ClinVar Miner

Variants with conflicting interpretations studied for Familial cancer of breast

Coded as:
Minimum review status of the submission for Familial cancer of breast: Y axis collection method of the submission for Familial cancer of breast:
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
1781 2079 23 340 268 21 71 592

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
Familial cancer of breast pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor other
pathogenic 4 119 13 2 3 1 1 17 1
likely pathogenic 93 0 29 2 10 1 1 8 0
uncertain significance 12 33 0 185 41 2 1 1 0
likely benign 1 1 49 2 84 0 0 0 0
benign 0 1 59 115 17 0 0 0 0

Condition to condition summary #

Total conditions: 368
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 1743 6 175 178 0 32 376
not provided 0 976 21 191 89 0 31 298
not specified 0 304 3 113 62 0 9 171
Familial cancer of breast 3907 433 4 71 28 0 15 112
Hereditary breast and ovarian cancer syndrome 0 149 4 62 3 0 5 69
Breast-ovarian cancer, familial 2 0 217 2 52 29 0 3 63
Breast-ovarian cancer, familial 1 0 221 2 38 18 0 2 41
Fanconi anemia 0 29 0 30 11 0 1 40
Neoplasm of the breast 0 32 2 14 11 0 6 32
Breast and/or ovarian cancer 0 38 3 8 2 0 2 14
Pancreatic cancer 3 0 9 0 10 2 4 1 14
Breast cancer, susceptibility to 0 2 0 3 0 10 0 12
Ataxia-telangiectasia syndrome 0 5 0 6 1 0 1 8
Breast and colorectal cancer, susceptibility to 0 3 0 4 0 1 3 8
Colorectal cancer 0 2 0 3 2 0 3 8
CHEK2-Related Cancer Susceptibility 0 2 0 4 1 0 1 6
Leigh syndrome 0 0 0 0 0 0 6 6
Ovarian Neoplasms 0 18 3 2 0 0 1 6
Fanconi anemia, complementation group J 0 49 0 3 2 0 0 5
Neoplasm of ovary 0 21 1 2 2 0 0 5
Familial cancer of breast; Fanconi anemia, complementation group J 0 32 0 1 1 0 2 4
PALB2-Related Disorders 0 1 0 2 0 0 3 4
Prostate cancer, somatic 0 1 0 0 0 0 4 4
Ductal breast carcinoma 0 0 0 0 2 0 1 3
Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 0 35 0 3 0 0 0 3
Fanconi anemia, complementation group N 0 5 0 2 0 0 1 3
Fanconi anemia, complementation group D1 0 1 1 1 0 0 0 2
Hereditary cancer 0 2 0 0 2 0 0 2
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 1 0 2 2
Li-Fraumeni syndrome 2 0 1 0 2 0 0 0 2
Nijmegen breakage syndrome-like disorder 0 0 1 1 0 0 0 2
Prostate cancer, susceptibility to 0 0 0 0 0 2 0 2
Triple-Negative Breast Cancer Finding 0 2 0 0 2 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
Astrocytoma 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
BRCA2-Related Disorders 0 0 1 0 0 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
Breast cancer, early-onset 0 1 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 multiple types, susceptibility to 0 0 0 0 0 1 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
Colorectal cancer, susceptibility to 0 0 0 0 0 1 0 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
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 1 0 1 0 0 1 1
Familial cancer of breast; Fanconi anemia, complementation group N; Pancreatic cancer 3 0 19 0 1 0 0 0 1
Familial cancer of breast; Li-Fraumeni syndrome 2; Hereditary breast and ovarian cancer syndrome 0 0 0 0 0 0 1 1
Familial cancer of breast; Lung cancer; Malignant tumor of prostate; Carcinoma of colon 0 0 0 0 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 A 0 1 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
Gastrointestinal carcinoma; Adrenocortical carcinoma 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 Cancer Syndrome 0 0 1 0 0 0 0 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
Hirschsprung Disease, Dominant 0 0 0 0 0 0 1 1
Hirschsprung disease 0 0 0 1 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 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
Li-Fraumeni syndrome 0 4 0 0 1 0 0 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 0 1 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
MYH-associated polyposis 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 tumor of prostate 0 0 0 0 1 0 0 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
Medullary thyroid carcinoma 0 0 0 1 0 0 0 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 1 0 0 1
