ClinVar Miner

Variants with conflicting interpretations studied for Familial adenomatous polyposis 1

Coded as:
Minimum review status of the submission for Familial adenomatous polyposis 1: Y axis collection method of the submission for Familial adenomatous polyposis 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
1500 1095 32 102 151 8 22 265

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 adenomatous polyposis 1 pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor other
pathogenic 3 37 8 3 2 1 1 1 0
likely pathogenic 24 0 3 2 1 1 1 1 0
uncertain significance 9 8 28 128 29 0 0 1 3
likely benign 2 0 27 0 41 0 0 0 1
benign 0 0 9 13 2 0 0 0 2
risk factor 1 1 1 1 0 0 0 0 0

Condition to condition summary #

Total conditions: 328
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 0 982 2 38 107 1 8 145
not provided 0 484 31 67 55 1 5 132
not specified 0 206 0 37 60 1 7 99
Familial adenomatous polyposis 1 2541 290 2 13 15 1 3 29
Familial adenomatous polyposis 0 43 1 10 2 1 8 20
APC-Associated Polyposis Disorders 0 25 0 6 9 0 1 15
Familial multiple polyposis syndrome 0 16 1 5 4 1 1 10
Colorectal adenoma 0 6 0 3 6 0 0 7
Familial colorectal cancer 0 1 0 0 0 6 1 7
Neoplasm of the large intestine 0 0 0 4 0 0 0 4
Carcinoma of colon 0 3 1 1 1 1 0 3
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 0 27 0 3 0 0 0 3
Colorectal cancer, susceptibility to 0 12 0 0 1 1 0 2
Gardner syndrome 0 5 1 1 0 0 1 2
11q partial monosomy syndrome 0 0 0 1 0 0 0 1
16q24.3 microdeletion syndrome 0 0 0 1 0 0 0 1
1p13.3 deletion syndrome 0 0 0 1 0 0 0 1
1q21.1 recurrent microdeletion 0 0 0 1 0 0 0 1
1q24q25 microdeletion syndrome 0 0 0 1 0 0 0 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 1 0 0 0 1
Abnormal bleeding 0 0 0 1 0 0 1 1
Abnormal thrombosis; Reduced protein S activity 0 0 0 1 0 0 0 1
Abnormality of esophagus morphology 0 0 0 1 0 0 0 1
Abnormality of the eye 0 0 0 1 0 0 0 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 0 1
Adenocarcinoma of the colon 0 1 1 1 0 0 0 1
Adenomatous polyposis coli with congenital cholesteatoma 0 0 1 1 0 0 0 1
Adenomatous polyposis coli, susceptibility to 0 0 0 0 0 1 0 1
Aminoaciduria 0 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 1 0 0 0 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 0 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 0 1
Autistic behavior; Severe global developmental delay 0 0 0 1 0 0 0 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 0 1
Autosomal recessive congenital ichthyosis 3 0 0 0 1 0 0 0 1
Axenfeld-Rieger syndrome type 3 0 0 0 1 0 0 0 1
Barakat syndrome 0 0 0 1 0 0 0 1
Bardet-Biedl syndrome 0 0 0 1 0 0 0 1
Becker muscular dystrophy 0 0 0 1 0 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 1 0 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 1 0 0 0 1
Beckwith-Wiedemann syndrome 0 0 0 1 0 0 0 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 0 0 1 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 1 0 0 0 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 1 0 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 1 0 0 0 1
Brain malformations and urinary tract defects 0 0 0 1 0 0 0 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 0 0 0 0 1 1
Breast cancer, susceptibility to 0 0 0 0 0 1 0 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Breast-ovarian cancer, familial 2 0 0 0 1 0 0 0 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
Capillary malformation-arteriovenous malformation 1 0 0 0 1 0 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 1 0 0 0 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 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type IA 0 0 0 1 0 0 0 1
Cholestasis, progressive familial intrahepatic 1 0 0 0 1 0 0 0 1
Chorioretinal atrophy, progressive bifocal 0 0 0 1 0 0 0 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 1 0 0 0 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 1 0 0 0 1
Chromosome 17p13.1 deletion syndrome 0 0 0 1 0 0 0 1
Chromosome 17q12 duplication syndrome 0 0 0 1 0 0 0 1
Chromosome Xq26.3 duplication syndrome 0 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 28 0 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 3 0 0 0 1 0 0 0 1
Citrullinemia type I 0 0 0 1 0 0 0 1
Cleidocranial dysostosis 0 0 0 1 0 0 0 1
Cohen syndrome 0 0 0 1 0 0 0 1
Collagen VI-related myopathy 0 0 0 0 0 0 1 1
Colorectal cancer 0 4 0 0 1 0 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 0 1
Cone monochromatism 0 0 0 1 0 0 0 1
Cone/cone-rod dystrophy 0 0 0 1 0 0 0 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 0 1
Cornelia de Lange syndrome 1 0 0 0 1 0 0 0 1
Cornelia de Lange syndrome 5 0 0 0 1 0 0 0 1
Currarino triad 0 0 0 1 0 0 0 1
Cystic fibrosis 0 0 0 1 0 0 0 1
Cystinuria 0 0 0 1 0 0 0 1
Deafness, autosomal dominant 56 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 16 0 0 0 1 0 0 0 1
Deafness, autosomal recessive 1A 0 0 0 1 0 0 0 1
Deep venous thrombosis 0 0 0 1 0 0 0 1
Deletion of long arm of chromosome 18 0 0 0 1 0 0 0 1
Dent disease 1 0 0 0 1 0 0 0 1
Developmental Split Brain Syndrome 0 0 0 1 0 0 0 1
DiGeorge sequence 0 0 0 1 0 0 0 1
Dihydropteridine reductase deficiency 0 0 0 1 0 0 0 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1G 0 0 0 1 0 0 0 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
Ductal breast carcinoma 0 0 0 0 0 0 1 1
