 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2361G>A (p.Met787Ile) single nucleotide variant Fanconi anemia [RCV001947730]|Inborn genetic diseases [RCV002556416] Chr14:45175115 [GRCh38]
Chr14:45644318 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1753A>G (p.Ile585Val) single nucleotide variant Fanconi anemia [RCV002002084] Chr14:45164530 [GRCh38]
Chr14:45633733 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4574A>T (p.Tyr1525Phe) single nucleotide variant Fanconi anemia [RCV002002160]|Inborn genetic diseases [RCV004975984] Chr14:45185275 [GRCh38]
Chr14:45654478 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs) deletion Fanconi anemia [RCV001967617] Chr14:45170625..45170626 [GRCh38]
Chr14:45639828..45639829 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3467G>A (p.Ser1156Asn) single nucleotide variant Fanconi anemia [RCV001948267] Chr14:45176221 [GRCh38]
Chr14:45645424 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1560del (p.Phe520fs) deletion Fanconi anemia [RCV001945326] Chr14:45159256 [GRCh38]
Chr14:45628459 [GRCh37]
Chr14:14q21.2		 pathogenic
NC_000014.8:g.(?_45618030)_(45646189_?)del deletion Fanconi anemia [RCV001926618] Chr14:45618030..45646189 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2831_2832insAATATTCAATTATATTATTACAT (p.Gly945fs) insertion Fanconi anemia [RCV001967676] Chr14:45175585..45175586 [GRCh38]
Chr14:45644788..45644789 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4274G>A (p.Arg1425Lys) single nucleotide variant Fanconi anemia [RCV001892454] Chr14:45181481 [GRCh38]
Chr14:45650684 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.898A>G (p.Ile300Val) single nucleotide variant Fanconi anemia [RCV001890350] Chr14:45148975 [GRCh38]
Chr14:45618178 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4452C>G (p.Phe1484Leu) single nucleotide variant Fanconi anemia [RCV001890840]|Inborn genetic diseases [RCV004975786] Chr14:45183839 [GRCh38]
Chr14:45653042 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1705C>A (p.Arg569Ser) single nucleotide variant FANCM-related disorder [RCV004538594]|Fanconi anemia [RCV001903277] Chr14:45164482 [GRCh38]
Chr14:45633685 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.717T>G (p.Phe239Leu) single nucleotide variant Fanconi anemia [RCV002032329] Chr14:45140667 [GRCh38]
Chr14:45609870 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.374T>C (p.Met125Thr) single nucleotide variant Fanconi anemia [RCV001906750] Chr14:45136405 [GRCh38]
Chr14:45605608 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr) single nucleotide variant Fanconi anemia [RCV001941231]|Inborn genetic diseases [RCV003375468]|Spermatogenic failure 28 [RCV002507619]|not provided [RCV003329423] Chr14:45199871 [GRCh38]
Chr14:45669074 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2567A>C (p.Lys856Thr) single nucleotide variant Fanconi anemia [RCV001903473] Chr14:45175321 [GRCh38]
Chr14:45644524 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5914G>A (p.Ala1972Thr) single nucleotide variant Fanconi anemia [RCV002038143] Chr14:45198841 [GRCh38]
Chr14:45668044 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2316+2T>A single nucleotide variant Fanconi anemia [RCV002001234] Chr14:45173212 [GRCh38]
Chr14:45642415 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.844C>T (p.His282Tyr) single nucleotide variant Fanconi anemia [RCV002037195] Chr14:45148921 [GRCh38]
Chr14:45618124 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly) single nucleotide variant Fanconi anemia [RCV001943234]|Spermatogenic failure 28 [RCV002478380] Chr14:45154736 [GRCh38]
Chr14:45623939 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2237C>T (p.Thr746Ile) single nucleotide variant Fanconi anemia [RCV001867473] Chr14:45173131 [GRCh38]
Chr14:45642334 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4440A>G (p.Gln1480=) single nucleotide variant Fanconi anemia [RCV001992630] Chr14:45183827 [GRCh38]
Chr14:45653030 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3896A>T (p.Asn1299Ile) single nucleotide variant Fanconi anemia [RCV001941376] Chr14:45176650 [GRCh38]
Chr14:45645853 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3525G>A (p.Gln1175=) single nucleotide variant Fanconi anemia [RCV002013280]|Hereditary cancer-predisposing syndrome [RCV002258354] Chr14:45176279 [GRCh38]
Chr14:45645482 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.645A>T (p.Glu215Asp) single nucleotide variant Fanconi anemia [RCV001992709] Chr14:45137205 [GRCh38]
Chr14:45606408 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala) single nucleotide variant Fanconi anemia [RCV001944288]|Spermatogenic failure 28 [RCV002484646] Chr14:45189067 [GRCh38]
Chr14:45658270 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1442TCT[1] (p.Phe482del) microsatellite Fanconi anemia [RCV002014782] Chr14:45159141..45159143 [GRCh38]
Chr14:45628344..45628346 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.388C>G (p.Arg130Gly) single nucleotide variant Fanconi anemia [RCV002036471] Chr14:45136419 [GRCh38]
Chr14:45605622 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3653A>G (p.Glu1218Gly) single nucleotide variant Fanconi anemia [RCV001887394] Chr14:45176407 [GRCh38]
Chr14:45645610 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3065T>C (p.Phe1022Ser) single nucleotide variant Fanconi anemia [RCV001942821] Chr14:45175819 [GRCh38]
Chr14:45645022 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4386+1G>A single nucleotide variant Fanconi anemia [RCV002018194] Chr14:45181706 [GRCh38]
Chr14:45650909 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.2962G>A (p.Ala988Thr) single nucleotide variant Fanconi anemia [RCV001962058] Chr14:45175716 [GRCh38]
Chr14:45644919 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1142C>T (p.Ser381Leu) single nucleotide variant Fanconi anemia [RCV002035027] Chr14:45154011 [GRCh38]
Chr14:45623214 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.759+2T>C single nucleotide variant Fanconi anemia [RCV001961522] Chr14:45140711 [GRCh38]
Chr14:45609914 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4429C>A (p.Pro1477Thr) single nucleotide variant Fanconi anemia [RCV001942868] Chr14:45183816 [GRCh38]
Chr14:45653019 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3323A>G (p.Gln1108Arg) single nucleotide variant Fanconi anemia [RCV001998344] Chr14:45176077 [GRCh38]
Chr14:45645280 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4096G>A (p.Glu1366Lys) single nucleotide variant Fanconi anemia [RCV002000606] Chr14:45176850 [GRCh38]
Chr14:45646053 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5821A>C (p.Thr1941Pro) single nucleotide variant Fanconi anemia [RCV001886431] Chr14:45198748 [GRCh38]
Chr14:45667951 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4775C>T (p.Ser1592Leu) single nucleotide variant Fanconi anemia [RCV001865032]|Inborn genetic diseases [RCV003164119]|not provided [RCV003442926] Chr14:45187883 [GRCh38]
Chr14:45657086 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5419A>G (p.Thr1807Ala) single nucleotide variant Fanconi anemia [RCV001884870]|Inborn genetic diseases [RCV004975797] Chr14:45196250 [GRCh38]
Chr14:45665453 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3224C>A (p.Ser1075Tyr) single nucleotide variant Fanconi anemia [RCV002037423] Chr14:45175978 [GRCh38]
Chr14:45645181 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1942G>A (p.Glu648Lys) single nucleotide variant Fanconi anemia [RCV001918726] Chr14:45167103 [GRCh38]
Chr14:45636306 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6066C>G (p.Ile2022Met) single nucleotide variant Fanconi anemia [RCV001963578] Chr14:45199927 [GRCh38]
Chr14:45669130 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1922T>A (p.Phe641Tyr) single nucleotide variant Fanconi anemia [RCV001943625] Chr14:45167083 [GRCh38]
Chr14:45636286 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5824G>T (p.Ala1942Ser) single nucleotide variant Fanconi anemia [RCV001981330]|not provided [RCV004812424] Chr14:45198751 [GRCh38]
Chr14:45667954 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.971G>C (p.Arg324Thr) single nucleotide variant Fanconi anemia [RCV001898892] Chr14:45151449 [GRCh38]
Chr14:45620652 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4673-2A>C single nucleotide variant Fanconi anemia [RCV002014022] Chr14:45187779 [GRCh38]
Chr14:45656982 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.164A>T (p.Asp55Val) single nucleotide variant Fanconi anemia [RCV001998497]|Spermatogenic failure 28 [RCV002479643] Chr14:45136195 [GRCh38]
Chr14:45605398 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys) single nucleotide variant Fanconi anemia [RCV002001104]|Spermatogenic failure 28 [RCV002497965]|not provided [RCV003170391] Chr14:45167109 [GRCh38]
Chr14:45636312 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5008C>T (p.Pro1670Ser) single nucleotide variant Fanconi anemia [RCV001919096] Chr14:45189030 [GRCh38]
Chr14:45658233 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1786C>A (p.Arg596Ser) single nucleotide variant Fanconi anemia [RCV002016118] Chr14:45164563 [GRCh38]
Chr14:45633766 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1577T>A (p.Leu526Gln) single nucleotide variant Fanconi anemia [RCV002014099] Chr14:45159276 [GRCh38]
Chr14:45628479 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter) single nucleotide variant Fanconi anemia [RCV001916493] Chr14:45196307 [GRCh38]
Chr14:45665510 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5474A>G (p.His1825Arg) single nucleotide variant Fanconi anemia [RCV001935086] Chr14:45196305 [GRCh38]
Chr14:45665508 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3659T>G (p.Ile1220Ser) single nucleotide variant Fanconi anemia [RCV001881549] Chr14:45176413 [GRCh38]
Chr14:45645616 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter) single nucleotide variant Fanconi anemia [RCV001931111] Chr14:45176948 [GRCh38]
Chr14:45646151 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1310-13T>A single nucleotide variant Fanconi anemia [RCV002029327] Chr14:45155360 [GRCh38]
Chr14:45624563 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3292A>G (p.Asn1098Asp) single nucleotide variant Fanconi anemia [RCV001989685] Chr14:45176046 [GRCh38]
Chr14:45645249 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2881_2901del (p.Leu961_Leu967del) deletion Fanconi anemia [RCV001933741] Chr14:45175633..45175653 [GRCh38]
Chr14:45644836..45644856 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1788+6T>G single nucleotide variant Fanconi anemia [RCV001899242] Chr14:45164571 [GRCh38]
Chr14:45633774 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2066A>G (p.Asn689Ser) single nucleotide variant Fanconi anemia [RCV001989939]|not provided [RCV004774560] Chr14:45170652 [GRCh38]
Chr14:45639855 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.466C>T (p.Gln156Ter) single nucleotide variant FANCM-related disorder [RCV004728940]|Fanconi anemia [RCV001954597] Chr14:45136497 [GRCh38]
Chr14:45605700 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.1397-1G>T single nucleotide variant Fanconi anemia [RCV001957067] Chr14:45159095 [GRCh38]
Chr14:45628298 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4271G>A (p.Arg1424Gln) single nucleotide variant Fanconi anemia [RCV001883127]|Inborn genetic diseases [RCV004980841]|not provided [RCV003238874] Chr14:45181478 [GRCh38]
Chr14:45650681 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1021T>C (p.Phe341Leu) single nucleotide variant Fanconi anemia [RCV001876489] Chr14:45151499 [GRCh38]
Chr14:45620702 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3667T>G (p.Cys1223Gly) single nucleotide variant Fanconi anemia [RCV001867417]|Inborn genetic diseases [RCV004980817] Chr14:45176421 [GRCh38]
Chr14:45645624 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser) single nucleotide variant Fanconi anemia [RCV002047156]|Hereditary cancer-predisposing syndrome [RCV002259144]|Inborn genetic diseases [RCV004616794]|Spermatogenic failure 28 [RCV002482443]|not provided [RCV002290777] Chr14:45175131 [GRCh38]
Chr14:45644334 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.108C>T (p.Gly36=) single nucleotide variant Fanconi anemia [RCV001935391] Chr14:45136139 [GRCh38]
Chr14:45605342 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2589del (p.Asp864fs) deletion Fanconi anemia [RCV001936499] Chr14:45175337 [GRCh38]
Chr14:45644540 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.6099A>G (p.Gln2033=) single nucleotide variant FANCM-related disorder [RCV004542163]|Fanconi anemia [RCV001922571] Chr14:45199960 [GRCh38]
Chr14:45669163 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2687A>G (p.Asn896Ser) single nucleotide variant Fanconi anemia [RCV001876721]|not provided [RCV002463048] Chr14:45175441 [GRCh38]
Chr14:45644644 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3613G>A (p.Asp1205Asn) single nucleotide variant Fanconi anemia [RCV002012184] Chr14:45176367 [GRCh38]
Chr14:45645570 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5849T>C (p.Leu1950Ser) single nucleotide variant Fanconi anemia [RCV001931603]|Inborn genetic diseases [RCV002560697] Chr14:45198776 [GRCh38]
Chr14:45667979 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1577T>C (p.Leu526Pro) single nucleotide variant Fanconi anemia [RCV001875276] Chr14:45159276 [GRCh38]
Chr14:45628479 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1916A>G (p.Lys639Arg) single nucleotide variant Fanconi anemia [RCV001903977] Chr14:45167077 [GRCh38]
Chr14:45636280 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1037C>A (p.Ser346Tyr) single nucleotide variant Fanconi anemia [RCV001991566] Chr14:45151515 [GRCh38]
Chr14:45620718 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1100T>C (p.Leu367Ser) single nucleotide variant Fanconi anemia [RCV001917173]|not provided [RCV003159216] Chr14:45153969 [GRCh38]
Chr14:45623172 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2582_2584del (p.Ile861del) deletion Fanconi anemia [RCV001952369] Chr14:45175334..45175336 [GRCh38]
Chr14:45644537..45644539 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3367C>T (p.Leu1123Phe) single nucleotide variant Fanconi anemia [RCV001990519] Chr14:45176121 [GRCh38]
Chr14:45645324 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2305A>G (p.Arg769Gly) single nucleotide variant Fanconi anemia [RCV001899883] Chr14:45173199 [GRCh38]
Chr14:45642402 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.17G>T (p.Arg6Ile) single nucleotide variant Fanconi anemia [RCV001991902] Chr14:45136048 [GRCh38]
Chr14:45605251 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1420C>T (p.Arg474Cys) single nucleotide variant Fanconi anemia [RCV002012836] Chr14:45159119 [GRCh38]
Chr14:45628322 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5095A>G (p.Lys1699Glu) single nucleotide variant Fanconi anemia [RCV001979933] Chr14:45189117 [GRCh38]
Chr14:45658320 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4981A>G (p.Lys1661Glu) single nucleotide variant Fanconi anemia [RCV001905742] Chr14:45189003 [GRCh38]
Chr14:45658206 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.893C>T (p.Ala298Val) single nucleotide variant Fanconi anemia [RCV001878760] Chr14:45148970 [GRCh38]
Chr14:45618173 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys) single nucleotide variant Fanconi anemia [RCV001899267]|Spermatogenic failure 28 [RCV002482569]|not provided [RCV003232446] Chr14:45176652 [GRCh38]
Chr14:45645855 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2548A>G (p.Ile850Val) single nucleotide variant Fanconi anemia [RCV001905186] Chr14:45175302 [GRCh38]
Chr14:45644505 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3468C>T (p.Ser1156=) single nucleotide variant Fanconi anemia [RCV002049451] Chr14:45176222 [GRCh38]
Chr14:45645425 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3785G>A (p.Arg1262Lys) single nucleotide variant Fanconi anemia [RCV002027070] Chr14:45176539 [GRCh38]
Chr14:45645742 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5240A>G (p.Asp1747Gly) single nucleotide variant Fanconi anemia [RCV001960993]|not provided [RCV003235638] Chr14:45189262 [GRCh38]
Chr14:45658465 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4406A>G (p.Asp1469Gly) single nucleotide variant Fanconi anemia [RCV002036222]|Inborn genetic diseases [RCV004976196]|not provided [RCV003222382] Chr14:45183793 [GRCh38]
Chr14:45652996 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3293A>G (p.Asn1098Ser) single nucleotide variant Fanconi anemia [RCV001990082] Chr14:45176047 [GRCh38]
Chr14:45645250 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45618030)_(45618208_?)del deletion Fanconi anemia [RCV001956010] Chr14:45618030..45618208 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter) single nucleotide variant Fanconi anemia [RCV001994869]|not provided [RCV003442976] Chr14:45176382 [GRCh38]
Chr14:45645585 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.3829A>G (p.Asn1277Asp) single nucleotide variant Fanconi anemia [RCV001936261]|Inborn genetic diseases [RCV003167308]|not provided [RCV003126007] Chr14:45176583 [GRCh38]
Chr14:45645786 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1783G>A (p.Glu595Lys) single nucleotide variant Fanconi anemia [RCV001994909] Chr14:45164560 [GRCh38]
Chr14:45633763 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3095A>G (p.Asp1032Gly) single nucleotide variant Fanconi anemia [RCV001991419]|Inborn genetic diseases [RCV004616950] Chr14:45175849 [GRCh38]
Chr14:45645052 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.681+19G>A single nucleotide variant Fanconi anemia [RCV002017803] Chr14:45137260 [GRCh38]
Chr14:45606463 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3593C>G (p.Ala1198Gly) single nucleotide variant Fanconi anemia [RCV001938606] Chr14:45176347 [GRCh38]
Chr14:45645550 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu) single nucleotide variant Fanconi anemia [RCV001915606]|Spermatogenic failure 28 [RCV002478341]|not provided [RCV003327536] Chr14:45175513 [GRCh38]
Chr14:45644716 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3242G>A (p.Cys1081Tyr) single nucleotide variant Fanconi anemia [RCV001903170] Chr14:45175996 [GRCh38]
Chr14:45645199 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4391A>G (p.Glu1464Gly) single nucleotide variant Fanconi anemia [RCV002017311] Chr14:45183778 [GRCh38]
Chr14:45652981 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3539A>G (p.Asp1180Gly) single nucleotide variant Fanconi anemia [RCV002046066] Chr14:45176293 [GRCh38]
Chr14:45645496 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3212A>G (p.Asn1071Ser) single nucleotide variant Fanconi anemia [RCV001864897]|Inborn genetic diseases [RCV002547993]|not provided [RCV003442925] Chr14:45175966 [GRCh38]
Chr14:45645169 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5679A>T (p.Arg1893Ser) single nucleotide variant Fanconi anemia [RCV001955019] Chr14:45196510 [GRCh38]
Chr14:45665713 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4708C>A (p.Arg1570Ser) single nucleotide variant Fanconi anemia [RCV001884096] Chr14:45187816 [GRCh38]
Chr14:45657019 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2275A>G (p.Ile759Val) single nucleotide variant Fanconi anemia [RCV001955057] Chr14:45173169 [GRCh38]
Chr14:45642372 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5736T>A (p.Phe1912Leu) single nucleotide variant Fanconi anemia [RCV002028861]|Inborn genetic diseases [RCV004976139] Chr14:45198663 [GRCh38]
Chr14:45667866 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5041A>G (p.Asn1681Asp) single nucleotide variant Fanconi anemia [RCV001978118] Chr14:45189063 [GRCh38]
Chr14:45658266 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4504_4505del (p.His1503fs) microsatellite Fanconi anemia [RCV001938169] Chr14:45183889..45183890 [GRCh38]
Chr14:45653092..45653093 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4319A>G (p.Asp1440Gly) single nucleotide variant Fanconi anemia [RCV001866851] Chr14:45181638 [GRCh38]
Chr14:45650841 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2590del (p.Asp864fs) deletion Fanconi anemia [RCV001901339] Chr14:45175344 [GRCh38]
Chr14:45644547 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5104G>T (p.Asp1702Tyr) single nucleotide variant Fanconi anemia [RCV002015864] Chr14:45189126 [GRCh38]
Chr14:45658329 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.539T>C (p.Ile180Thr) single nucleotide variant Fanconi anemia [RCV001981567] Chr14:45137099 [GRCh38]
Chr14:45606302 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1598G>A (p.Arg533His) single nucleotide variant Fanconi anemia [RCV002046410]|not provided [RCV004774619] Chr14:45164375 [GRCh38]
Chr14:45633578 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4320T>G (p.Asp1440Glu) single nucleotide variant Fanconi anemia [RCV001903424] Chr14:45181639 [GRCh38]
Chr14:45650842 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.256C>T (p.Pro86Ser) single nucleotide variant Fanconi anemia [RCV002036549]|Inborn genetic diseases [RCV004976198] Chr14:45136287 [GRCh38]
Chr14:45605490 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4005del (p.Val1336fs) deletion Fanconi anemia [RCV001975023]|not provided [RCV003478907] Chr14:45176752 [GRCh38]
Chr14:45645955 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.1236_1237del (p.Leu412_Tyr413insTer) microsatellite Fanconi anemia [RCV001972442]|not provided [RCV005002722] Chr14:45154747..45154748 [GRCh38]
Chr14:45623950..45623951 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.3550T>G (p.Leu1184Val) single nucleotide variant Fanconi anemia [RCV002047828]|not provided [RCV004774605] Chr14:45176304 [GRCh38]
Chr14:45645507 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45605235)_(45609922_?)del deletion Fanconi anemia [RCV001972456] Chr14:45605235..45609922 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.650A>G (p.His217Arg) single nucleotide variant Fanconi anemia [RCV001989563]|not provided [RCV004763294] Chr14:45137210 [GRCh38]
Chr14:45606413 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45605235)_(45669211_?)dup duplication Fanconi anemia [RCV001955527] Chr14:45605235..45669211 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5156G>T (p.Arg1719Leu) single nucleotide variant Fanconi anemia [RCV001938199]|Inborn genetic diseases [RCV004975876] Chr14:45189178 [GRCh38]
Chr14:45658381 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1472A>G (p.Glu491Gly) single nucleotide variant Fanconi anemia [RCV001881884] Chr14:45159171 [GRCh38]
Chr14:45628374 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.760-6A>G single nucleotide variant Fanconi anemia [RCV001936690] Chr14:45148831 [GRCh38]
Chr14:45618034 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1805A>G (p.Gln602Arg) single nucleotide variant FANCM-related disorder [RCV004529063]|Fanconi anemia [RCV001979922] Chr14:45166966 [GRCh38]
Chr14:45636169 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3205A>G (p.Ile1069Val) single nucleotide variant Fanconi anemia [RCV002035793] Chr14:45175959 [GRCh38]
Chr14:45645162 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs) deletion Fanconi anemia [RCV001884529] Chr14:45176228..45176229 [GRCh38]
Chr14:45645431..45645432 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1915A>G (p.Lys639Glu) single nucleotide variant Fanconi anemia [RCV001981430]|Inborn genetic diseases [RCV004975959] Chr14:45167076 [GRCh38]
Chr14:45636279 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4657T>G (p.Ser1553Ala) single nucleotide variant Fanconi anemia [RCV002019466] Chr14:45185358 [GRCh38]
Chr14:45654561 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5658C>G (p.His1886Gln) single nucleotide variant Fanconi anemia [RCV001907472]|not provided [RCV003222354] Chr14:45196489 [GRCh38]
Chr14:45665692 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4439A>G (p.Gln1480Arg) single nucleotide variant Fanconi anemia [RCV001884805]|not provided [RCV003222359] Chr14:45183826 [GRCh38]
Chr14:45653029 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2971_2972delinsAG (p.Glu991Arg) indel Fanconi anemia [RCV001925756] Chr14:45175725..45175726 [GRCh38]
Chr14:45644928..45644929 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1533T>A (p.His511Gln) single nucleotide variant Fanconi anemia [RCV001981844] Chr14:45159232 [GRCh38]
Chr14:45628435 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1984A>G (p.Ile662Val) single nucleotide variant Fanconi anemia [RCV001940812] Chr14:45167145 [GRCh38]
Chr14:45636348 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2286G>A (p.Met762Ile) single nucleotide variant Fanconi anemia [RCV001997588] Chr14:45173180 [GRCh38]
Chr14:45642383 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4739T>G (p.Met1580Arg) single nucleotide variant Fanconi anemia [RCV001980606] Chr14:45187847 [GRCh38]
Chr14:45657050 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3476T>C (p.Leu1159Ser) single nucleotide variant Fanconi anemia [RCV001997795]|not provided [RCV004591667] Chr14:45176230 [GRCh38]
Chr14:45645433 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5380del (p.Ser1794fs) deletion Fanconi anemia [RCV002035375] Chr14:45196211 [GRCh38]
Chr14:45665414 [GRCh37]
Chr14:14q21.2		 pathogenic
NC_000014.8:g.(?_45630372)_(45633544_?)del deletion Fanconi anemia [RCV001981352] Chr14:45630372..45633544 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5237C>T (p.Ser1746Leu) single nucleotide variant Fanconi anemia [RCV001961059] Chr14:45189259 [GRCh38]
Chr14:45658462 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser) single nucleotide variant Fanconi anemia [RCV001925846]|Spermatogenic failure 28 [RCV002484480] Chr14:45196228 [GRCh38]
Chr14:45665431 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1844del (p.Asn615fs) deletion Fanconi anemia [RCV001940429] Chr14:45167004 [GRCh38]
Chr14:45636207 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2662A>C (p.Asn888His) single nucleotide variant Fanconi anemia [RCV002019733] Chr14:45175416 [GRCh38]
Chr14:45644619 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2729G>A (p.Cys910Tyr) single nucleotide variant Fanconi anemia [RCV002036452]|not provided [RCV004999616] Chr14:45175483 [GRCh38]
Chr14:45644686 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1315A>G (p.Lys439Glu) single nucleotide variant Fanconi anemia [RCV001915690] Chr14:45155378 [GRCh38]
Chr14:45624581 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5341-19G>A single nucleotide variant Fanconi anemia [RCV001988935]|Spermatogenic failure 28 [RCV002497980] Chr14:45196153 [GRCh38]
Chr14:45665356 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4145A>G (p.Asp1382Gly) single nucleotide variant Fanconi anemia [RCV002012277] Chr14:45176899 [GRCh38]
Chr14:45646102 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4107C>A (p.Asn1369Lys) single nucleotide variant Fanconi anemia [RCV001954701] Chr14:45176861 [GRCh38]
Chr14:45646064 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5447A>G (p.Lys1816Arg) single nucleotide variant Fanconi anemia [RCV001921337] Chr14:45196278 [GRCh38]
Chr14:45665481 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2545A>G (p.Lys849Glu) single nucleotide variant Fanconi anemia [RCV001897072] Chr14:45175299 [GRCh38]
Chr14:45644502 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1253G>A (p.Cys418Tyr) single nucleotide variant Fanconi anemia [RCV001990171] Chr14:45154766 [GRCh38]
Chr14:45623969 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1678T>C (p.Cys560Arg) single nucleotide variant Fanconi anemia [RCV001954798] Chr14:45164455 [GRCh38]
Chr14:45633658 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.470T>A (p.Val157Glu) single nucleotide variant Fanconi anemia [RCV001937389] Chr14:45136501 [GRCh38]
Chr14:45605704 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4568C>G (p.Ala1523Gly) single nucleotide variant Fanconi anemia [RCV001922826] Chr14:45185269 [GRCh38]
Chr14:45654472 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3819T>A (p.Asn1273Lys) single nucleotide variant Fanconi anemia [RCV001901726]|not provided [RCV003327535] Chr14:45176573 [GRCh38]
Chr14:45645776 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4943T>G (p.Met1648Arg) single nucleotide variant Fanconi anemia [RCV001978947] Chr14:45188965 [GRCh38]
Chr14:45658168 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3244G>A (p.Asp1082Asn) single nucleotide variant Fanconi anemia [RCV001935248] Chr14:45175998 [GRCh38]
Chr14:45645201 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4859A>G (p.Glu1620Gly) single nucleotide variant Fanconi anemia [RCV002046259] Chr14:45188881 [GRCh38]
Chr14:45658084 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3347A>G (p.His1116Arg) single nucleotide variant Fanconi anemia [RCV001933344]|not provided [RCV002473325] Chr14:45176101 [GRCh38]
Chr14:45645304 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4103T>C (p.Val1368Ala) single nucleotide variant Fanconi anemia [RCV002030141] Chr14:45176857 [GRCh38]
Chr14:45646060 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg) single nucleotide variant Fanconi anemia [RCV001919746]|Spermatogenic failure 28 [RCV002490166] Chr14:45183841 [GRCh38]
Chr14:45653044 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1A>G (p.Met1Val) single nucleotide variant Fanconi anemia [RCV001936271] Chr14:45136032 [GRCh38]
Chr14:45605235 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1913A>G (p.His638Arg) single nucleotide variant Fanconi anemia [RCV001930761] Chr14:45167074 [GRCh38]
Chr14:45636277 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5669T>C (p.Met1890Thr) single nucleotide variant Fanconi anemia [RCV001993996] Chr14:45196500 [GRCh38]
Chr14:45665703 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5317A>G (p.Arg1773Gly) single nucleotide variant Fanconi anemia [RCV001920841] Chr14:45189339 [GRCh38]
Chr14:45658542 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe) single nucleotide variant Fanconi anemia [RCV001937886]|Spermatogenic failure 28 [RCV002490243] Chr14:45176298 [GRCh38]
Chr14:45645501 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3504T>G (p.Ser1168Arg) single nucleotide variant Fanconi anemia [RCV001904630] Chr14:45176258 [GRCh38]
Chr14:45645461 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1255A>G (p.Met419Val) single nucleotide variant Fanconi anemia [RCV002026492]|Spermatogenic failure 28 [RCV005002774]|not provided [RCV003328692] Chr14:45154768 [GRCh38]
Chr14:45623971 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5578C>G (p.Arg1860Gly) single nucleotide variant Fanconi anemia [RCV001955046] Chr14:45196409 [GRCh38]
Chr14:45665612 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1717C>T (p.Arg573Ter) single nucleotide variant Fanconi anemia [RCV001993204]|not provided [RCV004770311] Chr14:45164494 [GRCh38]
