ClinVar Miner

Variants with conflicting interpretations studied for Breast-ovarian cancer, familial 1

Coded as:
Minimum review status of the submission for Breast-ovarian cancer, familial 1: Y axis collection method of the submission for Breast-ovarian cancer, familial 1:
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
1364 2611 30 515 483 6 137 869

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
Breast-ovarian cancer, familial 1 pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor other
pathogenic 2 194 94 6 3 1 1 3 1
likely pathogenic 83 0 34 2 1 1 1 0 0
uncertain significance 77 72 14 387 227 1 1 0 0
likely benign 2 1 233 2 179 0 0 0 0
benign 3 1 217 254 12 0 0 0 0
risk factor 1 0 0 0 0 0 0 0 0

Condition to condition summary #

Total conditions: 324
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
Hereditary cancer-predisposing syndrome 0 1156 0 308 363 1 78 563
not provided 0 868 28 290 298 1 54 463
Breast-ovarian cancer, familial 1 2576 1812 0 195 290 0 79 456
not specified 0 283 0 235 295 1 23 388
Hereditary breast and ovarian cancer syndrome 0 982 0 186 114 0 74 313
Breast and/or ovarian cancer 0 73 0 31 36 0 11 59
Familial cancer of breast 0 221 2 38 18 0 2 41
Neoplasm of the breast 0 54 0 15 20 0 4 33
Breast-ovarian cancer, familial 2 0 13 0 4 0 0 3 6
Ovarian Neoplasms 0 46 0 5 0 1 1 6
Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; FANCONI ANEMIA, COMPLEMENTATION GROUP S 0 25 0 1 1 0 4 5
Breast carcinoma 0 4 0 1 1 0 0 2
Ductal breast carcinoma 0 0 0 0 1 0 1 2
Malignant tumor of prostate 0 0 0 1 2 0 0 2
Ovarian cancer 0 10 0 1 2 0 0 2
breast cancer 0 2 0 2 0 0 0 2
11q partial monosomy syndrome 0 0 0 1 0 0 1 1
16q24.3 microdeletion syndrome 0 0 0 1 0 0 1 1
1p13.3 deletion syndrome 0 0 0 1 0 0 1 1
1q21.1 recurrent microdeletion 0 0 0 1 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 1 0 0 1 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 1 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 1 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 1 0 0 1 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 1 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 1 0 0 1 1
Axenfeld-Rieger syndrome type 3 0 0 0 1 0 0 1 1
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 0 0 1 0 0 1
Barakat syndrome 0 0 0 1 0 0 1 1
Bardet-Biedl syndrome 0 0 0 1 0 0 1 1
Becker muscular dystrophy 0 0 0 1 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 1 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 1 0 0 1 1
Beckwith-Wiedemann syndrome 0 0 0 1 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 1 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 1 0 0 1 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 1 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 1 0 0 1 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 0 0 0 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 1 0 0 1 1
Cancer of the pancreas 0 2 0 1 1 0 0 1
Capillary malformation-arteriovenous malformation 1 0 0 0 1 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 1 0 0 1 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease, type IA 0 0 0 1 0 0 1 1
Cholestasis, progressive familial intrahepatic 1 0 0 0 1 0 0 1 1
Chorioretinal atrophy, progressive bifocal 0 0 0 1 0 0 1 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 1 0 0 1 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 1 0 0 1 1
Chromosome 17p13.1 deletion syndrome 0 0 0 1 0 0 1 1
Chromosome 17q12 duplication syndrome 0 0 0 1 0 0 1 1
Chromosome Xq26.3 duplication syndrome 0 0 0 1 0 0 1 1
Ciliary dyskinesia, primary, 28 0 0 0 1 0 0 1 1
Ciliary dyskinesia, primary, 3 0 0 0 1 0 0 1 1
Citrullinemia type I 0 0 0 1 0 0 1 1
Cleidocranial dysostosis 0 0 0 1 0 0 1 1
Cohen syndrome 0 0 0 1 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 1 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 1 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 1 0 0 1 1
Currarino triad 0 0 0 1 0 0 1 1
Cystic fibrosis 0 0 0 1 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 1 0 0 1 1
Deafness, autosomal recessive 1A 0 0 0 1 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 1 0 0 1 1
Dent disease 1 0 0 0 1 0 0 1 1
Developmental Split Brain Syndrome 0 0 0 1 0 0 1 1
DiGeorge sequence 0 0 0 1 0 0 1 1
Dihydropteridine reductase deficiency 0 0 0 1 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
Dysgerminoma 0 0 0 0 0 1 0 1
Dystonia 0 0 0 1 0 0 1 1
Dystonia; Global developmental delay; Ichthyosis 0 0 0 1 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 1 0 0 1 1
Early infantile epileptic encephalopathy 4 0 0 0 1 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 1 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 1 0 0 1 1
Esophageal atresia; Seizures; Neurodevelopmental delay; Ventricular septal defect 0 0 0 1 0 0 1 1
Exudative vitreoretinopathy 1 0 0 0 1 0 0 1 1
FANCONI ANEMIA, COMPLEMENTATION GROUP S 0 6 0 1 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 1 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 0 0 0 1 0 0 1 1
Fanconi anemia, complementation group A 0 2 0 1 0 0 1 1
Focal seizures 0 0 0 1 0 0 1 1
Fumarase deficiency 0 0 0 1 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
Glioma susceptibility 3 0 0 0 0 0 1 0 1
Global developmental delay 0 0 0 1 1 0 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 1 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 1 0 0 1 1
Gorlin syndrome 0 0 0 1 0 0 1 1
Griscelli syndrome type 2 0 0 0 1 0 0 1 1
Growth abnormality 0 0 0 0 0 0 1 1
Hematologic neoplasm 0 0 0 1 0 0 1 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 0 1 1
Hereditary cutaneous melanoma 0 0 0 1 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 1 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 1 0 0 1 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 1 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 0 1 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 1 0 0 1 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 1 0 0 1 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 1 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 1 0 0 1 1
Inclusion body myositis; GNE myopathy 0 0 0 1 0 0 1 1
Infantile nephronophthisis 0 0 0 1 0 0 1 1
Infantile neuroaxonal dystrophy 0 0 0 1 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 1 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 1 0 0 1 1
