ClinVar Miner

Variants with conflicting interpretations studied for Fanconi anemia

Coded as:
Minimum review status of the submission for Fanconi anemia: Y axis collection method of the submission for Fanconi anemia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1425 416 14 257 225 2 18 438

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Fanconi anemia pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 4 36 3 1 1 1 1
likely pathogenic 5 0 5 0 0 0 0
uncertain significance 6 7 0 127 80 1 1
likely benign 3 0 67 6 207 0 0
benign 0 0 5 19 4 0 0
risk factor 1 1 0 0 0 0 0

Condition to condition summary #

Total conditions: 335
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 150 10 186 148 1 7 327
not specified 0 129 0 172 89 0 1 249
Hereditary cancer-predisposing syndrome 0 72 0 88 41 0 1 126
Breast-ovarian cancer, familial 2 0 23 0 68 54 0 1 85
Familial cancer of breast 0 29 0 30 11 0 1 40
Hereditary breast and ovarian cancer syndrome 0 90 0 35 6 0 1 40
Fanconi anemia, complementation group A 0 64 2 21 4 1 6 33
Breast and/or ovarian cancer 0 18 0 15 6 0 1 21
Fanconi anemia, complementation group C 0 17 0 15 1 0 1 17
Fanconi anemia 2209 54 0 10 4 0 2 16
Fanconi anemia, complementation group J 0 0 0 6 7 0 0 13
Neoplasm of ovary 0 0 0 6 7 0 0 13
Neoplasm of the breast 0 95 0 0 6 0 2 8
Pancreatic cancer 3 0 1 0 5 1 0 0 6
Progressive sclerosing poliodystrophy 0 2 0 3 3 0 0 6
POLG-Related Spectrum Disorders 0 11 0 4 1 0 0 5
Fanconi anemia, complementation group O 0 1 0 4 0 0 0 4
Seizures 0 0 0 4 0 0 1 4
Breast-ovarian cancer, familial 3 0 1 0 3 0 0 0 3
Fanconi anemia, complementation group G 0 5 2 0 0 0 1 3
Cancer of the pancreas 0 0 0 0 2 0 0 2
Ductal breast carcinoma 0 0 0 0 1 0 1 2
Fanconi anemia, complementation group I 0 14 0 2 0 0 0 2
Fanconi anemia, complementation group J; Neoplasm of ovary 0 2 0 0 2 0 0 2
Fanconi anemia, complementation group L 0 0 0 1 0 0 2 2
Mitochondrial diseases 0 0 0 2 0 0 0 2
Premature ovarian insufficiency 0 0 0 0 0 0 2 2
SPERMATOGENIC FAILURE 28 0 0 0 0 0 1 1 2
11q partial monosomy syndrome 0 0 0 1 0 0 1 1
16q24.3 microdeletion syndrome 0 0 0 0 0 0 1 1
1p13.3 deletion syndrome 0 0 0 1 0 0 1 1
1q21.1 recurrent microdeletion 0 0 0 0 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 0 0 0 1 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 0 0 0 1 1
Abnormal bleeding 0 0 0 1 0 0 1 1
Abnormal thrombosis; Reduced protein S activity 0 0 0 1 0 0 1 1
Abnormality of esophagus morphology 0 0 0 0 0 0 1 1
Abnormality of the eye 0 0 0 1 0 0 1 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 0 0 1 1
Adams-Oliver syndrome 5 0 0 0 1 0 0 1 1
Aminoaciduria 0 0 0 0 0 0 1 1
Amyotrophic Lateral Sclerosis, Dominant 0 3 0 0 1 0 0 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 0 0 0 1 1
Anomalous pulmonary venous return 0 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 0 0 0 0 1 1
Ataxia-telangiectasia-like disorder 1 0 0 0 1 0 0 1 1
Autism spectrum disorder 0 0 0 1 0 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 1 0 0 1 1
Autistic behavior; Absent speech 0 0 0 0 0 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 1 0 0 1 1
Autistic behavior; Severe global developmental delay 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 1 0 0 1 1
Autosomal recessive congenital ichthyosis 3 0 0 0 0 0 0 1 1
Axenfeld-Rieger syndrome type 3 0 0 0 0 0 0 1 1
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 0 0 1 0 0 1
Barakat syndrome 0 0 0 0 0 0 1 1
Bardet-Biedl syndrome 0 0 0 0 0 0 1 1
Becker muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 0 0 0 1 1
Beckwith-Wiedemann syndrome 0 0 0 0 0 0 1 1
Behavioral abnormality; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Postnatal microcephaly 0 0 0 0 0 0 1 1
Behavioral abnormality; Moderate global developmental delay 0 0 0 0 0 0 1 1
Bethlem myopathy 1 0 0 0 0 0 0 1 1
Biotin-thiamine-responsive basal ganglia disease 0 0 0 0 0 0 1 1