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 0 0 0 0 1 0 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
Mirror movements 2 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 endocrine neoplasia 0 0 0 0 0 0 1 1
Multiple endocrine neoplasia, type 1 0 0 0 1 0 0 0 1
Multiple endocrine neoplasia, type 2a 0 0 0 1 0 0 1 1
Multiple endocrine neoplasia, type 2b 0 0 0 1 0 0 1 1
Multiple endocrine neoplasia, type 4 0 0 0 1 0 0 0 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
Osteosarcoma 0 0 0 0 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 2 0 0 0 0 0 1 0 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
Pheochromocytoma 0 0 0 0 0 0 1 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 0 0 0 1 1
Pilocytic astrocytoma 0 0 0 0 1 0 0 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
Porokeratosis punctata palmaris et plantaris 0 0 1 0 0 0 0 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 hypodysplasia/aplasia 1 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 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 1 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
T-cell prolymphocytic leukemia 0 1 0 1 0 0 0 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
Triple-negative breast cancer 0 0 0 0 0 1 0 1
Tuberous sclerosis 2 0 0 0 1 0 0 1 1
Tumor susceptibility linked to germline BAP1 mutations 0 2 0 1 0 0 0 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
bilateral breast cancer 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 592
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.15323G>A rs527236177
NC_012920.1:m.15458T>C rs527236185
NC_012920.1:m.15470T>C rs527236187
NC_012920.1:m.15758A>G rs527236193
NC_012920.1:m.15927G>A rs193303002
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
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.1189C>T (p.Gln397Ter) rs760815829
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) rs55919657
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1818G>A (p.Pro606=) rs76844014
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2738_2742ACTTG[1] (p.Thr915fs) rs786204752
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.316+12A>G rs186419778
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4071A>C (p.Leu1357=) rs140556653
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5195del (p.Leu1732fs) rs587779363
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.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5611_5615AGTAA[1] (p.Lys1872fs) rs80359525
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.3(BRCA2):c.7806-2A>T rs81002836
NM_000059.3(BRCA2):c.7979_7991del (p.Tyr2660fs) rs730881614
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
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.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9501+1G>A rs397508058
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) rs11571832
NM_000059.3(BRCA2):c.9949C>T (p.Leu3317=) rs777488349
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter) rs879254280
NM_000465.4(BARD1):c.1053G>T (p.Thr351=) rs2070096
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242
NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr) rs587781555
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) rs587782333
NM_000465.4(BARD1):c.1147A>T (p.Met383Leu) rs761516178
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250
NM_000465.4(BARD1):c.1325del (p.Pro442fs) rs1060501287
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776
NM_000465.4(BARD1):c.1395+4G>T rs1025329798
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976
NM_000465.4(BARD1):c.1448A>G (p.His483Arg) rs587781874
NM_000465.4(BARD1):c.1479A>G (p.Gln493=) rs375029767
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu) rs386654966
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) rs753479021
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala) rs200254470
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) rs370771157
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.4(BARD1):c.172_173AG[2] (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser) rs587781443