Jeune thoracic dystrophy 0 0 0 1 0 0 1 1
Joubert syndrome 0 0 0 1 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 1 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 1 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 1 0 0 1 1
Kleefstra syndrome 2 0 0 0 1 0 0 1 1
Laminin alpha 2-related dystrophy 0 0 0 1 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 1 0 0 1 1
Leri Weill dyschondrosteosis 0 0 0 0 0 0 1 1
Lethal multiple pterygium syndrome 0 0 0 1 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 0 1 1
Lissencephaly; Microcephaly 0 0 0 0 0 1 0 1
Loeys-Dietz syndrome 4 0 0 0 1 0 0 1 1
Long QT syndrome 0 0 0 1 0 0 1 1
Lowe syndrome 0 0 0 1 0 0 1 1
Lung cancer 0 0 0 1 0 0 1 1
MBD5 associated neurodevelopmental disorder 0 0 0 1 0 0 1 1
MECP2 duplication syndrome 0 0 0 1 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
Marfan syndrome 0 0 0 1 0 0 1 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 1 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 1 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 1 0 0 1 1
Mesangiocapillary glomerulonephritis 0 0 0 1 0 0 1 1
Microcephaly, normal intelligence and immunodeficiency 0 0 0 0 0 1 0 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 1 0 0 1 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 1 0 0 1 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 1 0 0 1 1
Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 1 1
Multiple exostoses type 2 0 0 0 1 0 0 1 1
Myoclonic dystonia 0 0 0 1 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 1 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 1 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 1 0 0 1 1
Osteogenesis imperfecta type 10 0 0 0 1 0 0 1 1
Osteogenesis imperfecta type I 0 0 0 1 0 0 1 1
Ovarian cancer; breast cancer 0 0 0 1 0 0 1 1
PTEN hamartoma tumor syndrome 0 0 0 1 0 0 1 1
Pancreatic cancer 4 0 0 0 0 0 1 0 1
Pancreatic cancer, susceptibility to 0 0 0 0 0 1 0 1
Paris-Trousseau thrombocytopenia 0 0 0 1 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 1 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 1 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 1 0 0 1 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 1 0 0 1 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 1 0 0 1 1
Poretti-Boltshauser syndrome 0 0 0 1 0 0 1 1
Prader-Willi syndrome 0 0 0 1 0 0 1 1
Premature ovarian failure 0 0 0 0 0 0 1 1
Premature ovarian insufficiency 0 0 0 1 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 1 0 0 1 1
Pulmonary arterial hypertension 0 0 0 1 0 0 1 1
RHD DEL 0 0 0 1 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 1 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 1 0 0 1 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 1 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 1 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 1 0 0 1 1
See cases 0 0 0 1 0 0 1 1
Seizures 0 0 0 1 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 1 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 1 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 1 0 0 1 1
Spherocytosis type 2 0 0 0 1 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 1 0 0 1 1
Spinocerebellar ataxia 15 0 0 0 1 0 0 1 1
Spinocerebellar ataxia 27 0 0 0 1 0 0 1 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 1 0 0 1 1
Split-hand/foot malformation 0 0 0 1 0 0 1 1
Spondylocostal dysostosis 5 0 0 0 1 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 1 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 1 0 0 1 1
Tuberous sclerosis 2 0 0 0 1 0 0 1 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 1 0 0 1 1
Uniparental disomy, paternal, chromosome 14 0 0 0 1 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 1 0 0 1 1
Visceral myopathy 0 0 0 1 0 0 1 1
Vitamin B2 deficiency 0 0 0 1 0 0 1 1
Wilson disease 0 0 0 1 0 0 1 1
Witteveen-kolk syndrome 0 0 0 0 0 0 1 1
alpha Thalassemia 0 0 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 869
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.3(BRCA2):c.7985C>A (p.Thr2662Lys) rs431825362
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_001024688.2(NBN):c.411_415del (p.Lys137fs) rs587776650
NM_007294.3(BRCA1):c.*1113G>A rs111791349
NM_007294.3(BRCA1):c.*1287C>T rs12516
NM_007294.3(BRCA1):c.*1327G>A rs184237074
NM_007294.3(BRCA1):c.*421G>T rs8176318
NM_007294.3(BRCA1):c.*781C>T rs8176319
NM_007294.3(BRCA1):c.*873del rs59541324
NM_007294.3(BRCA1):c.-19-115T>C rs3765640
NM_007294.3(BRCA1):c.-19-22_-19-21dupAT rs273898667
NM_007294.3(BRCA1):c.-19-3A>G rs273898669
NM_007294.3(BRCA1):c.-19-5T>C rs273898671
NM_007294.3(BRCA1):c.-19-?_80+?dup
NM_007294.3(BRCA1):c.-192T>C rs113323025
NM_007294.3(BRCA1):c.-20+11C>T rs273898672
NM_007294.3(BRCA1):c.-20+185T>G rs55680227
NM_007294.3(BRCA1):c.-20+5T>C rs1057524628
NM_007294.3(BRCA1):c.1001C>T (p.Pro334Leu) rs41286290
NM_007294.3(BRCA1):c.1015A>G (p.Lys339Glu) rs55842957
NM_007294.3(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.3(BRCA1):c.1065G>A (p.Lys355=) rs41286292
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1081T>C (p.Ser361Pro) rs80356946
NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.3(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg) rs80356880
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.1159T>A (p.Ser387Thr) rs876659403
NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.3(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.3(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.3(BRCA1):c.117T>G (p.Cys39Trp) rs886040898
NM_007294.3(BRCA1):c.1222A>G (p.Lys408Glu) rs80357253
NM_007294.3(BRCA1):c.1227A>G (p.Val409=) rs149349675
NM_007294.3(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.3(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.3(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024
NM_007294.3(BRCA1):c.1243G>A (p.Val415Ile) rs587782770
NM_007294.3(BRCA1):c.124A>G (p.Ile42Val) rs80357163
NM_007294.3(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113
NM_007294.3(BRCA1):c.1258G>T (p.Asp420Tyr) rs80357488
NM_007294.3(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.132C>T (p.Cys44=) rs876658362
NM_007294.3(BRCA1):c.133A>C (p.Lys45Gln) rs769650474
NM_007294.3(BRCA1):c.134+111C>T rs8176100
NM_007294.3(BRCA1):c.134+1G>C rs80358043
NM_007294.3(BRCA1):c.134+2T>C rs80358131