Biotinidase deficiency 0 0 0 0 0 0 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 0 1 0 1 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 0 0 0 1 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 0 0 0 1 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 1 0 0 1 1
Brain malformations and urinary tract defects 0 0 0 0 0 0 1 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 0 0 0 1 1
Capillary malformation-arteriovenous malformation 1 0 0 0 0 0 0 1 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease type 2K 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type IA 0 0 0 0 0 0 1 1
Cholestasis, progressive familial intrahepatic 1 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 0 0 0 1 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome 17p13.1 deletion syndrome 0 0 0 0 0 0 1 1
Chromosome 17q12 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome Xq26.3 duplication syndrome 0 0 0 1 0 0 1 1
Ciliary dyskinesia, primary, 28 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 3 0 0 0 1 0 0 1 1
Citrullinemia type I 0 0 0 0 0 0 1 1
Cleidocranial dysostosis 0 0 0 0 0 0 1 1
Cohen syndrome 0 0 0 0 0 0 1 1
Collagen VI-related myopathy 0 0 0 0 1 0 1 1
Combined oxidative phosphorylation deficiency 14 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 31 0 0 0 1 0 0 1 1
Cone monochromatism 0 0 0 0 0 0 1 1
Cone/cone-rod dystrophy 0 0 0 1 0 0 1 1
Congenital contractural arachnodactyly 0 0 0 0 0 0 1 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 0 0 0 0 0 0 1 1
Cornelia de Lange syndrome 1 0 0 0 1 0 0 1 1
Cornelia de Lange syndrome 5 0 0 0 0 0 0 1 1
Currarino triad 0 0 0 1 0 0 1 1
Cystic fibrosis 0 0 0 0 0 0 1 1
Cystinuria 0 0 0 1 0 0 1 1
Deafness, autosomal dominant 56 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 16 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 1A 0 0 0 0 0 0 1 1
Deep venous thrombosis 0 0 0 1 0 0 1 1
Deletion of long arm of chromosome 18 0 0 0 0 0 0 1 1
Dent disease 1 0 0 0 0 0 0 1 1
Developmental Split Brain Syndrome 0 0 0 0 0 0 1 1
DiGeorge sequence 0 0 0 0 0 0 1 1
Dihydropteridine reductase deficiency 0 0 0 0 0 0 1 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 1 0 1 1
Dilated cardiomyopathy 1G 0 0 0 1 0 0 1 1
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 0 0 0 0 0 0 1 1
Duchenne muscular dystrophy 0 0 0 1 0 0 1 1
Dystonia 0 0 0 0 0 0 1 1
Dystonia; Global developmental delay; Ichthyosis 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 1 0 0 1 1
Early infantile epileptic encephalopathy 4 0 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 0 0 1 1
Encephalopathy 0 0 0 0 0 0 1 1
Epilepsy 0 0 0 0 0 0 1 1
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 0 0 1 0 0 1 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 0 0 0 1 1
Epilepsy, progressive myoclonic 3 0 0 0 0 0 0 1 1
Epileptic encephalopathy 0 0 0 0 0 0 1 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 0 1 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 0 0 0 1 1
Esophageal atresia; Seizures; Neurodevelopmental delay; Ventricular septal defect 0 0 0 0 0 0 1 1
Exudative vitreoretinopathy 1 0 0 0 0 0 0 1 1
Factor X deficiency 0 0 0 1 0 0 1 1
Failure to thrive in infancy; Attention deficit hyperactivity disorder 0 0 0 0 0 0 1 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 0 0 0 0 1 1
Familial adenomatous polyposis 1 0 0 0 1 0 0 1 1
Familial colorectal cancer 0 0 0 0 0 0 1 1
Familial hypercholesterolemia 1 0 0 0 1 0 0 1 1
Familial hypertrophic cardiomyopathy 16 0 0 0 0 0 0 1 1
Familial hypokalemia-hypomagnesemia 0 0 0 1 0 0 1 1
Fanconi anemia, complementation group D1 0 1 0 0 0 0 1 1
Fanconi anemia, complementation group D2 0 6 0 1 0 0 0 1
Fanconi anemia, complementation group P 0 18 0 0 1 0 0 1
Focal seizures 0 0 0 1 0 0 1 1
Fumarase deficiency 0 0 0 0 0 0 1 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 1 0 0 1 1
Glioma 0 0 0 1 0 0 1 1
Global developmental delay 0 0 0 0 1 0 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 0 0 0 1 1
Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia 0 0 0 1 0 0 1 1
Global developmental delay; Microcephaly; Abnormality of the cerebellum 0 0 0 1 0 0 1 1