NM_000465.4(BARD1):c.1922G>A (p.Arg641Gln) rs752870879
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.4(BARD1):c.2002-1G>A rs762601855
NM_000465.4(BARD1):c.2002-2A>C rs876658260
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr) rs587782555
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile) rs111367604
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu) rs149262370
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn) rs730881424
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.4(BARD1):c.2296_2297TG[2] (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.252A>G (p.Pro84=) rs786202670
NM_000465.4(BARD1):c.267G>A (p.Pro89=) rs756165637
NM_000465.4(BARD1):c.335G>A (p.Arg112Gln) rs587781591
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491
NM_000465.4(BARD1):c.365-14_365-13dup rs776103948
NM_000465.4(BARD1):c.365-8del rs776103948
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser) rs878854011
NM_000465.4(BARD1):c.465A>G (p.Arg155=) rs730881413
NM_000465.4(BARD1):c.469G>A (p.Val157Ile) rs1553622662
NM_000465.4(BARD1):c.521G>A (p.Ser174Asn) rs1277839212
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys) rs181748854
NM_000465.4(BARD1):c.607G>A (p.Gly203Arg) rs730881415
NM_000465.4(BARD1):c.609A>C (p.Gly203=) rs28997574
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857
NM_000465.4(BARD1):c.627_628del (p.Lys209fs) rs864622223
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu) rs587780035
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro) rs751646468
NM_000465.4(BARD1):c.748T>G (p.Ser250Ala) rs570022823
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) rs146223579
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln) rs587780037
NM_000465.4(BARD1):c.977A>G (p.Asn326Ser) rs779960429
NM_001126112.2(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_001128425.1(MUTYH):c.553C>T (p.Arg185Trp) rs750592289
NM_001330368.2(C11orf65):c.641-22822_641-22814del rs587776547
NM_001351834.2(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_007194.4(CHEK2):c.*18C>T rs17884403
NM_007194.4(CHEK2):c.*7T>C rs121908710
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.-6G>A rs376995740
NM_007194.4(CHEK2):c.1008+13C>T rs193264230
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980
NM_007194.4(CHEK2):c.1096-4T>C rs587782840
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) rs1555913941
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) rs587780170
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) rs587780173
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1259+8A>G rs368388249
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) rs876659422
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+4G>A rs1057522400
NM_007194.4(CHEK2):c.1462-7C>G rs730881707
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=) rs1060502721
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1542+11T>A rs17881716
NM_007194.4(CHEK2):c.1542+6C>T rs1414780425
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=) rs786201796
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013
NM_007194.4(CHEK2):c.231_245CCAAGAACCTGAGGA[1] (p.77_81DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) rs1555932341
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+19T>C rs200501745
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.480_482AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys) rs786203042
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-14C>T rs145754558
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.684-8C>T rs1555921406
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.792+2T>C rs545982789
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-10C>G rs745745105
NM_007194.4(CHEK2):c.847-17T>C rs199780411
NM_007194.4(CHEK2):c.847-6T>G rs1555917050
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
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.1504_1508del (p.Leu502fs) rs80357888
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) rs80356851
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.3226_3227AG[1] (p.Gly1077fs) rs80357635
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.442-?_547+?(2)