NM_007294.3(BRCA1):c.134+2del rs273897657
NM_007294.3(BRCA1):c.134+5G>A rs80358038
NM_007294.3(BRCA1):c.135-15C>G rs397507185
NM_007294.3(BRCA1):c.135-20T>G rs80358025
NM_007294.3(BRCA1):c.135-5T>C rs587781916
NM_007294.3(BRCA1):c.135-8dup rs397507186
NM_007294.3(BRCA1):c.135-?_441+?dup
NM_007294.3(BRCA1):c.1383T>A (p.Phe461Leu) rs56046357
NM_007294.3(BRCA1):c.1392C>T (p.Thr464=) rs533802049
NM_007294.3(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964
NM_007294.3(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030
NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly) rs80357370
NM_007294.3(BRCA1):c.1401G>A (p.Lys467=) rs786201323
NM_007294.3(BRCA1):c.1405G>A (p.Ala469Thr) rs397507187
NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.1418A>G (p.Asn473Ser) rs80357057
NM_007294.3(BRCA1):c.1418A>T (p.Asn473Ile) rs80357057
NM_007294.3(BRCA1):c.1419C>T (p.Asn473=) rs777228325
NM_007294.3(BRCA1):c.1427A>G (p.His476Arg) rs55720177
NM_007294.3(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.3(BRCA1):c.144G>A (p.Met48Ile) rs587783040
NM_007294.3(BRCA1):c.1459G>T (p.Val487Phe) rs369588942
NM_007294.3(BRCA1):c.1467G>A (p.Glu489=) rs794726997
NM_007294.3(BRCA1):c.1470A>G (p.Pro490=) rs775032066
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.3(BRCA1):c.1508A>G (p.Lys503Arg) rs62625304
NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.3(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294
NM_007294.3(BRCA1):c.154C>A (p.Leu52Ile) rs80357084
NM_007294.3(BRCA1):c.154C>T (p.Leu52Phe) rs80357084
NM_007294.3(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122
NM_007294.3(BRCA1):c.1573G>A (p.Val525Ile) rs80357273
NM_007294.3(BRCA1):c.1581G>C (p.Lys527Asn) rs80357493
NM_007294.3(BRCA1):c.1600del (p.Gln534fs) rs869320776
NM_007294.3(BRCA1):c.1601A>G (p.Gln534Arg) rs80357173
NM_007294.3(BRCA1):c.1609A>G (p.Asn537Asp) rs398122639
NM_007294.3(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.3(BRCA1):c.1617G>A (p.Thr539=) rs372002119
NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.3(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159
NM_007294.3(BRCA1):c.1713A>G (p.Ile571Met) rs552505690
NM_007294.3(BRCA1):c.1723dup (p.Glu575fs) rs1555591335
NM_007294.3(BRCA1):c.1747A>G (p.Lys583Glu) rs80356928
NM_007294.3(BRCA1):c.1749A>G (p.Lys583=) rs876659580
NM_007294.3(BRCA1):c.1772T>C (p.Ile591Thr) rs80356859
NM_007294.3(BRCA1):c.1775G>A (p.Ser592Asn) rs786203044
NM_007294.3(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082
NM_007294.3(BRCA1):c.1797T>C (p.Asn599=) rs756211343
NM_007294.3(BRCA1):c.1802A>G (p.His601Arg) rs371631805
NM_007294.3(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.3(BRCA1):c.1834A>G (p.Arg612Gly) rs80357245
NM_007294.3(BRCA1):c.1842G>A (p.Lys614=) rs760109939
NM_007294.3(BRCA1):c.1843_1845TCT[1] (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.3(BRCA1):c.1866G>A (p.Ala622=) rs1800064
NM_007294.3(BRCA1):c.1866G>T (p.Ala622=) rs1800064
NM_007294.3(BRCA1):c.1879G>A (p.Val627Ile) rs80357425
NM_007294.3(BRCA1):c.1893A>G (p.Leu631=) rs80356834
NM_007294.3(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902
NM_007294.3(BRCA1):c.1905T>C (p.Asn635=) rs369373293
NM_007294.3(BRCA1):c.1907G>A (p.Cys636Tyr) rs398122649
NM_007294.3(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.3(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.3(BRCA1):c.1912G>A (p.Glu638Lys) rs80357005
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.3(BRCA1):c.1924G>C (p.Asp642His) rs80357344
NM_007294.3(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter) rs397508926
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.3(BRCA1):c.1974G>C (p.Met658Ile) rs55678461
NM_007294.3(BRCA1):c.1983G>A (p.Arg661=) rs869320788
NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.3(BRCA1):c.2006T>C (p.Met669Thr) rs80356895
NM_007294.3(BRCA1):c.2022T>G (p.Pro674=) rs771519405
NM_007294.3(BRCA1):c.2060A>C (p.Gln687Pro) rs28897680
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2079C>T (p.Asp693=) rs80356835
NM_007294.3(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.3(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.3(BRCA1):c.2086A>G (p.Thr696Ala) rs80357441
NM_007294.3(BRCA1):c.2103G>A (p.Lys701=) rs273898677
NM_007294.3(BRCA1):c.2105T>G (p.Leu702Ter) rs80357298
NM_007294.3(BRCA1):c.212+10T>G rs80358174
NM_007294.3(BRCA1):c.212+23T>A rs8176128
NM_007294.3(BRCA1):c.212+4T>C rs398122652
NM_007294.3(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182
NM_007294.3(BRCA1):c.2123C>T (p.Ser708Phe) rs80357182
NM_007294.3(BRCA1):c.212G>C (p.Arg71Thr) rs80356913
NM_007294.3(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.3(BRCA1):c.213-15A>G rs886040903
NM_007294.3(BRCA1):c.213-161A>G rs799912
NM_007294.3(BRCA1):c.213-8A>C rs80358159
NM_007294.3(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.3(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147
NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.3(BRCA1):c.2175C>T (p.Ser725=) rs273898680
NM_007294.3(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912
NM_007294.3(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.3(BRCA1):c.2222C>T (p.Ser741Phe) rs80357051
NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.3(BRCA1):c.2252T>C (p.Met751Thr) rs587781684
NM_007294.3(BRCA1):c.2268G>C (p.Arg756Ser) rs80356884
NM_007294.3(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682
NM_007294.3(BRCA1):c.231G>A (p.Thr77=) rs80356847
NM_007294.3(BRCA1):c.231G>C (p.Thr77=) rs80356847
NM_007294.3(BRCA1):c.231G>T (p.Thr77=) rs80356847
NM_007294.3(BRCA1):c.2329T>G (p.Tyr777Asp) rs397507199
NM_007294.3(BRCA1):c.2334C>T (p.Gly778=) rs777404687
NM_007294.3(BRCA1):c.2347A>G (p.Ile783Val) rs80356948
NM_007294.3(BRCA1):c.2352G>A (p.Ser784=) rs372017932
NM_007294.3(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005
NM_007294.3(BRCA1):c.2412G>C (p.Gln804His) rs55746541
NM_007294.3(BRCA1):c.2416G>A (p.Ala806Thr) rs80357144
NM_007294.3(BRCA1):c.2426A>G (p.Glu809Gly) rs397507201
NM_007294.3(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682
NM_007294.3(BRCA1):c.243del (p.Gln81fs) rs273899684
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2473G>T (p.Asp825Tyr) rs80357328
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.2481A>C (p.Glu827Asp) rs397508970
NM_007294.3(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal) rs80358331