Global developmental delay; Seizures; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 1 0 0 1 1
Glycogen storage disease, type II 0 0 0 0 0 0 1 1
Gorlin syndrome 0 0 0 0 0 0 1 1
Griscelli syndrome type 2 0 0 0 0 0 0 1 1
Growth abnormality 0 0 0 0 0 0 1 1
Hematologic neoplasm 0 0 0 0 0 0 1 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 0 1 1
Hereditary cutaneous melanoma 0 0 0 0 0 0 1 1
Hereditary factor IX deficiency disease 0 0 0 1 0 0 1 1
Hereditary factor XI deficiency disease 0 0 0 1 0 0 1 1
Hereditary hemorrhagic telangiectasia type 1 0 0 0 0 0 0 1 1
Hereditary nonpolyposis colon cancer 0 0 0 1 0 0 1 1
Hereditary pancreatitis 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 0 0 1 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 0 0 0 1 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 0 1 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 0 0 0 1 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 0 0 0 1 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 0 0 0 1 1
Idiopathic basal ganglia calcification 1 0 0 0 1 0 0 1 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 0 1 1
Imatinib response 0 0 0 0 0 1 0 1
Immunodeficiency 23 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 1 0 0 0 0 1 1
Inclusion Body Myopathy, Dominant 0 3 0 0 1 0 0 1
Inclusion body myositis; GNE myopathy 0 0 0 0 0 0 1 1
Infantile nephronophthisis 0 0 0 1 0 0 1 1
Infantile neuroaxonal dystrophy 0 0 0 0 0 0 1 1
Intellectual disability 0 0 0 1 0 0 1 1
Intellectual disability, mild 0 0 0 0 0 0 1 1
Intellectual disability, severe 0 0 0 0 0 0 1 1
Internal malformations 0 0 0 0 0 0 1 1
Intestinal malrotation 0 0 0 1 0 0 1 1
Isolated growth hormone deficiency type 1B 0 0 0 0 0 0 1 1
Jeune thoracic dystrophy 0 0 0 0 0 0 1 1
Joubert syndrome 0 0 0 0 0 0 1 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 0 0 0 0 1 1
Joubert syndrome; Orofaciodigital syndrome I 0 0 0 0 0 0 1 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 1 0 1 1
Juvenile polyposis syndrome 0 0 0 0 0 0 1 1
Kallmann syndrome 1 0 0 0 0 0 0 1 1
Keratoconus 0 0 0 0 0 0 1 1
Kidney Disease; Tooth agenesis 0 0 0 0 0 0 1 1
Kilquist Syndrome 0 0 0 0 0 0 1 1
Kleefstra syndrome 2 0 0 0 1 0 0 1 1
Laminin alpha 2-related dystrophy 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 0 1 0 0 1 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 1 1
Leptin receptor deficiency 0 0 0 0 0 0 1 1
Leri Weill dyschondrosteosis 0 0 0 0 0 0 1 1
Lethal multiple pterygium syndrome 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 0 1 1
Loeys-Dietz syndrome 4 0 0 0 0 0 0 1 1
Long QT syndrome 0 0 0 0 0 0 1 1
Lowe syndrome 0 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 0 1 1
MBD5 associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
MECP2 duplication syndrome 0 0 0 0 0 0 1 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 0 0 0 0 1 1
Macrothrombocytopenia 0 0 0 1 0 0 1 1
Majeed syndrome 0 0 0 1 0 0 1 1
Malignant germ cell tumor of ovary 0 0 0 0 0 0 1 1
Malignant tumor of prostate 0 0 0 0 1 0 0 1
Marfan syndrome 0 0 0 0 0 0 1 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 0 1 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 0 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 0 0 0 0 1 1
Mental retardation, autosomal dominant 18 0 0 0 1 0 0 1 1
Mental retardation, autosomal dominant 26 0 0 0 0 0 0 1 1
Mental retardation, autosomal recessive 7 0 0 0 0 0 0 1 1
Mesangiocapillary glomerulonephritis 0 0 0 1 0 0 1 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 0 0 0 0 1 1
Mirror movements 1 0 0 0 0 0 0 1 1
Mitochondrial complex I deficiency 0 0 0 0 0 0 1 1
Mowat-Wilson syndrome 0 0 0 0 0 0 1 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 0 0 0 1 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 0 0 0 1 1
Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 1 1
Multiple exostoses type 2 0 0 0 0 0 0 1 1
Myoclonic dystonia 0 0 0 0 0 0 1 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Myopathy, distal, 1 0 0 0 0 1 0 1 1
Myosclerosis 0 0 0 0 1 0 1 1