Chr14:45633697 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.6055G>C (p.Ala2019Pro) single nucleotide variant Fanconi anemia [RCV001996550] Chr14:45199916 [GRCh38]
Chr14:45669119 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4105A>G (p.Asn1369Asp) single nucleotide variant Fanconi anemia [RCV002029340] Chr14:45176859 [GRCh38]
Chr14:45646062 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6071_6076del (p.Arg2024_Tyr2025del) deletion Fanconi anemia [RCV001978002]|not provided [RCV003478913] Chr14:45199928..45199933 [GRCh38]
Chr14:45669131..45669136 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1253G>C (p.Cys418Ser) single nucleotide variant Fanconi anemia [RCV001931867] Chr14:45154766 [GRCh38]
Chr14:45623969 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.809G>A (p.Arg270His) single nucleotide variant Fanconi anemia [RCV001880726]|Spermatogenic failure 28 [RCV002478197]|not provided [RCV004762212] Chr14:45148886 [GRCh38]
Chr14:45618089 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5754T>C (p.Tyr1918=) single nucleotide variant Fanconi anemia [RCV002109823] Chr14:45198681 [GRCh38]
Chr14:45667884 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1521T>G (p.Thr507=) single nucleotide variant Fanconi anemia [RCV002210311] Chr14:45159220 [GRCh38]
Chr14:45628423 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1098T>C (p.Ser366=) single nucleotide variant Fanconi anemia [RCV002148466] Chr14:45153967 [GRCh38]
Chr14:45623170 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1310-13T>C single nucleotide variant Fanconi anemia [RCV002170266]|not provided [RCV003128794] Chr14:45155360 [GRCh38]
Chr14:45624563 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4515+14del deletion Fanconi anemia [RCV002206957]|Spermatogenic failure 28 [RCV002507910] Chr14:45183909 [GRCh38]
Chr14:45653112 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.4908A>G (p.Ala1636=) single nucleotide variant Fanconi anemia [RCV002108297] Chr14:45188930 [GRCh38]
Chr14:45658133 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5340+13G>T single nucleotide variant Fanconi anemia [RCV002166842] Chr14:45189375 [GRCh38]
Chr14:45658578 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2161-4dup duplication Fanconi anemia [RCV002190683]|not provided [RCV002286869] Chr14:45173049..45173050 [GRCh38]
Chr14:45642252..45642253 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1310-18A>G single nucleotide variant Fanconi anemia [RCV002126829] Chr14:45155355 [GRCh38]
Chr14:45624558 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5415A>G (p.Thr1805=) single nucleotide variant Fanconi anemia [RCV002086377] Chr14:45196246 [GRCh38]
Chr14:45665449 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2002+16A>G single nucleotide variant Fanconi anemia [RCV002107553] Chr14:45167179 [GRCh38]
Chr14:45636382 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3657T>C (p.Asp1219=) single nucleotide variant Fanconi anemia [RCV002167449] Chr14:45176411 [GRCh38]
Chr14:45645614 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2160+12A>G single nucleotide variant Fanconi anemia [RCV002207537] Chr14:45170758 [GRCh38]
Chr14:45639961 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1176A>C (p.Gly392=) single nucleotide variant Fanconi anemia [RCV002208208] Chr14:45154045 [GRCh38]
Chr14:45623248 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3705A>G (p.Gly1235=) single nucleotide variant Fanconi anemia [RCV002169276] Chr14:45176459 [GRCh38]
Chr14:45645662 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4989A>G (p.Lys1663=) single nucleotide variant Fanconi anemia [RCV002086848] Chr14:45189011 [GRCh38]
Chr14:45658214 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.111C>T (p.Ser37=) single nucleotide variant FANCM-related disorder [RCV004538756]|Fanconi anemia [RCV002086866] Chr14:45136142 [GRCh38]
Chr14:45605345 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5127T>C (p.Pro1709=) single nucleotide variant Fanconi anemia [RCV002091382] Chr14:45189149 [GRCh38]
Chr14:45658352 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5005T>C (p.Leu1669=) single nucleotide variant Fanconi anemia [RCV002147883] Chr14:45189027 [GRCh38]
Chr14:45658230 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1788+19A>G single nucleotide variant Fanconi anemia [RCV002190503] Chr14:45164584 [GRCh38]
Chr14:45633787 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4222+15_4222+16insAT insertion Fanconi anemia [RCV002166378] Chr14:45176990..45176991 [GRCh38]
Chr14:45646193..45646194 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6009-18G>T single nucleotide variant Fanconi anemia [RCV002128318] Chr14:45199852 [GRCh38]
Chr14:45669055 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1581+15A>G single nucleotide variant Fanconi anemia [RCV002085987] Chr14:45159295 [GRCh38]
Chr14:45628498 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1581+14G>C single nucleotide variant Fanconi anemia [RCV002208858] Chr14:45159294 [GRCh38]
Chr14:45628497 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.954G>A (p.Arg318=) single nucleotide variant Fanconi anemia [RCV002207147]|Hereditary cancer-predisposing syndrome [RCV002258366]|not provided [RCV003478930] Chr14:45151432 [GRCh38]
Chr14:45620635 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2088C>T (p.Asp696=) single nucleotide variant Fanconi anemia [RCV002105243] Chr14:45170674 [GRCh38]
Chr14:45639877 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.509-13C>T single nucleotide variant Fanconi anemia [RCV002125816] Chr14:45137056 [GRCh38]
Chr14:45606259 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1389A>T (p.Ser463=) single nucleotide variant Fanconi anemia [RCV002086853] Chr14:45155452 [GRCh38]
Chr14:45624655 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4387-12G>T single nucleotide variant Fanconi anemia [RCV002188201] Chr14:45183762 [GRCh38]
Chr14:45652965 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5604A>G (p.Gln1868=) single nucleotide variant Fanconi anemia [RCV002206100] Chr14:45196435 [GRCh38]
Chr14:45665638 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4317+8A>T single nucleotide variant Fanconi anemia [RCV002205357] Chr14:45181532 [GRCh38]
Chr14:45650735 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1071C>T (p.Ile357=) single nucleotide variant Fanconi anemia [RCV002107925]|not provided [RCV004770408] Chr14:45153940 [GRCh38]
Chr14:45623143 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.75C>T (p.Cys25=) single nucleotide variant Fanconi anemia [RCV002071173]|Inborn genetic diseases [RCV004976205] Chr14:45136106 [GRCh38]
Chr14:45605309 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1866C>T (p.Tyr622=) single nucleotide variant Fanconi anemia [RCV002165579] Chr14:45167027 [GRCh38]
Chr14:45636230 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1051-19A>G single nucleotide variant Fanconi anemia [RCV002185374] Chr14:45153901 [GRCh38]
Chr14:45623104 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.767A>G (p.Gln256Arg) single nucleotide variant not specified [RCV002247819] Chr14:45148844 [GRCh38]
Chr14:45618047 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4007T>A (p.Val1336Asp) single nucleotide variant not specified [RCV002247823] Chr14:45176761 [GRCh38]
Chr14:45645964 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.760-19C>T single nucleotide variant Fanconi anemia [RCV002071758] Chr14:45148818 [GRCh38]
Chr14:45618021 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4002A>G (p.Lys1334=) single nucleotide variant Fanconi anemia [RCV002111077] Chr14:45176756 [GRCh38]
Chr14:45645959 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4731G>A (p.Lys1577=) single nucleotide variant Fanconi anemia [RCV002112007] Chr14:45187839 [GRCh38]
Chr14:45657042 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6008+9G>A single nucleotide variant Fanconi anemia [RCV002169923] Chr14:45198944 [GRCh38]
Chr14:45668147 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6008+12G>A single nucleotide variant Fanconi anemia [RCV002112081] Chr14:45198947 [GRCh38]
Chr14:45668150 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2161-18A>G single nucleotide variant Fanconi anemia [RCV002096692] Chr14:45173037 [GRCh38]
Chr14:45642240 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.465C>T (p.Tyr155=) single nucleotide variant Fanconi anemia [RCV002216157] Chr14:45136496 [GRCh38]
Chr14:45605699 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2003-16T>C single nucleotide variant Fanconi anemia [RCV002212660] Chr14:45170573 [GRCh38]
Chr14:45639776 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5716+23_5716+26del deletion Fanconi anemia [RCV002145905] Chr14:45196567..45196570 [GRCh38]
Chr14:45665770..45665773 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1051-12C>T single nucleotide variant Fanconi anemia [RCV002091069] Chr14:45153908 [GRCh38]
Chr14:45623111 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3072C>G (p.Pro1024=) single nucleotide variant Fanconi anemia [RCV002185020] Chr14:45175826 [GRCh38]
Chr14:45645029 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2595G>A (p.Gln865=) single nucleotide variant Fanconi anemia [RCV002104921] Chr14:45175349 [GRCh38]
Chr14:45644552 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1184-20C>A single nucleotide variant Fanconi anemia [RCV002107871]|Spermatogenic failure 28 [RCV002486883] Chr14:45154677 [GRCh38]
Chr14:45623880 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1310-7G>C single nucleotide variant Fanconi anemia [RCV002196843] Chr14:45155366 [GRCh38]
Chr14:45624569 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5341-10A>G single nucleotide variant Fanconi anemia [RCV002164870] Chr14:45196162 [GRCh38]
Chr14:45665365 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4575T>C (p.Tyr1525=) single nucleotide variant Fanconi anemia [RCV002131956]|not provided [RCV002246688] Chr14:45185276 [GRCh38]
Chr14:45654479 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3360C>T (p.Asn1120=) single nucleotide variant Fanconi anemia [RCV002077736] Chr14:45176114 [GRCh38]
Chr14:45645317 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.54A>G (p.Arg18=) single nucleotide variant Fanconi anemia [RCV002193847] Chr14:45136085 [GRCh38]
Chr14:45605288 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2002+19T>C single nucleotide variant Fanconi anemia [RCV002173968] Chr14:45167182 [GRCh38]
Chr14:45636385 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4780-16T>C single nucleotide variant Fanconi anemia [RCV002197329] Chr14:45188786 [GRCh38]
Chr14:45657989 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5436G>A (p.Pro1812=) single nucleotide variant Fanconi anemia [RCV002110278] Chr14:45196267 [GRCh38]
Chr14:45665470 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3480T>C (p.Pro1160=) single nucleotide variant Fanconi anemia [RCV002214033] Chr14:45176234 [GRCh38]
Chr14:45645437 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5103G>A (p.Gln1701=) single nucleotide variant Fanconi anemia [RCV002090462] Chr14:45189125 [GRCh38]
Chr14:45658328 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1397-20G>A single nucleotide variant Fanconi anemia [RCV002132628] Chr14:45159076 [GRCh38]
Chr14:45628279 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1183+15A>T single nucleotide variant Fanconi anemia [RCV002079419] Chr14:45154067 [GRCh38]
Chr14:45623270 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3747A>G (p.Thr1249=) single nucleotide variant Fanconi anemia [RCV002094066]|not provided [RCV003154237] Chr14:45176501 [GRCh38]
Chr14:45645704 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.1051-18C>T single nucleotide variant Fanconi anemia [RCV002114613] Chr14:45153902 [GRCh38]
Chr14:45623105 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4223-15A>C single nucleotide variant Fanconi anemia [RCV002116361] Chr14:45181415 [GRCh38]
Chr14:45650618 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.682-7dup duplication Fanconi anemia [RCV002079179] Chr14:45140616..45140617 [GRCh38]
Chr14:45609819..45609820 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.1581+17T>C single nucleotide variant Fanconi anemia [RCV002193000] Chr14:45159297 [GRCh38]
Chr14:45628500 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2160+9A>G single nucleotide variant Fanconi anemia [RCV002095498] Chr14:45170755 [GRCh38]
Chr14:45639958 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.784C>T (p.Leu262=) single nucleotide variant Fanconi anemia [RCV002214037] Chr14:45148861 [GRCh38]
Chr14:45618064 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4673-15C>G single nucleotide variant Fanconi anemia [RCV002079382] Chr14:45187766 [GRCh38]
Chr14:45656969 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2799C>T (p.Ser933=) single nucleotide variant Fanconi anemia [RCV002172477] Chr14:45175553 [GRCh38]
Chr14:45644756 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3594T>C (p.Ala1198=) single nucleotide variant Fanconi anemia [RCV002080376] Chr14:45176348 [GRCh38]
Chr14:45645551 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4449C>T (p.Asp1483=) single nucleotide variant Fanconi anemia [RCV002080382] Chr14:45183836 [GRCh38]
Chr14:45653039 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1310-12del deletion Fanconi anemia [RCV002075634] Chr14:45155361 [GRCh38]
Chr14:45624564 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4387-12G>A single nucleotide variant Fanconi anemia [RCV002095006] Chr14:45183762 [GRCh38]
Chr14:45652965 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1789-14A>G single nucleotide variant Fanconi anemia [RCV002114317] Chr14:45166936 [GRCh38]
Chr14:45636139 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=) single nucleotide variant Fanconi anemia [RCV002090619]|Spermatogenic failure 28 [RCV002486855] Chr14:45187794 [GRCh38]
Chr14:45656997 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3988T>C (p.Leu1330=) single nucleotide variant Fanconi anemia [RCV002101528] Chr14:45176742 [GRCh38]
Chr14:45645945 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1184-15T>A single nucleotide variant Fanconi anemia [RCV002220290] Chr14:45154682 [GRCh38]
Chr14:45623885 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4599G>A (p.Glu1533=) single nucleotide variant Fanconi anemia [RCV002218344] Chr14:45185300 [GRCh38]
Chr14:45654503 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1236C>G (p.Leu412=) single nucleotide variant Fanconi anemia [RCV002201437]|Inborn genetic diseases [RCV004973361] Chr14:45154749 [GRCh38]
Chr14:45623952 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.681+12G>A single nucleotide variant Fanconi anemia [RCV002218645] Chr14:45137253 [GRCh38]
Chr14:45606456 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.339C>T (p.Thr113=) single nucleotide variant Fanconi anemia [RCV002135838] Chr14:45136370 [GRCh38]
Chr14:45605573 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5277C>T (p.Thr1759=) single nucleotide variant Fanconi anemia [RCV002098454] Chr14:45189299 [GRCh38]
Chr14:45658502 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.315C>T (p.Cys105=) single nucleotide variant Fanconi anemia [RCV002218961]|Inborn genetic diseases [RCV004976230] Chr14:45136346 [GRCh38]
Chr14:45605549 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1563C>G (p.Thr521=) single nucleotide variant Fanconi anemia [RCV002139502] Chr14:45159262 [GRCh38]
Chr14:45628465 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5340+18G>A single nucleotide variant Fanconi anemia [RCV002200361] Chr14:45189380 [GRCh38]
Chr14:45658583 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4461T>C (p.Cys1487=) single nucleotide variant Fanconi anemia [RCV002160363] Chr14:45183848 [GRCh38]
Chr14:45653051 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4395A>G (p.Leu1465=) single nucleotide variant Fanconi anemia [RCV002138155] Chr14:45183782 [GRCh38]
Chr14:45652985 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3384T>G (p.Thr1128=) single nucleotide variant Fanconi anemia [RCV002100775] Chr14:45176138 [GRCh38]
Chr14:45645341 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1584A>G (p.Val528=) single nucleotide variant Fanconi anemia [RCV002217773] Chr14:45164361 [GRCh38]
Chr14:45633564 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.604G>T (p.Ala202Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258413] Chr14:45137164 [GRCh38]
Chr14:45606367 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2958A>C (p.Val986=) single nucleotide variant Fanconi anemia [RCV002137407] Chr14:45175712 [GRCh38]
Chr14:45644915 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2074T>C (p.Tyr692His) single nucleotide variant not specified [RCV002247822] Chr14:45170660 [GRCh38]
Chr14:45639863 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2877A>G (p.Leu959=) single nucleotide variant Fanconi anemia [RCV002123908] Chr14:45175631 [GRCh38]
Chr14:45644834 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2493A>G (p.Glu831=) single nucleotide variant Fanconi anemia [RCV002098494] Chr14:45175247 [GRCh38]
Chr14:45644450 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4672+11T>C single nucleotide variant Fanconi anemia [RCV002100411] Chr14:45185384 [GRCh38]
Chr14:45654587 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1251G>A (p.Glu417=) single nucleotide variant Fanconi anemia [RCV002139783] Chr14:45154764 [GRCh38]
Chr14:45623967 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4387-4A>G single nucleotide variant Fanconi anemia [RCV002163719] Chr14:45183770 [GRCh38]
Chr14:45652973 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1582-16A>C single nucleotide variant Fanconi anemia [RCV002098583] Chr14:45164343 [GRCh38]
Chr14:45633546 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4222+16T>A single nucleotide variant Fanconi anemia [RCV002163992] Chr14:45176992 [GRCh38]
Chr14:45646195 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5716+12T>G single nucleotide variant Fanconi anemia [RCV002136317] Chr14:45196559 [GRCh38]
Chr14:45665762 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3567A>G (p.Glu1189=) single nucleotide variant Fanconi anemia [RCV002204621] Chr14:45176321 [GRCh38]
Chr14:45645524 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2316+12T>C single nucleotide variant Fanconi anemia [RCV002162460] Chr14:45173222 [GRCh38]
Chr14:45642425 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1617G>A (p.Thr539=) single nucleotide variant Fanconi anemia [RCV002101116] Chr14:45164394 [GRCh38]
Chr14:45633597 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2335T>C (p.Leu779=) single nucleotide variant Fanconi anemia [RCV002176545] Chr14:45175089 [GRCh38]
Chr14:45644292 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3066C>T (p.Phe1022=) single nucleotide variant Fanconi anemia [RCV002101212]|Inborn genetic diseases [RCV004973310] Chr14:45175820 [GRCh38]
Chr14:45645023 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4821T>C (p.Cys1607=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255792] Chr14:45188843 [GRCh38]
Chr14:45658046 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.105T>C (p.Pro35=) single nucleotide variant Fanconi anemia [RCV002162691]|not provided [RCV002480968] Chr14:45136136 [GRCh38]
Chr14:45605339 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1812C>T (p.Asn604=) single nucleotide variant Fanconi anemia [RCV002184438]|Hereditary cancer-predisposing syndrome [RCV002258393]|Inborn genetic diseases [RCV004973357]|not specified [RCV003151390] Chr14:45166973 [GRCh38]
Chr14:45636176 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.5001T>A (p.Ile1667=) single nucleotide variant Fanconi anemia [RCV002201816] Chr14:45189023 [GRCh38]
Chr14:45658226 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.244C>T (p.Leu82=) single nucleotide variant Fanconi anemia [RCV002103576] Chr14:45136275 [GRCh38]
Chr14:45605478 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5628T>C (p.Asn1876=) single nucleotide variant Fanconi anemia [RCV002159645]|Inborn genetic diseases [RCV004976212]|not provided [RCV003395368] Chr14:45196459 [GRCh38]
Chr14:45665662 [GRCh37]
Chr14:14q21.2		 likely benign
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_020937.4(FANCM):c.3963A>G (p.Leu1321=) single nucleotide variant Fanconi anemia [RCV002179886] Chr14:45176717 [GRCh38]
Chr14:45645920 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3405G>T (p.Leu1135=) single nucleotide variant Fanconi anemia [RCV002120598]|Inborn genetic diseases [RCV004973333]|not provided [RCV003478943] Chr14:45176159 [GRCh38]
Chr14:45645362 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2037C>T (p.Phe679=) single nucleotide variant Fanconi anemia [RCV002099063] Chr14:45170623 [GRCh38]
Chr14:45639826 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.682-7del deletion Fanconi anemia [RCV002136892]|Spermatogenic failure 28 [RCV002486904] Chr14:45140617 [GRCh38]
Chr14:45609820 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.1701A>C (p.Pro567=) single nucleotide variant Fanconi anemia [RCV002203092] Chr14:45164478 [GRCh38]
Chr14:45633681 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1782G>A (p.Glu594=) single nucleotide variant Fanconi anemia [RCV002216647] Chr14:45164559 [GRCh38]
Chr14:45633762 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1911A>G (p.Leu637=) single nucleotide variant Fanconi anemia [RCV002159335] Chr14:45167072 [GRCh38]
Chr14:45636275 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.768A>G (p.Gln256=) single nucleotide variant Fanconi anemia [RCV002123284] Chr14:45148845 [GRCh38]
Chr14:45618048 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5037T>C (p.Asn1679=) single nucleotide variant Fanconi anemia [RCV002161845] Chr14:45189059 [GRCh38]
Chr14:45658262 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1452A>T (p.Ser484=) single nucleotide variant Fanconi anemia [RCV002179583] Chr14:45159151 [GRCh38]
Chr14:45628354 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5341-18T>C single nucleotide variant Fanconi anemia [RCV002181436] Chr14:45196154 [GRCh38]
Chr14:45665357 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1397-16T>A single nucleotide variant Fanconi anemia [RCV002178021]|Spermatogenic failure 28 [RCV002498170]|not provided [RCV004704696] Chr14:45159080 [GRCh38]
Chr14:45628283 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3459C>T (p.Asn1153=) single nucleotide variant Fanconi anemia [RCV002101105] Chr14:45176213 [GRCh38]
Chr14:45645416 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.51C>T (p.Ser17=) single nucleotide variant Fanconi anemia [RCV002181986] Chr14:45136082 [GRCh38]
Chr14:45605285 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4222+18dup duplication Fanconi anemia [RCV002136847]|Spermatogenic failure 28 [RCV002494292] Chr14:45176993..45176994 [GRCh38]
Chr14:45646196..45646197 [GRCh37]
Chr14:14q21.2		 benign|likely benign
NM_020937.4(FANCM):c.2642A>G (p.Asp881Gly) single nucleotide variant Fanconi anemia [RCV003110833]|not provided [RCV003317658] Chr14:45175396 [GRCh38]
Chr14:45644599 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.760-9T>A single nucleotide variant not provided [RCV003109879] Chr14:45148828 [GRCh38]
Chr14:45618031 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3982T>G (p.Phe1328Val) single nucleotide variant not provided [RCV003110028] Chr14:45176736 [GRCh38]
Chr14:45645939 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1433G>C (p.Arg478Pro) single nucleotide variant not provided [RCV003110037] Chr14:45159132 [GRCh38]
Chr14:45628335 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45639782)_(45669211_?)del deletion Fanconi anemia [RCV003109782] Chr14:45639782..45669211 [GRCh37]
Chr14:14q21.2		 pathogenic
NC_000014.8:g.(?_45654410)_(45657100_?)del deletion Fanconi anemia [RCV003109783] Chr14:45654410..45657100 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45618020)_(45669211_?)del deletion Fanconi anemia [RCV003109784] Chr14:45618020..45669211 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NC_000014.8:g.(?_44820816)_(45645917_?)del deletion Fanconi anemia [RCV003109785] Chr14:44820816..45645917 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5770_5772del (p.Thr1924del) deletion not provided [RCV003110093] Chr14:45198697..45198699 [GRCh38]
Chr14:45667900..45667902 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3026A>G (p.Tyr1009Cys) single nucleotide variant not provided [RCV003110094] Chr14:45175780 [GRCh38]
Chr14:45644983 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4318-7_4318-4del microsatellite Fanconi anemia [RCV003110295] Chr14:45181624..45181627 [GRCh38]
Chr14:45650827..45650830 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3102C>G (p.Cys1034Trp) single nucleotide variant Fanconi anemia [RCV003110306]|Inborn genetic diseases [RCV003269527]|not provided [RCV004779484] Chr14:45175856 [GRCh38]
Chr14:45645059 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.798G>C (p.Gln266His) single nucleotide variant not provided [RCV004776577] Chr14:45148875 [GRCh38]
Chr14:45618078 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4719G>A (p.Met1573Ile) single nucleotide variant not provided [RCV004776679] Chr14:45187827 [GRCh38]
Chr14:45657030 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1690C>A (p.Gln564Lys) single nucleotide variant Fanconi anemia [RCV003114128] Chr14:45164467 [GRCh38]
Chr14:45633670 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4643A>G (p.Asp1548Gly) single nucleotide variant Fanconi anemia [RCV003111977] Chr14:45185344 [GRCh38]
Chr14:45654547 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.424C>A (p.Pro142Thr) single nucleotide variant Fanconi anemia [RCV003112674]|not provided [RCV003225260] Chr14:45136455 [GRCh38]
Chr14:45605658 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4709G>T (p.Arg1570Leu) single nucleotide variant Fanconi anemia [RCV003116226] Chr14:45187817 [GRCh38]
Chr14:45657020 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5121A>G (p.Ser1707=) single nucleotide variant Fanconi anemia [RCV003115042] Chr14:45189143 [GRCh38]
Chr14:45658346 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4425C>G (p.Pro1475=) single nucleotide variant Fanconi anemia [RCV003115696] Chr14:45183812 [GRCh38]
Chr14:45653015 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2320G>A (p.Glu774Lys) single nucleotide variant not provided [RCV004784261] Chr14:45175074 [GRCh38]
Chr14:45644277 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter) single nucleotide variant Fanconi anemia [RCV003121287] Chr14:45153992 [GRCh38]
Chr14:45623195 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5345G>A (p.Gly1782Asp) single nucleotide variant not provided [RCV003120421] Chr14:45196176 [GRCh38]
Chr14:45665379 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2323T>A (p.Cys775Ser) single nucleotide variant Fanconi anemia [RCV003120095] Chr14:45175077 [GRCh38]
Chr14:45644280 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4779+10A>T single nucleotide variant Fanconi anemia [RCV003121159] Chr14:45187897 [GRCh38]
Chr14:45657100 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.973G>A (p.Asp325Asn) single nucleotide variant not provided [RCV004778377] Chr14:45151451 [GRCh38]
Chr14:45620654 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5140G>C (p.Ala1714Pro) single nucleotide variant not provided [RCV004778384] Chr14:45189162 [GRCh38]
Chr14:45658365 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5285C>A (p.Pro1762His) single nucleotide variant not provided [RCV003149171] Chr14:45189307 [GRCh38]
Chr14:45658510 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1919T>C (p.Met640Thr) single nucleotide variant Inborn genetic diseases [RCV004617023]|not specified [RCV002247821] Chr14:45167080 [GRCh38]
Chr14:45636283 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5393C>T (p.Ser1798Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256974] Chr14:45196224 [GRCh38]
Chr14:45665427 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.412G>A (p.Val138Ile) single nucleotide variant not specified [RCV002247818] Chr14:45136443 [GRCh38]
Chr14:45605646 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2582T>G (p.Ile861Arg) single nucleotide variant not specified [RCV002248167] Chr14:45175336 [GRCh38]
Chr14:45644539 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.3846A>G (p.Pro1282=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256973] Chr14:45176600 [GRCh38]
Chr14:45645803 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.215A>G (p.Asn72Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258406] Chr14:45136246 [GRCh38]
Chr14:45605449 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4597G>A (p.Glu1533Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259175]|Spermatogenic failure 28 [RCV005008495]|not provided [RCV004774639] Chr14:45185298 [GRCh38]
Chr14:45654501 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3426A>G (p.Thr1142=) single nucleotide variant Fanconi anemia [RCV003774761]|Hereditary cancer-predisposing syndrome [RCV002258409] Chr14:45176180 [GRCh38]
Chr14:45645383 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6009-13A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258412] Chr14:45199857 [GRCh38]
Chr14:45669060 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3073T>C (p.Cys1025Arg) single nucleotide variant not provided [RCV003237088] Chr14:45175827 [GRCh38]
Chr14:45645030 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5965A>C (p.Asn1989His) single nucleotide variant Fanconi anemia [RCV003523151]|not provided [RCV003233225] Chr14:45198892 [GRCh38]
Chr14:45668095 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5126C>T (p.Pro1709Leu) single nucleotide variant not provided [RCV003230138] Chr14:45189148 [GRCh38]
Chr14:45658351 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2140C>A (p.Gln714Lys) single nucleotide variant not provided [RCV002269754] Chr14:45170726 [GRCh38]
Chr14:45639929 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.760-8T>A single nucleotide variant not provided [RCV002287054] Chr14:45148829 [GRCh38]
Chr14:45618032 [GRCh37]
Chr14:14q21.2		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_020937.4(FANCM):c.4387T>C (p.Ser1463Pro) single nucleotide variant not provided [RCV002274548] Chr14:45183774 [GRCh38]
Chr14:45652977 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2657T>C (p.Val886Ala) single nucleotide variant not provided [RCV002269790] Chr14:45175411 [GRCh38]
Chr14:45644614 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1789-13T>G single nucleotide variant not provided [RCV002293709] Chr14:45166937 [GRCh38]
Chr14:45636140 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.583G>A (p.Val195Ile) single nucleotide variant Fanconi anemia [RCV003097703]|not provided [RCV002286165] Chr14:45137143 [GRCh38]
Chr14:45606346 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.404_405dup (p.Lys136fs) duplication not provided [RCV002273368] Chr14:45136434..45136435 [GRCh38]