NM_007294.3(BRCA1):c.2507_2508del (p.Glu836fs) rs273899686
NM_007294.3(BRCA1):c.2518A>T (p.Ser840Cys) rs377475866
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337
NM_007294.3(BRCA1):c.2523G>A (p.Arg841=) rs773013395
NM_007294.3(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684
NM_007294.3(BRCA1):c.2568T>C (p.Tyr856=) rs80356832
NM_007294.3(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927
NM_007294.3(BRCA1):c.2597G>A (p.Arg866His) rs80356911
NM_007294.3(BRCA1):c.2612C>G (p.Pro871Arg) rs799917
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2613G>A (p.Pro871=) rs587782608
NM_007294.3(BRCA1):c.2634A>G (p.Ala878=) rs730881451
NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) rs80357480
NM_007294.3(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.3(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.3(BRCA1):c.267C>G (p.Ile89Met) rs80356963
NM_007294.3(BRCA1):c.2690C>T (p.Pro897Leu) rs587776484
NM_007294.3(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127
NM_007294.3(BRCA1):c.2735A>G (p.Lys912Arg) rs397507204
NM_007294.3(BRCA1):c.2758G>A (p.Val920Ile) rs80357361
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.3(BRCA1):c.2798G>C (p.Gly933Ala) rs80356941
NM_007294.3(BRCA1):c.2809A>T (p.Lys937Ter) rs1555588915
NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) rs80356851
NM_007294.3(BRCA1):c.2860C>T (p.Leu954=) rs730881452
NM_007294.3(BRCA1):c.2865A>T (p.Ser955=) rs748285767
NM_007294.3(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955
NM_007294.3(BRCA1):c.288C>T (p.Asp96=) rs146085503
NM_007294.3(BRCA1):c.2910A>C (p.Lys970Asn) rs431825394
NM_007294.3(BRCA1):c.2912A>G (p.His971Arg) rs1567793641
NM_007294.3(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.3(BRCA1):c.2931A>G (p.Pro977=) rs273899691
NM_007294.3(BRCA1):c.2935C>T (p.Arg979Cys) rs80356970
NM_007294.3(BRCA1):c.2936G>A (p.Arg979His) rs80356985
NM_007294.3(BRCA1):c.2959A>T (p.Lys987Ter) rs878854941
NM_007294.3(BRCA1):c.2963C>T (p.Ser988Leu) rs397507206
NM_007294.3(BRCA1):c.2995C>T (p.Leu999=) rs80356848
NM_007294.3(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del) rs80358333
NM_007294.3(BRCA1):c.2T>C (p.Met1Thr) rs80357111
NM_007294.3(BRCA1):c.3001G>T (p.Glu1001Ter) rs886038007
NM_007294.3(BRCA1):c.301+10G>A rs80358001
NM_007294.3(BRCA1):c.301+1G>A rs587782173
NM_007294.3(BRCA1):c.301+1G>C rs587782173
NM_007294.3(BRCA1):c.301+2dup rs273899694
NM_007294.3(BRCA1):c.301+55G>A rs868735744
NM_007294.3(BRCA1):c.301+7G>A rs80358113
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.3012G>A (p.Glu1004=) rs786201784
NM_007294.3(BRCA1):c.302-1G>T rs80358116
NM_007294.3(BRCA1):c.302-2A>G rs80358011
NM_007294.3(BRCA1):c.302-3C>G rs80358051
NM_007294.3(BRCA1):c.302-70G>A rs147809611
NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) rs56321129
NM_007294.3(BRCA1):c.3041T>C (p.Met1014Thr) rs80357020
NM_007294.3(BRCA1):c.3055A>G (p.Ile1019Val) rs80357311
NM_007294.3(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.3(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049
NM_007294.3(BRCA1):c.3093T>A (p.Ile1031=) rs786204265
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271
NM_007294.3(BRCA1):c.3143G>T (p.Gly1048Val) rs80356899
NM_007294.3(BRCA1):c.3144T>C (p.Gly1048=) rs80356837
NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673
NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.3(BRCA1):c.3226_3227AG[1] (p.Gly1077fs) rs80357635
NM_007294.3(BRCA1):c.3270A>T (p.Gln1090His) rs369925993
NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.3(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449
NM_007294.3(BRCA1):c.3327A>G (p.Lys1109=) rs41293449
NM_007294.3(BRCA1):c.3327_3329del (p.Lys1110del) rs80357575
NM_007294.3(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.3(BRCA1):c.3341_3343AAG[1] (p.Glu1115del) rs80358336
NM_007294.3(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.3(BRCA1):c.3346G>C (p.Val1116Leu) rs55909400
NM_007294.3(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.3(BRCA1):c.3355A>T (p.Thr1119Ser) rs80356949
NM_007294.3(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919
NM_007294.3(BRCA1):c.3367G>T (p.Asp1123Tyr) rs80356867
NM_007294.3(BRCA1):c.3410T>C (p.Met1137Thr) rs80357297
NM_007294.3(BRCA1):c.3415_3417AGT[1] (p.Ser1140del) rs80358337
NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3426A>G (p.Ala1142=) rs80356843
NM_007294.3(BRCA1):c.3432G>A (p.Gln1144=) rs80356922
NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.3(BRCA1):c.3463G>C (p.Asp1155His) rs80357484
NM_007294.3(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3560G>A (p.Ser1187Asn) rs80356975
NM_007294.3(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.3(BRCA1):c.3601G>A (p.Gly1201Ser) rs55725337
NM_007294.3(BRCA1):c.3603T>G (p.Gly1201=) rs80356830
NM_007294.3(BRCA1):c.3636A>G (p.Ser1212=) rs148038877
NM_007294.3(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.3(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.3(BRCA1):c.366T>G (p.Val122=) rs190900046
NM_007294.3(BRCA1):c.3675C>A (p.Cys1225Ter) rs879254023
NM_007294.3(BRCA1):c.3684C>T (p.His1228=) rs786201623
NM_007294.3(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451
NM_007294.3(BRCA1):c.3699A>G (p.Lys1233=) rs368690455
NM_007294.3(BRCA1):c.3702A>G (p.Val1234=) rs587780862
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.370A>G (p.Ile124Val) rs80357448
NM_007294.3(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388
NM_007294.3(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.3(BRCA1):c.3717T>A (p.Ser1239=) rs730881453
NM_007294.3(BRCA1):c.3722C>A (p.Ser1241Tyr) rs80357143
NM_007294.3(BRCA1):c.3724A>G (p.Thr1242Ala) rs80357037
NM_007294.3(BRCA1):c.372C>A (p.Ile124=) rs273900715
NM_007294.3(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.3759T>G (p.Ser1253=) rs80356852
NM_007294.3(BRCA1):c.3774G>A (p.Glu1258=) rs431825399
NM_007294.3(BRCA1):c.3776A>C (p.Asn1259Thr) rs483353090
NM_007294.3(BRCA1):c.3783A>G (p.Leu1261=) rs80356831
NM_007294.3(BRCA1):c.378A>G (p.Gln126=) rs786201256
NM_007294.3(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160
NM_007294.3(BRCA1):c.3804T>C (p.Asn1268=) rs140588714
NM_007294.3(BRCA1):c.3815A>G (p.Asn1272Ser) rs772703445
NM_007294.3(BRCA1):c.3818A>G (p.Gln1273Arg) rs431825400
NM_007294.3(BRCA1):c.3835G>A (p.Ala1279Thr) rs80357036