Myosin storage myopathy 0 0 0 0 1 0 1 1
Nemaline myopathy 6 0 0 0 1 0 0 1 1
Nephronophthisis 0 0 0 0 1 0 1 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 0 0 0 1 1
Neuroblastoma 3 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 0 1 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 0 0 0 0 1 1
Neurofibromatosis, type 2 0 0 0 0 0 0 1 1
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 0 0 0 0 0 0 1 1
Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 0 0 0 0 1 0 1 1
Optic nerve hypoplasia 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type 10 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type I 0 0 0 0 0 0 1 1
Ovarian Neoplasms 0 0 0 0 0 1 0 1
Ovarian cancer; breast cancer 0 0 0 0 0 0 1 1
PREMATURE OVARIAN FAILURE 15 0 0 0 0 0 1 0 1
PTEN hamartoma tumor syndrome 0 0 0 0 0 0 1 1
Paris-Trousseau thrombocytopenia 0 0 0 0 0 0 1 1
Parkinson disease 2 0 0 0 1 0 0 1 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 0 1 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 0 0 0 1 1
Peripheral neuropathy 0 0 0 0 0 0 1 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 0 0 0 1 1
Pitt-Hopkins-like syndrome 2 0 0 0 0 0 0 1 1
Plasminogen activator inhibitor type 1 deficiency 0 0 0 0 0 0 1 1
Polycystic kidney disease, adult type 0 0 0 0 0 0 1 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 0 0 0 1 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 0 0 0 1 1
Poretti-Boltshauser syndrome 0 0 0 0 0 0 1 1
Prader-Willi syndrome 0 0 0 0 0 0 1 1
Premature ovarian failure 0 0 0 0 0 0 1 1
Primary amenorrhea 0 0 0 0 1 0 1 1
Primary ciliary dyskinesia 0 0 0 1 0 0 1 1
Primary hyperoxaluria, type I 0 0 0 0 0 0 1 1
Progressive familial heart block type 1B 0 0 0 0 0 0 1 1
Progressive myoclonus epilepsy with ataxia 0 0 0 1 0 0 1 1
Pseudoxanthoma elasticum 0 0 0 0 0 0 1 1
Pulmonary arterial hypertension 0 0 0 1 0 0 1 1
RHD DEL 0 0 0 0 0 0 1 1
Reduced antithrombin III activity 0 0 0 1 0 0 1 1
Reduced protein S activity 0 0 0 1 0 0 1 1
Renal cyst; Pancreatic cysts 0 0 0 0 0 0 1 1
Renal transitional cell carcinoma 0 0 0 1 0 0 1 1
Retinal dystrophy 0 0 0 1 0 0 1 1
Retinitis pigmentosa 0 0 0 1 0 0 1 1
RhD negative 0 0 0 0 0 0 1 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 0 0 0 1 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 1 0 0 1 1
Rod-cone dystrophy; Hypomagnesemia 0 0 0 1 0 0 1 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 0 0 0 1 1
Scapuloperoneal myopathy 0 0 0 0 1 0 1 1
Schizophrenia 0 0 0 1 0 0 1 1
Schizophrenia 17 0 0 0 0 0 0 1 1
See cases 0 0 0 0 0 0 1 1
Seizures; Intellectual disability 0 0 0 1 0 0 1 1
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 0 0 0 0 1 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0 0 0 0 0 0 1 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 1 0 0 1 1
Skeletal dysplasia 0 0 0 0 0 0 1 1
Spastic paraplegia 0 0 0 1 0 0 1 1
Spastic paraplegia 11, autosomal recessive 0 0 0 0 0 0 1 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 0 1 0 1 1
Spastic paraplegia 4, autosomal dominant 0 0 0 0 0 0 1 1
Spherocytosis type 2 0 0 0 0 0 0 1 1
Spinal muscular atrophy, distal, autosomal recessive, 5 0 0 0 0 0 0 1 1
Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy type 4 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 15 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 27 0 0 0 1 0 0 1 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 0 0 0 1 1
Split-hand/foot malformation 0 0 0 0 0 0 1 1
Spondylocostal dysostosis 5 0 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 1 0 0 1 1
Stargardt disease 1 0 0 0 1 0 0 1 1
T-cell acute lymphoblastic leukemia 0 0 0 0 0 0 1 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 1
Thrombocytopenia 0 0 0 1 0 0 1 1
Treacher Collins syndrome 1 0 0 0 1 0 0 1 1
Trichorhinophalangeal dysplasia type I 0 0 0 0 0 0 1 1
Tuberous sclerosis 2 0 0 0 0 0 0 1 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 0 0 0 1 1
Uniparental disomy, paternal, chromosome 14 0 0 0 0 0 0 1 1
Usher syndrome 0 0 0 1 0 0 1 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1