Chr14:45605637..45605638 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.1435G>A (p.Val479Ile) single nucleotide variant Inborn genetic diseases [RCV003295624]|not provided [RCV003325624] Chr14:45159134 [GRCh38]
Chr14:45628337 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1155C>T (p.Phe385=) single nucleotide variant Fanconi anemia [RCV003636007]|not provided [RCV003233158] Chr14:45154024 [GRCh38]
Chr14:45623227 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5176C>A (p.Pro1726Thr) single nucleotide variant not provided [RCV002292074] Chr14:45189198 [GRCh38]
Chr14:45658401 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5563T>A (p.Tyr1855Asn) single nucleotide variant not provided [RCV002290907] Chr14:45196394 [GRCh38]
Chr14:45665597 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3895A>G (p.Asn1299Asp) single nucleotide variant not provided [RCV002283219] Chr14:45176649 [GRCh38]
Chr14:45645852 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2990C>A (p.Ser997Tyr) single nucleotide variant Fanconi anemia [RCV002297034] Chr14:45175744 [GRCh38]
Chr14:45644947 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3459_3464del (p.Asn1153_Ser1154del) deletion not provided [RCV003149188] Chr14:45176211..45176216 [GRCh38]
Chr14:45645414..45645419 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6081C>G (p.His2027Gln) single nucleotide variant not provided [RCV003156595] Chr14:45199942 [GRCh38]
Chr14:45669145 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1192C>G (p.Arg398Gly) single nucleotide variant not provided [RCV003156646] Chr14:45154705 [GRCh38]
Chr14:45623908 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.817G>A (p.Asp273Asn) single nucleotide variant not provided [RCV003149402] Chr14:45148894 [GRCh38]
Chr14:45618097 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5783C>A (p.Ala1928Asp) single nucleotide variant Fanconi anemia [RCV002303071] Chr14:45198710 [GRCh38]
Chr14:45667913 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5024A>C (p.Glu1675Ala) single nucleotide variant not provided [RCV004588665] Chr14:45189046 [GRCh38]
Chr14:45658249 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5600C>T (p.Ser1867Phe) single nucleotide variant Fanconi anemia [RCV002303293] Chr14:45196431 [GRCh38]
Chr14:45665634 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5731A>G (p.Met1911Val) single nucleotide variant not provided [RCV003149473] Chr14:45198658 [GRCh38]
Chr14:45667861 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1147T>C (p.Tyr383His) single nucleotide variant not provided [RCV003235816] Chr14:45154016 [GRCh38]
Chr14:45623219 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5452A>G (p.Thr1818Ala) single nucleotide variant Fanconi anemia [RCV002304655]|Inborn genetic diseases [RCV003308108] Chr14:45196283 [GRCh38]
Chr14:45665486 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5149A>C (p.Lys1717Gln) single nucleotide variant Fanconi anemia [RCV002304899] Chr14:45189171 [GRCh38]
Chr14:45658374 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5692G>T (p.Val1898Leu) single nucleotide variant Fanconi anemia [RCV002295467] Chr14:45196523 [GRCh38]
Chr14:45665726 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5249C>T (p.Pro1750Leu) single nucleotide variant Fanconi anemia [RCV003775006]|not provided [RCV002305974] Chr14:45189271 [GRCh38]
Chr14:45658474 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4383C>G (p.Asn1461Lys) single nucleotide variant Fanconi anemia [RCV002295858] Chr14:45181702 [GRCh38]
Chr14:45650905 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5667T>G (p.Ser1889Arg) single nucleotide variant Fanconi anemia [RCV002295399]|Inborn genetic diseases [RCV004973411] Chr14:45196498 [GRCh38]
Chr14:45665701 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3380C>G (p.Ser1127Cys) single nucleotide variant not provided [RCV002300997] Chr14:45176134 [GRCh38]
Chr14:45645337 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3134C>T (p.Ser1045Phe) single nucleotide variant Fanconi anemia [RCV003013175] Chr14:45175888 [GRCh38]
Chr14:45645091 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5044G>C (p.Asp1682His) single nucleotide variant Fanconi anemia [RCV002774885] Chr14:45189066 [GRCh38]
Chr14:45658269 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1810A>G (p.Asn604Asp) single nucleotide variant Fanconi anemia [RCV003074103]|not provided [RCV004775282] Chr14:45166971 [GRCh38]
Chr14:45636174 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.14A>G (p.Gln5Arg) single nucleotide variant Fanconi anemia [RCV002775399] Chr14:45136045 [GRCh38]
Chr14:45605248 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2203G>C (p.Glu735Gln) single nucleotide variant Fanconi anemia [RCV002616450] Chr14:45173097 [GRCh38]
Chr14:45642300 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1097G>A (p.Ser366Asn) single nucleotide variant FANCM-related disorder [RCV004536498]|Fanconi anemia [RCV002972120] Chr14:45153966 [GRCh38]
Chr14:45623169 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4568C>A (p.Ala1523Glu) single nucleotide variant Fanconi anemia [RCV002995596] Chr14:45185269 [GRCh38]
Chr14:45654472 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2603A>T (p.Lys868Ile) single nucleotide variant Fanconi anemia [RCV003075263] Chr14:45175357 [GRCh38]
Chr14:45644560 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.567_568insGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGCAGACGGGAGAGGGAGAGGGAGACGGGAGCTTTTTTTGAGAGTGCTTTTTCTT (p.Thr190fs) microsatellite Fanconi anemia [RCV002838348] Chr14:45137111..45137112 [GRCh38]
Chr14:45606314..45606315 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.682-21_682-20delinsTG indel Fanconi anemia [RCV002972188] Chr14:45140611..45140612 [GRCh38]
Chr14:45609814..45609815 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2316+4G>C single nucleotide variant Fanconi anemia [RCV002881623] Chr14:45173214 [GRCh38]
Chr14:45642417 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3606A>G (p.Lys1202=) single nucleotide variant Fanconi anemia [RCV002771396] Chr14:45176360 [GRCh38]
Chr14:45645563 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4603G>C (p.Glu1535Gln) single nucleotide variant Fanconi anemia [RCV002903115] Chr14:45185304 [GRCh38]
Chr14:45654507 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.791T>C (p.Ile264Thr) single nucleotide variant Inborn genetic diseases [RCV003103113]|not provided [RCV002461792] Chr14:45148868 [GRCh38]
Chr14:45618071 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5453C>T (p.Thr1818Ile) single nucleotide variant Fanconi anemia [RCV002613553] Chr14:45196284 [GRCh38]
Chr14:45665487 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4515+4A>G single nucleotide variant Fanconi anemia [RCV002843617] Chr14:45183906 [GRCh38]
Chr14:45653109 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4665T>C (p.Ala1555=) single nucleotide variant Fanconi anemia [RCV002755887] Chr14:45185366 [GRCh38]
Chr14:45654569 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.958G>A (p.Val320Ile) single nucleotide variant Fanconi anemia [RCV003075959] Chr14:45151436 [GRCh38]
Chr14:45620639 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3440T>G (p.Val1147Gly) single nucleotide variant Fanconi anemia [RCV002994758] Chr14:45176194 [GRCh38]
Chr14:45645397 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5034C>A (p.Asn1678Lys) single nucleotide variant Fanconi anemia [RCV002755575] Chr14:45189056 [GRCh38]
Chr14:45658259 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2423C>A (p.Thr808Asn) single nucleotide variant Fanconi anemia [RCV002882239] Chr14:45175177 [GRCh38]
Chr14:45644380 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1165del (p.Ile389fs) deletion Fanconi anemia [RCV002866093] Chr14:45154033 [GRCh38]
Chr14:45623236 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3221T>C (p.Ile1074Thr) single nucleotide variant Fanconi anemia [RCV003523140]|Inborn genetic diseases [RCV002728426]|not provided [RCV004725585] Chr14:45175975 [GRCh38]
Chr14:45645178 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3453C>T (p.Pro1151=) single nucleotide variant Fanconi anemia [RCV002618758] Chr14:45176207 [GRCh38]
Chr14:45645410 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4290A>C (p.Ala1430=) single nucleotide variant Fanconi anemia [RCV002819953] Chr14:45181497 [GRCh38]
Chr14:45650700 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3227A>G (p.Asp1076Gly) single nucleotide variant Fanconi anemia [RCV003076177] Chr14:45175981 [GRCh38]
Chr14:45645184 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.202T>C (p.Leu68=) single nucleotide variant Fanconi anemia [RCV002882161] Chr14:45136233 [GRCh38]
Chr14:45605436 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2442A>G (p.Lys814=) single nucleotide variant Fanconi anemia [RCV003013756] Chr14:45175196 [GRCh38]
Chr14:45644399 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5270A>G (p.Gln1757Arg) single nucleotide variant FANCM-related disorder [RCV004536563]|Fanconi anemia [RCV003074490] Chr14:45189292 [GRCh38]
Chr14:45658495 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1064G>A (p.Gly355Asp) single nucleotide variant not provided [RCV002511225] Chr14:45153933 [GRCh38]
Chr14:45623136 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.845A>C (p.His282Pro) single nucleotide variant Fanconi anemia [RCV002617201] Chr14:45148922 [GRCh38]
Chr14:45618125 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3871A>G (p.Ser1291Gly) single nucleotide variant Fanconi anemia [RCV002776166] Chr14:45176625 [GRCh38]
Chr14:45645828 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4223-16A>T single nucleotide variant Fanconi anemia [RCV002967919] Chr14:45181414 [GRCh38]
Chr14:45650617 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4281_4287del (p.Lys1428fs) deletion Fanconi anemia [RCV002881224] Chr14:45181488..45181494 [GRCh38]
Chr14:45650691..45650697 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.457G>C (p.Ala153Pro) single nucleotide variant Fanconi anemia [RCV002971016] Chr14:45136488 [GRCh38]
Chr14:45605691 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2161-7A>G single nucleotide variant Fanconi anemia [RCV002862071] Chr14:45173048 [GRCh38]
Chr14:45642251 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.444A>T (p.Thr148=) single nucleotide variant Fanconi anemia [RCV003075242] Chr14:45136475 [GRCh38]
Chr14:45605678 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4318-16dup duplication Fanconi anemia [RCV003032939] Chr14:45181618..45181619 [GRCh38]
Chr14:45650821..45650822 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3327T>A (p.Asn1109Lys) single nucleotide variant Fanconi anemia [RCV002750301]|Inborn genetic diseases [RCV004973587] Chr14:45176081 [GRCh38]
Chr14:45645284 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4527G>A (p.Arg1509=) single nucleotide variant Fanconi anemia [RCV002903879] Chr14:45185228 [GRCh38]
Chr14:45654431 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4318-2A>G single nucleotide variant Fanconi anemia [RCV002857859] Chr14:45181635 [GRCh38]
Chr14:45650838 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4562A>T (p.Glu1521Val) single nucleotide variant Fanconi anemia [RCV002907696] Chr14:45185263 [GRCh38]
Chr14:45654466 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4045T>A (p.Ser1349Thr) single nucleotide variant Fanconi anemia [RCV002842294] Chr14:45176799 [GRCh38]
Chr14:45646002 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5568C>G (p.Ile1856Met) single nucleotide variant Fanconi anemia [RCV003075668] Chr14:45196399 [GRCh38]
Chr14:45665602 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4073T>C (p.Leu1358Pro) single nucleotide variant Fanconi anemia [RCV002995222] Chr14:45176827 [GRCh38]
Chr14:45646030 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4308C>T (p.Asn1436=) single nucleotide variant FANCM-related disorder [RCV004536554]|Fanconi anemia [RCV003076336]|Inborn genetic diseases [RCV004978514] Chr14:45181515 [GRCh38]
Chr14:45650718 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1028A>G (p.Lys343Arg) single nucleotide variant Fanconi anemia [RCV002882263] Chr14:45151506 [GRCh38]
Chr14:45620709 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5444G>A (p.Gly1815Glu) single nucleotide variant Fanconi anemia [RCV003032692] Chr14:45196275 [GRCh38]
Chr14:45665478 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3886A>G (p.Ile1296Val) single nucleotide variant Inborn genetic diseases [RCV002864949] Chr14:45176640 [GRCh38]
Chr14:45645843 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3677A>T (p.Asp1226Val) single nucleotide variant Inborn genetic diseases [RCV003103139]|not provided [RCV002462619] Chr14:45176431 [GRCh38]
Chr14:45645634 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.546C>T (p.Cys182=) single nucleotide variant Fanconi anemia [RCV002776061] Chr14:45137106 [GRCh38]
Chr14:45606309 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5456G>A (p.Cys1819Tyr) single nucleotide variant Fanconi anemia [RCV002880935] Chr14:45196287 [GRCh38]
Chr14:45665490 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3405G>A (p.Leu1135=) single nucleotide variant Fanconi anemia [RCV002908458] Chr14:45176159 [GRCh38]
Chr14:45645362 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3490A>C (p.Lys1164Gln) single nucleotide variant not provided [RCV004765760]|not specified [RCV003151523] Chr14:45176244 [GRCh38]
Chr14:45645447 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6009-8T>C single nucleotide variant Fanconi anemia [RCV002904866] Chr14:45199862 [GRCh38]
Chr14:45669065 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2539C>A (p.Pro847Thr) single nucleotide variant Fanconi anemia [RCV002819053] Chr14:45175293 [GRCh38]
Chr14:45644496 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5913G>A (p.Glu1971=) single nucleotide variant not provided [RCV002481091] Chr14:45198840 [GRCh38]
Chr14:45668043 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2481C>T (p.Ser827=) single nucleotide variant not provided [RCV002481137] Chr14:45175235 [GRCh38]
Chr14:45644438 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3564T>G (p.Ser1188=) single nucleotide variant not provided [RCV002481138] Chr14:45176318 [GRCh38]
Chr14:45645521 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4017A>G (p.Thr1339=) single nucleotide variant Fanconi anemia [RCV002862289] Chr14:45176771 [GRCh38]
Chr14:45645974 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.754A>C (p.Ile252Leu) single nucleotide variant not provided [RCV002461612] Chr14:45140704 [GRCh38]
Chr14:45609907 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.759+19dup duplication Fanconi anemia [RCV002994642] Chr14:45140726..45140727 [GRCh38]
Chr14:45609929..45609930 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2884C>G (p.Pro962Ala) single nucleotide variant not provided [RCV002461797] Chr14:45175638 [GRCh38]
Chr14:45644841 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.78C>T (p.Ser26=) single nucleotide variant Fanconi anemia [RCV002640363]|Inborn genetic diseases [RCV004978722] Chr14:45136109 [GRCh38]
Chr14:45605312 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3995T>C (p.Val1332Ala) single nucleotide variant Fanconi anemia [RCV002640613] Chr14:45176749 [GRCh38]
Chr14:45645952 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.438G>A (p.Leu146=) single nucleotide variant Fanconi anemia [RCV002953807]|not provided [RCV004999842] Chr14:45136469 [GRCh38]
Chr14:45605672 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.5598G>T (p.Arg1866Ser) single nucleotide variant Fanconi anemia [RCV002976172]|Inborn genetic diseases [RCV004973790] Chr14:45196429 [GRCh38]
Chr14:45665632 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2796A>G (p.Lys932=) single nucleotide variant Fanconi anemia [RCV002761268] Chr14:45175550 [GRCh38]
Chr14:45644753 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3012C>A (p.Leu1004=) single nucleotide variant Fanconi anemia [RCV002913908] Chr14:45175766 [GRCh38]
Chr14:45644969 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3900A>C (p.Glu1300Asp) single nucleotide variant Fanconi anemia [RCV003055747] Chr14:45176654 [GRCh38]
Chr14:45645857 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4246G>A (p.Glu1416Lys) single nucleotide variant Fanconi anemia [RCV002912772] Chr14:45181453 [GRCh38]
Chr14:45650656 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3149A>T (p.Glu1050Val) single nucleotide variant Fanconi anemia [RCV003635995]|Inborn genetic diseases [RCV002757566] Chr14:45175903 [GRCh38]
Chr14:45645106 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6075T>G (p.Tyr2025Ter) single nucleotide variant Fanconi anemia [RCV002871241] Chr14:45199936 [GRCh38]
Chr14:45669139 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3478C>G (p.Pro1160Ala) single nucleotide variant Fanconi anemia [RCV002825188] Chr14:45176232 [GRCh38]
Chr14:45645435 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5199_5200del (p.Gln1733fs) deletion Fanconi anemia [RCV002914184] Chr14:45189220..45189221 [GRCh38]
Chr14:45658423..45658424 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3873T>C (p.Ser1291=) single nucleotide variant Fanconi anemia [RCV003001887] Chr14:45176627 [GRCh38]
Chr14:45645830 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.682-5T>C single nucleotide variant Inborn genetic diseases [RCV002708172] Chr14:45140627 [GRCh38]
Chr14:45609830 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1718G>A (p.Arg573Gln) single nucleotide variant Fanconi anemia [RCV002885934]|not provided [RCV004999821] Chr14:45164495 [GRCh38]
Chr14:45633698 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2340A>G (p.Glu780=) single nucleotide variant Fanconi anemia [RCV002690678] Chr14:45175094 [GRCh38]
Chr14:45644297 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.417C>T (p.Phe139=) single nucleotide variant Fanconi anemia [RCV002866496] Chr14:45136448 [GRCh38]
Chr14:45605651 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1536C>G (p.Ala512=) single nucleotide variant Fanconi anemia [RCV002999711] Chr14:45159235 [GRCh38]
Chr14:45628438 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1508_1515del (p.Ile503fs) deletion Fanconi anemia [RCV002866739] Chr14:45159205..45159212 [GRCh38]
Chr14:45628408..45628415 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5716+6T>C single nucleotide variant Fanconi anemia [RCV002636853] Chr14:45196553 [GRCh38]
Chr14:45665756 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4779+6A>T single nucleotide variant Fanconi anemia [RCV002590908] Chr14:45187893 [GRCh38]
Chr14:45657096 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.508+11C>T single nucleotide variant Fanconi anemia [RCV003053103] Chr14:45136550 [GRCh38]
Chr14:45605753 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.576G>A (p.Gln192=) single nucleotide variant Fanconi anemia [RCV003079652] Chr14:45137136 [GRCh38]
Chr14:45606339 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter) single nucleotide variant Fanconi anemia [RCV002797232] Chr14:45181501 [GRCh38]
Chr14:45650704 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5340+19A>G single nucleotide variant Fanconi anemia [RCV002637766] Chr14:45189381 [GRCh38]
Chr14:45658584 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2991T>G (p.Ser997=) single nucleotide variant Fanconi anemia [RCV002923361] Chr14:45175745 [GRCh38]
Chr14:45644948 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2455A>G (p.Lys819Glu) single nucleotide variant not provided [RCV002510141] Chr14:45175209 [GRCh38]
Chr14:45644412 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3780T>C (p.Tyr1260=) single nucleotide variant Fanconi anemia [RCV002979263] Chr14:45176534 [GRCh38]
Chr14:45645737 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.375G>A (p.Met125Ile) single nucleotide variant Fanconi anemia [RCV002885927] Chr14:45136406 [GRCh38]
Chr14:45605609 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.219C>G (p.Gly73=) single nucleotide variant Fanconi anemia [RCV002780407] Chr14:45136250 [GRCh38]
Chr14:45605453 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5402A>T (p.His1801Leu) single nucleotide variant Inborn genetic diseases [RCV002797622] Chr14:45196233 [GRCh38]
Chr14:45665436 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4821T>G (p.Cys1607Trp) single nucleotide variant Fanconi anemia [RCV002636888] Chr14:45188843 [GRCh38]
Chr14:45658046 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3489C>A (p.Asp1163Glu) single nucleotide variant Fanconi anemia [RCV002735629] Chr14:45176243 [GRCh38]
Chr14:45645446 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.261C>A (p.Thr87=) single nucleotide variant Fanconi anemia [RCV002734946] Chr14:45136292 [GRCh38]
Chr14:45605495 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6090T>C (p.Phe2030=) single nucleotide variant FANCM-related disorder [RCV004536447]|Fanconi anemia [RCV002886587] Chr14:45199951 [GRCh38]
Chr14:45669154 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3344A>G (p.Asn1115Ser) single nucleotide variant Fanconi anemia [RCV002735345] Chr14:45176098 [GRCh38]
Chr14:45645301 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4161T>C (p.Ser1387=) single nucleotide variant Fanconi anemia [RCV002592316]|Inborn genetic diseases [RCV004978661]|not provided [RCV003389917] Chr14:45176915 [GRCh38]
Chr14:45646118 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3857G>T (p.Ser1286Ile) single nucleotide variant Fanconi anemia [RCV002795243] Chr14:45176611 [GRCh38]
Chr14:45645814 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.918+17A>G single nucleotide variant Fanconi anemia [RCV003017980] Chr14:45149012 [GRCh38]
Chr14:45618215 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.157G>A (p.Asp53Asn) single nucleotide variant Fanconi anemia [RCV002638206] Chr14:45136188 [GRCh38]
Chr14:45605391 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1892A>T (p.Asp631Val) single nucleotide variant Fanconi anemia [RCV002952484]|not provided [RCV004774761] Chr14:45167053 [GRCh38]
Chr14:45636256 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2842A>G (p.Ser948Gly) single nucleotide variant Fanconi anemia [RCV002913534]|Inborn genetic diseases [RCV004973700] Chr14:45175596 [GRCh38]
Chr14:45644799 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1397-1_1407del deletion Fanconi anemia [RCV002923612]|not provided [RCV004999840] Chr14:45159095..45159106 [GRCh38]
Chr14:45628298..45628309 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4725C>G (p.Asn1575Lys) single nucleotide variant Fanconi anemia [RCV003020676] Chr14:45187833 [GRCh38]
Chr14:45657036 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3166T>G (p.Cys1056Gly) single nucleotide variant Fanconi anemia [RCV002824735] Chr14:45175920 [GRCh38]
Chr14:45645123 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1051-8T>C single nucleotide variant Fanconi anemia [RCV002871005] Chr14:45153912 [GRCh38]
Chr14:45623115 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5532A>T (p.Gln1844His) single nucleotide variant Fanconi anemia [RCV002846558] Chr14:45196363 [GRCh38]
Chr14:45665566 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.681+16A>G single nucleotide variant Fanconi anemia [RCV002591941] Chr14:45137257 [GRCh38]
Chr14:45606460 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter) single nucleotide variant Fanconi anemia [RCV002949008] Chr14:45175890 [GRCh38]
Chr14:45645093 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5424T>C (p.Ser1808=) single nucleotide variant Fanconi anemia [RCV003100510] Chr14:45196255 [GRCh38]
Chr14:45665458 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4325A>T (p.Lys1442Ile) single nucleotide variant Inborn genetic diseases [RCV002781924] Chr14:45181644 [GRCh38]
Chr14:45650847 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5888C>A (p.Thr1963Lys) single nucleotide variant Fanconi anemia [RCV003635996]|Inborn genetic diseases [RCV002868746] Chr14:45198815 [GRCh38]
Chr14:45668018 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2238A>G (p.Thr746=) single nucleotide variant Fanconi anemia [RCV002626131] Chr14:45173132 [GRCh38]
Chr14:45642335 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4317+8_4317+16dup duplication Fanconi anemia [RCV003025507] Chr14:45181531..45181532 [GRCh38]
Chr14:45650734..45650735 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter) single nucleotide variant Fanconi anemia [RCV002624544] Chr14:45189291 [GRCh38]
Chr14:45658494 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5539G>T (p.Val1847Phe) single nucleotide variant Fanconi anemia [RCV003041335] Chr14:45196370 [GRCh38]
Chr14:45665573 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5652C>A (p.Ile1884=) single nucleotide variant Fanconi anemia [RCV002829948] Chr14:45196483 [GRCh38]
Chr14:45665686 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6075T>A (p.Tyr2025Ter) single nucleotide variant Fanconi anemia [RCV002871841] Chr14:45199936 [GRCh38]
Chr14:45669139 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.251T>G (p.Ile84Ser) single nucleotide variant Fanconi anemia [RCV002918905]|not provided [RCV004774759] Chr14:45136282 [GRCh38]
Chr14:45605485 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2475T>C (p.Ser825=) single nucleotide variant Fanconi anemia [RCV003058676] Chr14:45175229 [GRCh38]
Chr14:45644432 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4591A>G (p.Asn1531Asp) single nucleotide variant Fanconi anemia [RCV002982732] Chr14:45185292 [GRCh38]
Chr14:45654495 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1421G>A (p.Arg474His) single nucleotide variant Fanconi anemia [RCV002895161] Chr14:45159120 [GRCh38]
Chr14:45628323 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2817A>C (p.Gly939=) single nucleotide variant Fanconi anemia [RCV002957966] Chr14:45175571 [GRCh38]
Chr14:45644774 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1183+10A>G single nucleotide variant Fanconi anemia [RCV002575926] Chr14:45154062 [GRCh38]
Chr14:45623265 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4805T>C (p.Leu1602Ser) single nucleotide variant Fanconi anemia [RCV003084900] Chr14:45188827 [GRCh38]
Chr14:45658030 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1185G>T (p.Gly395=) single nucleotide variant Fanconi anemia [RCV002876640] Chr14:45154698 [GRCh38]
Chr14:45623901 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3103A>T (p.Thr1035Ser) single nucleotide variant Fanconi anemia [RCV003025773]|not provided [RCV003443105] Chr14:45175857 [GRCh38]
Chr14:45645060 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.639T>C (p.Ile213=) single nucleotide variant FANCM-related disorder [RCV004540525]|Fanconi anemia [RCV003083283] Chr14:45137199 [GRCh38]
Chr14:45606402 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.903A>G (p.Gln301=) single nucleotide variant Fanconi anemia [RCV002644364] Chr14:45148980 [GRCh38]
Chr14:45618183 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2260C>T (p.Arg754Ter) single nucleotide variant Fanconi anemia [RCV002595280]|not provided [RCV003318742] Chr14:45173154 [GRCh38]
Chr14:45642357 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.1880G>T (p.Arg627Leu) single nucleotide variant Inborn genetic diseases [RCV002955129] Chr14:45167041 [GRCh38]
Chr14:45636244 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1747G>A (p.Gly583Ser) single nucleotide variant Fanconi anemia [RCV002575569] Chr14:45164524 [GRCh38]
Chr14:45633727 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2380T>C (p.Phe794Leu) single nucleotide variant FANCM-related disorder [RCV004529207]|Fanconi anemia [RCV003082511] Chr14:45175134 [GRCh38]
Chr14:45644337 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2979T>G (p.Phe993Leu) single nucleotide variant Fanconi anemia [RCV003006107] Chr14:45175733 [GRCh38]
Chr14:45644936 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5260A>T (p.Asn1754Tyr) single nucleotide variant Fanconi anemia [RCV003008060] Chr14:45189282 [GRCh38]
Chr14:45658485 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5881G>A (p.Val1961Ile) single nucleotide variant not provided [RCV002508660] Chr14:45198808 [GRCh38]
Chr14:45668011 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1214G>A (p.Arg405Gln) single nucleotide variant Fanconi anemia [RCV002766394]|Inborn genetic diseases [RCV004973597]|not provided [RCV004774727] Chr14:45154727 [GRCh38]
Chr14:45623930 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4825G>A (p.Asp1609Asn) single nucleotide variant Fanconi anemia [RCV002918033] Chr14:45188847 [GRCh38]
Chr14:45658050 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5843T>A (p.Leu1948Gln) single nucleotide variant Fanconi anemia [RCV002594281] Chr14:45198770 [GRCh38]
Chr14:45667973 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2225A>G (p.His742Arg) single nucleotide variant Fanconi anemia [RCV002890239] Chr14:45173119 [GRCh38]
Chr14:45642322 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5449G>A (p.Gly1817Arg) single nucleotide variant Fanconi anemia [RCV002766434] Chr14:45196280 [GRCh38]
Chr14:45665483 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1197A>G (p.Ser399=) single nucleotide variant Fanconi anemia [RCV003022360] Chr14:45154710 [GRCh38]
Chr14:45623913 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5313C>A (p.Asp1771Glu) single nucleotide variant Fanconi anemia [RCV002851109] Chr14:45189335 [GRCh38]
Chr14:45658538 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4552_4553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1517_Leu1518insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu) insertion Fanconi anemia [RCV003635993]|not provided [RCV002508580] Chr14:45185236..45185237 [GRCh38]
Chr14:45654439..45654440 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2148G>A (p.Glu716=) single nucleotide variant Fanconi anemia [RCV002663431]|Inborn genetic diseases [RCV004973553] Chr14:45170734 [GRCh38]
Chr14:45639937 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1221A>G (p.Glu407=) single nucleotide variant Fanconi anemia [RCV002954109] Chr14:45154734 [GRCh38]
Chr14:45623937 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.526A>C (p.Thr176Pro) single nucleotide variant Fanconi anemia [RCV003056855] Chr14:45137086 [GRCh38]
Chr14:45606289 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1397-14A>G single nucleotide variant Fanconi anemia [RCV003083984] Chr14:45159082 [GRCh38]
Chr14:45628285 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4640A>G (p.Asn1547Ser) single nucleotide variant Inborn genetic diseases [RCV002915949] Chr14:45185341 [GRCh38]
Chr14:45654544 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5367C>T (p.Ser1789=) single nucleotide variant Fanconi anemia [RCV002876433] Chr14:45196198 [GRCh38]