NM_007294.3(BRCA1):c.3845A>T (p.Glu1282Val) rs80357217
NM_007294.3(BRCA1):c.3848A>G (p.His1283Arg) rs80357047
NM_007294.3(BRCA1):c.3858T>C (p.Ser1286=) rs794726998
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.389A>T (p.Tyr130Phe) rs56055578
NM_007294.3(BRCA1):c.3900C>T (p.Cys1300=) rs730881454
NM_007294.3(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.3(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257
NM_007294.3(BRCA1):c.3944C>G (p.Pro1315Arg) rs80357500
NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter) rs80357343
NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.3(BRCA1):c.397C>T (p.Arg133Cys) rs80357457
NM_007294.3(BRCA1):c.398G>A (p.Arg133His) rs80357357
NM_007294.3(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4026A>G (p.Ser1342=) rs80356828
NM_007294.3(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345
NM_007294.3(BRCA1):c.4047G>A (p.Thr1349=) rs758515222
NM_007294.3(BRCA1):c.4050_4051insG (p.Leu1351fs) rs483353092
NM_007294.3(BRCA1):c.4060_4062AAT[1] (p.Asn1355del) rs80358341
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.4074G>A (p.Glu1358=) rs80356846
NM_007294.3(BRCA1):c.4081A>C (p.Met1361Leu) rs80357218
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.3(BRCA1):c.4097-11T>C rs80358072
NM_007294.3(BRCA1):c.4097-141A>C rs799916
NM_007294.3(BRCA1):c.4097-20C>T rs80358169
NM_007294.3(BRCA1):c.4097-7A>G rs80358007
NM_007294.3(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034
NM_007294.3(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986
NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.3(BRCA1):c.4146C>A (p.Cys1382Ter) rs1057517574
NM_007294.3(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648
NM_007294.3(BRCA1):c.4181C>T (p.Thr1394Ile) rs397507226
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4184A>G (p.Gln1395Arg) rs80356972
NM_007294.3(BRCA1):c.4185+10G>A rs80358104
NM_007294.3(BRCA1):c.4185+10G>C rs80358104
NM_007294.3(BRCA1):c.4185+21_4185+22dupTG rs273900723
NM_007294.3(BRCA1):c.4185+9C>T rs80358034
NM_007294.3(BRCA1):c.4186-10G>A rs80358172
NM_007294.3(BRCA1):c.4186-11C>T rs80358080
NM_007294.3(BRCA1):c.4186-19C>T rs80358016
NM_007294.3(BRCA1):c.4186-2483A>G rs8176177
NM_007294.3(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365
NM_007294.3(BRCA1):c.4209C>T (p.Asn1403=) rs786201224
NM_007294.3(BRCA1):c.420T>C (p.Ser140=) rs730881448
NM_007294.3(BRCA1):c.4213A>G (p.Ile1405Val) rs80357353
NM_007294.3(BRCA1):c.4243G>T (p.Glu1415Ter) rs1057519558
NM_007294.3(BRCA1):c.4245A>G (p.Glu1415=) rs41293453
NM_007294.3(BRCA1):c.4251G>A (p.Val1417=) rs777057839
NM_007294.3(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.3(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013
NM_007294.3(BRCA1):c.4262A>G (p.His1421Arg) rs80357079
NM_007294.3(BRCA1):c.42C>A (p.Val14=) rs80356827
NM_007294.3(BRCA1):c.42C>T (p.Val14=) rs80356827
NM_007294.3(BRCA1):c.4314C>G (p.Ala1438=) rs80356856
NM_007294.3(BRCA1):c.4328G>A (p.Arg1443Gln) rs4986849
NM_007294.3(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486
NM_007294.3(BRCA1):c.4343G>A (p.Ser1448Asn) rs80357354
NM_007294.3(BRCA1):c.4344C>T (p.Ser1448=) rs1250691798
NM_007294.3(BRCA1):c.4347A>G (p.Thr1449=) rs80356840
NM_007294.3(BRCA1):c.4357+117G>A rs3737559
NM_007294.3(BRCA1):c.4357+1G>C rs80358027
NM_007294.3(BRCA1):c.4357+2T>G rs80358152
NM_007294.3(BRCA1):c.4357+6T>C rs80358143
NM_007294.3(BRCA1):c.4357+7A>G rs431825407
NM_007294.3(BRCA1):c.4358-10C>T rs80358111
NM_007294.3(BRCA1):c.4358-?_5074+?del
NM_007294.3(BRCA1):c.4361T>C (p.Val1454Ala) rs587782606
NM_007294.3(BRCA1):c.4392T>A (p.Pro1464=) rs794727102
NM_007294.3(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.3(BRCA1):c.43A>C (p.Ile15Leu) rs80357031
NM_007294.3(BRCA1):c.4402A>C (p.Asn1468His) rs80357022
NM_007294.3(BRCA1):c.441+17T>C rs368415464
NM_007294.3(BRCA1):c.441+18C>T rs371973519
NM_007294.3(BRCA1):c.441+1G>A rs397509172
NM_007294.3(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075
NM_007294.3(BRCA1):c.4419T>A (p.Ser1473=) rs730881455
NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) rs748876625
NM_007294.3(BRCA1):c.442-1G>T rs1351019392
NM_007294.3(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.3(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489
NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala) rs397507233
NM_007294.3(BRCA1):c.4484+5G>A
NM_007294.3(BRCA1):c.4484+5G>C rs886040910
NM_007294.3(BRCA1):c.4484+61G>T rs80358185
NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.3(BRCA1):c.4485-10A>G rs863224420
NM_007294.3(BRCA1):c.4485-18T>A rs80358000
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.4485-63C>G rs273900734
NM_007294.3(BRCA1):c.4485-8C>T rs397507234
NM_007294.3(BRCA1):c.4516del (p.Asp1506fs) rs273900736
NM_007294.3(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470
NM_007294.3(BRCA1):c.4532dup (p.His1511fs) rs1555582009
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4544G>A (p.Gly1515Glu) rs398122688
NM_007294.3(BRCA1):c.4565A>G (p.Tyr1522Cys) rs80357379
NM_007294.3(BRCA1):c.457A>C (p.Ser153Arg) rs28897674
NM_007294.3(BRCA1):c.4585A>G (p.Ile1529Val) rs80357095
NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.3(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457
NM_007294.3(BRCA1):c.4636G>T (p.Asp1546Tyr) rs28897691
NM_007294.3(BRCA1):c.4638T>G (p.Asp1546Glu) rs397507235
NM_007294.3(BRCA1):c.463C>G (p.Gln155Glu) rs80357180
NM_007294.3(BRCA1):c.4643C>T (p.Thr1548Met) rs273900737
NM_007294.3(BRCA1):c.4644G>A (p.Thr1548=) rs28897692
NM_007294.3(BRCA1):c.4653T>C (p.Ser1551=) rs587780863
NM_007294.3(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.3(BRCA1):c.4657T>A (p.Leu1553Met) rs80357431
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4675+1G>C rs80358044
NM_007294.3(BRCA1):c.4675+3A>T rs80358082
NM_007294.3(BRCA1):c.4675+7T>C rs273900739
NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988
NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.3(BRCA1):c.4676-11A>G rs80358088
NM_007294.3(BRCA1):c.4676-16C>G rs80358067
NM_007294.3(BRCA1):c.4676-1G>A rs80358008
NM_007294.3(BRCA1):c.4676-2A>G rs80358096
NM_007294.3(BRCA1):c.4676-7C>T rs80358005
NM_007294.3(BRCA1):c.4676-8C>G rs80358021
NM_007294.3(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909
NM_007294.3(BRCA1):c.4750G>T (p.Ala1584Ser) rs80357070