Vici syndrome 0 0 0 0 0 0 1 1
Visceral myopathy 0 0 0 1 0 0 1 1
Vitamin B2 deficiency 0 0 0 0 0 0 1 1
Wilson disease 0 0 0 0 0 0 1 1
Witteveen-kolk syndrome 0 0 0 0 0 0 1 1
alpha Thalassemia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 438
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*295C>G rs11571834
NM_000059.3(BRCA2):c.*390A>G rs56003538
NM_000059.3(BRCA2):c.*397C>A rs11571835
NM_000059.3(BRCA2):c.*841A>G rs186619625
NM_000059.3(BRCA2):c.*842A>G rs192347116
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-175C>T rs55880202
NM_000059.3(BRCA2):c.-59_-57del rs545321666
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.198A>G (p.Gln66=) rs28897700
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3495T>C (p.His1165=) rs776655838
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.-18G>A rs886038245
NM_000135.4(FANCA):c.1007-7C>G rs111271660
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1471-12A>G rs9282684
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3935-9G>A rs9282680
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.894-8A>G rs11648881
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.-155A>C rs549658720
NM_000136.3(FANCC):c.-29A>C rs4647414
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1604G>A (p.Arg535His) rs587779902
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.345+6A>T rs368595927
NM_000136.3(FANCC):c.345G>A (p.Gln115=) rs1031713372
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.549G>T (p.Leu183=) rs863224611
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.896+6C>T rs199525333
NM_000136.3(FANCC):c.897-3C>T rs1057521714
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) rs151038616
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) rs35875311
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) rs368915464
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001113378.1(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) rs113772230
NM_001114636.1(FANCL):c.-39A>G rs41281511
NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001114636.1(FANCL):c.1064_1065AG[1] (p.Ser356fs) rs750871999
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001114636.1(FANCL):c.217-11T>C rs79588315
NM_001114636.1(FANCL):c.685A>G (p.Thr229Ala) rs149731356
NM_001114636.1(FANCL):c.770T>G (p.Phe257Cys) rs139801716
NM_001114636.1(FANCL):c.791-21dup rs374236117
NM_001114636.1(FANCL):c.984G>A (p.Val328=) rs200819615
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_002693.2(POLG):c.3644-16T>C rs536522307
NM_002693.2(POLG):c.3644-99C>T rs3176241
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) rs4986939
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.1689G>C (p.Arg563=) rs138855718
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.1808C>T (p.Ser603Phe) rs17878854
NM_004629.1(FANCG):c.238C>T (p.Leu80=) rs115131067
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004629.1(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser) rs61753893
NM_020937.4(FANCM):c.2190A>G (p.Gln730=) rs117392855
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036
NM_020937.4(FANCM):c.4222+7T>G rs148675704
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His) rs201803784
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943
NM_020937.4(FANCM):c.4878T>C (p.Asp1626=) rs150389713
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) rs146897650
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=) rs111894696
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala) rs143006771
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1333C>T (p.Pro445Ser) rs141551053
NM_021922.2(FANCE):c.1510-11C>T rs189384185
NM_021922.2(FANCE):c.1572G>A (p.Arg524=) rs115195341
NM_021922.2(FANCE):c.216G>T (p.Pro72=) rs886061328
NM_021922.2(FANCE):c.248+7C>A rs186563531
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.552A>C (p.Pro184=) rs138182352
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.696G>A (p.Glu232=) rs147356927
NM_022725.3(FANCF):c.199A>C (p.Arg67=) rs146647469