Chr14:45665401 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5608G>A (p.Glu1870Lys) single nucleotide variant Fanconi anemia [RCV003055910] Chr14:45196439 [GRCh38]
Chr14:45665642 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.180G>A (p.Ala60=) single nucleotide variant Fanconi anemia [RCV003084209] Chr14:45136211 [GRCh38]
Chr14:45605414 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4654C>A (p.Leu1552Ile) single nucleotide variant Fanconi anemia [RCV003083027] Chr14:45185355 [GRCh38]
Chr14:45654558 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.919-19A>G single nucleotide variant Fanconi anemia [RCV002625224] Chr14:45151378 [GRCh38]
Chr14:45620581 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2393G>A (p.Arg798Lys) single nucleotide variant Inborn genetic diseases [RCV002930346] Chr14:45175147 [GRCh38]
Chr14:45644350 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5781C>T (p.Gly1927=) single nucleotide variant Fanconi anemia [RCV002918118]|Inborn genetic diseases [RCV004973698] Chr14:45198708 [GRCh38]
Chr14:45667911 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1506_1507insTA (p.Ile503Ter) insertion Fanconi anemia [RCV002596873] Chr14:45159205..45159206 [GRCh38]
Chr14:45628408..45628409 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1851G>A (p.Gln617=) single nucleotide variant Fanconi anemia [RCV002919245] Chr14:45167012 [GRCh38]
Chr14:45636215 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.915C>T (p.Ile305=) single nucleotide variant Fanconi anemia [RCV002667821] Chr14:45148992 [GRCh38]
Chr14:45618195 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3546T>G (p.Leu1182=) single nucleotide variant Fanconi anemia [RCV002917877] Chr14:45176300 [GRCh38]
Chr14:45645503 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.411G>T (p.Val137=) single nucleotide variant Fanconi anemia [RCV002667126] Chr14:45136442 [GRCh38]
Chr14:45605645 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4386+16G>C single nucleotide variant Fanconi anemia [RCV002919057] Chr14:45181721 [GRCh38]
Chr14:45650924 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2164C>G (p.Gln722Glu) single nucleotide variant Fanconi anemia [RCV002627040] Chr14:45173058 [GRCh38]
Chr14:45642261 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2104_2105delinsAG (p.Glu702Arg) indel Fanconi anemia [RCV002829928] Chr14:45170690..45170691 [GRCh38]
Chr14:45639893..45639894 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.790A>G (p.Ile264Val) single nucleotide variant Fanconi anemia [RCV002625617] Chr14:45148867 [GRCh38]
Chr14:45618070 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2563A>G (p.Lys855Glu) single nucleotide variant Fanconi anemia [RCV003082909] Chr14:45175317 [GRCh38]
Chr14:45644520 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4567G>A (p.Ala1523Thr) single nucleotide variant not provided [RCV002508547] Chr14:45185268 [GRCh38]
Chr14:45654471 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1701A>T (p.Pro567=) single nucleotide variant Fanconi anemia [RCV002851253] Chr14:45164478 [GRCh38]
Chr14:45633681 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5864A>T (p.Lys1955Met) single nucleotide variant Fanconi anemia [RCV002644229]|not provided [RCV004999884] Chr14:45198791 [GRCh38]
Chr14:45667994 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3577C>A (p.Gln1193Lys) single nucleotide variant Inborn genetic diseases [RCV002804053] Chr14:45176331 [GRCh38]
Chr14:45645534 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1944A>G (p.Glu648=) single nucleotide variant Fanconi anemia [RCV003055954] Chr14:45167105 [GRCh38]
Chr14:45636308 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3710G>T (p.Cys1237Phe) single nucleotide variant not provided [RCV002508548] Chr14:45176464 [GRCh38]
Chr14:45645667 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.455A>C (p.Glu152Ala) single nucleotide variant not provided [RCV002508608] Chr14:45136486 [GRCh38]
Chr14:45605689 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2377A>G (p.Thr793Ala) single nucleotide variant Fanconi anemia [RCV002917253]|Inborn genetic diseases [RCV004973690] Chr14:45175131 [GRCh38]
Chr14:45644334 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2908G>A (p.Val970Ile) single nucleotide variant Fanconi anemia [RCV003084304]|Inborn genetic diseases [RCV004978586] Chr14:45175662 [GRCh38]
Chr14:45644865 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.427A>G (p.Thr143Ala) single nucleotide variant Fanconi anemia [RCV003084732]|not provided [RCV003477048] Chr14:45136458 [GRCh38]
Chr14:45605661 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4145A>T (p.Asp1382Val) single nucleotide variant Fanconi anemia [RCV002985333] Chr14:45176899 [GRCh38]
Chr14:45646102 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1189A>G (p.Thr397Ala) single nucleotide variant Fanconi anemia [RCV003040663] Chr14:45154702 [GRCh38]
Chr14:45623905 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3254T>C (p.Val1085Ala) single nucleotide variant Fanconi anemia [RCV002765516]|not provided [RCV003320898] Chr14:45176008 [GRCh38]
Chr14:45645211 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4057A>T (p.Ile1353Leu) single nucleotide variant Fanconi anemia [RCV003056949] Chr14:45176811 [GRCh38]
Chr14:45646014 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2078G>A (p.Arg693Lys) single nucleotide variant Fanconi anemia [RCV002629155] Chr14:45170664 [GRCh38]
Chr14:45639867 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.448C>T (p.Gln150Ter) single nucleotide variant Fanconi anemia [RCV003062629] Chr14:45136479 [GRCh38]
Chr14:45605682 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5771C>T (p.Thr1924Ile) single nucleotide variant Fanconi anemia [RCV002651850]|not provided [RCV004763553] Chr14:45198698 [GRCh38]
Chr14:45667901 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4516-8T>C single nucleotide variant Fanconi anemia [RCV003028081] Chr14:45185209 [GRCh38]
Chr14:45654412 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5202A>T (p.Thr1734=) single nucleotide variant Fanconi anemia [RCV003047209] Chr14:45189224 [GRCh38]
Chr14:45658427 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2605_2606del (p.Glu869fs) deletion Fanconi anemia [RCV003091980] Chr14:45175358..45175359 [GRCh38]
Chr14:45644561..45644562 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4922A>G (p.Tyr1641Cys) single nucleotide variant FANCM-related disorder [RCV004738707]|Inborn genetic diseases [RCV002812867]|not provided [RCV003227089] Chr14:45188944 [GRCh38]
Chr14:45658147 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5432T>A (p.Leu1811His) single nucleotide variant Fanconi anemia [RCV002580809] Chr14:45196263 [GRCh38]
Chr14:45665466 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3706T>G (p.Phe1236Val) single nucleotide variant Fanconi anemia [RCV003065812] Chr14:45176460 [GRCh38]
Chr14:45645663 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3834A>G (p.Gln1278=) single nucleotide variant Fanconi anemia [RCV002676632] Chr14:45176588 [GRCh38]
Chr14:45645791 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2507G>T (p.Cys836Phe) single nucleotide variant Fanconi anemia [RCV002631808] Chr14:45175261 [GRCh38]
Chr14:45644464 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5387C>G (p.Ser1796Cys) single nucleotide variant Fanconi anemia [RCV002633001]|not provided [RCV004999880] Chr14:45196218 [GRCh38]
Chr14:45665421 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2801C>T (p.Thr934Ile) single nucleotide variant Fanconi anemia [RCV002941990] Chr14:45175555 [GRCh38]
Chr14:45644758 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1286del (p.Asn429fs) deletion Fanconi anemia [RCV003065217] Chr14:45154797 [GRCh38]
Chr14:45624000 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4573T>C (p.Tyr1525His) single nucleotide variant Fanconi anemia [RCV002720531] Chr14:45185274 [GRCh38]
Chr14:45654477 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3964T>G (p.Ser1322Ala) single nucleotide variant Fanconi anemia [RCV003090364] Chr14:45176718 [GRCh38]
Chr14:45645921 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3929T>G (p.Leu1310Trp) single nucleotide variant Inborn genetic diseases [RCV002746975] Chr14:45176683 [GRCh38]
Chr14:45645886 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1447T>G (p.Ser483Ala) single nucleotide variant Fanconi anemia [RCV002834014] Chr14:45159146 [GRCh38]
Chr14:45628349 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.508+17T>C single nucleotide variant Fanconi anemia [RCV003047796] Chr14:45136556 [GRCh38]
Chr14:45605759 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.121C>A (p.Pro41Thr) single nucleotide variant Fanconi anemia [RCV003030359] Chr14:45136152 [GRCh38]
Chr14:45605355 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5903A>G (p.Asn1968Ser) single nucleotide variant Fanconi anemia [RCV003089439] Chr14:45198830 [GRCh38]
Chr14:45668033 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5844G>A (p.Leu1948=) single nucleotide variant Fanconi anemia [RCV002676065] Chr14:45198771 [GRCh38]
Chr14:45667974 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1914C>G (p.His638Gln) single nucleotide variant Fanconi anemia [RCV002810586] Chr14:45167075 [GRCh38]
Chr14:45636278 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2698A>C (p.Thr900Pro) single nucleotide variant Fanconi anemia [RCV002810450] Chr14:45175452 [GRCh38]
Chr14:45644655 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter) single nucleotide variant Fanconi anemia [RCV002579847] Chr14:45176808 [GRCh38]
Chr14:45646011 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2527A>T (p.Thr843Ser) single nucleotide variant Fanconi anemia [RCV002629609] Chr14:45175281 [GRCh38]
Chr14:45644484 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3916A>G (p.Asn1306Asp) single nucleotide variant Fanconi anemia [RCV002833311] Chr14:45176670 [GRCh38]
Chr14:45645873 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4779+16A>C single nucleotide variant Fanconi anemia [RCV002895819] Chr14:45187903 [GRCh38]
Chr14:45657106 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2255del (p.His751_Ser752insTer) deletion Fanconi anemia [RCV003061594] Chr14:45173149 [GRCh38]
Chr14:45642352 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3844_3856del (p.Pro1282fs) deletion Fanconi anemia [RCV002599337] Chr14:45176595..45176607 [GRCh38]
Chr14:45645798..45645810 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.6008+4T>C single nucleotide variant Fanconi anemia [RCV003089406] Chr14:45198939 [GRCh38]
Chr14:45668142 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4348C>T (p.Leu1450Phe) single nucleotide variant Fanconi anemia [RCV002746804]|not provided [RCV004779366] Chr14:45181667 [GRCh38]
Chr14:45650870 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4329T>C (p.Asn1443=) single nucleotide variant Fanconi anemia [RCV002647371] Chr14:45181648 [GRCh38]
Chr14:45650851 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1665T>C (p.Val555=) single nucleotide variant Fanconi anemia [RCV002963139]|Inborn genetic diseases [RCV004978416] Chr14:45164442 [GRCh38]
Chr14:45633645 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4387-16del deletion Fanconi anemia [RCV002717399] Chr14:45183755 [GRCh38]
Chr14:45652958 [GRCh37]
Chr14:14q21.2		 benign
NM_020937.4(FANCM):c.4574_4575del (p.Tyr1525fs) microsatellite FANCM-related disorder [RCV004529183]|Fanconi anemia [RCV002962108] Chr14:45185273..45185274 [GRCh38]
Chr14:45654476..45654477 [GRCh37]
Chr14:14q21.2		 pathogenic|uncertain significance
NM_020937.4(FANCM):c.6117T>A (p.Leu2039=) single nucleotide variant Fanconi anemia [RCV002857386] Chr14:45199978 [GRCh38]
Chr14:45669181 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1310-12G>A single nucleotide variant Fanconi anemia [RCV003088152] Chr14:45155361 [GRCh38]
Chr14:45624564 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2921A>G (p.Asp974Gly) single nucleotide variant Fanconi anemia [RCV003089433]|not provided [RCV004593154] Chr14:45175675 [GRCh38]
Chr14:45644878 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter) single nucleotide variant FANCM-related disorder [RCV004725418]|Fanconi anemia [RCV002937698]|Premature ovarian failure 15 [RCV004595677]|not provided [RCV004721092] Chr14:45175842 [GRCh38]
Chr14:45645045 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic|not provided
NM_020937.4(FANCM):c.2686A>G (p.Asn896Asp) single nucleotide variant Fanconi anemia [RCV003063304] Chr14:45175440 [GRCh38]
Chr14:45644643 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4896T>C (p.Asp1632=) single nucleotide variant Fanconi anemia [RCV002895597] Chr14:45188918 [GRCh38]
Chr14:45658121 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4779+10A>G single nucleotide variant Fanconi anemia [RCV002937680] Chr14:45187897 [GRCh38]
Chr14:45657100 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.340G>A (p.Gly114Arg) single nucleotide variant not provided [RCV003059948] Chr14:45136371 [GRCh38]
Chr14:45605574 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4593TGA[1] (p.Asp1532del) microsatellite Fanconi anemia [RCV002628858] Chr14:45185293..45185295 [GRCh38]
Chr14:45654496..45654498 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4342T>A (p.Ser1448Thr) single nucleotide variant Fanconi anemia [RCV002833284] Chr14:45181661 [GRCh38]
Chr14:45650864 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.52C>T (p.Arg18Ter) single nucleotide variant Fanconi anemia [RCV002578307] Chr14:45136083 [GRCh38]
Chr14:45605286 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4222+4A>C single nucleotide variant Fanconi anemia [RCV003090109] Chr14:45176980 [GRCh38]
Chr14:45646183 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4279_4283del (p.Val1427fs) deletion Fanconi anemia [RCV002629379] Chr14:45181484..45181488 [GRCh38]
Chr14:45650687..45650691 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1184-19C>G single nucleotide variant Fanconi anemia [RCV002938110] Chr14:45154678 [GRCh38]
Chr14:45623881 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1540G>C (p.Gly514Arg) single nucleotide variant Fanconi anemia [RCV003044583] Chr14:45159239 [GRCh38]
Chr14:45628442 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3113T>C (p.Leu1038Pro) single nucleotide variant Fanconi anemia [RCV002716613]|not provided [RCV004812456] Chr14:45175867 [GRCh38]
Chr14:45645070 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3238C>T (p.Leu1080Phe) single nucleotide variant Fanconi anemia [RCV002806828] Chr14:45175992 [GRCh38]
Chr14:45645195 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5062A>G (p.Ile1688Val) single nucleotide variant Fanconi anemia [RCV003061185] Chr14:45189084 [GRCh38]
Chr14:45658287 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5716+16T>C single nucleotide variant Fanconi anemia [RCV003062601] Chr14:45196563 [GRCh38]
Chr14:45665766 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3631G>A (p.Glu1211Lys) single nucleotide variant Fanconi anemia [RCV002671092] Chr14:45176385 [GRCh38]
Chr14:45645588 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2492A>C (p.Glu831Ala) single nucleotide variant Fanconi anemia [RCV002599856] Chr14:45175246 [GRCh38]
Chr14:45644449 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.547_548delinsCTTA (p.Ser183fs) indel Fanconi anemia [RCV003089982] Chr14:45137107..45137108 [GRCh38]
Chr14:45606310..45606311 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1933G>A (p.Gly645Ser) single nucleotide variant Fanconi anemia [RCV003090243] Chr14:45167094 [GRCh38]
Chr14:45636297 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.136G>A (p.Ala46Thr) single nucleotide variant Fanconi anemia [RCV003047406] Chr14:45136167 [GRCh38]
Chr14:45605370 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1795A>T (p.Asn599Tyr) single nucleotide variant Fanconi anemia [RCV002650233] Chr14:45166956 [GRCh38]
Chr14:45636159 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.95C>T (p.Pro32Leu) single nucleotide variant Fanconi anemia [RCV002745961] Chr14:45136126 [GRCh38]
Chr14:45605329 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.582G>A (p.Met194Ile) single nucleotide variant Fanconi anemia [RCV002937475]|Inborn genetic diseases [RCV004973713]|not provided [RCV004786770] Chr14:45137142 [GRCh38]
Chr14:45606345 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2304G>A (p.Met768Ile) single nucleotide variant Fanconi anemia [RCV003090957] Chr14:45173198 [GRCh38]
Chr14:45642401 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1268C>T (p.Thr423Ile) single nucleotide variant Fanconi anemia [RCV003061304] Chr14:45154781 [GRCh38]
Chr14:45623984 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1000A>C (p.Ile334Leu) single nucleotide variant Fanconi anemia [RCV002966301] Chr14:45151478 [GRCh38]
Chr14:45620681 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2801C>G (p.Thr934Ser) single nucleotide variant Fanconi anemia [RCV003089426] Chr14:45175555 [GRCh38]
Chr14:45644758 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.825A>G (p.Pro275=) single nucleotide variant Fanconi anemia [RCV002716897] Chr14:45148902 [GRCh38]
Chr14:45618105 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3054G>T (p.Glu1018Asp) single nucleotide variant Fanconi anemia [RCV003063403] Chr14:45175808 [GRCh38]
Chr14:45645011 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3962T>C (p.Leu1321Ser) single nucleotide variant Fanconi anemia [RCV002629809] Chr14:45176716 [GRCh38]
Chr14:45645919 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5010A>C (p.Pro1670=) single nucleotide variant Fanconi anemia [RCV002857002] Chr14:45189032 [GRCh38]
Chr14:45658235 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1184-14C>A single nucleotide variant Fanconi anemia [RCV002578770] Chr14:45154683 [GRCh38]
Chr14:45623886 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3331G>A (p.Val1111Ile) single nucleotide variant Fanconi anemia [RCV003063008] Chr14:45176085 [GRCh38]
Chr14:45645288 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4317+19_4317+46del deletion Fanconi anemia [RCV003065743] Chr14:45181543..45181570 [GRCh38]
Chr14:45650746..45650773 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1270C>G (p.Arg424Gly) single nucleotide variant Fanconi anemia [RCV003086797]|Inborn genetic diseases [RCV004978596] Chr14:45154783 [GRCh38]
Chr14:45623986 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2191C>T (p.Leu731Phe) single nucleotide variant Fanconi anemia [RCV002937301] Chr14:45173085 [GRCh38]
Chr14:45642288 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5760C>T (p.Ser1920=) single nucleotide variant Fanconi anemia [RCV003029151] Chr14:45198687 [GRCh38]
Chr14:45667890 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1260T>A (p.Phe420Leu) single nucleotide variant Fanconi anemia [RCV003086910]|Inborn genetic diseases [RCV004978607] Chr14:45154773 [GRCh38]
Chr14:45623976 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3960G>C (p.Leu1320Phe) single nucleotide variant Fanconi anemia [RCV003087216] Chr14:45176714 [GRCh38]
Chr14:45645917 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5375G>A (p.Gly1792Glu) single nucleotide variant Fanconi anemia [RCV003063151] Chr14:45196206 [GRCh38]
Chr14:45665409 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2889C>G (p.Phe963Leu) single nucleotide variant Fanconi anemia [RCV003009447] Chr14:45175643 [GRCh38]
Chr14:45644846 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.901C>T (p.Gln301Ter) single nucleotide variant Fanconi anemia [RCV002629996] Chr14:45148978 [GRCh38]
Chr14:45618181 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5713A>G (p.Thr1905Ala) single nucleotide variant Fanconi anemia [RCV002834868] Chr14:45196544 [GRCh38]
Chr14:45665747 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5889A>G (p.Thr1963=) single nucleotide variant FANCM-related disorder [RCV004534144]|Fanconi anemia [RCV002630558] Chr14:45198816 [GRCh38]
Chr14:45668019 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4318-15A>G single nucleotide variant Fanconi anemia [RCV003089849] Chr14:45181622 [GRCh38]
Chr14:45650825 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.439G>C (p.Val147Leu) single nucleotide variant Inborn genetic diseases [RCV002718174] Chr14:45136470 [GRCh38]
Chr14:45605673 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3263A>G (p.His1088Arg) single nucleotide variant Fanconi anemia [RCV003091276] Chr14:45176017 [GRCh38]
Chr14:45645220 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1111T>C (p.Tyr371His) single nucleotide variant Fanconi anemia [RCV002770926] Chr14:45153980 [GRCh38]
Chr14:45623183 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4346C>T (p.Pro1449Leu) single nucleotide variant Fanconi anemia [RCV002943572]|Inborn genetic diseases [RCV003170714] Chr14:45181665 [GRCh38]
Chr14:45650868 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2953del (p.Glu985fs) deletion Fanconi anemia [RCV003070226] Chr14:45175707 [GRCh38]
Chr14:45644910 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4317+15A>G single nucleotide variant Fanconi anemia [RCV002721630] Chr14:45181539 [GRCh38]
Chr14:45650742 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1638T>C (p.Gly546=) single nucleotide variant Fanconi anemia [RCV003067128] Chr14:45164415 [GRCh38]
Chr14:45633618 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4666A>G (p.Ile1556Val) single nucleotide variant Fanconi anemia [RCV002585125] Chr14:45185367 [GRCh38]
Chr14:45654570 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2471G>T (p.Gly824Val) single nucleotide variant Fanconi anemia [RCV003093418] Chr14:45175225 [GRCh38]
Chr14:45644428 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5508C>T (p.Ser1836=) single nucleotide variant Fanconi anemia [RCV002584241] Chr14:45196339 [GRCh38]
Chr14:45665542 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3489C>G (p.Asp1163Glu) single nucleotide variant Fanconi anemia [RCV003032173] Chr14:45176243 [GRCh38]
Chr14:45645446 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4473C>T (p.Ala1491=) single nucleotide variant FANCM-related disorder [RCV004536476]|Fanconi anemia [RCV002943385]|Inborn genetic diseases [RCV004973762] Chr14:45183860 [GRCh38]
Chr14:45653063 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6143del (p.Ile2048fs) deletion Fanconi anemia [RCV002633963]|not provided [RCV004765692] Chr14:45200004 [GRCh38]
Chr14:45669207 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.760-19_760-16del deletion Fanconi anemia [RCV002658355] Chr14:45148816..45148819 [GRCh38]
Chr14:45618019..45618022 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5185A>G (p.Lys1729Glu) single nucleotide variant Fanconi anemia [RCV003050910] Chr14:45189207 [GRCh38]
Chr14:45658410 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2140C>G (p.Gln714Glu) single nucleotide variant Fanconi anemia [RCV003072724]|Hereditary cancer [RCV004700938] Chr14:45170726 [GRCh38]
Chr14:45639929 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4525A>C (p.Arg1509=) single nucleotide variant Fanconi anemia [RCV003072814]|Inborn genetic diseases [RCV004978573] Chr14:45185226 [GRCh38]
Chr14:45654429 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4673-12A>T single nucleotide variant Fanconi anemia [RCV002609834] Chr14:45187769 [GRCh38]
Chr14:45656972 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter) single nucleotide variant Fanconi anemia [RCV002589414] Chr14:45170636 [GRCh38]
Chr14:45639839 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter) single nucleotide variant Fanconi anemia [RCV002607696] Chr14:45188952 [GRCh38]
Chr14:45658155 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1087A>G (p.Ile363Val) single nucleotide variant Fanconi anemia [RCV002605266] Chr14:45153956 [GRCh38]
Chr14:45623159 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1582-13G>A single nucleotide variant Fanconi anemia [RCV003070917] Chr14:45164346 [GRCh38]
Chr14:45633549 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4668A>G (p.Ile1556Met) single nucleotide variant Fanconi anemia [RCV002589926]|not provided [RCV003317614] Chr14:45185369 [GRCh38]
Chr14:45654572 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3822T>C (p.Tyr1274=) single nucleotide variant Fanconi anemia [RCV003067962] Chr14:45176576 [GRCh38]
Chr14:45645779 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3760A>G (p.Arg1254Gly) single nucleotide variant Fanconi anemia [RCV003068046]|not provided [RCV004999857] Chr14:45176514 [GRCh38]
Chr14:45645717 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1992C>A (p.Ser664=) single nucleotide variant Fanconi anemia [RCV002633869] Chr14:45167153 [GRCh38]
Chr14:45636356 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.70G>C (p.Gly24Arg) single nucleotide variant Fanconi anemia [RCV003066857] Chr14:45136101 [GRCh38]
Chr14:45605304 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2342T>A (p.Val781Asp) single nucleotide variant Fanconi anemia [RCV002588490] Chr14:45175096 [GRCh38]
Chr14:45644299 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3041G>T (p.Gly1014Val) single nucleotide variant Fanconi anemia [RCV002612944] Chr14:45175795 [GRCh38]
Chr14:45644998 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4672+8T>A single nucleotide variant Fanconi anemia [RCV002653041] Chr14:45185381 [GRCh38]
Chr14:45654584 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5853G>A (p.Val1951=) single nucleotide variant Fanconi anemia [RCV002588687] Chr14:45198780 [GRCh38]
Chr14:45667983 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1826A>G (p.Tyr609Cys) single nucleotide variant Fanconi anemia [RCV002611147] Chr14:45166987 [GRCh38]
Chr14:45636190 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4318G>A (p.Asp1440Asn) single nucleotide variant Fanconi anemia [RCV003066723]|Inborn genetic diseases [RCV004978508] Chr14:45181637 [GRCh38]
Chr14:45650840 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1242T>C (p.Asn414=) single nucleotide variant Fanconi anemia [RCV003068000] Chr14:45154755 [GRCh38]
Chr14:45623958 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5372C>T (p.Ser1791Leu) single nucleotide variant Fanconi anemia [RCV002654639]|not provided [RCV004765695] Chr14:45196203 [GRCh38]
Chr14:45665406 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1428G>T (p.Glu476Asp) single nucleotide variant Fanconi anemia [RCV003069943] Chr14:45159127 [GRCh38]
Chr14:45628330 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5806T>A (p.Ser1936Thr) single nucleotide variant Fanconi anemia [RCV002584380] Chr14:45198733 [GRCh38]
Chr14:45667936 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.508+19A>G single nucleotide variant Fanconi anemia [RCV003070561] Chr14:45136558 [GRCh38]
Chr14:45605761 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3235_3238del (p.Leu1080fs) deletion Fanconi anemia [RCV002610417] Chr14:45175989..45175992 [GRCh38]
Chr14:45645192..45645195 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1581+30_1581+35del microsatellite Fanconi anemia [RCV003073177] Chr14:45159300..45159305 [GRCh38]
Chr14:45628503..45628508 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2040A>T (p.Leu680Phe) single nucleotide variant Fanconi anemia [RCV002612631] Chr14:45170626 [GRCh38]
Chr14:45639829 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3347ATG[1] (p.Asp1117del) microsatellite not provided [RCV003149408] Chr14:45176101..45176103 [GRCh38]
Chr14:45645304..45645306 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.337A>G (p.Thr113Ala) single nucleotide variant not provided [RCV004779626] Chr14:45136368 [GRCh38]
Chr14:45605571 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5729G>T (p.Arg1910Met) single nucleotide variant not provided [RCV004778058] Chr14:45198656 [GRCh38]
Chr14:45667859 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1273A>G (p.Ser425Gly) single nucleotide variant not provided [RCV003227363] Chr14:45154786 [GRCh38]
Chr14:45623989 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5572A>T (p.Ser1858Cys) single nucleotide variant not provided [RCV003227449] Chr14:45196403 [GRCh38]
Chr14:45665606 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.274C>T (p.Arg92Trp) single nucleotide variant not provided [RCV003225498] Chr14:45136305 [GRCh38]
Chr14:45605508 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.263A>T (p.Asn88Ile) single nucleotide variant not provided [RCV003218898] Chr14:45136294 [GRCh38]
Chr14:45605497 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5144A>C (p.Gln1715Pro) single nucleotide variant not provided [RCV003223912] Chr14:45189166 [GRCh38]
Chr14:45658369 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3524A>C (p.Gln1175Pro) single nucleotide variant not provided [RCV003223961] Chr14:45176278 [GRCh38]
Chr14:45645481 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1132G>C (p.Gly378Arg) single nucleotide variant Fanconi anemia [RCV003523148]|not provided [RCV003159477] Chr14:45154001 [GRCh38]
Chr14:45623204 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1162G>A (p.Gly388Arg) single nucleotide variant Inborn genetic diseases [RCV003216946] Chr14:45154031 [GRCh38]
Chr14:45623234 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3160C>G (p.Leu1054Val) single nucleotide variant not provided [RCV003227106] Chr14:45175914 [GRCh38]
Chr14:45645117 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5843T>G (p.Leu1948Arg) single nucleotide variant not provided [RCV003225445] Chr14:45198770 [GRCh38]
Chr14:45667973 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2818A>G (p.Asn940Asp) single nucleotide variant not provided [RCV003227256] Chr14:45175572 [GRCh38]
Chr14:45644775 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3656A>G (p.Asp1219Gly) single nucleotide variant Inborn genetic diseases [RCV003199252] Chr14:45176410 [GRCh38]
Chr14:45645613 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5627A>C (p.Asn1876Thr) single nucleotide variant not provided [RCV003228340] Chr14:45196458 [GRCh38]
Chr14:45665661 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1261G>A (p.Ala421Thr) single nucleotide variant Premature ovarian failure 15 [RCV003140590] Chr14:45154774 [GRCh38]
Chr14:45623977 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1211G>T (p.Gly404Val) single nucleotide variant not provided [RCV003147182] Chr14:45154724 [GRCh38]
Chr14:45623927 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.153G>A (p.Glu51=) single nucleotide variant not provided [RCV003147183] Chr14:45136184 [GRCh38]
Chr14:45605387 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.706A>G (p.Thr236Ala) single nucleotide variant not provided [RCV003223841] Chr14:45140656 [GRCh38]
Chr14:45609859 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6029T>C (p.Met2010Thr) single nucleotide variant Inborn genetic diseases [RCV004978805]|not provided [RCV003224037] Chr14:45199890 [GRCh38]