NM_007294.3(BRCA1):c.4766G>A (p.Arg1589His) rs80357341
NM_007294.3(BRCA1):c.4767T>G (p.Arg1589=) rs587780864
NM_007294.3(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468
NM_007294.3(BRCA1):c.4803A>G (p.Lys1601=) rs886037794
NM_007294.3(BRCA1):c.4810del (p.Gln1604fs) rs1555580900
NM_007294.3(BRCA1):c.4813T>C (p.Leu1605=) rs80356833
NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.3(BRCA1):c.4833C>T (p.Ala1611=) rs80356842
NM_007294.3(BRCA1):c.4834_4835del (p.Gln1612fs) rs1555580840
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.3(BRCA1):c.4845T>C (p.Ala1615=) rs144588397
NM_007294.3(BRCA1):c.4860T>C (p.Thr1620=) rs750938749
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.3(BRCA1):c.4885dup (p.Glu1629fs) rs886040254
NM_007294.3(BRCA1):c.4893T>C (p.Ser1631=) rs80356850
NM_007294.3(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771
NM_007294.3(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.3(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048
NM_007294.3(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661
NM_007294.3(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.3(BRCA1):c.4941C>A (p.Asn1647Lys) rs80357302
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.4985T>C (p.Phe1662Ser) rs28897695
NM_007294.3(BRCA1):c.4986+1349G>T rs8176225
NM_007294.3(BRCA1):c.4986+1G>A rs80358162
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>C rs80358087
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.4987-1060G>A rs145869415
NM_007294.3(BRCA1):c.4987-11T>C rs80358170
NM_007294.3(BRCA1):c.4987-20A>G rs80358035
NM_007294.3(BRCA1):c.4987-2A>G rs397509212
NM_007294.3(BRCA1):c.4987-5T>C rs397509214
NM_007294.3(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.3(BRCA1):c.4991T>C (p.Leu1664Pro) rs80357314
NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) rs142459158
NM_007294.3(BRCA1):c.4993G>A (p.Val1665Met) rs80357169
NM_007294.3(BRCA1):c.4997dup (p.Tyr1666Ter) rs876658947
NM_007294.3(BRCA1):c.5014_5016CAC[1] (p.His1673del) rs80358343
NM_007294.3(BRCA1):c.5022C>T (p.Ile1674=) rs786203868
NM_007294.3(BRCA1):c.5024C>T (p.Thr1675Ile) rs150729791
NM_007294.3(BRCA1):c.5044G>A (p.Glu1682Lys) rs80356958
NM_007294.3(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.3(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043
NM_007294.3(BRCA1):c.5054_5057dup (p.Val1687fs) rs879254050
NM_007294.3(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.3(BRCA1):c.5059_5061GTT[1] (p.Val1688del) rs80358344
NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.3(BRCA1):c.5074+1G>T rs80358053
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5074+5A>T rs431825411
NM_007294.3(BRCA1):c.5074+6C>G rs80358032
NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5075-2del rs886040913
NM_007294.3(BRCA1):c.5075-53C>T rs8176258
NM_007294.3(BRCA1):c.5075-6C>A rs397507240
NM_007294.3(BRCA1):c.5075-9A>T rs80358059
NM_007294.3(BRCA1):c.5075-?_5277+?dup203
NM_007294.3(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.3(BRCA1):c.508C>T (p.Arg170Trp) rs80357325
NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.3(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.509G>A (p.Arg170Gln) rs80357264
NM_007294.3(BRCA1):c.5100A>G (p.Thr1700=) rs45519437
NM_007294.3(BRCA1):c.5113C>T (p.Leu1705=) rs80356858
NM_007294.3(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.3(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.3(BRCA1):c.5124G>A (p.Ala1708=) rs1057520432
NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.3(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.3(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.3(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.3(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.3(BRCA1):c.5152+10A>G rs80358114
NM_007294.3(BRCA1):c.5152+1G>A rs80358094
NM_007294.3(BRCA1):c.5152+20T>A rs376836050
NM_007294.3(BRCA1):c.5152+2dupT rs397509231
NM_007294.3(BRCA1):c.5152+5G>A rs80358165
NM_007294.3(BRCA1):c.5152+7A>G rs80358046
NM_007294.3(BRCA1):c.5152+85del rs8176259
NM_007294.3(BRCA1):c.5153-13A>G rs45471406
NM_007294.3(BRCA1):c.5153-1G>C rs80358137
NM_007294.3(BRCA1):c.5153-26A>G rs80358109
NM_007294.3(BRCA1):c.5153-2A>G rs786202545
NM_007294.3(BRCA1):c.5153-3T>C rs375639469
NM_007294.3(BRCA1):c.5153-6C>A rs80358129
NM_007294.3(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.3(BRCA1):c.5156del (p.Val1719fs) rs1057517590
NM_007294.3(BRCA1):c.5157G>T (p.Val1719=) rs28897697
NM_007294.3(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5175A>G (p.Glu1725=) rs191373374
NM_007294.3(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501
NM_007294.3(BRCA1):c.5186del (p.Leu1729fs) rs398122692
NM_007294.3(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171
NM_007294.3(BRCA1):c.5191G>A (p.Glu1731Lys) rs397507244
NM_007294.3(BRCA1):c.5193+11G>T rs1567768534
NM_007294.3(BRCA1):c.5193+1G>T rs80358004
NM_007294.3(BRCA1):c.5193+3_5193+15del rs273901752
NM_007294.3(BRCA1):c.5193G>A (p.Glu1731=) rs876660702
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5194-18G>T rs80358090
NM_007294.3(BRCA1):c.5194-2A>G rs80358069
NM_007294.3(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.3(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.3(BRCA1):c.5216A>T (p.Asp1739Val) rs80357227
NM_007294.3(BRCA1):c.522A>G (p.Gln174=) rs765432756
NM_007294.3(BRCA1):c.5242G>C (p.Gly1748Arg) rs397507245
NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.3(BRCA1):c.5246C>G (p.Pro1749Arg) rs80357462
NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.3(BRCA1):c.5256A>C (p.Ala1752=) rs80356844
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5277+1del rs273901754
NM_007294.3(BRCA1):c.5277+48_5277+59dup rs572766355
NM_007294.3(BRCA1):c.5277+78G>A rs80358107
NM_007294.3(BRCA1):c.5277G>A (p.Lys1759=) rs80356854
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.3(BRCA1):c.528G>A (p.Thr176=) rs34545365
NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.3(BRCA1):c.5304C>T (p.Cys1768=) rs138493864
NM_007294.3(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.3(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.3(BRCA1):c.5317A>T (p.Thr1773Ser) rs80357324
NM_007294.3(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.3(BRCA1):c.5328C>T (p.Pro1776=) rs759867616
NM_007294.3(BRCA1):c.5332+13G>T rs372391060