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.4987-20A>G rs80358035
NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) rs142459158
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007294.3(BRCA1):c.807G>A (p.Leu269=) rs149867679
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.3(BRCA1):c.828A>G (p.Thr276=) rs186274774
NM_007297.4(BRCA1):c.-8+8224C>T rs80358006
NM_007297.4(BRCA1):c.300+17del rs730881449
NM_007298.3(BRCA1):c.787+353dup rs876659327
NM_007299.4(BRCA1):c.1048+17A>G rs80358180
NM_007299.4(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007299.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
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+1809C>T rs41286300
NM_007299.4(BRCA1):c.804G>A (p.Gly268=) rs147448807
NM_007299.4(BRCA1):c.999T>C (p.Ser333=) rs1060915
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.2566T>C (p.Tyr856His) rs80356892
NM_007300.4(BRCA1):c.4875A>G (p.Gln1625=) rs28897693
NM_007300.4(BRCA1):c.5566C>T (p.Arg1856Ter) rs41293465
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.3(PALB2):c.1042C>A (p.Gln348Lys) rs375699023
NM_024675.3(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.3(PALB2):c.1054G>C (p.Glu352Gln) rs201035780
NM_024675.3(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.3(PALB2):c.109-6_109-4del rs1285099815
NM_024675.3(PALB2):c.1103A>G (p.Asn368Ser) rs1060502799
NM_024675.3(PALB2):c.1163dup (p.Leu389fs) rs869312772
NM_024675.3(PALB2):c.1189A>T (p.Thr397Ser) rs367578415
NM_024675.3(PALB2):c.1192del (p.Val398fs) rs1555461407
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998
NM_024675.3(PALB2):c.1273G>A (p.Val425Met) rs576081828
NM_024675.3(PALB2):c.1281T>C (p.Ala427=) rs138697796
NM_024675.3(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.3(PALB2):c.12T>C (p.Pro4=) rs567706422
NM_024675.3(PALB2):c.12dup (p.Pro5fs) rs879254062
NM_024675.3(PALB2):c.1366G>T (p.Glu456Ter) rs1060502785
NM_024675.3(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.3(PALB2):c.13C>T (p.Pro5Ser) rs377085677
NM_024675.3(PALB2):c.1401C>T (p.Gly467=) rs1555461301
NM_024675.3(PALB2):c.1419A>C (p.Pro473=) rs62625275
NM_024675.3(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1471G>A (p.Ala491Thr) rs577969558
NM_024675.3(PALB2):c.1478C>T (p.Pro493Leu) rs770965402
NM_024675.3(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630
NM_024675.3(PALB2):c.149A>C (p.Lys50Thr) rs763598472
NM_024675.3(PALB2):c.1506G>C (p.Lys502Asn) rs371142570
NM_024675.3(PALB2):c.1538del (p.Thr513fs) rs879253892
NM_024675.3(PALB2):c.1540G>A (p.Gly514Arg) rs756778249
NM_024675.3(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.3(PALB2):c.1564C>T (p.Pro522Ser) rs373876101
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.3(PALB2):c.1606C>T (p.Leu536=) rs151162255
NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu) rs142103232
NM_024675.3(PALB2):c.1611G>A (p.Ser537=) rs730881874
NM_024675.3(PALB2):c.161A>G (p.Glu54Gly) rs730881898
NM_024675.3(PALB2):c.1623G>A (p.Arg541=) rs745665968
NM_024675.3(PALB2):c.1643C>T (p.Ser548Leu) rs1241049372
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.1697G>A (p.Arg566His) rs144617793
NM_024675.3(PALB2):c.1699C>T (p.His567Tyr) rs370422990
NM_024675.3(PALB2):c.172_175delTTGT rs180177143
NM_024675.3(PALB2):c.1753del (p.Asp585fs) rs1555460670
NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn) rs587781954
NM_024675.3(PALB2):c.1767G>A (p.Thr589=) rs769849072
NM_024675.3(PALB2):c.1783G>A (p.Asp595Asn) rs1555460653
NM_024675.3(PALB2):c.1794G>A (p.Leu598=) rs182494675
NM_024675.3(PALB2):c.1810C>T (p.Leu604=) rs144015319
NM_024675.3(PALB2):c.1861C>A (p.Pro621Thr) rs756116550
NM_024675.3(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.3(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.3(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.3(PALB2):c.1935G>A (p.Glu645=) rs141707455
NM_024675.3(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.3(PALB2):c.194C>T (p.Pro65Leu) rs62625272
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.195G>A (p.Pro65=) rs751176316
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) rs180177083