NM_022725.3(FANCF):c.350C>T (p.Pro117Leu) rs374572943
NM_022725.3(FANCF):c.373G>A (p.Asp125Asn) rs61752920
NM_022725.3(FANCF):c.387C>T (p.Leu129=) rs45556032
NM_022725.3(FANCF):c.465A>T (p.Pro155=) rs201215734
NM_022725.3(FANCF):c.557C>T (p.Ala186Val) rs113910234
NM_022725.3(FANCF):c.786A>G (p.Leu262=) rs11026706
NM_022725.3(FANCF):c.825G>A (p.Leu275=) rs36045913
NM_022725.3(FANCF):c.96C>T (p.Arg32=) rs151253274
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2100A>T (p.Ser700=) rs757145884
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524
NM_024675.3(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2742C>T (p.Phe914=) rs115759702
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2881C>T (p.Leu961=) rs61755166
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) rs45516100
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) rs45439097
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.765T>C (p.Asp255=) rs45465299
NM_024675.3(PALB2):c.909C>T (p.Leu303=) rs145788619
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_032043.2(BRIP1):c.-31+12G>A rs4988340
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092
NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) rs374335608
NM_032043.2(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032444.4(SLX4):c.*8A>G rs3751839
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1366+11T>C rs76350200
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927
NM_032444.4(SLX4):c.1707G>A (p.Pro569=) rs141687678
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085
NM_032444.4(SLX4):c.1911G>T (p.Ser637=) rs200013924
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244
NM_032444.4(SLX4):c.2235C>T (p.Thr745=) rs75184268
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006
NM_032444.4(SLX4):c.2844G>A (p.Ala948=) rs376877866
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr) rs59939128
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val) rs78637028
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn) rs112596894
NM_032444.4(SLX4):c.3912C>T (p.Val1304=) rs140254478
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=) rs115491049
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=) rs373300793
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser) rs78770603
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070
NM_032444.4(SLX4):c.489T>G (p.Gly163=) rs201211891
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys) rs148547201
NM_033084.5(FANCD2):c.1134+8T>G rs373232961
NM_033084.5(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1336C>G (p.Leu446Val) rs34557223
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.1414-9C>T rs35557429
NM_033084.5(FANCD2):c.1545+9T>C rs769459614
NM_033084.5(FANCD2):c.1656+14T>A rs200473919
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.195G>C (p.Gln65His) rs36084488
NM_033084.5(FANCD2):c.2022-5C>T rs4019784
NM_033084.5(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_033084.5(FANCD2):c.2124T>C (p.Phe708=) rs9809716
NM_033084.5(FANCD2):c.2148C>G (p.Thr716=) rs55856815
NM_033084.5(FANCD2):c.2181G>A (p.Pro727=) rs560600678
NM_033084.5(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_033084.5(FANCD2):c.2702G>T (p.Gly901Val) rs35495399
NM_033084.5(FANCD2):c.2712C>T (p.Asn904=) rs35594075
NM_033084.5(FANCD2):c.2826G>A (p.Thr942=) rs200118565
NM_033084.5(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_033084.5(FANCD2):c.2877A>G (p.Gln959=) rs145953386
NM_033084.5(FANCD2):c.33G>A (p.Glu11=) rs147426418
NM_033084.5(FANCD2):c.378-6_378-5del rs55973240
NM_033084.5(FANCD2):c.491+10G>A rs17032279
NM_033084.5(FANCD2):c.516A>G (p.Ile172Met) rs35173688
NM_033084.5(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033084.5(FANCD2):c.64+12G>C rs9833228
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.3(RAD51C):c.87T>C (p.Ser29=) rs786203249
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895
NM_173472.2(FANCD2OS):c.44-5713G>A rs147675860
Single allele

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