NM_007294.3(BRCA1):c.5332+15G>C rs80358148
NM_007294.3(BRCA1):c.5332+1G>T rs80358041
NM_007294.3(BRCA1):c.5332+2T>C rs80358182
NM_007294.3(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.3(BRCA1):c.5333-1G>A rs80358126
NM_007294.3(BRCA1):c.5333-1G>T rs80358126
NM_007294.3(BRCA1):c.5333-221C>A rs8176304
NM_007294.3(BRCA1):c.5333-304G>A rs55633264
NM_007294.3(BRCA1):c.5333-3T>G rs397509265
NM_007294.3(BRCA1):c.5333-8C>T rs80358084
NM_007294.3(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041
NM_007294.3(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474
NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.3(BRCA1):c.5359T>A (p.Cys1787Ser) rs80357065
NM_007294.3(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.3(BRCA1):c.5365G>T (p.Ala1789Ser) rs80357078
NM_007294.3(BRCA1):c.5390C>T (p.Ser1797Leu) rs879255492
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.3(BRCA1):c.5406+53A>T rs273901766
NM_007294.3(BRCA1):c.5406+5G>A rs80358073
NM_007294.3(BRCA1):c.5406+5G>C rs80358073
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5406+68T>C rs8176307
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.5406+9T>C rs80358040
NM_007294.3(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_007294.3(BRCA1):c.5407-21C>T rs273901768
NM_007294.3(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.3(BRCA1):c.5412C>T (p.Val1804=) rs730881456
NM_007294.3(BRCA1):c.5416C>G (p.Pro1806Ala) rs80357241
NM_007294.3(BRCA1):c.5425G>T (p.Val1809Phe) rs28897698
NM_007294.3(BRCA1):c.5427dup (p.Val1810fs) rs1555574739
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.5464_5465insT (p.His1822fs) rs273902769
NM_007294.3(BRCA1):c.5466T>C (p.His1822=) rs886052975
NM_007294.3(BRCA1):c.5467+1G>A rs80358145
NM_007294.3(BRCA1):c.5467+2T>C rs80358009
NM_007294.3(BRCA1):c.5467+8G>A rs80358062
NM_007294.3(BRCA1):c.5467+9C>T rs80358031
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.5468-10_5468-9del rs273902770
NM_007294.3(BRCA1):c.5468-18T>A rs80358157
NM_007294.3(BRCA1):c.5468-1G>A rs80358048
NM_007294.3(BRCA1):c.5468-268A>C rs181430678
NM_007294.3(BRCA1):c.5468-2A>G rs398122699
NM_007294.3(BRCA1):c.547+146A>T rs8176140
NM_007294.3(BRCA1):c.547+14del rs273902771
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.547+1G>T rs80358030
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.548-12G>A rs80358164
NM_007294.3(BRCA1):c.548-13G>T rs80358115
NM_007294.3(BRCA1):c.548-16G>A rs80358171
NM_007294.3(BRCA1):c.548-3T>C rs397507252
NM_007294.3(BRCA1):c.548-3delT rs398122353
NM_007294.3(BRCA1):c.548-80T>C rs8176143
NM_007294.3(BRCA1):c.548-9delA rs273902774
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.3(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.3(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107
NM_007294.3(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.3(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323
NM_007294.3(BRCA1):c.5532C>T (p.Leu1844=) rs80356829
NM_007294.3(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.3(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.3(BRCA1):c.5550G>A (p.Leu1850=) rs786201502
NM_007294.3(BRCA1):c.5556C>G (p.Thr1852=) rs80356841
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.3(BRCA1):c.5566C>T (p.Pro1856Ser) rs80357274
NM_007294.3(BRCA1):c.5572A>C (p.Ile1858Leu) rs765656957
NM_007294.3(BRCA1):c.5573T>C (p.Ile1858Thr) rs755427809
NM_007294.3(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.3(BRCA1):c.5586C>T (p.His1862=) rs774127304
NM_007294.3(BRCA1):c.564A>G (p.Glu188=) rs768065826
NM_007294.3(BRCA1):c.567T>C (p.Asp189=) rs80356845
NM_007294.3(BRCA1):c.572T>A (p.Val191Asp) rs80357142
NM_007294.3(BRCA1):c.593+3G>A rs80358013
NM_007294.3(BRCA1):c.593+4A>G rs80358154
NM_007294.3(BRCA1):c.593+9A>G rs80358133
NM_007294.3(BRCA1):c.594-15G>C rs80358102
NM_007294.3(BRCA1):c.594-20A>G rs80358017
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.594-4A>G rs80358081
NM_007294.3(BRCA1):c.612G>C (p.Leu204Phe) rs80357394
NM_007294.3(BRCA1):c.61A>G (p.Ile21Val) rs80357406
NM_007294.3(BRCA1):c.61del (p.Ile21fs) rs273902778
NM_007294.3(BRCA1):c.641A>G (p.Asp214Gly) rs55680408
NM_007294.3(BRCA1):c.655G>A (p.Asp219Asn) rs273902779
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.661G>T (p.Ala221Ser) rs80357088
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.670+16G>A rs199916228
NM_007294.3(BRCA1):c.670+1G>T rs398122706
NM_007294.3(BRCA1):c.670+1del rs886040922
NM_007294.3(BRCA1):c.670+7G>A rs80358167
NM_007294.3(BRCA1):c.670+8C>T rs80358050
NM_007294.3(BRCA1):c.671-10A>G rs398122707
NM_007294.3(BRCA1):c.671-12del rs273902781
NM_007294.3(BRCA1):c.671-15T>A rs80358058
NM_007294.3(BRCA1):c.671-178G>A rs8176151
NM_007294.3(BRCA1):c.671-18_671-16del rs398122354
NM_007294.3(BRCA1):c.671-1G>T rs80358020
NM_007294.3(BRCA1):c.671-2A>C rs80358108
NM_007294.3(BRCA1):c.671-2A>G rs80358108
NM_007294.3(BRCA1):c.671-8A>G rs80358144
NM_007294.3(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.3(BRCA1):c.692C>T (p.Thr231Met) rs80357001
NM_007294.3(BRCA1):c.694G>A (p.Asp232Asn) rs55975699
NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.3(BRCA1):c.716A>G (p.His239Arg) rs80357396
NM_007294.3(BRCA1):c.742A>C (p.Thr248Pro) rs879255288
NM_007294.3(BRCA1):c.744C>G (p.Thr248=) rs886037791
NM_007294.3(BRCA1):c.754C>T (p.Arg252Cys) rs273902786
NM_007294.3(BRCA1):c.755G>A (p.Arg252His) rs80357138
NM_007294.3(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007294.3(BRCA1):c.786G>A (p.Gln262=) rs397509317
NM_007294.3(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.3(BRCA1):c.80+1G>C rs80358010
NM_007294.3(BRCA1):c.80+1G>T rs80358010
NM_007294.3(BRCA1):c.80+5G>A rs80358045
NM_007294.3(BRCA1):c.80+7C>T rs80358098
NM_007294.3(BRCA1):c.807G>A (p.Leu269=) rs149867679
NM_007294.3(BRCA1):c.81-11del rs273902788
NM_007294.3(BRCA1):c.81-12C>G rs80358055
NM_007294.3(BRCA1):c.81-12del rs273902789
NM_007294.3(BRCA1):c.81-12dupC rs273902789
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.3(BRCA1):c.81-17C>G rs757442952
NM_007294.3(BRCA1):c.81-1G>A rs80358018
NM_007294.3(BRCA1):c.81-20C>T rs80358039
NM_007294.3(BRCA1):c.81-2A>G rs397509326
NM_007294.3(BRCA1):c.81-65G>C rs80358117
NM_007294.3(BRCA1):c.81-6T>C rs80358179
NM_007294.3(BRCA1):c.81-9C>G rs80358127
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.3(BRCA1):c.81T>C (p.Cys27=) rs587780805