Chr14:45669093 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3427G>C (p.Glu1143Gln) single nucleotide variant not provided [RCV003225569] Chr14:45176181 [GRCh38]
Chr14:45645384 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1169T>C (p.Met390Thr) single nucleotide variant not provided [RCV003227222] Chr14:45154038 [GRCh38]
Chr14:45623241 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.26T>G (p.Phe9Cys) single nucleotide variant not provided [RCV003318928] Chr14:45136057 [GRCh38]
Chr14:45605260 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1225T>G (p.Phe409Val) single nucleotide variant not provided [RCV003323193] Chr14:45154738 [GRCh38]
Chr14:45623941 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3242G>C (p.Cys1081Ser) single nucleotide variant Inborn genetic diseases [RCV004334072]|not provided [RCV003323195] Chr14:45175996 [GRCh38]
Chr14:45645199 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3782G>C (p.Gly1261Ala) single nucleotide variant not provided [RCV003323151] Chr14:45176536 [GRCh38]
Chr14:45645739 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2501A>G (p.Glu834Gly) single nucleotide variant not provided [RCV003323159] Chr14:45175255 [GRCh38]
Chr14:45644458 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5340+4T>C single nucleotide variant Fanconi anemia [RCV003636010]|not provided [RCV003323049] Chr14:45189366 [GRCh38]
Chr14:45658569 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3892T>C (p.Ser1298Pro) single nucleotide variant not provided [RCV003319792] Chr14:45176646 [GRCh38]
Chr14:45645849 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4318-10C>G single nucleotide variant not provided [RCV003319910] Chr14:45181627 [GRCh38]
Chr14:45650830 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2788A>G (p.Thr930Ala) single nucleotide variant not provided [RCV003323000] Chr14:45175542 [GRCh38]
Chr14:45644745 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.531G>A (p.Arg177=) single nucleotide variant not provided [RCV003318772] Chr14:45137091 [GRCh38]
Chr14:45606294 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1155C>G (p.Phe385Leu) single nucleotide variant Inborn genetic diseases [RCV003265528]|not provided [RCV004999910] Chr14:45154024 [GRCh38]
Chr14:45623227 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.136G>T (p.Ala46Ser) single nucleotide variant not provided [RCV003329916] Chr14:45136167 [GRCh38]
Chr14:45605370 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2046A>T (p.Glu682Asp) single nucleotide variant Fanconi anemia [RCV003636011]|Inborn genetic diseases [RCV004978826]|not provided [RCV003325703] Chr14:45170632 [GRCh38]
Chr14:45639835 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.727G>A (p.Ala243Thr) single nucleotide variant not provided [RCV003325834] Chr14:45140677 [GRCh38]
Chr14:45609880 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1835T>C (p.Ile612Thr) single nucleotide variant not provided [RCV003328879] Chr14:45166996 [GRCh38]
Chr14:45636199 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5675A>C (p.Glu1892Ala) single nucleotide variant not provided [RCV003325816] Chr14:45196506 [GRCh38]
Chr14:45665709 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2858A>C (p.Lys953Thr) single nucleotide variant not provided [RCV003325868] Chr14:45175612 [GRCh38]
Chr14:45644815 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3676G>T (p.Asp1226Tyr) single nucleotide variant Inborn genetic diseases [RCV004978829]|not provided [RCV003328907] Chr14:45176430 [GRCh38]
Chr14:45645633 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3896A>G (p.Asn1299Ser) single nucleotide variant not provided [RCV003329042] Chr14:45176650 [GRCh38]
Chr14:45645853 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1991C>T (p.Ser664Phe) single nucleotide variant not provided [RCV003329065] Chr14:45167152 [GRCh38]
Chr14:45636355 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1788+2T>A single nucleotide variant not provided [RCV003334162] Chr14:45164567 [GRCh38]
Chr14:45633770 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.5050A>G (p.Arg1684Gly) single nucleotide variant Inborn genetic diseases [RCV003343530] Chr14:45189072 [GRCh38]
Chr14:45658275 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4699A>G (p.Lys1567Glu) single nucleotide variant Inborn genetic diseases [RCV003360498] Chr14:45187807 [GRCh38]
Chr14:45657010 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2185C>T (p.His729Tyr) single nucleotide variant Fanconi anemia [RCV003523158]|not provided [RCV003332568] Chr14:45173079 [GRCh38]
Chr14:45642282 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3005G>C (p.Ser1002Thr) single nucleotide variant not provided [RCV003332576] Chr14:45175759 [GRCh38]
Chr14:45644962 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3307C>T (p.His1103Tyr) single nucleotide variant Inborn genetic diseases [RCV003376895] Chr14:45176061 [GRCh38]
Chr14:45645264 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3297T>G (p.Arg1099=) single nucleotide variant Fanconi anemia [RCV003523175]|not provided [RCV003393413] Chr14:45176051 [GRCh38]
Chr14:45645254 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4839T>A (p.Ser1613=) single nucleotide variant not provided [RCV003393414] Chr14:45188861 [GRCh38]
Chr14:45658064 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1363_1366delinsCAAAGTTAAAGAAA (p.Glu455_Val456delinsGlnSerTer) indel Fanconi anemia [RCV003777404]|not provided [RCV003332867] Chr14:45155426..45155429 [GRCh38]
Chr14:45624629..45624632 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.2150A>G (p.Glu717Gly) single nucleotide variant Inborn genetic diseases [RCV003352237] Chr14:45170736 [GRCh38]
Chr14:45639939 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile) single nucleotide variant Fanconi anemia [RCV003523165]|Inborn genetic diseases [RCV003367459] Chr14:45176770 [GRCh38]
Chr14:45645973 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.2837A>G (p.Tyr946Cys) single nucleotide variant Fanconi anemia [RCV003873632]|Spermatogenic failure 28 [RCV005013265] Chr14:45175591 [GRCh38]
Chr14:45644794 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5560G>T (p.Asp1854Tyr) single nucleotide variant not provided [RCV003477224] Chr14:45196391 [GRCh38]
Chr14:45665594 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3783A>G (p.Gly1261=) single nucleotide variant Fanconi anemia [RCV003636039]|not provided [RCV003477219] Chr14:45176537 [GRCh38]
Chr14:45645740 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4258G>C (p.Asp1420His) single nucleotide variant not provided [RCV003477220] Chr14:45181465 [GRCh38]
Chr14:45650668 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4454A>C (p.Lys1485Thr) single nucleotide variant not provided [RCV003477222] Chr14:45183841 [GRCh38]
Chr14:45653044 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5928_5931del (p.Phe1975_Tyr1976insTer) microsatellite not provided [RCV003477227] Chr14:45198851..45198854 [GRCh38]
Chr14:45668054..45668057 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.3670T>C (p.Ser1224Pro) single nucleotide variant Fanconi anemia [RCV003874341]|not provided [RCV004775526] Chr14:45176424 [GRCh38]
Chr14:45645627 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3494_3499dup (p.Ala1166_Ile1167insThrAla) duplication Fanconi anemia [RCV003874906] Chr14:45176246..45176247 [GRCh38]
Chr14:45645449..45645450 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1789-5T>C single nucleotide variant not provided [RCV003477212] Chr14:45166945 [GRCh38]
Chr14:45636148 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2952A>C (p.Lys984Asn) single nucleotide variant Fanconi anemia [RCV003779182]|not provided [RCV003477216] Chr14:45175706 [GRCh38]
Chr14:45644909 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5913G>C (p.Glu1971Asp) single nucleotide variant not provided [RCV003477226] Chr14:45198840 [GRCh38]
Chr14:45668043 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6123A>C (p.Gln2041His) single nucleotide variant not provided [RCV003477228] Chr14:45199984 [GRCh38]
Chr14:45669187 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2130T>G (p.Phe710Leu) single nucleotide variant FANCM-related disorder [RCV004528550] Chr14:45170716 [GRCh38]
Chr14:45639919 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1260T>G (p.Phe420Leu) single nucleotide variant Fanconi anemia [RCV003779181]|not provided [RCV003477211] Chr14:45154773 [GRCh38]
Chr14:45623976 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3427G>A (p.Glu1143Lys) single nucleotide variant not provided [RCV003477217] Chr14:45176181 [GRCh38]
Chr14:45645384 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2725A>T (p.Thr909Ser) single nucleotide variant not provided [RCV003477214] Chr14:45175479 [GRCh38]
Chr14:45644682 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4432T>C (p.Cys1478Arg) single nucleotide variant not provided [RCV003477221] Chr14:45183819 [GRCh38]
Chr14:45653022 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4850A>G (p.Gln1617Arg) single nucleotide variant Fanconi anemia [RCV003523209]|not provided [RCV003477223] Chr14:45188872 [GRCh38]
Chr14:45658075 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5751C>T (p.Ser1917=) single nucleotide variant not provided [RCV003477225] Chr14:45198678 [GRCh38]
Chr14:45667881 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5059A>G (p.Asn1687Asp) single nucleotide variant Fanconi anemia [RCV003636020]|not provided [RCV003442417] Chr14:45189081 [GRCh38]
Chr14:45658284 [GRCh37]
Chr14:14q21.2		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
NM_020937.4(FANCM):c.2404A>T (p.Asn802Tyr) single nucleotide variant not provided [RCV003442259] Chr14:45175158 [GRCh38]
Chr14:45644361 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2531A>G (p.His844Arg) single nucleotide variant not provided [RCV003393412] Chr14:45175285 [GRCh38]
Chr14:45644488 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1139_1140del (p.Arg380fs) microsatellite Premature ovarian failure 15 [RCV003389092] Chr14:45154006..45154007 [GRCh38]
Chr14:45623209..45623210 [GRCh37]
Chr14:14q21.2		 likely pathogenic|low penetrance
NM_020937.4(FANCM):c.1697G>A (p.Ser566Asn) single nucleotide variant not provided [RCV004776680] Chr14:45164474 [GRCh38]
Chr14:45633677 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1105C>T (p.His369Tyr) single nucleotide variant Spermatogenic failure 28 [RCV005012984]|not provided [RCV003477210] Chr14:45153974 [GRCh38]
Chr14:45623177 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2748T>A (p.Val916=) single nucleotide variant not provided [RCV003477215] Chr14:45175502 [GRCh38]
Chr14:45644705 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.359T>C (p.Ile120Thr) single nucleotide variant not provided [RCV003477218] Chr14:45136390 [GRCh38]
Chr14:45605593 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1906A>C (p.Lys636Gln) single nucleotide variant FANCM-related disorder [RCV004529640] Chr14:45167067 [GRCh38]
Chr14:45636270 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3577C>T (p.Gln1193Ter) single nucleotide variant FANCM-related disorder [RCV004529302] Chr14:45176331 [GRCh38]
Chr14:45645534 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.737C>T (p.Ala246Val) single nucleotide variant FANCM-related disorder [RCV004528767] Chr14:45140687 [GRCh38]
Chr14:45609890 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.107del (p.Gly36fs) deletion FANCM-related disorder [RCV004536729] Chr14:45136137 [GRCh38]
Chr14:45605340 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.3479C>A (p.Pro1160His) single nucleotide variant not provided [RCV003443532] Chr14:45176233 [GRCh38]
Chr14:45645436 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6009-3del deletion not provided [RCV003443542] Chr14:45199867 [GRCh38]
Chr14:45669070 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1250A>T (p.Glu417Val) single nucleotide variant not provided [RCV004590621] Chr14:45154763 [GRCh38]
Chr14:45623966 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1978T>C (p.Ser660Pro) single nucleotide variant not provided [RCV003443911] Chr14:45167139 [GRCh38]
Chr14:45636342 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5263G>A (p.Glu1755Lys) single nucleotide variant FANCM-related disorder [RCV004534259] Chr14:45189285 [GRCh38]
Chr14:45658488 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.689G>A (p.Arg230Lys) single nucleotide variant not provided [RCV003441190] Chr14:45140639 [GRCh38]
Chr14:45609842 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4538A>G (p.Asp1513Gly) single nucleotide variant FANCM-related disorder [RCV004529345] Chr14:45185239 [GRCh38]
Chr14:45654442 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5682A>G (p.Ile1894Met) single nucleotide variant Fanconi anemia [RCV003848981] Chr14:45196513 [GRCh38]
Chr14:45665716 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.734G>A (p.Ser245Asn) single nucleotide variant Fanconi anemia [RCV003524567] Chr14:45140684 [GRCh38]
Chr14:45609887 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2316G>A (p.Glu772=) single nucleotide variant Fanconi anemia [RCV003524784] Chr14:45173210 [GRCh38]
Chr14:45642413 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2162C>T (p.Ala721Val) single nucleotide variant Fanconi anemia [RCV003524940] Chr14:45173056 [GRCh38]
Chr14:45642259 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2604A>G (p.Lys868=) single nucleotide variant Fanconi anemia [RCV003524870] Chr14:45175358 [GRCh38]
Chr14:45644561 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2967T>C (p.Asn989=) single nucleotide variant Fanconi anemia [RCV003524983] Chr14:45175721 [GRCh38]
Chr14:45644924 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3968C>A (p.Pro1323His) single nucleotide variant Fanconi anemia [RCV003525076] Chr14:45176722 [GRCh38]
Chr14:45645925 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.956A>G (p.Asn319Ser) single nucleotide variant Fanconi anemia [RCV003880445] Chr14:45151434 [GRCh38]
Chr14:45620637 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3224C>T (p.Ser1075Phe) single nucleotide variant Fanconi anemia [RCV003525302]|not provided [RCV004820302] Chr14:45175978 [GRCh38]
Chr14:45645181 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2135_2140dup (p.Leu713_Gln714insProLeu) duplication Fanconi anemia [RCV003880746]|not provided [RCV004775531] Chr14:45170720..45170721 [GRCh38]
Chr14:45639923..45639924 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2161-11A>T single nucleotide variant Fanconi anemia [RCV003525259] Chr14:45173044 [GRCh38]
Chr14:45642247 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2002+12T>C single nucleotide variant Fanconi anemia [RCV003525345] Chr14:45167175 [GRCh38]
Chr14:45636378 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6016C>A (p.Gln2006Lys) single nucleotide variant Fanconi anemia [RCV003524652] Chr14:45199877 [GRCh38]
Chr14:45669080 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4648A>T (p.Thr1550Ser) single nucleotide variant Fanconi anemia [RCV003828859] Chr14:45185349 [GRCh38]
Chr14:45654552 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3856A>G (p.Ser1286Gly) single nucleotide variant Fanconi anemia [RCV003524862] Chr14:45176610 [GRCh38]
Chr14:45645813 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1599T>C (p.Arg533=) single nucleotide variant Fanconi anemia [RCV003525031] Chr14:45164376 [GRCh38]
Chr14:45633579 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4222+19A>G single nucleotide variant Fanconi anemia [RCV003525104] Chr14:45176995 [GRCh38]
Chr14:45646198 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4673-1G>A single nucleotide variant Fanconi anemia [RCV003524873] Chr14:45187780 [GRCh38]
Chr14:45656983 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.2693A>G (p.Lys898Arg) single nucleotide variant Fanconi anemia [RCV003525035] Chr14:45175447 [GRCh38]
Chr14:45644650 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4475_4485del (p.Arg1492fs) deletion Fanconi anemia [RCV003525077] Chr14:45183862..45183872 [GRCh38]
Chr14:45653065..45653075 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter) single nucleotide variant Fanconi anemia [RCV003525089] Chr14:45170620 [GRCh38]
Chr14:45639823 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter) single nucleotide variant Fanconi anemia [RCV003879688] Chr14:45170662 [GRCh38]
Chr14:45639865 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5097_5100del (p.Lys1699fs) microsatellite Fanconi anemia [RCV003828034] Chr14:45189114..45189117 [GRCh38]
Chr14:45658317..45658320 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.681+7A>C single nucleotide variant Fanconi anemia [RCV003524663] Chr14:45137248 [GRCh38]
Chr14:45606451 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1982C>T (p.Ser661Phe) single nucleotide variant Fanconi anemia [RCV003524987] Chr14:45167143 [GRCh38]
Chr14:45636346 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4779+14A>T single nucleotide variant Fanconi anemia [RCV003524991] Chr14:45187901 [GRCh38]
Chr14:45657104 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6122_6125del (p.Gln2041fs) deletion Fanconi anemia [RCV003525016] Chr14:45199983..45199986 [GRCh38]
Chr14:45669186..45669189 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5716+5G>A single nucleotide variant Fanconi anemia [RCV003878429] Chr14:45196552 [GRCh38]
Chr14:45665755 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter) single nucleotide variant Fanconi anemia [RCV003525073]|not provided [RCV004999963] Chr14:45185338 [GRCh38]
Chr14:45654541 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.786G>A (p.Leu262=) single nucleotide variant Fanconi anemia [RCV003825333] Chr14:45148863 [GRCh38]
Chr14:45618066 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.681+11T>G single nucleotide variant Fanconi anemia [RCV003525144] Chr14:45137252 [GRCh38]
Chr14:45606455 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4780-6T>C single nucleotide variant Fanconi anemia [RCV003525154] Chr14:45188796 [GRCh38]
Chr14:45657999 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5120C>T (p.Ser1707Leu) single nucleotide variant Fanconi anemia [RCV003524771] Chr14:45189142 [GRCh38]
Chr14:45658345 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5239G>C (p.Asp1747His) single nucleotide variant Fanconi anemia [RCV003524792] Chr14:45189261 [GRCh38]
Chr14:45658464 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.799A>G (p.Ile267Val) single nucleotide variant Fanconi anemia [RCV003524834] Chr14:45148876 [GRCh38]
Chr14:45618079 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.888A>G (p.Glu296=) single nucleotide variant Fanconi anemia [RCV003525307] Chr14:45148965 [GRCh38]
Chr14:45618168 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2263T>C (p.Cys755Arg) single nucleotide variant Fanconi anemia [RCV003525309] Chr14:45173157 [GRCh38]
Chr14:45642360 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1010C>T (p.Ala337Val) single nucleotide variant Fanconi anemia [RCV003524881] Chr14:45151488 [GRCh38]
Chr14:45620691 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1327T>A (p.Phe443Ile) single nucleotide variant Fanconi anemia [RCV003524872] Chr14:45155390 [GRCh38]
Chr14:45624593 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5692G>A (p.Val1898Met) single nucleotide variant Fanconi anemia [RCV003524957] Chr14:45196523 [GRCh38]
Chr14:45665726 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1995T>C (p.Tyr665=) single nucleotide variant Fanconi anemia [RCV003880762] Chr14:45167156 [GRCh38]
Chr14:45636359 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2498A>C (p.Asp833Ala) single nucleotide variant Fanconi anemia [RCV003522908] Chr14:45175252 [GRCh38]
Chr14:45644455 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4851A>G (p.Gln1617=) single nucleotide variant Fanconi anemia [RCV003522914] Chr14:45188873 [GRCh38]
Chr14:45658076 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5687_5688dup (p.Ile1897Ter) microsatellite Fanconi anemia [RCV003523259] Chr14:45196513..45196514 [GRCh38]
Chr14:45665716..45665717 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2792A>G (p.Asn931Ser) single nucleotide variant Fanconi anemia [RCV003524292] Chr14:45175546 [GRCh38]
Chr14:45644749 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3767T>G (p.Leu1256Arg) single nucleotide variant Fanconi anemia [RCV003524252] Chr14:45176521 [GRCh38]
Chr14:45645724 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1396G>A (p.Ala466Thr) single nucleotide variant Fanconi anemia [RCV003524380] Chr14:45155459 [GRCh38]
Chr14:45624662 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1283C>T (p.Ala428Val) single nucleotide variant Fanconi anemia [RCV003524384] Chr14:45154796 [GRCh38]
Chr14:45623999 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3989T>C (p.Leu1330Ser) single nucleotide variant Fanconi anemia [RCV003523471] Chr14:45176743 [GRCh38]
Chr14:45645946 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1932T>C (p.His644=) single nucleotide variant Fanconi anemia [RCV003524477] Chr14:45167093 [GRCh38]
Chr14:45636296 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2359del (p.Met787fs) deletion Fanconi anemia [RCV003524466] Chr14:45175111 [GRCh38]
Chr14:45644314 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.98A>C (p.Gln33Pro) single nucleotide variant Fanconi anemia [RCV003524510] Chr14:45136129 [GRCh38]
Chr14:45605332 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1430C>T (p.Thr477Ile) single nucleotide variant Fanconi anemia [RCV003522172] Chr14:45159129 [GRCh38]
Chr14:45628332 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5717-18C>T single nucleotide variant Fanconi anemia [RCV003523521] Chr14:45198626 [GRCh38]
Chr14:45667829 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5624T>C (p.Val1875Ala) single nucleotide variant Fanconi anemia [RCV003834216] Chr14:45196455 [GRCh38]
Chr14:45665658 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1871G>A (p.Arg624Lys) single nucleotide variant Fanconi anemia [RCV003522229] Chr14:45167032 [GRCh38]
Chr14:45636235 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.508+20T>C single nucleotide variant Fanconi anemia [RCV003522249] Chr14:45136559 [GRCh38]
Chr14:45605762 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.661G>A (p.Gly221Arg) single nucleotide variant Fanconi anemia [RCV003522384] Chr14:45137221 [GRCh38]
Chr14:45606424 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5340+2T>C single nucleotide variant Fanconi anemia [RCV003523625] Chr14:45189364 [GRCh38]
Chr14:45658567 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4410G>A (p.Glu1470=) single nucleotide variant Fanconi anemia [RCV003522399]|Inborn genetic diseases [RCV004980866] Chr14:45183797 [GRCh38]
Chr14:45653000 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.226T>C (p.Cys76Arg) single nucleotide variant Fanconi anemia [RCV003522441] Chr14:45136257 [GRCh38]
Chr14:45605460 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3064T>C (p.Phe1022Leu) single nucleotide variant Fanconi anemia [RCV003522463] Chr14:45175818 [GRCh38]
Chr14:45645021 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2261G>C (p.Arg754Pro) single nucleotide variant Fanconi anemia [RCV003523763] Chr14:45173155 [GRCh38]
Chr14:45642358 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.682-14T>G single nucleotide variant Fanconi anemia [RCV003522468] Chr14:45140618 [GRCh38]
Chr14:45609821 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1457G>A (p.Arg486Gln) single nucleotide variant Fanconi anemia [RCV003835537] Chr14:45159156 [GRCh38]
Chr14:45628359 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2678_2680dup (p.Asp893_Leu894insHis) duplication Fanconi anemia [RCV003522711] Chr14:45175431..45175432 [GRCh38]
Chr14:45644634..45644635 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2138T>C (p.Leu713Ser) single nucleotide variant Fanconi anemia [RCV003523907] Chr14:45170724 [GRCh38]
Chr14:45639927 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6010T>C (p.Ser2004Pro) single nucleotide variant Fanconi anemia [RCV003522712] Chr14:45199871 [GRCh38]
Chr14:45669074 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5166A>C (p.Pro1722=) single nucleotide variant Fanconi anemia [RCV003524036] Chr14:45189188 [GRCh38]
Chr14:45658391 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5750G>A (p.Ser1917Asn) single nucleotide variant Fanconi anemia [RCV003522774] Chr14:45198677 [GRCh38]
Chr14:45667880 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5147C>T (p.Ser1716Phe) single nucleotide variant Fanconi anemia [RCV003522831] Chr14:45189169 [GRCh38]
Chr14:45658372 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2262A>T (p.Arg754=) single nucleotide variant Fanconi anemia [RCV003524094] Chr14:45173156 [GRCh38]
Chr14:45642359 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.260C>T (p.Thr87Ile) single nucleotide variant Fanconi anemia [RCV003522456] Chr14:45136291 [GRCh38]
Chr14:45605494 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.306T>C (p.Ala102=) single nucleotide variant Fanconi anemia [RCV003522480]|Inborn genetic diseases [RCV004980870] Chr14:45136337 [GRCh38]
Chr14:45605540 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.182C>G (p.Ala61Gly) single nucleotide variant Fanconi anemia [RCV003852349] Chr14:45136213 [GRCh38]
Chr14:45605416 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5104G>C (p.Asp1702His) single nucleotide variant Fanconi anemia [RCV003636333] Chr14:45189126 [GRCh38]
Chr14:45658329 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.295T>C (p.Ser99Pro) single nucleotide variant Fanconi anemia [RCV003637027] Chr14:45136326 [GRCh38]
Chr14:45605529 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3603del (p.Phe1201fs) deletion Fanconi anemia [RCV003637230] Chr14:45176354 [GRCh38]
Chr14:45645557 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3063T>A (p.Leu1021=) single nucleotide variant Fanconi anemia [RCV003637390] Chr14:45175817 [GRCh38]
Chr14:45645020 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3625G>A (p.Val1209Ile) single nucleotide variant Fanconi anemia [RCV003635828] Chr14:45176379 [GRCh38]
Chr14:45645582 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.505A>G (p.Thr169Ala) single nucleotide variant Fanconi anemia [RCV003523771] Chr14:45136536 [GRCh38]
Chr14:45605739 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2705A>C (p.Asp902Ala) single nucleotide variant Fanconi anemia [RCV003636356] Chr14:45175459 [GRCh38]
Chr14:45644662 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6026C>A (p.Ser2009Tyr) single nucleotide variant Fanconi anemia [RCV003637052] Chr14:45199887 [GRCh38]
Chr14:45669090 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6137C>A (p.Ser2046Tyr) single nucleotide variant Fanconi anemia [RCV003637059] Chr14:45199998 [GRCh38]
Chr14:45669201 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.486A>G (p.Gln162=) single nucleotide variant Fanconi anemia [RCV003523783] Chr14:45136517 [GRCh38]
Chr14:45605720 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3191G>A (p.Ser1064Asn) single nucleotide variant Fanconi anemia [RCV003524342] Chr14:45175945 [GRCh38]
Chr14:45645148 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4222+15T>C single nucleotide variant Fanconi anemia [RCV003637253] Chr14:45176991 [GRCh38]
Chr14:45646194 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2436C>A (p.His812Gln) single nucleotide variant Fanconi anemia [RCV003637254] Chr14:45175190 [GRCh38]
Chr14:45644393 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.760G>A (p.Ala254Thr) single nucleotide variant Fanconi anemia [RCV003637406] Chr14:45148837 [GRCh38]
Chr14:45618040 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2283T>G (p.Leu761=) single nucleotide variant Fanconi anemia [RCV003637409] Chr14:45173177 [GRCh38]
Chr14:45642380 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1397-8A>G single nucleotide variant Fanconi anemia [RCV003636411] Chr14:45159088 [GRCh38]
Chr14:45628291 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.301G>T (p.Ala101Ser) single nucleotide variant Fanconi anemia [RCV003636422] Chr14:45136332 [GRCh38]
Chr14:45605535 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.443C>T (p.Thr148Ile) single nucleotide variant Fanconi anemia [RCV003636172] Chr14:45136474 [GRCh38]
Chr14:45605677 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2888T>C (p.Phe963Ser) single nucleotide variant Fanconi anemia [RCV003636076] Chr14:45175642 [GRCh38]
Chr14:45644845 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4954A>G (p.Met1652Val) single nucleotide variant Fanconi anemia [RCV003637116] Chr14:45188976 [GRCh38]
Chr14:45658179 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2967T>G (p.Asn989Lys) single nucleotide variant Fanconi anemia [RCV003637261] Chr14:45175721 [GRCh38]
Chr14:45644924 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter) single nucleotide variant Fanconi anemia [RCV003637395] Chr14:45183888 [GRCh38]
Chr14:45653091 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.5096A>G (p.Lys1699Arg) single nucleotide variant Fanconi anemia [RCV003637418] Chr14:45189118 [GRCh38]
Chr14:45658321 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1235T>C (p.Leu412Pro) single nucleotide variant Fanconi anemia [RCV003523879] Chr14:45154748 [GRCh38]
Chr14:45623951 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4617T>C (p.Asp1539=) single nucleotide variant Fanconi anemia [RCV003524398] Chr14:45185318 [GRCh38]
Chr14:45654521 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4386+13C>A single nucleotide variant Fanconi anemia [RCV003636228] Chr14:45181718 [GRCh38]
Chr14:45650921 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5340+10A>C single nucleotide variant Fanconi anemia [RCV003811697] Chr14:45189372 [GRCh38]
Chr14:45658575 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1582-16A>G single nucleotide variant Fanconi anemia [RCV003523402] Chr14:45164343 [GRCh38]
Chr14:45633546 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4780A>G (p.Ile1594Val) single nucleotide variant Fanconi anemia [RCV003524445] Chr14:45188802 [GRCh38]
Chr14:45658005 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3977C>T (p.Ser1326Phe) single nucleotide variant Fanconi anemia [RCV003636470] Chr14:45176731 [GRCh38]
Chr14:45645934 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2064G>C (p.Trp688Cys) single nucleotide variant Fanconi anemia [RCV003637127] Chr14:45170650 [GRCh38]
Chr14:45639853 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4594G>A (p.Asp1532Asn) single nucleotide variant Fanconi anemia [RCV003637284] Chr14:45185295 [GRCh38]
Chr14:45654498 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3584C>G (p.Thr1195Ser) single nucleotide variant Fanconi anemia [RCV003522113] Chr14:45176338 [GRCh38]
Chr14:45645541 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.991A>G (p.Lys331Glu) single nucleotide variant Fanconi anemia [RCV003523415] Chr14:45151469 [GRCh38]