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2067G>A (p.Ser689=) rs371149159
NM_024675.3(PALB2):c.210A>G (p.Ser70=) rs786202650
NM_024675.3(PALB2):c.212-58A>C rs80291632
NM_024675.3(PALB2):c.2130G>A (p.Thr710=) rs774049060
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.3(PALB2):c.2156del (p.Pro719fs) rs876660193
NM_024675.3(PALB2):c.2167A>T (p.Met723Leu) rs876660336
NM_024675.3(PALB2):c.2208C>A (p.Ala736=) rs369113809
NM_024675.3(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524
NM_024675.3(PALB2):c.2230G>A (p.Glu744Lys) rs62625278
NM_024675.3(PALB2):c.2244A>G (p.Thr748=) rs750048627
NM_024675.3(PALB2):c.2256A>G (p.Gly752=) rs147120218
NM_024675.3(PALB2):c.2258G>A (p.Arg753Gln) rs587778586
NM_024675.3(PALB2):c.2267_2283dup (p.His762fs) rs755471995
NM_024675.3(PALB2):c.226A>G (p.Ile76Val) rs541028076
NM_024675.3(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.3(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_024675.3(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.3(PALB2):c.2329G>A (p.Asp777Asn) rs148026749
NM_024675.3(PALB2):c.232G>A (p.Val78Ile) rs515726085
NM_024675.3(PALB2):c.2336C>G (p.Ser779Ter) rs764509489
NM_024675.3(PALB2):c.2360C>T (p.Thr787Ile) rs201042302
NM_024675.3(PALB2):c.2365C>T (p.Leu789=) rs145805054
NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.3(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.3(PALB2):c.2386G>T (p.Gly796Ter) rs180177112
NM_024675.3(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.3(PALB2):c.23C>T (p.Pro8Leu) rs150390726
NM_024675.3(PALB2):c.2411_2412delCT rs747148023
NM_024675.3(PALB2):c.2417C>T (p.Pro806Leu) rs45464991
NM_024675.3(PALB2):c.2438T>C (p.Ile813Thr) rs763191051
NM_024675.3(PALB2):c.2442G>A (p.Glu814=) rs140776736
NM_024675.3(PALB2):c.2456_2463del (p.Lys819fs) rs1555460325
NM_024675.3(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2559C>T (p.Gly853=) rs180177115
NM_024675.3(PALB2):c.2561A>G (p.Asn854Ser) rs146455175
NM_024675.3(PALB2):c.2566C>T (p.Gln856Ter)
NM_024675.3(PALB2):c.2571G>A (p.Leu857=) rs587780821
NM_024675.3(PALB2):c.2576C>A (p.Ser859Ter) rs1057517539
NM_024675.3(PALB2):c.2586+10A>G rs373321719
NM_024675.3(PALB2):c.2587-?_2748+?del
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.3(PALB2):c.2608G>A (p.Val870Ile) rs376641234
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_024675.3(PALB2):c.2686dup (p.Ser896fs) rs1555459954
NM_024675.3(PALB2):c.2725C>G (p.Leu909Val) rs1060502739
NM_024675.3(PALB2):c.2742C>T (p.Phe914=) rs115759702
NM_024675.3(PALB2):c.2743G>A (p.Ala915Thr) rs374736398
NM_024675.3(PALB2):c.2747_2748+4del rs786203892
NM_024675.3(PALB2):c.2748+1G>T rs753153576
NM_024675.3(PALB2):c.2749-18C>T rs182194007
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) rs180177125
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.2834+18A>T rs114491776
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2834+4T>C rs982643702
NM_024675.3(PALB2):c.2835-1G>C rs515726099
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2858A>G (p.Asp953Gly) rs1555459583
NM_024675.3(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_024675.3(PALB2):c.2903C>G (p.Ala968Gly) rs369132015
NM_024675.3(PALB2):c.292A>G (p.Ile98Val) rs587782831
NM_024675.3(PALB2):c.2959_2966dup (p.Glu990fs) rs875989792
NM_024675.3(PALB2):c.2961A>G (p.Gln987=) rs1555459530
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.2964A>G (p.Gln988=) rs777244673
NM_024675.3(PALB2):c.2974_2975dup (p.Met992fs) rs1555459520
NM_024675.3(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.2996+17T>C rs180177128
NM_024675.3(PALB2):c.2996+9del rs769414858
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3103A>G (p.Ile1035Val) rs863224783
NM_024675.3(PALB2):c.3113+5G>C rs876659463
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3130C>T (p.Gln1044Ter) rs766394024
NM_024675.3(PALB2):c.3201+1G>C rs587776423
NM_024675.3(PALB2):c.3202-1G>A rs515726111
NM_024675.3(PALB2):c.3239_3240del (p.Lys1080fs) rs879254060
NM_024675.3(PALB2):c.3244_3245delAG rs886039503
NM_024675.3(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527