NM_007294.3(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_007294.3(BRCA1):c.827C>G (p.Thr276Arg) rs80357436
NM_007294.3(BRCA1):c.828A>G (p.Thr276=) rs186274774
NM_007294.3(BRCA1):c.837T>C (p.His279=) rs775477245
NM_007294.3(BRCA1):c.839C>G (p.Ala280Gly) rs80357199
NM_007294.3(BRCA1):c.889A>C (p.Met297Leu) rs80357196
NM_007294.3(BRCA1):c.891G>A (p.Met297Ile) rs80357103
NM_007294.3(BRCA1):c.93C>G (p.Ile31Met) rs80357000
NM_007294.3(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_007294.3(BRCA1):c.964G>A (p.Ala322Thr) rs80357252
NM_007294.3(BRCA1):c.964G>C (p.Ala322Pro) rs80357252
NM_007294.3(BRCA1):c.969A>T (p.Gly323=) rs45586033
NM_007294.3(BRCA1):c.987T>C (p.Asn329=) rs774849810
NM_007294.3(BRCA1):c.995G>A (p.Arg332Gln) rs80357464
NM_007294.3(BRCA1):c.996G>T (p.Arg332=) rs80356836
NM_007294.3(BRCA1):c.997A>G (p.Thr333Ala) rs786201634
NM_007294.4(BRCA1):c.3714_3747del (p.Gln1240fs) rs886038023
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA rs273900724
NM_007294.4(BRCA1):c.5277+1_5277+6del rs1060502356
NM_007297.4(BRCA1):c.-8+8224C>T rs80358006
NM_007297.4(BRCA1):c.-8+8294A>C rs80358064
NM_007297.4(BRCA1):c.205del (p.Glu69fs) rs762635795
NM_007297.4(BRCA1):c.39_40GT[1] (p.Cys14fs) rs397508912
NM_007297.4(BRCA1):c.407-18del rs398122701
NM_007297.4(BRCA1):c.407-58del rs8176144
NM_007297.4(BRCA1):c.4245dup (p.Tyr1416fs) rs786204267
NM_007297.4(BRCA1):c.4696_4697delinsGCC (p.Ser1566fs) rs730880287
NM_007297.4(BRCA1):c.4835del (p.Pro1612fs) rs879255295
NM_007297.4(BRCA1):c.4909_4910del (p.Thr1637fs) rs879255283
NM_007297.4(BRCA1):c.4992del (p.Lys1664fs) rs730880288
NM_007297.4(BRCA1):c.5342del (p.Cys1781fs) rs397509288
NM_007297.4(BRCA1):c.574del (p.His192fs) rs879255294
NM_007298.3(BRCA1):c.787+1207del rs1555590714
NM_007298.3(BRCA1):c.787+1256dup rs863224510
NM_007298.3(BRCA1):c.787+146del rs1135401839
NM_007298.3(BRCA1):c.787+1559dup rs886040027
NM_007298.3(BRCA1):c.787+1639dup rs397508967
NM_007298.3(BRCA1):c.787+177_787+181del rs1555592744
NM_007298.3(BRCA1):c.787+1843del rs886038002
NM_007298.3(BRCA1):c.787+353dup rs876659327
NM_007298.3(BRCA1):c.787+505del rs80357528
NM_007298.3(BRCA1):c.787+620_787+621del rs879255476
NM_007298.3(BRCA1):c.788-1165del rs1555587944
NM_007298.3(BRCA1):c.788-1212dup rs80357686
NM_007298.3(BRCA1):c.788-1214del rs397509051
NM_007298.3(BRCA1):c.788-1361_788-1358del rs1064794177
NM_007298.3(BRCA1):c.788-1638dup rs886040079
NM_007298.3(BRCA1):c.788-1771del rs397509005
NM_007298.3(BRCA1):c.788-1808_788-1807dup rs80357549
NM_007298.3(BRCA1):c.788-794_788-752dup rs797044631
NM_007298.3(BRCA1):c.788-870dup rs886040154
NM_007299.4(BRCA1):c.*142C>G rs3092995
NM_007299.4(BRCA1):c.*17dup rs397509291
NM_007299.4(BRCA1):c.*38_*45del rs879255287
NM_007299.4(BRCA1):c.*39del rs864622220
NM_007299.4(BRCA1):c.*92dup rs397507254
NM_007299.4(BRCA1):c.1018C>G (p.Arg340Gly) rs41293455
NM_007299.4(BRCA1):c.1048+17A>G rs80358180
NM_007299.4(BRCA1):c.1172+14A>G rs80358022
NM_007299.4(BRCA1):c.1323C>T (p.His441=) rs373686790
NM_007299.4(BRCA1):c.1324G>A (p.Asp442Asn) rs28897691
NM_007299.4(BRCA1):c.1370C>T (p.Thr457Ile) rs56158747
NM_007299.4(BRCA1):c.1675-1G>A rs730881495
NM_007299.4(BRCA1):c.1826T>C (p.Val609Ala) rs80357132
NM_007299.4(BRCA1):c.1895T>C (p.Val632Ala) rs45553935
NM_007299.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007299.4(BRCA1):c.2021-1385A>T rs80358092
NM_007299.4(BRCA1):c.2021-1442G>C rs397509275
NM_007299.4(BRCA1):c.2070A>G (p.Gln690=) rs80357286
NM_007299.4(BRCA1):c.212+21G>A rs80358147
NM_007299.4(BRCA1):c.212+3A>G rs80358083
NM_007299.4(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007299.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007299.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991
NM_007299.4(BRCA1):c.548-17G>T rs80358014
NM_007299.4(BRCA1):c.548-18T>G rs397507251
NM_007299.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007299.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090
NM_007299.4(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007299.4(BRCA1):c.787+1322A>G rs4986844
NM_007299.4(BRCA1):c.787+1420A>C rs397507196
NM_007299.4(BRCA1):c.787+1445T>G rs4986846
NM_007299.4(BRCA1):c.787+1809C>T rs41286300
NM_007299.4(BRCA1):c.788-1830G>T rs80356874
NM_007299.4(BRCA1):c.788-899G>C rs56214134
NM_007299.4(BRCA1):c.804G>A (p.Gly268=) rs147448807
NM_007299.4(BRCA1):c.81-13C>A rs56328013
NM_007299.4(BRCA1):c.876+30G>A rs80358139
NM_007299.4(BRCA1):c.999T>C (p.Ser333=) rs1060915
NM_007300.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007300.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007300.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994
NM_007300.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949
NM_007300.4(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007300.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007300.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168
NM_007300.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108
NM_007300.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007300.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717
NM_007300.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007300.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007300.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007300.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007300.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959
NM_007300.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007300.4(BRCA1):c.4754T>C (p.Leu1585Pro) rs56119278
NM_007300.4(BRCA1):c.4828C>T (p.Arg1610Cys) rs80357002
NM_007300.4(BRCA1):c.4875A>G (p.Gln1625=) rs28897693
NM_007300.4(BRCA1):c.4946T>C (p.Met1649Thr) rs4986854
NM_007300.4(BRCA1):c.5018T>C (p.Met1673Thr) rs80356968
NM_007300.4(BRCA1):c.5068G>T (p.Ala1690Ser) rs80357087
NM_007300.4(BRCA1):c.5137+3A>G rs80358181
NM_007300.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007300.4(BRCA1):c.5373G>A (p.Gly1791=) rs273901761
NM_007300.4(BRCA1):c.5566C>T (p.Arg1856Ter) rs41293465
NM_007300.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007300.4(BRCA1):c.693G>A (p.Thr231=) rs62625298
NM_007300.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007300.4(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_007300.4(BRCA1):c.981A>G (p.Thr327=) rs1800063
Single allele

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