Chr14:45620672 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5680A>G (p.Ile1894Val) single nucleotide variant Fanconi anemia [RCV003833552] Chr14:45196511 [GRCh38]
Chr14:45665714 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1931A>G (p.His644Arg) single nucleotide variant Fanconi anemia [RCV003636805] Chr14:45167092 [GRCh38]
Chr14:45636295 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.569C>G (p.Thr190Arg) single nucleotide variant Fanconi anemia [RCV003637139] Chr14:45137129 [GRCh38]
Chr14:45606332 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3436G>C (p.Asp1146His) single nucleotide variant Fanconi anemia [RCV003637292] Chr14:45176190 [GRCh38]
Chr14:45645393 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1310-14T>C single nucleotide variant Fanconi anemia [RCV003522130] Chr14:45155359 [GRCh38]
Chr14:45624562 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4223A>T (p.Asp1408Val) single nucleotide variant Fanconi anemia [RCV003522138] Chr14:45181430 [GRCh38]
Chr14:45650633 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5177C>G (p.Pro1726Arg) single nucleotide variant Fanconi anemia [RCV003522696] Chr14:45189199 [GRCh38]
Chr14:45658402 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3669C>T (p.Cys1223=) single nucleotide variant Fanconi anemia [RCV003636543] Chr14:45176423 [GRCh38]
Chr14:45645626 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4934G>C (p.Arg1645Pro) single nucleotide variant Fanconi anemia [RCV003637144] Chr14:45188956 [GRCh38]
Chr14:45658159 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4225G>A (p.Gly1409Arg) single nucleotide variant Fanconi anemia [RCV003636849] Chr14:45181432 [GRCh38]
Chr14:45650635 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4817T>C (p.Phe1606Ser) single nucleotide variant Fanconi anemia [RCV003522188] Chr14:45188839 [GRCh38]
Chr14:45658042 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter) single nucleotide variant Fanconi anemia [RCV003523534] Chr14:45175257 [GRCh38]
Chr14:45644460 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.818A>T (p.Asp273Val) single nucleotide variant Fanconi anemia [RCV003636861] Chr14:45148895 [GRCh38]
Chr14:45618098 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer) deletion Fanconi anemia [RCV003522829]|Spermatogenic failure 28 [RCV005003676] Chr14:45148941..45148957 [GRCh38]
Chr14:45618144..45618160 [GRCh37]
Chr14:14q21.2		 pathogenic|likely pathogenic
NM_020937.4(FANCM):c.1309+3C>G single nucleotide variant Fanconi anemia [RCV003852167] Chr14:45154825 [GRCh38]
Chr14:45624028 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4493C>G (p.Pro1498Arg) single nucleotide variant Fanconi anemia [RCV003636064]|Inborn genetic diseases [RCV004980896] Chr14:45183880 [GRCh38]
Chr14:45653083 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.4810G>T (p.Asp1604Tyr) single nucleotide variant Fanconi anemia [RCV003637170] Chr14:45188832 [GRCh38]
Chr14:45658035 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4999ATT[1] (p.Ile1668del) microsatellite Fanconi anemia [RCV003524095] Chr14:45189021..45189023 [GRCh38]
Chr14:45658224..45658226 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter) single nucleotide variant Fanconi anemia [RCV003636635] Chr14:45173149 [GRCh38]
Chr14:45642352 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4552C>G (p.Leu1518Val) single nucleotide variant Fanconi anemia [RCV003637345] Chr14:45185253 [GRCh38]
Chr14:45654456 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4174A>G (p.Lys1392Glu) single nucleotide variant Fanconi anemia [RCV003636931] Chr14:45176928 [GRCh38]
Chr14:45646131 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4780-4G>A single nucleotide variant Fanconi anemia [RCV003635570] Chr14:45188798 [GRCh38]
Chr14:45658001 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4812T>C (p.Asp1604=) single nucleotide variant Fanconi anemia [RCV003635577]|Inborn genetic diseases [RCV004980936] Chr14:45188834 [GRCh38]
Chr14:45658037 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5844G>C (p.Leu1948=) single nucleotide variant Fanconi anemia [RCV003636716] Chr14:45198771 [GRCh38]
Chr14:45667974 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.528C>A (p.Thr176=) single nucleotide variant Fanconi anemia [RCV003522426] Chr14:45137088 [GRCh38]
Chr14:45606291 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4780-20T>G single nucleotide variant Fanconi anemia [RCV003849789] Chr14:45188782 [GRCh38]
Chr14:45657985 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4721T>G (p.Met1574Arg) single nucleotide variant Fanconi anemia [RCV003636999] Chr14:45187829 [GRCh38]
Chr14:45657032 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4318-13T>G single nucleotide variant Fanconi anemia [RCV003637218] Chr14:45181624 [GRCh38]
Chr14:45650827 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6095T>A (p.Ile2032Lys) single nucleotide variant Fanconi anemia [RCV003636265] Chr14:45199956 [GRCh38]
Chr14:45669159 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.509-16T>C single nucleotide variant Fanconi anemia [RCV003636268] Chr14:45137053 [GRCh38]
Chr14:45606256 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4386+14A>G single nucleotide variant Fanconi anemia [RCV003637228] Chr14:45181719 [GRCh38]
Chr14:45650922 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3461G>T (p.Ser1154Ile) single nucleotide variant Fanconi anemia [RCV003637229] Chr14:45176215 [GRCh38]
Chr14:45645418 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4780-10T>C single nucleotide variant Fanconi anemia [RCV003837701] Chr14:45188792 [GRCh38]
Chr14:45657995 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1814A>G (p.Lys605Arg) single nucleotide variant Fanconi anemia [RCV003838366] Chr14:45166975 [GRCh38]
Chr14:45636178 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3460A>G (p.Ser1154Gly) single nucleotide variant Fanconi anemia [RCV003523246]|Inborn genetic diseases [RCV004978895]|not provided [RCV004775416] Chr14:45176214 [GRCh38]
Chr14:45645417 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5118T>C (p.Asn1706=) single nucleotide variant Fanconi anemia [RCV003636580] Chr14:45189140 [GRCh38]
Chr14:45658343 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2784G>T (p.Gln928His) single nucleotide variant Fanconi anemia [RCV003637069] Chr14:45175538 [GRCh38]
Chr14:45644741 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5233G>A (p.Val1745Ile) single nucleotide variant Fanconi anemia [RCV003636860] Chr14:45189255 [GRCh38]
Chr14:45658458 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4084G>T (p.Asp1362Tyr) single nucleotide variant Fanconi anemia [RCV003635871] Chr14:45176838 [GRCh38]
Chr14:45646041 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1184-14C>G single nucleotide variant Fanconi anemia [RCV003635895] Chr14:45154683 [GRCh38]
Chr14:45623886 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2201_2202del (p.Leu733_Ser734insTer) microsatellite Fanconi anemia [RCV003522160] Chr14:45173085..45173086 [GRCh38]
Chr14:45642288..45642289 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1358T>C (p.Leu453Ser) single nucleotide variant Fanconi anemia [RCV003522165] Chr14:45155421 [GRCh38]
Chr14:45624624 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5331T>C (p.Val1777=) single nucleotide variant Fanconi anemia [RCV003636988] Chr14:45189353 [GRCh38]
Chr14:45658556 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.682-5T>G single nucleotide variant Fanconi anemia [RCV003636992] Chr14:45140627 [GRCh38]
Chr14:45609830 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4901_4902delinsTT (p.Cys1634Phe) indel Fanconi anemia [RCV003635428] Chr14:45188923..45188924 [GRCh38]
Chr14:45658126..45658127 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1933G>C (p.Gly645Arg) single nucleotide variant Fanconi anemia [RCV003522276] Chr14:45167094 [GRCh38]
Chr14:45636297 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4516-16A>C single nucleotide variant Fanconi anemia [RCV003523558] Chr14:45185201 [GRCh38]
Chr14:45654404 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1396+9T>A single nucleotide variant Fanconi anemia [RCV003636630] Chr14:45155468 [GRCh38]
Chr14:45624671 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2754A>C (p.Lys918Asn) single nucleotide variant Fanconi anemia [RCV003522327] Chr14:45175508 [GRCh38]
Chr14:45644711 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2812G>T (p.Ala938Ser) single nucleotide variant Fanconi anemia [RCV003851653] Chr14:45175566 [GRCh38]
Chr14:45644769 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3394G>A (p.Glu1132Lys) single nucleotide variant Fanconi anemia [RCV003636649] Chr14:45176148 [GRCh38]
Chr14:45645351 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4277A>G (p.Lys1426Arg) single nucleotide variant Fanconi anemia [RCV003636654] Chr14:45181484 [GRCh38]
Chr14:45650687 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2167G>A (p.Glu723Lys) single nucleotide variant Fanconi anemia [RCV003636655] Chr14:45173061 [GRCh38]
Chr14:45642264 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3213T>C (p.Asn1071=) single nucleotide variant Fanconi anemia [RCV003813750] Chr14:45175967 [GRCh38]
Chr14:45645170 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4672+18C>A single nucleotide variant Fanconi anemia [RCV003635442] Chr14:45185391 [GRCh38]
Chr14:45654594 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.474_479del (p.Met158_Gly159del) deletion Fanconi anemia [RCV003636667] Chr14:45136503..45136508 [GRCh38]
Chr14:45605706..45605711 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1981T>G (p.Ser661Ala) single nucleotide variant Fanconi anemia [RCV003636674] Chr14:45167142 [GRCh38]
Chr14:45636345 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1310-20A>G single nucleotide variant Fanconi anemia [RCV003635808] Chr14:45155353 [GRCh38]
Chr14:45624556 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3639dup (p.Val1214fs) duplication Fanconi anemia [RCV003636106] Chr14:45176388..45176389 [GRCh38]
Chr14:45645591..45645592 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.1581+19G>T single nucleotide variant Fanconi anemia [RCV003522453] Chr14:45159299 [GRCh38]
Chr14:45628502 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5716+7A>G single nucleotide variant Fanconi anemia [RCV003635813] Chr14:45196554 [GRCh38]
Chr14:45665757 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4380A>T (p.Ile1460=) single nucleotide variant Fanconi anemia [RCV003636694] Chr14:45181699 [GRCh38]
Chr14:45650902 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2678A>G (p.Asp893Gly) single nucleotide variant Fanconi anemia [RCV003837522]|Hereditary cancer [RCV004701846]|not provided [RCV005000044] Chr14:45175432 [GRCh38]
Chr14:45644635 [GRCh37]
Chr14:14q21.2		 likely benign|uncertain significance
NM_020937.4(FANCM):c.3875G>A (p.Gly1292Glu) single nucleotide variant Fanconi anemia [RCV003636094]|not provided [RCV004775452] Chr14:45176629 [GRCh38]
Chr14:45645832 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1461T>C (p.Asp487=) single nucleotide variant Fanconi anemia [RCV003636059] Chr14:45159160 [GRCh38]
Chr14:45628363 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5717-19C>T single nucleotide variant Fanconi anemia [RCV003635537] Chr14:45198625 [GRCh38]
Chr14:45667828 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.160G>C (p.Asp54His) single nucleotide variant Fanconi anemia [RCV003523837] Chr14:45136191 [GRCh38]
Chr14:45605394 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2041T>C (p.Ser681Pro) single nucleotide variant Fanconi anemia [RCV003636048]|Inborn genetic diseases [RCV004980894] Chr14:45170627 [GRCh38]
Chr14:45639830 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5766_5769del (p.Thr1923fs) deletion Fanconi anemia [RCV003636713] Chr14:45198691..45198694 [GRCh38]
Chr14:45667894..45667897 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.993A>G (p.Lys331=) single nucleotide variant Fanconi anemia [RCV003636177] Chr14:45151471 [GRCh38]
Chr14:45620674 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.760G>T (p.Ala254Ser) single nucleotide variant Fanconi anemia [RCV003636206] Chr14:45148837 [GRCh38]
Chr14:45618040 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4672+7G>C single nucleotide variant Fanconi anemia [RCV003636085] Chr14:45185380 [GRCh38]
Chr14:45654583 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5504C>T (p.Ser1835Phe) single nucleotide variant Fanconi anemia [RCV003635579] Chr14:45196335 [GRCh38]
Chr14:45665538 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1771G>A (p.Glu591Lys) single nucleotide variant Fanconi anemia [RCV003635581] Chr14:45164548 [GRCh38]
Chr14:45633751 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4353T>A (p.His1451Gln) single nucleotide variant Fanconi anemia [RCV003522609] Chr14:45181672 [GRCh38]
Chr14:45650875 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5513G>A (p.Arg1838Lys) single nucleotide variant Fanconi anemia [RCV003635605] Chr14:45196344 [GRCh38]
Chr14:45665547 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3206T>C (p.Ile1069Thr) single nucleotide variant Fanconi anemia [RCV003636267] Chr14:45175960 [GRCh38]
Chr14:45645163 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4673-5C>T single nucleotide variant Fanconi anemia [RCV003636291] Chr14:45187776 [GRCh38]
Chr14:45656979 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2053T>C (p.Phe685Leu) single nucleotide variant Fanconi anemia [RCV003636758]|Inborn genetic diseases [RCV004980990] Chr14:45170639 [GRCh38]
Chr14:45639842 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1129A>G (p.Met377Val) single nucleotide variant Fanconi anemia [RCV003636760] Chr14:45153998 [GRCh38]
Chr14:45623201 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.389G>T (p.Arg130Leu) single nucleotide variant Fanconi anemia [RCV003636398] Chr14:45136420 [GRCh38]
Chr14:45605623 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5703C>T (p.Asp1901=) single nucleotide variant Fanconi anemia [RCV003636325] Chr14:45196534 [GRCh38]
Chr14:45665737 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1120T>C (p.Leu374=) single nucleotide variant Fanconi anemia [RCV003854883] Chr14:45153989 [GRCh38]
Chr14:45623192 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1713A>C (p.Val571=) single nucleotide variant Fanconi anemia [RCV003636360]|Inborn genetic diseases [RCV004980905] Chr14:45164490 [GRCh38]
Chr14:45633693 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4148A>G (p.Tyr1383Cys) single nucleotide variant Fanconi anemia [RCV003636383] Chr14:45176902 [GRCh38]
Chr14:45646105 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.228C>T (p.Cys76=) single nucleotide variant Fanconi anemia [RCV003636391] Chr14:45136259 [GRCh38]
Chr14:45605462 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2169A>G (p.Glu723=) single nucleotide variant Fanconi anemia [RCV003636778]|Inborn genetic diseases [RCV004980995] Chr14:45173063 [GRCh38]
Chr14:45642266 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6092A>G (p.Asp2031Gly) single nucleotide variant Fanconi anemia [RCV003636779] Chr14:45199953 [GRCh38]
Chr14:45669156 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.830T>C (p.Ile277Thr) single nucleotide variant Fanconi anemia [RCV003636787] Chr14:45148907 [GRCh38]
Chr14:45618110 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4608T>C (p.Asn1536=) single nucleotide variant Fanconi anemia [RCV003636516] Chr14:45185309 [GRCh38]
Chr14:45654512 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1285A>T (p.Asn429Tyr) single nucleotide variant Fanconi anemia [RCV003635692] Chr14:45154798 [GRCh38]
Chr14:45624001 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1183+8A>T single nucleotide variant Fanconi anemia [RCV003816589] Chr14:45154060 [GRCh38]
Chr14:45623263 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5070T>C (p.Val1690=) single nucleotide variant Fanconi anemia [RCV003635703] Chr14:45189092 [GRCh38]
Chr14:45658295 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3729T>G (p.Asp1243Glu) single nucleotide variant Fanconi anemia [RCV003635715] Chr14:45176483 [GRCh38]
Chr14:45645686 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4515+6C>A single nucleotide variant Fanconi anemia [RCV003637026] Chr14:45183908 [GRCh38]
Chr14:45653111 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2316+20T>A single nucleotide variant Fanconi anemia [RCV003636446] Chr14:45173230 [GRCh38]
Chr14:45642433 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.267C>T (p.Cys89=) single nucleotide variant Fanconi anemia [RCV003636819] Chr14:45136298 [GRCh38]
Chr14:45605501 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1675A>G (p.Ile559Val) single nucleotide variant Fanconi anemia [RCV003636930] Chr14:45164452 [GRCh38]
Chr14:45633655 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4620C>G (p.Ser1540=) single nucleotide variant Fanconi anemia [RCV003636833] Chr14:45185321 [GRCh38]
Chr14:45654524 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3177T>C (p.Tyr1059=) single nucleotide variant Fanconi anemia [RCV003636942] Chr14:45175931 [GRCh38]
Chr14:45645134 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2318G>A (p.Gly773Glu) single nucleotide variant Fanconi anemia [RCV003637053] Chr14:45175072 [GRCh38]
Chr14:45644275 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4088C>G (p.Ser1363Cys) single nucleotide variant Fanconi anemia [RCV003810650] Chr14:45176842 [GRCh38]
Chr14:45646045 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4672+10A>G single nucleotide variant Fanconi anemia [RCV003635741] Chr14:45185383 [GRCh38]
Chr14:45654586 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5045A>G (p.Asp1682Gly) single nucleotide variant Fanconi anemia [RCV003635756] Chr14:45189067 [GRCh38]
Chr14:45658270 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2317-6T>C single nucleotide variant Fanconi anemia [RCV003524188] Chr14:45175065 [GRCh38]
Chr14:45644268 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4536A>C (p.Leu1512Phe) single nucleotide variant Fanconi anemia [RCV003635673] Chr14:45185237 [GRCh38]
Chr14:45654440 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1607G>T (p.Gly536Val) single nucleotide variant Fanconi anemia [RCV003524475]|Inborn genetic diseases [RCV004980886] Chr14:45164384 [GRCh38]
Chr14:45633587 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1763T>G (p.Ile588Ser) single nucleotide variant Fanconi anemia [RCV003523427] Chr14:45164540 [GRCh38]
Chr14:45633743 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1309+6del deletion Fanconi anemia [RCV003635634] Chr14:45154827 [GRCh38]
Chr14:45624030 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1309+7T>A single nucleotide variant Fanconi anemia [RCV003635635] Chr14:45154829 [GRCh38]
Chr14:45624032 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3941C>T (p.Ala1314Val) single nucleotide variant Fanconi anemia [RCV003635758] Chr14:45176695 [GRCh38]
Chr14:45645898 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4779+18A>G single nucleotide variant Fanconi anemia [RCV003522398] Chr14:45187905 [GRCh38]
Chr14:45657108 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4360A>G (p.Lys1454Glu) single nucleotide variant Fanconi anemia [RCV003524248] Chr14:45181679 [GRCh38]
Chr14:45650882 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.660C>T (p.Leu220=) single nucleotide variant Fanconi anemia [RCV003523877] Chr14:45137220 [GRCh38]
Chr14:45606423 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4060_4064del (p.Arg1354fs) deletion Fanconi anemia [RCV003635669] Chr14:45176813..45176817 [GRCh38]
Chr14:45646016..45646020 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3058T>A (p.Leu1020Met) single nucleotide variant Fanconi anemia [RCV003523900]|Inborn genetic diseases [RCV004978899]|Spermatogenic failure 28 [RCV005012998]|not provided [RCV004763699] Chr14:45175812 [GRCh38]
Chr14:45645015 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4672+6T>A single nucleotide variant Fanconi anemia [RCV003635475] Chr14:45185379 [GRCh38]
Chr14:45654582 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4486A>G (p.Lys1496Glu) single nucleotide variant Fanconi anemia [RCV003524110]|not provided [RCV004763702] Chr14:45183873 [GRCh38]
Chr14:45653076 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4779+7A>T single nucleotide variant Fanconi anemia [RCV003849611] Chr14:45187894 [GRCh38]
Chr14:45657097 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.214A>G (p.Asn72Asp) single nucleotide variant Fanconi anemia [RCV003821679] Chr14:45136245 [GRCh38]
Chr14:45605448 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1646G>A (p.Gly549Asp) single nucleotide variant Fanconi anemia [RCV003637848] Chr14:45164423 [GRCh38]
Chr14:45633626 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1184-19C>T single nucleotide variant Fanconi anemia [RCV003637637] Chr14:45154678 [GRCh38]
Chr14:45623881 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5107C>T (p.His1703Tyr) single nucleotide variant Fanconi anemia [RCV003638038] Chr14:45189129 [GRCh38]
Chr14:45658332 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5327C>T (p.Pro1776Leu) single nucleotide variant Fanconi anemia [RCV003637719] Chr14:45189349 [GRCh38]
Chr14:45658552 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3985del (p.Ser1329fs) deletion Fanconi anemia [RCV003638072] Chr14:45176736 [GRCh38]
Chr14:45645939 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.821C>A (p.Ser274Tyr) single nucleotide variant Fanconi anemia [RCV003637870] Chr14:45148898 [GRCh38]
Chr14:45618101 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6038A>G (p.Gln2013Arg) single nucleotide variant Fanconi anemia [RCV003637958] Chr14:45199899 [GRCh38]
Chr14:45669102 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5875A>G (p.Ile1959Val) single nucleotide variant Fanconi anemia [RCV003637530] Chr14:45198802 [GRCh38]
Chr14:45668005 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1934G>A (p.Gly645Asp) single nucleotide variant Fanconi anemia [RCV003637987] Chr14:45167095 [GRCh38]
Chr14:45636298 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3626T>C (p.Val1209Ala) single nucleotide variant Fanconi anemia [RCV003638068] Chr14:45176380 [GRCh38]
Chr14:45645583 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3368T>C (p.Leu1123Pro) single nucleotide variant Fanconi anemia [RCV003842964] Chr14:45176122 [GRCh38]
Chr14:45645325 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5707_5708del (p.Glu1903fs) microsatellite Fanconi anemia [RCV003864387] Chr14:45196535..45196536 [GRCh38]
Chr14:45665738..45665739 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.23T>A (p.Leu8His) single nucleotide variant Fanconi anemia [RCV003842800] Chr14:45136054 [GRCh38]
Chr14:45605257 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.183G>A (p.Ala61=) single nucleotide variant Fanconi anemia [RCV003841805] Chr14:45136214 [GRCh38]
Chr14:45605417 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4029A>G (p.Lys1343=) single nucleotide variant Fanconi anemia [RCV003638025] Chr14:45176783 [GRCh38]
Chr14:45645986 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.46A>G (p.Ile16Val) single nucleotide variant Fanconi anemia [RCV003637518] Chr14:45136077 [GRCh38]
Chr14:45605280 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.69G>C (p.Pro23=) single nucleotide variant Fanconi anemia [RCV003637729] Chr14:45136100 [GRCh38]
Chr14:45605303 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5828A>G (p.Asp1943Gly) single nucleotide variant Fanconi anemia [RCV003637769] Chr14:45198755 [GRCh38]
Chr14:45667958 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5346T>C (p.Gly1782=) single nucleotide variant Fanconi anemia [RCV003847667] Chr14:45196177 [GRCh38]
Chr14:45665380 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2285T>G (p.Met762Arg) single nucleotide variant Fanconi anemia [RCV003637905] Chr14:45173179 [GRCh38]
Chr14:45642382 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.682-6dup duplication Fanconi anemia [RCV003871542] Chr14:45140625..45140626 [GRCh38]
Chr14:45609828..45609829 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.431A>C (p.Lys144Thr) single nucleotide variant Fanconi anemia [RCV003637964] Chr14:45136462 [GRCh38]
Chr14:45605665 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2868A>G (p.Ser956=) single nucleotide variant Fanconi anemia [RCV003858877] Chr14:45175622 [GRCh38]
Chr14:45644825 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2253C>A (p.His751Gln) single nucleotide variant Fanconi anemia [RCV003842762] Chr14:45173147 [GRCh38]
Chr14:45642350 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter) single nucleotide variant Fanconi anemia [RCV003870991] Chr14:45176729 [GRCh38]
Chr14:45645932 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3159A>G (p.Ser1053=) single nucleotide variant Fanconi anemia [RCV003637462] Chr14:45175913 [GRCh38]
Chr14:45645116 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4090A>G (p.Ser1364Gly) single nucleotide variant Fanconi anemia [RCV003637473] Chr14:45176844 [GRCh38]
Chr14:45646047 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.476G>C (p.Gly159Ala) single nucleotide variant Fanconi anemia [RCV003637860]|not provided [RCV004765941] Chr14:45136507 [GRCh38]
Chr14:45605710 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter) single nucleotide variant Fanconi anemia [RCV003853698] Chr14:45198742 [GRCh38]
Chr14:45667945 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.6061G>A (p.Glu2021Lys) single nucleotide variant Fanconi anemia [RCV003869944] Chr14:45199922 [GRCh38]
Chr14:45669125 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4163T>C (p.Leu1388Pro) single nucleotide variant Fanconi anemia [RCV003867729] Chr14:45176917 [GRCh38]
Chr14:45646120 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2089A>G (p.Ser697Gly) single nucleotide variant Fanconi anemia [RCV003865795] Chr14:45170675 [GRCh38]
Chr14:45639878 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.918+12_918+13del deletion Fanconi anemia [RCV003637447] Chr14:45149004..45149005 [GRCh38]
Chr14:45618207..45618208 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2529T>C (p.Thr843=) single nucleotide variant Fanconi anemia [RCV003637500] Chr14:45175283 [GRCh38]
Chr14:45644486 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4673-10C>T single nucleotide variant Fanconi anemia [RCV003637553] Chr14:45187771 [GRCh38]
Chr14:45656974 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5277C>G (p.Thr1759=) single nucleotide variant Fanconi anemia [RCV003637562] Chr14:45189299 [GRCh38]
Chr14:45658502 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.681+20G>T single nucleotide variant Fanconi anemia [RCV003637584] Chr14:45137261 [GRCh38]
Chr14:45606464 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4223A>G (p.Asp1408Gly) single nucleotide variant Fanconi anemia [RCV003637603] Chr14:45181430 [GRCh38]
Chr14:45650633 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5612T>C (p.Met1871Thr) single nucleotide variant Fanconi anemia [RCV003637594] Chr14:45196443 [GRCh38]
Chr14:45665646 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2108dup (p.Thr704fs) duplication Fanconi anemia [RCV003637638] Chr14:45170693..45170694 [GRCh38]
Chr14:45639896..45639897 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2266C>A (p.Arg756Ser) single nucleotide variant Fanconi anemia [RCV003637660]|Inborn genetic diseases [RCV004980918] Chr14:45173160 [GRCh38]
Chr14:45642363 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4469A>G (p.Asn1490Ser) single nucleotide variant Fanconi anemia [RCV003866111] Chr14:45183856 [GRCh38]
Chr14:45653059 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5409T>A (p.Ala1803=) single nucleotide variant Fanconi anemia [RCV003637796] Chr14:45196240 [GRCh38]
Chr14:45665443 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3788A>G (p.Tyr1263Cys) single nucleotide variant Fanconi anemia [RCV003822090] Chr14:45176542 [GRCh38]
Chr14:45645745 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter) single nucleotide variant Fanconi anemia [RCV003822247] Chr14:45196361 [GRCh38]
Chr14:45665564 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.4645G>A (p.Glu1549Lys) single nucleotide variant Fanconi anemia [RCV003637806] Chr14:45185346 [GRCh38]
Chr14:45654549 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4661A>G (p.Gln1554Arg) single nucleotide variant Fanconi anemia [RCV003637977] Chr14:45185362 [GRCh38]
Chr14:45654565 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3654G>C (p.Glu1218Asp) single nucleotide variant Fanconi anemia [RCV003843495] Chr14:45176408 [GRCh38]
Chr14:45645611 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2107A>T (p.Ile703Leu) single nucleotide variant Fanconi anemia [RCV003822877] Chr14:45170693 [GRCh38]
Chr14:45639896 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.577G>T (p.Val193Phe) single nucleotide variant Fanconi anemia [RCV003822864] Chr14:45137137 [GRCh38]
Chr14:45606340 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2982dup (p.Ser995fs) duplication Fanconi anemia [RCV003637933] Chr14:45175735..45175736 [GRCh38]
Chr14:45644938..45644939 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.3061C>T (p.Leu1021Phe) single nucleotide variant Fanconi anemia [RCV003638045] Chr14:45175815 [GRCh38]
Chr14:45645018 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1115A>C (p.Glu372Ala) single nucleotide variant Fanconi anemia [RCV003638031] Chr14:45153984 [GRCh38]
Chr14:45623187 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3382A>T (p.Thr1128Ser) single nucleotide variant Fanconi anemia [RCV003820017] Chr14:45176136 [GRCh38]
Chr14:45645339 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.759+19C>T single nucleotide variant Fanconi anemia [RCV003638103] Chr14:45140728 [GRCh38]
Chr14:45609931 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6135A>G (p.Lys2045=) single nucleotide variant Fanconi anemia [RCV003842216] Chr14:45199996 [GRCh38]
Chr14:45669199 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3810T>C (p.Ser1270=) single nucleotide variant FANCM-related disorder [RCV004540854] Chr14:45176564 [GRCh38]
Chr14:45645767 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3141G>A (p.Gln1047=) single nucleotide variant FANCM-related disorder [RCV004544042] Chr14:45175895 [GRCh38]
Chr14:45645098 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3879T>G (p.Thr1293=) single nucleotide variant FANCM-related disorder [RCV004540743] Chr14:45176633 [GRCh38]
Chr14:45645836 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4623A>G (p.Ser1541=) single nucleotide variant FANCM-related disorder [RCV004539262] Chr14:45185324 [GRCh38]
Chr14:45654527 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2777_2778del (p.Glu926fs) microsatellite not provided [RCV003887684] Chr14:45175529..45175530 [GRCh38]