NM_024675.3(PALB2):c.3256del (p.Arg1086fs) rs1057517600
NM_024675.3(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793
NM_024675.3(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.3(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs) rs587782337
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) rs45516100
NM_024675.3(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.3(PALB2):c.3350+4A>G rs180177136
NM_024675.3(PALB2):c.3350+5G>A rs587782566
NM_024675.3(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.3(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.3(PALB2):c.3422_3425ACTT[1] (p.Leu1142fs) rs587776424
NM_024675.3(PALB2):c.3425del (p.Leu1142fs) rs1057517563
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.3(PALB2):c.344G>T (p.Gly115Val) rs145598272
NM_024675.3(PALB2):c.3491G>A (p.Trp1164Ter) rs879254113
NM_024675.3(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) rs45439097
NM_024675.3(PALB2):c.3505_3506TC[1] (p.His1170fs) rs587776428
NM_024675.3(PALB2):c.3508C>T (p.His1170Tyr) rs200283306
NM_024675.3(PALB2):c.3525A>G (p.Gln1175=) rs763513849
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.371C>T (p.Thr124Ile) rs45457297
NM_024675.3(PALB2):c.398G>A (p.Ser133Asn) rs864622411
NM_024675.3(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_024675.3(PALB2):c.475G>T (p.Glu159Ter) rs1555461788
NM_024675.3(PALB2):c.48+1G>C rs515726118
NM_024675.3(PALB2):c.48+7G>C rs190626072
NM_024675.3(PALB2):c.495C>T (p.Gly165=) rs200937538
NM_024675.3(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.3(PALB2):c.508A>G (p.Arg170Gly) rs864622622
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.548del (p.Ser183fs) rs1064795953
NM_024675.3(PALB2):c.601dup (p.Ser201fs) rs886041220
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.62T>G (p.Leu21Ter) rs769240800
NM_024675.3(PALB2):c.656A>G (p.Asp219Gly) rs45594034
NM_024675.3(PALB2):c.661G>A (p.Val221Ile) rs1060502773
NM_024675.3(PALB2):c.707dup (p.Leu237fs) rs876658192
NM_024675.3(PALB2):c.718C>A (p.Pro240Thr) rs757567654
NM_024675.3(PALB2):c.721A>G (p.Asn241Asp) rs113217267
NM_024675.3(PALB2):c.727A>C (p.Thr243Pro) rs1060502747
NM_024675.3(PALB2):c.734C>T (p.Ala245Val) rs571063157
NM_024675.3(PALB2):c.758dup (p.Ser254fs) rs515726126
NM_024675.3(PALB2):c.759del (p.Ser254fs) rs1060499830
NM_024675.3(PALB2):c.765T>C (p.Asp255=) rs45465299
NM_024675.3(PALB2):c.769G>A (p.Gly257Ser) rs587780824
NM_024675.3(PALB2):c.801_802dup (p.Lys268fs) rs1555461618
NM_024675.3(PALB2):c.807T>C (p.Gly269=) rs180177093
NM_024675.3(PALB2):c.829G>A (p.Asp277Asn) rs778309339
NM_024675.3(PALB2):c.860dup (p.Ser288fs) rs864622301
NM_024675.3(PALB2):c.892G>A (p.Val298Ile) rs1060502765
NM_024675.3(PALB2):c.899C>T (p.Thr300Ile) rs528541334
NM_024675.3(PALB2):c.908T>C (p.Leu303Pro) rs774057025
NM_024675.3(PALB2):c.909C>T (p.Leu303=) rs145788619
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_024675.3(PALB2):c.928A>G (p.Ser310Gly) rs45561331
NM_024675.3(PALB2):c.940C>T (p.Gln314Ter) rs786203821
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_024675.3(PALB2):c.950C>T (p.Thr317Ile) rs45548638
NM_024675.3(PALB2):c.999C>T (p.Thr333=) rs180177096
NM_032043.2(BRIP1):c.-30-3T>C rs370728413
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.205+1del rs1057517648
NM_032043.2(BRIP1):c.2078_2079delGT
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2097+8A>C rs730881642
NM_032043.2(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.2257+5C>T rs1057523068
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2575+2dup rs1555574711
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.2(BRIP1):c.2990_2993dupCAAA rs771028677
NM_032043.2(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.2(BRIP1):c.3122T>C (p.Met1041Thr) rs761225576
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.2(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923
NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032043.2(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
PALB2:c.2515-1G>T rs587776417
Single allele
m.14766C>T rs193302980
m.15287T>C rs527236044
m.15326A>G rs2853508

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