Chr14:45644732..45644733 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.2002+11T>C single nucleotide variant FANCM-related disorder [RCV004545519] Chr14:45167174 [GRCh38]
Chr14:45636377 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5151G>A (p.Lys1717=) single nucleotide variant FANCM-related disorder [RCV004540845] Chr14:45189173 [GRCh38]
Chr14:45658376 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1954C>T (p.Pro652Ser) single nucleotide variant Inborn genetic diseases [RCV004383750] Chr14:45167115 [GRCh38]
Chr14:45636318 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2905A>G (p.Ile969Val) single nucleotide variant Inborn genetic diseases [RCV004383753] Chr14:45175659 [GRCh38]
Chr14:45644862 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4438C>T (p.Gln1480Ter) single nucleotide variant not provided [RCV004588850] Chr14:45183825 [GRCh38]
Chr14:45653028 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4205C>T (p.Ser1402Phe) single nucleotide variant not provided [RCV004590757] Chr14:45176959 [GRCh38]
Chr14:45646162 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2161G>C (p.Ala721Pro) single nucleotide variant Inborn genetic diseases [RCV004383751] Chr14:45173055 [GRCh38]
Chr14:45642258 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1550C>A (p.Thr517Lys) single nucleotide variant Inborn genetic diseases [RCV004383747] Chr14:45159249 [GRCh38]
Chr14:45628452 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4117T>G (p.Phe1373Val) single nucleotide variant Inborn genetic diseases [RCV004383754] Chr14:45176871 [GRCh38]
Chr14:45646074 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45667837)_(45669211_?)del deletion Fanconi anemia [RCV004578062] Chr14:45667837..45669211 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.1980A>C (p.Ser660=) single nucleotide variant not provided [RCV004575974] Chr14:45167141 [GRCh38]
Chr14:45636344 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.746G>A (p.Gly249Asp) single nucleotide variant not provided [RCV004592204] Chr14:45140696 [GRCh38]
Chr14:45609899 [GRCh37]
Chr14:14q21.2		 uncertain significance
NC_000014.8:g.(?_45618020)_(45669211_?)dup duplication Fanconi anemia [RCV004578064] Chr14:45618020..45669211 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3732A>T (p.Glu1244Asp) single nucleotide variant Inborn genetic diseases [RCV004620792] Chr14:45176486 [GRCh38]
Chr14:45645689 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1300A>C (p.Ile434Leu) single nucleotide variant Inborn genetic diseases [RCV004620793] Chr14:45154813 [GRCh38]
Chr14:45624016 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2215_2216del (p.Trp739fs) microsatellite See cases [RCV004579612] Chr14:45173107..45173108 [GRCh38]
Chr14:45642310..45642311 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4976A>G (p.His1659Arg) single nucleotide variant not provided [RCV004590823] Chr14:45188998 [GRCh38]
Chr14:45658201 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3314G>T (p.Ser1105Ile) single nucleotide variant not provided [RCV004592118] Chr14:45176068 [GRCh38]
Chr14:45645271 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.781A>G (p.Asn261Asp) single nucleotide variant not provided [RCV004592027] Chr14:45148858 [GRCh38]
Chr14:45618061 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1820G>A (p.Ser607Asn) single nucleotide variant Inborn genetic diseases [RCV004620794] Chr14:45166981 [GRCh38]
Chr14:45636184 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5528T>C (p.Leu1843Ser) single nucleotide variant not provided [RCV004778974] Chr14:45196359 [GRCh38]
Chr14:45665562 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2662A>T (p.Asn888Tyr) single nucleotide variant not provided [RCV004762669]   uncertain significance
NM_020937.4(FANCM):c.1993T>G (p.Tyr665Asp) single nucleotide variant not provided [RCV004780030] Chr14:45167154 [GRCh38]
Chr14:45636357 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.715T>G (p.Phe239Val) single nucleotide variant not provided [RCV004780028] Chr14:45140665 [GRCh38]
Chr14:45609868 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1618C>G (p.Leu540Val) single nucleotide variant not provided [RCV004810328] Chr14:45164395 [GRCh38]
Chr14:45633598 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.197G>A (p.Arg66Gln) single nucleotide variant not provided [RCV004770899] Chr14:45136228 [GRCh38]
Chr14:45605431 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2161-1G>A single nucleotide variant not provided [RCV004722190] Chr14:45173054 [GRCh38]
Chr14:45642257 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.3289A>C (p.Asn1097His) single nucleotide variant not provided [RCV004729221] Chr14:45176043 [GRCh38]
Chr14:45645246 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2316+5G>C single nucleotide variant not provided [RCV004770955] Chr14:45173215 [GRCh38]
Chr14:45642418 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3247T>G (p.Cys1083Gly) single nucleotide variant not provided [RCV004724075] Chr14:45176001 [GRCh38]
Chr14:45645204 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1356A>T (p.Lys452Asn) single nucleotide variant not provided [RCV004767780] Chr14:45155419 [GRCh38]
Chr14:45624622 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4852T>C (p.Ser1618Pro) single nucleotide variant not provided [RCV004729555] Chr14:45188874 [GRCh38]
Chr14:45658077 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.860A>G (p.Glu287Gly) single nucleotide variant not provided [RCV004729592] Chr14:45148937 [GRCh38]
Chr14:45618140 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3849A>G (p.Arg1283=) single nucleotide variant not provided [RCV004811462] Chr14:45176603 [GRCh38]
Chr14:45645806 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1485G>A (p.Met495Ile) single nucleotide variant not provided [RCV004773468] Chr14:45159184 [GRCh38]
Chr14:45628387 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6094A>G (p.Ile2032Val) single nucleotide variant not provided [RCV004761404]   uncertain significance
NM_020937.4(FANCM):c.2827del (p.Asp943fs) deletion not provided [RCV004811292] Chr14:45175581 [GRCh38]
Chr14:45644784 [GRCh37]
Chr14:14q21.2		 pathogenic
NM_020937.4(FANCM):c.270A>G (p.Pro90=) single nucleotide variant not provided [RCV004811356] Chr14:45136301 [GRCh38]
Chr14:45605504 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3279T>C (p.Asn1093=) single nucleotide variant not provided [RCV004811424] Chr14:45176033 [GRCh38]
Chr14:45645236 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5329G>A (p.Val1777Ile) single nucleotide variant not provided [RCV004769067] Chr14:45189351 [GRCh38]
Chr14:45658554 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3841A>G (p.Ile1281Val) single nucleotide variant not provided [RCV004769341] Chr14:45176595 [GRCh38]
Chr14:45645798 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2111C>T (p.Thr704Ile) single nucleotide variant not provided [RCV004762405]   uncertain significance
NM_020937.4(FANCM):c.5267T>C (p.Val1756Ala) single nucleotide variant not provided [RCV004762489]   uncertain significance
NM_020937.4(FANCM):c.1405_1406del (p.Thr469fs) microsatellite FANCM-related disorder [RCV004729792] Chr14:45159102..45159103 [GRCh38]
Chr14:45628305..45628306 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.1901A>G (p.Asn634Ser) single nucleotide variant not provided [RCV004762668]   uncertain significance
NM_020937.4(FANCM):c.5053G>A (p.Glu1685Lys) single nucleotide variant not provided [RCV004774952] Chr14:45189075 [GRCh38]
Chr14:45658278 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5651T>A (p.Ile1884Asn) single nucleotide variant not provided [RCV004763130]   uncertain significance
NM_020937.4(FANCM):c.2461A>T (p.Ile821Leu) single nucleotide variant not provided [RCV004763147]   uncertain significance
NM_020937.4(FANCM):c.5042A>C (p.Asn1681Thr) single nucleotide variant not provided [RCV004775742] Chr14:45189064 [GRCh38]
Chr14:45658267 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2838_2840dup (p.Asn947_Ser948insAsn) duplication not provided [RCV004762452]   uncertain significance
NM_020937.4(FANCM):c.4010T>C (p.Met1337Thr) single nucleotide variant not provided [RCV004763805]   uncertain significance
NM_020937.4(FANCM):c.5915C>T (p.Ala1972Val) single nucleotide variant not provided [RCV004763812]   uncertain significance
NM_020937.4(FANCM):c.652A>G (p.Lys218Glu) single nucleotide variant not provided [RCV004772495] Chr14:45137212 [GRCh38]
Chr14:45606415 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5959dup (p.Ala1987fs) duplication not provided [RCV004772496] Chr14:45198885..45198886 [GRCh38]
Chr14:45668088..45668089 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3742C>T (p.His1248Tyr) single nucleotide variant not provided [RCV004772485] Chr14:45176496 [GRCh38]
Chr14:45645699 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3290A>G (p.Asn1097Ser) single nucleotide variant not provided [RCV004763133]   uncertain significance
NM_020937.4(FANCM):c.5822C>A (p.Thr1941Asn) single nucleotide variant Inborn genetic diseases [RCV004981202]|not provided [RCV004764126]   uncertain significance
NM_020937.4(FANCM):c.1822A>C (p.Ile608Leu) single nucleotide variant not provided [RCV004763161]   uncertain significance
NM_020937.4(FANCM):c.6009-6T>C single nucleotide variant not provided [RCV004770883] Chr14:45199864 [GRCh38]
Chr14:45669067 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.31A>T (p.Thr11Ser) single nucleotide variant not provided [RCV004771276] Chr14:45136062 [GRCh38]
Chr14:45605265 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2715A>T (p.Glu905Asp) single nucleotide variant not provided [RCV004776146] Chr14:45175469 [GRCh38]
Chr14:45644672 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4387-13C>G single nucleotide variant not provided [RCV004761687]   uncertain significance
NM_020937.4(FANCM):c.5060A>G (p.Asn1687Ser) single nucleotide variant not provided [RCV004761700]   uncertain significance
NM_020937.4(FANCM):c.1988T>A (p.Phe663Tyr) single nucleotide variant not provided [RCV004769887] Chr14:45167149 [GRCh38]
Chr14:45636352 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4013G>T (p.Ser1338Ile) single nucleotide variant not provided [RCV004775113] Chr14:45176767 [GRCh38]
Chr14:45645970 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6097_6098del (p.Gln2033fs) deletion not provided [RCV004772226] Chr14:45199957..45199958 [GRCh38]
Chr14:45669160..45669161 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2863G>C (p.Val955Leu) single nucleotide variant not provided [RCV004775248] Chr14:45175617 [GRCh38]
Chr14:45644820 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1463G>C (p.Ser488Thr) single nucleotide variant not provided [RCV004770887] Chr14:45159162 [GRCh38]
Chr14:45628365 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5700G>C (p.Lys1900Asn) single nucleotide variant not provided [RCV004775719] Chr14:45196531 [GRCh38]
Chr14:45665734 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5866A>G (p.Asn1956Asp) single nucleotide variant not provided [RCV004771213] Chr14:45198793 [GRCh38]
Chr14:45667996 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4607A>G (p.Asn1536Ser) single nucleotide variant not provided [RCV004763984]   uncertain significance
NM_020937.4(FANCM):c.4894G>T (p.Asp1632Tyr) single nucleotide variant not provided [RCV004766105] Chr14:45188916 [GRCh38]
Chr14:45658119 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3577C>G (p.Gln1193Glu) single nucleotide variant not provided [RCV004767978] Chr14:45176331 [GRCh38]
Chr14:45645534 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1424A>G (p.Asp475Gly) single nucleotide variant not provided [RCV004773394] Chr14:45159123 [GRCh38]
Chr14:45628326 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5161A>G (p.Thr1721Ala) single nucleotide variant not provided [RCV004761246]   uncertain significance
NM_020937.4(FANCM):c.53G>C (p.Arg18Pro) single nucleotide variant not provided [RCV004761375]   uncertain significance
NM_020937.4(FANCM):c.4866A>C (p.Glu1622Asp) single nucleotide variant not provided [RCV004761689]   uncertain significance
NM_020937.4(FANCM):c.4001A>G (p.Lys1334Arg) single nucleotide variant not provided [RCV004769480] Chr14:45176755 [GRCh38]
Chr14:45645958 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2177C>A (p.Thr726Asn) single nucleotide variant Spermatogenic failure 28 [RCV005005636] Chr14:45173071 [GRCh38]
Chr14:45642274 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1102T>C (p.Tyr368His) single nucleotide variant not provided [RCV004999011] Chr14:45153971 [GRCh38]
Chr14:45623174 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3349G>A (p.Asp1117Asn) single nucleotide variant not provided [RCV004999019] Chr14:45176103 [GRCh38]
Chr14:45645306 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4189A>T (p.Met1397Leu) single nucleotide variant not provided [RCV004999023] Chr14:45176943 [GRCh38]
Chr14:45646146 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4210C>T (p.His1404Tyr) single nucleotide variant not provided [RCV004999024] Chr14:45176964 [GRCh38]
Chr14:45646167 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.762T>G (p.Ala254=) single nucleotide variant not provided [RCV004999028] Chr14:45148839 [GRCh38]
Chr14:45618042 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.919-6T>A single nucleotide variant not provided [RCV004999031] Chr14:45151391 [GRCh38]
Chr14:45620594 [GRCh37]
Chr14:14q21.2		 uncertain significance
GRCh37/hg19 14q21.2(chr14:45531347-46471649)x3 copy number gain not provided [RCV004819606] Chr14:45531347..46471649 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.20C>A (p.Thr7Lys) single nucleotide variant Inborn genetic diseases [RCV004974791]|not provided [RCV005000605] Chr14:45136051 [GRCh38]
Chr14:45605254 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.616G>A (p.Ala206Thr) single nucleotide variant Inborn genetic diseases [RCV004974769] Chr14:45137176 [GRCh38]
Chr14:45606379 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5625C>G (p.Val1875=) single nucleotide variant Inborn genetic diseases [RCV004974771] Chr14:45196456 [GRCh38]
Chr14:45665659 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1504A>G (p.Ile502Val) single nucleotide variant Inborn genetic diseases [RCV004974772] Chr14:45159203 [GRCh38]
Chr14:45628406 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1614C>G (p.Asn538Lys) single nucleotide variant Inborn genetic diseases [RCV004974774] Chr14:45164391 [GRCh38]
Chr14:45633594 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3295C>A (p.Arg1099Ser) single nucleotide variant Inborn genetic diseases [RCV004974775] Chr14:45176049 [GRCh38]
Chr14:45645252 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.683T>A (p.Val228Asp) single nucleotide variant Inborn genetic diseases [RCV004974776] Chr14:45140633 [GRCh38]
Chr14:45609836 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4644T>C (p.Asp1548=) single nucleotide variant Inborn genetic diseases [RCV004974777] Chr14:45185345 [GRCh38]
Chr14:45654548 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.571C>T (p.Pro191Ser) single nucleotide variant Inborn genetic diseases [RCV004974780] Chr14:45137131 [GRCh38]
Chr14:45606334 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5827G>C (p.Asp1943His) single nucleotide variant Inborn genetic diseases [RCV004974781] Chr14:45198754 [GRCh38]
Chr14:45667957 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3672T>A (p.Ser1224=) single nucleotide variant Inborn genetic diseases [RCV004974782] Chr14:45176426 [GRCh38]
Chr14:45645629 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2713G>A (p.Glu905Lys) single nucleotide variant Inborn genetic diseases [RCV004974786] Chr14:45175467 [GRCh38]
Chr14:45644670 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1778G>T (p.Arg593Leu) single nucleotide variant Inborn genetic diseases [RCV004974792] Chr14:45164555 [GRCh38]
Chr14:45633758 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5766G>A (p.Leu1922=) single nucleotide variant Inborn genetic diseases [RCV004974793] Chr14:45198693 [GRCh38]
Chr14:45667896 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3705A>T (p.Gly1235=) single nucleotide variant Inborn genetic diseases [RCV004974801] Chr14:45176459 [GRCh38]
Chr14:45645662 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1023T>C (p.Phe341=) single nucleotide variant Inborn genetic diseases [RCV004974803] Chr14:45151501 [GRCh38]
Chr14:45620704 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4730A>T (p.Lys1577Met) single nucleotide variant Inborn genetic diseases [RCV004974804] Chr14:45187838 [GRCh38]
Chr14:45657041 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3757A>G (p.Asn1253Asp) single nucleotide variant Inborn genetic diseases [RCV004974805] Chr14:45176511 [GRCh38]
Chr14:45645714 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1592A>T (p.Gln531Leu) single nucleotide variant Inborn genetic diseases [RCV004974814] Chr14:45164369 [GRCh38]
Chr14:45633572 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4015A>G (p.Thr1339Ala) single nucleotide variant Inborn genetic diseases [RCV004974815] Chr14:45176769 [GRCh38]
Chr14:45645972 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5642T>A (p.Ile1881Asn) single nucleotide variant Inborn genetic diseases [RCV004974816] Chr14:45196473 [GRCh38]
Chr14:45665676 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.463T>C (p.Tyr155His) single nucleotide variant Inborn genetic diseases [RCV004974818] Chr14:45136494 [GRCh38]
Chr14:45605697 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.850A>G (p.Arg284Gly) single nucleotide variant Inborn genetic diseases [RCV004974819] Chr14:45148927 [GRCh38]
Chr14:45618130 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4884C>T (p.Asn1628=) single nucleotide variant Inborn genetic diseases [RCV004974825] Chr14:45188906 [GRCh38]
Chr14:45658109 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4996A>G (p.Arg1666Gly) single nucleotide variant Inborn genetic diseases [RCV004974826] Chr14:45189018 [GRCh38]
Chr14:45658221 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6142A>G (p.Ile2048Val) single nucleotide variant Inborn genetic diseases [RCV004974853] Chr14:45200003 [GRCh38]
Chr14:45669206 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6142A>T (p.Ile2048Leu) single nucleotide variant Inborn genetic diseases [RCV004974852] Chr14:45200003 [GRCh38]
Chr14:45669206 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5025G>C (p.Glu1675Asp) single nucleotide variant Inborn genetic diseases [RCV004974847] Chr14:45189047 [GRCh38]
Chr14:45658250 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6107C>T (p.Pro2036Leu) single nucleotide variant Inborn genetic diseases [RCV004974840] Chr14:45199968 [GRCh38]
Chr14:45669171 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4381A>G (p.Asn1461Asp) single nucleotide variant Inborn genetic diseases [RCV004974839] Chr14:45181700 [GRCh38]
Chr14:45650903 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.809G>C (p.Arg270Pro) single nucleotide variant Spermatogenic failure 28 [RCV005007187] Chr14:45148886 [GRCh38]
Chr14:45618089 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3338A>G (p.Glu1113Gly) single nucleotide variant Spermatogenic failure 28 [RCV005007194] Chr14:45176092 [GRCh38]
Chr14:45645295 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3677del (p.Asp1226fs) deletion Spermatogenic failure 28 [RCV005007196] Chr14:45176431 [GRCh38]
Chr14:45645634 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4336G>A (p.Val1446Ile) single nucleotide variant Spermatogenic failure 28 [RCV005007197] Chr14:45181655 [GRCh38]
Chr14:45650858 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3872G>T (p.Ser1291Ile) single nucleotide variant Inborn genetic diseases [RCV004977683] Chr14:45176626 [GRCh38]
Chr14:45645829 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5509C>G (p.Leu1837Val) single nucleotide variant Inborn genetic diseases [RCV004977684] Chr14:45196340 [GRCh38]
Chr14:45665543 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4264A>C (p.Ile1422Leu) single nucleotide variant Inborn genetic diseases [RCV004977687] Chr14:45181471 [GRCh38]
Chr14:45650674 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3865T>C (p.Phe1289Leu) single nucleotide variant Inborn genetic diseases [RCV004977689] Chr14:45176619 [GRCh38]
Chr14:45645822 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1524T>C (p.Phe508=) single nucleotide variant Inborn genetic diseases [RCV004977690] Chr14:45159223 [GRCh38]
Chr14:45628426 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4466G>A (p.Gly1489Glu) single nucleotide variant Inborn genetic diseases [RCV004977697] Chr14:45183853 [GRCh38]
Chr14:45653056 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2777A>C (p.Glu926Ala) single nucleotide variant Inborn genetic diseases [RCV004977700] Chr14:45175531 [GRCh38]
Chr14:45644734 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.755T>C (p.Ile252Thr) single nucleotide variant Inborn genetic diseases [RCV004977701] Chr14:45140705 [GRCh38]
Chr14:45609908 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2665A>G (p.Ile889Val) single nucleotide variant Inborn genetic diseases [RCV004977702] Chr14:45175419 [GRCh38]
Chr14:45644622 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3583A>T (p.Thr1195Ser) single nucleotide variant Inborn genetic diseases [RCV004977703] Chr14:45176337 [GRCh38]
Chr14:45645540 [GRCh37]
Chr14:14q21.2		 uncertain significance
GRCh37/hg19 14q21.2(chr14:45169408-45871610)x1 copy number loss not provided [RCV004819864] Chr14:45169408..45871610 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4629T>A (p.Leu1543=) single nucleotide variant Inborn genetic diseases [RCV004977694] Chr14:45185330 [GRCh38]
Chr14:45654533 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.681+4A>T single nucleotide variant Spermatogenic failure 28 [RCV005005632] Chr14:45137245 [GRCh38]
Chr14:45606448 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1408A>G (p.Thr470Ala) single nucleotide variant Spermatogenic failure 28 [RCV005005634] Chr14:45159107 [GRCh38]
Chr14:45628310 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3639A>G (p.Lys1213=) single nucleotide variant Inborn genetic diseases [RCV004977691] Chr14:45176393 [GRCh38]
Chr14:45645596 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1759A>G (p.Ile587Val) single nucleotide variant Spermatogenic failure 28 [RCV005005635] Chr14:45164536 [GRCh38]
Chr14:45633739 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1310-17T>G single nucleotide variant Spermatogenic failure 28 [RCV005005633] Chr14:45155356 [GRCh38]
Chr14:45624559 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.906G>C (p.Lys302Asn) single nucleotide variant Inborn genetic diseases [RCV004974773] Chr14:45148983 [GRCh38]
Chr14:45618186 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4010T>G (p.Met1337Arg) single nucleotide variant Inborn genetic diseases [RCV004974778] Chr14:45176764 [GRCh38]
Chr14:45645967 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1057CAA[1] (p.Gln354del) microsatellite Spermatogenic failure 28 [RCV005007189] Chr14:45153925..45153927 [GRCh38]
Chr14:45623128..45623130 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1618C>A (p.Leu540Met) single nucleotide variant Spermatogenic failure 28 [RCV005007190] Chr14:45164395 [GRCh38]
Chr14:45633598 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2956del (p.Val986fs) deletion Spermatogenic failure 28 [RCV005007193] Chr14:45175709 [GRCh38]
Chr14:45644912 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.4626A>C (p.Leu1542Phe) single nucleotide variant Inborn genetic diseases [RCV004974785] Chr14:45185327 [GRCh38]
Chr14:45654530 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1534G>C (p.Ala512Pro) single nucleotide variant Inborn genetic diseases [RCV004974790] Chr14:45159233 [GRCh38]
Chr14:45628436 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3541G>A (p.Glu1181Lys) single nucleotide variant Inborn genetic diseases [RCV004974798] Chr14:45176295 [GRCh38]
Chr14:45645498 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.222G>A (p.Gly74=) single nucleotide variant Inborn genetic diseases [RCV004974800] Chr14:45136253 [GRCh38]
Chr14:45605456 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5278A>G (p.Thr1760Ala) single nucleotide variant Inborn genetic diseases [RCV004974811] Chr14:45189300 [GRCh38]
Chr14:45658503 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1214G>T (p.Arg405Leu) single nucleotide variant not provided [RCV004823391] Chr14:45154727 [GRCh38]
Chr14:45623930 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6062A>G (p.Glu2021Gly) single nucleotide variant Inborn genetic diseases [RCV004974851] Chr14:45199923 [GRCh38]
Chr14:45669126 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3319G>C (p.Ala1107Pro) single nucleotide variant Inborn genetic diseases [RCV004974849] Chr14:45176073 [GRCh38]
Chr14:45645276 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.613G>T (p.Ala205Ser) single nucleotide variant Inborn genetic diseases [RCV004974846] Chr14:45137173 [GRCh38]
Chr14:45606376 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6079C>T (p.His2027Tyr) single nucleotide variant Inborn genetic diseases [RCV004974841] Chr14:45199940 [GRCh38]
Chr14:45669143 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4640A>C (p.Asn1547Thr) single nucleotide variant Inborn genetic diseases [RCV004974837] Chr14:45185341 [GRCh38]
Chr14:45654544 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3208C>A (p.Pro1070Thr) single nucleotide variant Inborn genetic diseases [RCV004974788] Chr14:45175962 [GRCh38]
Chr14:45645165 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5262T>C (p.Asn1754=) single nucleotide variant Inborn genetic diseases [RCV004974799] Chr14:45189284 [GRCh38]
Chr14:45658487 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2670T>G (p.Phe890Leu) single nucleotide variant Inborn genetic diseases [RCV004974813] Chr14:45175424 [GRCh38]
Chr14:45644627 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4547C>T (p.Ala1516Val) single nucleotide variant Inborn genetic diseases [RCV004974817] Chr14:45185248 [GRCh38]
Chr14:45654451 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3969T>C (p.Pro1323=) single nucleotide variant Inborn genetic diseases [RCV004974820] Chr14:45176723 [GRCh38]
Chr14:45645926 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1006C>T (p.Leu336=) single nucleotide variant Inborn genetic diseases [RCV004974822] Chr14:45151484 [GRCh38]
Chr14:45620687 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.1244A>T (p.His415Leu) single nucleotide variant Inborn genetic diseases [RCV004974833] Chr14:45154757 [GRCh38]
Chr14:45623960 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4408G>A (p.Glu1470Lys) single nucleotide variant Inborn genetic diseases [RCV004974842] Chr14:45183795 [GRCh38]
Chr14:45652998 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2754A>G (p.Lys918=) single nucleotide variant Inborn genetic diseases [RCV004974838] Chr14:45175508 [GRCh38]
Chr14:45644711 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.6059A>G (p.Glu2020Gly) single nucleotide variant Inborn genetic diseases [RCV004974836] Chr14:45199920 [GRCh38]
Chr14:45669123 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.165T>C (p.Asp55=) single nucleotide variant Inborn genetic diseases [RCV004974834] Chr14:45136196 [GRCh38]
Chr14:45605399 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2394G>C (p.Arg798Ser) single nucleotide variant Spermatogenic failure 28 [RCV005007191] Chr14:45175148 [GRCh38]
Chr14:45644351 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3644A>C (p.Lys1215Thr) single nucleotide variant Spermatogenic failure 28 [RCV005007195] Chr14:45176398 [GRCh38]
Chr14:45645601 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4637_4638insCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Leu1546delinsPheIleThrTer) insertion Spermatogenic failure 28 [RCV005007198] Chr14:45185338..45185339 [GRCh38]
Chr14:45654541..45654542 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.1230G>T (p.Met410Ile) single nucleotide variant not provided [RCV004999012] Chr14:45154743 [GRCh38]
Chr14:45623946 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1545_1546delinsCC (p.Lys515_Ser516delinsAsnArg) indel not provided [RCV004999013] Chr14:45159244..45159245 [GRCh38]
Chr14:45628447..45628448 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2249A>G (p.Asp750Gly) single nucleotide variant not provided [RCV004999015] Chr14:45173143 [GRCh38]
Chr14:45642346 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2870C>T (p.Ser957Phe) single nucleotide variant not provided [RCV004999016] Chr14:45175624 [GRCh38]
Chr14:45644827 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3270A>G (p.Gln1090=) single nucleotide variant not provided [RCV004999017] Chr14:45176024 [GRCh38]
Chr14:45645227 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3286C>T (p.Pro1096Ser) single nucleotide variant not provided [RCV004999018] Chr14:45176040 [GRCh38]
Chr14:45645243 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4083A>G (p.Pro1361=) single nucleotide variant not provided [RCV004999022] Chr14:45176837 [GRCh38]
Chr14:45646040 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4404T>C (p.Ser1468=) single nucleotide variant not provided [RCV004999025] Chr14:45183791 [GRCh38]
Chr14:45652994 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5358G>A (p.Glu1786=) single nucleotide variant not provided [RCV004999026] Chr14:45196189 [GRCh38]
Chr14:45665392 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5635A>G (p.Lys1879Glu) single nucleotide variant not provided [RCV004999027] Chr14:45196466 [GRCh38]
Chr14:45665669 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.77G>A (p.Ser26Asn) single nucleotide variant not provided [RCV004999029] Chr14:45136108 [GRCh38]
Chr14:45605311 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.926A>G (p.Glu309Gly) single nucleotide variant not provided [RCV004999030] Chr14:45151404 [GRCh38]
Chr14:45620607 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1789-3C>A single nucleotide variant not provided [RCV004999032] Chr14:45166947 [GRCh38]
Chr14:45636150 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6008+8_6008+11del deletion not provided [RCV004999033] Chr14:45198943..45198946 [GRCh38]
Chr14:45668146..45668149 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2160+7T>G single nucleotide variant not provided [RCV004999034] Chr14:45170753 [GRCh38]
Chr14:45639956 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1889C>T (p.Pro630Leu) single nucleotide variant not provided [RCV004999014] Chr14:45167050 [GRCh38]
Chr14:45636253 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3952G>A (p.Glu1318Lys) single nucleotide variant not provided [RCV004999020] Chr14:45176706 [GRCh38]
Chr14:45645909 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4037C>T (p.Thr1346Ile) single nucleotide variant not provided [RCV004999021] Chr14:45176791 [GRCh38]
Chr14:45645994 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.759G>A (p.Lys253=) single nucleotide variant Spermatogenic failure 28 [RCV005007185] Chr14:45140709 [GRCh38]
Chr14:45609912 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.760-2A>G single nucleotide variant Spermatogenic failure 28 [RCV005007186] Chr14:45148835 [GRCh38]
Chr14:45618038 [GRCh37]
Chr14:14q21.2		 likely pathogenic
NM_020937.4(FANCM):c.5348G>T (p.Ser1783Ile) single nucleotide variant Spermatogenic failure 28 [RCV005007200] Chr14:45196179 [GRCh38]
Chr14:45665382 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2666T>C (p.Ile889Thr) single nucleotide variant Inborn genetic diseases [RCV004974783] Chr14:45175420 [GRCh38]
Chr14:45644623 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5951A>G (p.Tyr1984Cys) single nucleotide variant Inborn genetic diseases [RCV004974784] Chr14:45198878 [GRCh38]
Chr14:45668081 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4209T>C (p.Cys1403=) single nucleotide variant Inborn genetic diseases [RCV004974789] Chr14:45176963 [GRCh38]
Chr14:45646166 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2580A>T (p.Glu860Asp) single nucleotide variant Inborn genetic diseases [RCV004974794] Chr14:45175334 [GRCh38]
Chr14:45644537 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3125C>T (p.Ala1042Val) single nucleotide variant Inborn genetic diseases [RCV004974806] Chr14:45175879 [GRCh38]
Chr14:45645082 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1967T>G (p.Leu656Trp) single nucleotide variant Inborn genetic diseases [RCV004974808] Chr14:45167128 [GRCh38]
Chr14:45636331 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.439G>A (p.Val147Met) single nucleotide variant Inborn genetic diseases [RCV004974812] Chr14:45136470 [GRCh38]
Chr14:45605673 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2428A>G (p.Ile810Val) single nucleotide variant Inborn genetic diseases [RCV004974823] Chr14:45175182 [GRCh38]
Chr14:45644385 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5865G>T (p.Lys1955Asn) single nucleotide variant Inborn genetic diseases [RCV004974827] Chr14:45198792 [GRCh38]
Chr14:45667995 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.237G>A (p.Ala79=) single nucleotide variant Inborn genetic diseases [RCV004974829] Chr14:45136268 [GRCh38]
Chr14:45605471 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.384C>G (p.Phe128Leu) single nucleotide variant Inborn genetic diseases [RCV004974831] Chr14:45136415 [GRCh38]
Chr14:45605618 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2186A>G (p.His729Arg) single nucleotide variant Inborn genetic diseases [RCV004974850] Chr14:45173080 [GRCh38]
Chr14:45642283 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2623A>G (p.Ile875Val) single nucleotide variant Inborn genetic diseases [RCV004974845] Chr14:45175377 [GRCh38]
Chr14:45644580 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.6003T>A (p.Ala2001=) single nucleotide variant Inborn genetic diseases [RCV004974844] Chr14:45198930 [GRCh38]
Chr14:45668133 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.211G>C (p.Glu71Gln) single nucleotide variant Inborn genetic diseases [RCV004974835] Chr14:45136242 [GRCh38]
Chr14:45605445 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2109A>G (p.Ile703Met) single nucleotide variant Inborn genetic diseases [RCV004977692] Chr14:45170695 [GRCh38]
Chr14:45639898 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1785A>G (p.Glu595=) single nucleotide variant Inborn genetic diseases [RCV004977693] Chr14:45164562 [GRCh38]
Chr14:45633765 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4980A>G (p.Ser1660=) single nucleotide variant Inborn genetic diseases [RCV004974770] Chr14:45189002 [GRCh38]
Chr14:45658205 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.2052A>G (p.Glu684=) single nucleotide variant Inborn genetic diseases [RCV004974779] Chr14:45170638 [GRCh38]
Chr14:45639841 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3501T>A (p.Ile1167=) single nucleotide variant Inborn genetic diseases [RCV004974809] Chr14:45176255 [GRCh38]
Chr14:45645458 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.674A>C (p.Tyr225Ser) single nucleotide variant Inborn genetic diseases [RCV004974828] Chr14:45137234 [GRCh38]
Chr14:45606437 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1847G>A (p.Arg616Lys) single nucleotide variant Inborn genetic diseases [RCV004974848] Chr14:45167008 [GRCh38]
Chr14:45636211 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3381C>T (p.Ser1127=) single nucleotide variant Inborn genetic diseases [RCV004974843] Chr14:45176135 [GRCh38]
Chr14:45645338 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.3853C>A (p.His1285Asn) single nucleotide variant not provided [RCV005001521] Chr14:45176607 [GRCh38]
Chr14:45645810 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3479C>T (p.Pro1160Leu) single nucleotide variant Inborn genetic diseases [RCV004977682] Chr14:45176233 [GRCh38]
Chr14:45645436 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1208T>G (p.Leu403Arg) single nucleotide variant Inborn genetic diseases [RCV004977686] Chr14:45154721 [GRCh38]
Chr14:45623924 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.422C>A (p.Ala141Asp) single nucleotide variant Inborn genetic diseases [RCV004977695] Chr14:45136453 [GRCh38]
Chr14:45605656 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3646A>G (p.Asn1216Asp) single nucleotide variant Inborn genetic diseases [RCV004977696] Chr14:45176400 [GRCh38]
Chr14:45645603 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3590A>T (p.Asp1197Val) single nucleotide variant Inborn genetic diseases [RCV004977698] Chr14:45176344 [GRCh38]
Chr14:45645547 [GRCh37]
Chr14:14q21.2		 uncertain significance
GRCh37/hg19 14q21.2(chr14:45469586-46825325)x3 copy number gain not provided [RCV004819605] Chr14:45469586..46825325 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2108T>C (p.Ile703Thr) single nucleotide variant not provided [RCV004820742] Chr14:45170694 [GRCh38]
Chr14:45639897 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.2746G>A (p.Val916Ile) single nucleotide variant Inborn genetic diseases [RCV004974787] Chr14:45175500 [GRCh38]
Chr14:45644703 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5491T>A (p.Leu1831Ile) single nucleotide variant Inborn genetic diseases [RCV004974795] Chr14:45196322 [GRCh38]
Chr14:45665525 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.5481C>T (p.Ile1827=) single nucleotide variant Inborn genetic diseases [RCV004974796] Chr14:45196312 [GRCh38]
Chr14:45665515 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.5499A>G (p.Val1833=) single nucleotide variant Inborn genetic diseases [RCV004974797] Chr14:45196330 [GRCh38]
Chr14:45665533 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.4342T>G (p.Ser1448Ala) single nucleotide variant Inborn genetic diseases [RCV004974802] Chr14:45181661 [GRCh38]
Chr14:45650864 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3667T>A (p.Cys1223Ser) single nucleotide variant Inborn genetic diseases [RCV004974807] Chr14:45176421 [GRCh38]
Chr14:45645624 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3950A>G (p.Asn1317Ser) single nucleotide variant Inborn genetic diseases [RCV004974810] Chr14:45176704 [GRCh38]
Chr14:45645907 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1691A>C (p.Gln564Pro) single nucleotide variant Inborn genetic diseases [RCV004974821] Chr14:45164468 [GRCh38]
Chr14:45633671 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.4092T>C (p.Ser1364=) single nucleotide variant Inborn genetic diseases [RCV004974824] Chr14:45176846 [GRCh38]
Chr14:45646049 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.210A>G (p.Leu70=) single nucleotide variant Inborn genetic diseases [RCV004974830] Chr14:45136241 [GRCh38]
Chr14:45605444 [GRCh37]
Chr14:14q21.2		 likely benign
NM_020937.4(FANCM):c.516A>G (p.Thr172=) single nucleotide variant Inborn genetic diseases [RCV004974832] Chr14:45137076 [GRCh38]
Chr14:45606279 [GRCh37]
Chr14:14q21.2		 likely benign
GRCh37/hg19 14q12-21.3(chr14:32084159-47847938)x3 copy number gain not provided [RCV004819602] Chr14:32084159..47847938 [GRCh37]
Chr14:14q12-21.3		 uncertain significance
NM_020937.4(FANCM):c.1998G>T (p.Arg666Ser) single nucleotide variant Inborn genetic diseases [RCV004974768] Chr14:45167159 [GRCh38]
Chr14:45636362 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.3458A>G (p.Asn1153Ser) single nucleotide variant Inborn genetic diseases [RCV004977685] Chr14:45176212 [GRCh38]
Chr14:45645415 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1494G>C (p.Gln498His) single nucleotide variant Inborn genetic diseases [RCV004977688] Chr14:45159193 [GRCh38]
Chr14:45628396 [GRCh37]
Chr14:14q21.2		 uncertain significance
NM_020937.4(FANCM):c.1539A>C (p.Ser513=) single nucleotide variant Inborn genetic diseases [RCV004977699] Chr14:45159238 [GRCh38]
Chr14:45628441 [GRCh37]
Chr14:14q21.2		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1371
Count of miRNA genes:612
Interacting mature miRNAs:676
Transcripts:ENST00000267430, ENST00000542564, ENST00000553551, ENST00000554030, ENST00000554809, ENST00000555013, ENST00000555484, ENST00000556036, ENST00000556250, ENST00000557110
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597230255GWAS1326329_Hage at menopause QTL GWAS1326329 (human)2e-26age at menopause144513718445137185Human
597247043GWAS1343117_Hage at menopause QTL GWAS1343117 (human)3e-11age at menopause144519626545196266Human
597247413GWAS1343487_Hage at menopause QTL GWAS1343487 (human)2e-09age at menopause144519626545196266Human

Markers in Region
G35375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371445,663,552 - 45,663,795UniSTSGRCh37
Build 361444,733,302 - 44,733,545RGDNCBI36
Celera1425,524,804 - 25,525,047RGD
Cytogenetic Map14q21.2UniSTS
HuRef1425,774,273 - 25,774,516UniSTS
RH92154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371445,636,236 - 45,636,395UniSTSGRCh37
Build 361444,705,986 - 44,706,145RGDNCBI36
Celera1425,497,490 - 25,497,649RGD
Cytogenetic Map14q21.2UniSTS
HuRef1425,746,960 - 25,747,119UniSTS
GeneMap99-GB4 RH Map14100.06UniSTS
G35560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371445,648,439 - 45,648,564UniSTSGRCh37
Build 361444,718,189 - 44,718,314RGDNCBI36
Celera1425,509,691 - 25,509,816RGD
Cytogenetic Map14q21.2UniSTS
HuRef1425,759,161 - 25,759,286UniSTS
G36291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371445,612,158 - 45,612,361UniSTSGRCh37
Build 361444,681,908 - 44,682,111RGDNCBI36
Celera1425,473,411 - 25,473,614RGD
Cytogenetic Map14q21.2UniSTS
HuRef1425,723,029 - 25,723,232UniSTS
G35743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371445,635,102 - 45,635,376UniSTSGRCh37
Build 361444,704,852 - 44,705,126RGDNCBI36
Celera1425,496,356 - 25,496,630RGD
Cytogenetic Map14q21.2UniSTS
HuRef1425,745,826 - 25,746,100UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4971 1725 2350 5 622 1944 464 2269 7295 6462 53 3733 1 851 1743 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX500546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ140356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000267430   ⟹   ENSP00000267430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,135,930 - 45,200,890 (+)Ensembl
Ensembl Acc Id: ENST00000542564   ⟹   ENSP00000442493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,135,954 - 45,200,028 (+)Ensembl
Ensembl Acc Id: ENST00000553551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,196,728 - 45,200,852 (+)Ensembl
Ensembl Acc Id: ENST00000554030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,139,329 (+)Ensembl
Ensembl Acc Id: ENST00000554809   ⟹   ENSP00000450632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,166,950 - 45,200,071 (+)Ensembl
Ensembl Acc Id: ENST00000555013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,180,835 - 45,187,848 (+)Ensembl
Ensembl Acc Id: ENST00000555484   ⟹   ENSP00000450797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,181,430 - 45,200,071 (+)Ensembl
Ensembl Acc Id: ENST00000556036   ⟹   ENSP00000450596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,135,932 - 45,168,394 (+)Ensembl
Ensembl Acc Id: ENST00000556250   ⟹   ENSP00000452033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,135,930 - 45,200,890 (+)Ensembl
Ensembl Acc Id: ENST00000557110   ⟹   ENSP00000451846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,181,430 - 45,200,261 (+)Ensembl
Ensembl Acc Id: ENST00000696641   ⟹   ENSP00000512774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,135,930 - 45,176,976 (+)Ensembl
Ensembl Acc Id: ENST00000696642   ⟹   ENSP00000512775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,135,993 - 45,189,362 (+)Ensembl
Ensembl Acc Id: ENST00000696643   ⟹   ENSP00000512776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,006 - 45,159,326 (+)Ensembl
Ensembl Acc Id: ENST00000696644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,181,584 - 45,188,862 (+)Ensembl
Ensembl Acc Id: ENST00000696645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,183,498 - 45,200,191 (+)Ensembl
Ensembl Acc Id: ENST00000696646   ⟹   ENSP00000512777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,135,940 - 45,176,976 (+)Ensembl
Ensembl Acc Id: ENST00000696647   ⟹   ENSP00000512778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,135,953 - 45,200,264 (+)Ensembl
Ensembl Acc Id: ENST00000696648   ⟹   ENSP00000512779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,200,056 (+)Ensembl
Ensembl Acc Id: ENST00000696649   ⟹   ENSP00000512780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,200,890 (+)Ensembl
Ensembl Acc Id: ENST00000696650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,006 - 45,189,949 (+)Ensembl
Ensembl Acc Id: ENST00000696651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,194,392 - 45,200,127 (+)Ensembl
Ensembl Acc Id: ENST00000696656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,152,586 (+)Ensembl
Ensembl Acc Id: ENST00000696657   ⟹   ENSP00000512784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,154,822 (+)Ensembl
Ensembl Acc Id: ENST00000696658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,011 - 45,175,310 (+)Ensembl
Ensembl Acc Id: ENST00000696659   ⟹   ENSP00000512785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,170,589 - 45,199,088 (+)Ensembl
Ensembl Acc Id: ENST00000696662   ⟹   ENSP00000512788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,167,419 (+)Ensembl
Ensembl Acc Id: ENST00000696663   ⟹   ENSP00000512789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,154,697 - 45,200,837 (+)Ensembl
Ensembl Acc Id: ENST00000696664   ⟹   ENSP00000512790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,154,697 - 45,200,841 (+)Ensembl
Ensembl Acc Id: ENST00000696665   ⟹   ENSP00000512791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,181,430 - 45,200,842 (+)Ensembl
Ensembl Acc Id: ENST00000696675   ⟹   ENSP00000512799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,135,971 - 45,200,061 (+)Ensembl
Ensembl Acc Id: ENST00000696676   ⟹   ENSP00000512800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,137,416 (+)Ensembl
Ensembl Acc Id: ENST00000696677   ⟹   ENSP00000512801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,151,521 (+)Ensembl
Ensembl Acc Id: ENST00000696678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,151,934 (+)Ensembl
Ensembl Acc Id: ENST00000696679   ⟹   ENSP00000512802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,151,934 (+)Ensembl
Ensembl Acc Id: ENST00000696680   ⟹   ENSP00000512803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,159,280 (+)Ensembl
Ensembl Acc Id: ENST00000696681   ⟹   ENSP00000512804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,003 - 45,159,332 (+)Ensembl
Ensembl Acc Id: ENST00000696682   ⟹   ENSP00000512805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,136,011 - 45,165,610 (+)Ensembl
Ensembl Acc Id: ENST00000696683   ⟹   ENSP00000512806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,154,697 - 45,200,890 (+)Ensembl
Ensembl Acc Id: ENST00000696684   ⟹   ENSP00000512807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,154,697 - 45,200,890 (+)Ensembl
Ensembl Acc Id: ENST00000696685   ⟹   ENSP00000512808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,154,697 - 45,200,890 (+)Ensembl
Ensembl Acc Id: ENST00000696686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1445,180,471 - 45,200,071 (+)Ensembl
RefSeq Acc Id: NM_001308133   ⟹   NP_001295062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,135,930 - 45,200,890 (+)NCBI
CHM1_11445,543,290 - 45,608,236 (+)NCBI
T2T-CHM13v2.01439,327,942 - 39,392,898 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308134   ⟹   NP_001295063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,135,930 - 45,167,190 (+)NCBI
CHM1_11445,543,290 - 45,574,541 (+)NCBI
T2T-CHM13v2.01439,327,942 - 39,359,201 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020937   ⟹   NP_065988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,135,930 - 45,200,890 (+)NCBI
GRCh371445,605,136 - 45,670,093 (+)ENTREZGENE
GRCh371445,605,136 - 45,670,093 (+)NCBI
Build 361444,674,886 - 44,739,840 (+)NCBI Archive
HuRef1425,716,007 - 25,780,814 (+)ENTREZGENE
CHM1_11445,543,290 - 45,608,236 (+)NCBI
T2T-CHM13v2.01439,327,942 - 39,392,898 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537034   ⟹   XP_011535336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,135,930 - 45,200,890 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537035   ⟹   XP_011535337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,135,930 - 45,200,890 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537037   ⟹   XP_011535339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,169,627 - 45,200,890 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021523   ⟹   XP_016877012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,135,930 - 45,200,890 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431631   ⟹   XP_047287587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,135,930 - 45,198,837 (+)NCBI
RefSeq Acc Id: XM_047431632   ⟹   XP_047287588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,135,930 - 45,200,890 (+)NCBI
RefSeq Acc Id: XM_047431633   ⟹   XP_047287589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,135,930 - 45,198,837 (+)NCBI
RefSeq Acc Id: XM_047431634   ⟹   XP_047287590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381445,151,442 - 45,200,890 (+)NCBI
RefSeq Acc Id: XM_054376496   ⟹   XP_054232471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01439,327,942 - 39,392,898 (+)NCBI
RefSeq Acc Id: XM_054376497   ⟹   XP_054232472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01439,327,942 - 39,392,898 (+)NCBI
RefSeq Acc Id: XM_054376498   ⟹   XP_054232473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01439,327,942 - 39,392,898 (+)NCBI
RefSeq Acc Id: XM_054376499   ⟹   XP_054232474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01439,327,942 - 39,390,845 (+)NCBI
RefSeq Acc Id: XM_054376500   ⟹   XP_054232475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01439,327,942 - 39,392,898 (+)NCBI
RefSeq Acc Id: XM_054376501   ⟹   XP_054232476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01439,327,942 - 39,390,845 (+)NCBI
RefSeq Acc Id: XM_054376502   ⟹   XP_054232477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01439,343,453 - 39,392,898 (+)NCBI
RefSeq Acc Id: XM_054376503   ⟹   XP_054232478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01439,361,638 - 39,392,898 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001295062 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295063 (Get FASTA)   NCBI Sequence Viewer  
  NP_065988 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535336 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535337 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535339 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877012 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287587 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287588 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287589 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287590 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232473 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232474 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232476 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232477 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232478 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH36056 (Get FASTA)   NCBI Sequence Viewer  
  AAI40777 (Get FASTA)   NCBI Sequence Viewer  
  AAI44512 (Get FASTA)   NCBI Sequence Viewer  
  AAZ53290 (Get FASTA)   NCBI Sequence Viewer  
  BAB13422 (Get FASTA)   NCBI Sequence Viewer  
  BAC04159 (Get FASTA)   NCBI Sequence Viewer  
  EAW65781 (Get FASTA)   NCBI Sequence Viewer  
  EAW65782 (Get FASTA)   NCBI Sequence Viewer  
  EAW65783 (Get FASTA)   NCBI Sequence Viewer  
  EAW65784 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000267430
  ENSP00000267430.5
  ENSP00000442493
  ENSP00000442493.2
  ENSP00000450596
  ENSP00000450596.1
  ENSP00000450632
  ENSP00000450632.2
  ENSP00000450797.2
  ENSP00000451846.2
  ENSP00000452033.2
  ENSP00000512773.1
  ENSP00000512774.1
  ENSP00000512775.1
  ENSP00000512776.1
  ENSP00000512777.1
  ENSP00000512778
  ENSP00000512778.1
  ENSP00000512779.1
  ENSP00000512780.1
  ENSP00000512784.1
  ENSP00000512785.1
  ENSP00000512788.1
  ENSP00000512789.1
  ENSP00000512790
  ENSP00000512790.1
  ENSP00000512791.1
  ENSP00000512799.1
  ENSP00000512800.1
  ENSP00000512801.1
  ENSP00000512802.1
  ENSP00000512803.1
  ENSP00000512804.1
  ENSP00000512805.1
  ENSP00000512806.1
  ENSP00000512807.1
  ENSP00000512808.1
GenBank Protein Q8IYD8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_065988   ⟸   NM_020937
- Peptide Label: isoform 1
- UniProtKB: Q8N9X6 (UniProtKB/Swiss-Prot),   Q3YFH9 (UniProtKB/Swiss-Prot),   B2RTQ9 (UniProtKB/Swiss-Prot),   Q9HCH6 (UniProtKB/Swiss-Prot),   Q8IYD8 (UniProtKB/Swiss-Prot),   A0A8Q3WLE8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535336   ⟸   XM_011537034
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535337   ⟸   XM_011537035
- Peptide Label: isoform X2
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535339   ⟸   XM_011537037
- Peptide Label: isoform X8
- UniProtKB: H0YJ14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295062   ⟸   NM_001308133
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295063   ⟸   NM_001308134
- Peptide Label: isoform 3
- UniProtKB: A0A8Q3SIT9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877012   ⟸   XM_017021523
- Peptide Label: isoform X3
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000450797   ⟸   ENST00000555484
Ensembl Acc Id: ENSP00000450596   ⟸   ENST00000556036
Ensembl Acc Id: ENSP00000442493   ⟸   ENST00000542564
Ensembl Acc Id: ENSP00000267430   ⟸   ENST00000267430
Ensembl Acc Id: ENSP00000452033   ⟸   ENST00000556250
Ensembl Acc Id: ENSP00000451846   ⟸   ENST00000557110
Ensembl Acc Id: ENSP00000450632   ⟸   ENST00000554809
Ensembl Acc Id: ENSP00000512778   ⟸   ENST00000696647
Ensembl Acc Id: ENSP00000512791   ⟸   ENST00000696665
Ensembl Acc Id: ENSP00000512805   ⟸   ENST00000696682
Ensembl Acc Id: ENSP00000512800   ⟸   ENST00000696676
Ensembl Acc Id: ENSP00000512784   ⟸   ENST00000696657
Ensembl Acc Id: ENSP00000512775   ⟸   ENST00000696642
Ensembl Acc Id: ENSP00000512801   ⟸   ENST00000696677
Ensembl Acc Id: ENSP00000512788   ⟸   ENST00000696662
Ensembl Acc Id: ENSP00000512789   ⟸   ENST00000696663
Ensembl Acc Id: ENSP00000512774   ⟸   ENST00000696641
Ensembl Acc Id: ENSP00000512807   ⟸   ENST00000696684
Ensembl Acc Id: ENSP00000512799   ⟸   ENST00000696675
Ensembl Acc Id: ENSP00000512804   ⟸   ENST00000696681
Ensembl Acc Id: ENSP00000512776   ⟸   ENST00000696643
Ensembl Acc Id: ENSP00000512806   ⟸   ENST00000696683
Ensembl Acc Id: ENSP00000512785   ⟸   ENST00000696659
Ensembl Acc Id: ENSP00000512790   ⟸   ENST00000696664
Ensembl Acc Id: ENSP00000512777   ⟸   ENST00000696646
Ensembl Acc Id: ENSP00000512780   ⟸   ENST00000696649
Ensembl Acc Id: ENSP00000512808   ⟸   ENST00000696685
Ensembl Acc Id: ENSP00000512802   ⟸   ENST00000696679
Ensembl Acc Id: ENSP00000512779   ⟸   ENST00000696648
Ensembl Acc Id: ENSP00000512803   ⟸   ENST00000696680
RefSeq Acc Id: XP_047287588   ⟸   XM_047431632
- Peptide Label: isoform X5
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287587   ⟸   XM_047431631
- Peptide Label: isoform X4
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287589   ⟸   XM_047431633
- Peptide Label: isoform X6
- UniProtKB: A0A8Q3WLG3 (UniProtKB/TrEMBL),   A0A8Q3WLE8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287590   ⟸   XM_047431634
- Peptide Label: isoform X7
- UniProtKB: A0A8Q3SIX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232471   ⟸   XM_054376496
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232473   ⟸   XM_054376498
- Peptide Label: isoform X3
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232475   ⟸   XM_054376500
- Peptide Label: isoform X5
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232472   ⟸   XM_054376497
- Peptide Label: isoform X2
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232474   ⟸   XM_054376499
- Peptide Label: isoform X4
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232476   ⟸   XM_054376501
- Peptide Label: isoform X6
- UniProtKB: A0A8Q3WLE8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232477   ⟸   XM_054376502
- Peptide Label: isoform X7
- UniProtKB: A0A8Q3SIX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232478   ⟸   XM_054376503
- Peptide Label: isoform X8
- UniProtKB: H0YJ14 (UniProtKB/TrEMBL)
Protein Domains
ERCC4   Fanconi anemia group M protein MHF binding   Helicase ATP-binding   Helicase C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IYD8-F1-model_v2 AlphaFold Q8IYD8 1-2048 view protein structure

Promoters
RGD ID:6791573
Promoter ID:HG_KWN:19286
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_020937,   UC001WWC.2,   UC010ANF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361444,674,721 - 44,675,221 (+)MPROMDB
RGD ID:7227503
Promoter ID:EPDNEW_H19497
Type:initiation region
Name:FANCM_1
Description:Fanconi anemia complementation group M
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
GRCh381445,135,940 - 45,136,000EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23168 AgrOrtholog
COSMIC FANCM COSMIC
Ensembl Genes ENSG00000187790 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000267430 ENTREZGENE
  ENST00000267430.10 UniProtKB/Swiss-Prot
  ENST00000542564 ENTREZGENE
  ENST00000542564.6 UniProtKB/Swiss-Prot
  ENST00000554030.2 UniProtKB/TrEMBL
  ENST00000554809 ENTREZGENE
  ENST00000554809.6 UniProtKB/TrEMBL
  ENST00000555484.2 UniProtKB/TrEMBL
  ENST00000556036 ENTREZGENE
  ENST00000556036.6 UniProtKB/Swiss-Prot
  ENST00000556250.6 UniProtKB/TrEMBL
  ENST00000557110.2 UniProtKB/TrEMBL
  ENST00000696641.1 UniProtKB/TrEMBL
  ENST00000696642.1 UniProtKB/TrEMBL
  ENST00000696643.1 UniProtKB/TrEMBL
  ENST00000696646.1 UniProtKB/TrEMBL
  ENST00000696647 ENTREZGENE
  ENST00000696647.1 UniProtKB/TrEMBL
  ENST00000696648.1 UniProtKB/TrEMBL
  ENST00000696649.1 UniProtKB/TrEMBL
  ENST00000696657.1 UniProtKB/TrEMBL
  ENST00000696659.1 UniProtKB/TrEMBL
  ENST00000696662.1 UniProtKB/TrEMBL
  ENST00000696663.1 UniProtKB/TrEMBL
  ENST00000696664 ENTREZGENE
  ENST00000696664.1 UniProtKB/TrEMBL
  ENST00000696665.1 UniProtKB/TrEMBL
  ENST00000696675.1 UniProtKB/TrEMBL
  ENST00000696676.1 UniProtKB/TrEMBL
  ENST00000696677.1 UniProtKB/TrEMBL
  ENST00000696679.1 UniProtKB/TrEMBL
  ENST00000696680.1 UniProtKB/TrEMBL
  ENST00000696681.1 UniProtKB/TrEMBL
  ENST00000696682.1 UniProtKB/TrEMBL
  ENST00000696683.1 UniProtKB/TrEMBL
  ENST00000696684.1 UniProtKB/TrEMBL
  ENST00000696685.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5' to 3' exonuclease, C-terminal subdomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hef helicase domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187790 GTEx
HGNC ID HGNC:23168 ENTREZGENE
Human Proteome Map FANCM Human Proteome Map
InterPro DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERCC4_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCM-MHF-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCM/Mph1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCM_DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase/UvrB_N UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Restrct_endonuc-II-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RuvA_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPF_nuclease_FANCM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57697 UniProtKB/Swiss-Prot
NCBI Gene 57697 ENTREZGENE
OMIM 609644 OMIM
PANTHER FANCONI ANEMIA GROUP M FANCM FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14025:SF20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERCC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FANCM-MHF_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ResIII UniProtKB/TrEMBL
PharmGKB PA134943156 PharmGKB
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERCC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP P-loop containing nucleoside triphosphate hydrolases UniProtKB/TrEMBL
  SSF47781 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot
  SSF52980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3SIQ3_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIT9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SIU7_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIU9_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIV0_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIX9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SIZ4_HUMAN UniProtKB/TrEMBL
  A0A8Q3SJ05_HUMAN UniProtKB/TrEMBL
  A0A8Q3SJG0_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLE8 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WLE9_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLG0_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLG3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WLG5_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLH1_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLH2_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLH3_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLY4_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLZ4_HUMAN UniProtKB/TrEMBL
  A0A8Q3WMJ4_HUMAN UniProtKB/TrEMBL
  A0A8Q3WMK3_HUMAN UniProtKB/TrEMBL
  B2RTQ9 ENTREZGENE
  FANCM_HUMAN UniProtKB/Swiss-Prot
  H0YJ14 ENTREZGENE, UniProtKB/TrEMBL
  H0YJ45_HUMAN UniProtKB/TrEMBL
  H0YJN7_HUMAN UniProtKB/TrEMBL
  H0YJS3_HUMAN UniProtKB/TrEMBL
  Q3YFH9 ENTREZGENE
  Q8IYD8 ENTREZGENE
  Q8N9X6 ENTREZGENE
  Q9HCH6 ENTREZGENE
UniProt Secondary B2RTQ9 UniProtKB/Swiss-Prot
  Q3YFH9 UniProtKB/Swiss-Prot
  Q8N9X6 UniProtKB/Swiss-Prot
  Q9HCH6 UniProtKB/Swiss-Prot


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