Dystonia 0 0 0 1 0 0 0 1
Dystonia; Global developmental delay; Ichthyosis 0 0 0 1 0 0 0 1
Early infantile epileptic encephalopathy 0 0 0 1 0 0 1 1
Early infantile epileptic encephalopathy 4 0 0 0 1 0 0 0 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 0 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 0 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 0 0 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 1 0 0 0 1
Esophageal atresia; Seizures; Neurodevelopmental delay; Ventricular septal defect 0 0 0 1 0 0 0 1
Exudative vitreoretinopathy 1 0 0 0 1 0 0 0 1
Factor X deficiency 0 0 0 1 0 0 0 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 0 1
Familial cancer of breast 0 1 0 1 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 0 1
Fanconi anemia 0 0 0 1 0 0 1 1
Fanconi anemia, complementation group A 0 0 0 1 0 0 0 1
Focal seizures 0 0 0 1 0 0 0 1
Fumarase deficiency 0 0 0 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Gastric polyposis; Duodenal polyposis; Adenomatous colonic polyposis; Intestinal polyp; Hyperplastic colonic polyposis 0 0 1 1 0 0 0 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 0 1
Glioma 0 0 0 1 0 0 0 1
Global developmental delay 0 0 0 1 0 0 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 1 0 0 0 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 0 1
Global developmental delay; Microcephaly; Abnormality of the cerebellum 0 0 0 1 0 0 0 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 0 1
Glycogen storage disease, type II 0 0 0 1 0 0 0 1
Gorlin syndrome 0 0 0 1 0 0 0 1
Griscelli syndrome type 2 0 0 0 1 0 0 0 1
Growth abnormality 0 0 0 0 0 0 1 1
Hematologic neoplasm 0 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 1 0 0 1 0 0 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 0 0 1
Hereditary cutaneous melanoma 0 0 0 1 0 0 0 1
Hereditary factor IX deficiency disease 0 0 0 1 0 0 0 1
Hereditary factor XI deficiency disease 0 0 0 1 0 0 0 1
Hereditary hemorrhagic telangiectasia type 1 0 0 0 1 0 0 0 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 0 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 0 0 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 1 0 0 0 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 1 0 0 0 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 1 0 0 0 1
Idiopathic basal ganglia calcification 1 0 0 0 1 0 0 0 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 0 1
Inclusion body myositis; GNE myopathy 0 0 0 1 0 0 0 1
Infantile nephronophthisis 0 0 0 1 0 0 0 1
Infantile neuroaxonal dystrophy 0 0 0 1 0 0 0 1
Intellectual disability 0 0 0 1 0 0 0 1
Intellectual disability, mild 0 0 0 0 0 0 1 1
Intellectual disability, severe 0 0 0 1 0 0 0 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 0 1
Jeune thoracic dystrophy 0 0 0 1 0 0 0 1
Joubert syndrome 0 0 0 1 0 0 0 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 0 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 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 0 1
Kleefstra syndrome 2 0 0 0 1 0 0 0 1
Laminin alpha 2-related dystrophy 0 0 0 1 0 0 0 1
Leber congenital amaurosis 0 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 0 0 1 1
Leptin receptor deficiency 0 0 0 1 0 0 0 1
Leri Weill dyschondrosteosis 0 0 0 0 0 0 1 1
Lethal multiple pterygium syndrome 0 0 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 0 0 1
Loeys-Dietz syndrome 4 0 0 0 1 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 0 1
Lowe syndrome 0 0 0 1 0 0 0 1
Lung adenocarcinoma 0 0 0 1 0 0 0 1
Lung cancer 0 0 0 1 0 0 0 1
MBD5 associated neurodevelopmental disorder 0 0 0 1 0 0 0 1
MECP2 duplication syndrome 0 0 0 1 0 0 0 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 0 0 0 0 1 1
Macrothrombocytopenia 0 0 0 1 0 0 0 1
Majeed syndrome 0 0 0 1 0 0 0 1
Malignant Colorectal Neoplasm 0 2 1 1 0 0 0 1
Marfan syndrome 0 0 0 1 0 0 0 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 0 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 1 0 0 0 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 0 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 0 1
Mesangiocapillary glomerulonephritis 0 0 0 1 0 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
Mitochondrial complex I deficiency 0 0 0 0 0 0 1 1
Mowat-Wilson syndrome 0 0 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 1 0 0 0 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 1 0 0 0 1
Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 0 1
Multiple exostoses type 2 0 0 0 1 0 0 0 1
Myoclonic dystonia 0 0 0 1 0 0 0 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 0 0 1 1
Myosclerosis 0 0 0 0 0 0 1 1
Myosin storage myopathy 0 0 0 0 0 0 1 1
Nemaline myopathy 6 0 0 0 1 0 0 0 1
Neoplasm of the breast 0 0 0 1 0 0 0 1
Neoplasm of the liver 0 4 0 0 1 0 0 1
Nephronophthisis 0 0 0 0 0 0 1 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 1 0 0 0 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 0 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 0 0 1 1
Optic nerve hypoplasia 0 0 0 1 0 0 0 1
Osteogenesis imperfecta type 10 0 0 0 1 0 0 0 1
Osteogenesis imperfecta type I 0 0 0 1 0 0 0 1
Ovarian cancer; breast cancer 0 0 0 1 0 0 0 1
PTEN hamartoma tumor syndrome 0 0 0 1 0 0 0 1
Paris-Trousseau thrombocytopenia 0 0 0 1 0 0 0 1
Parkinson disease 2 0 0 0 1 0 0 0 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 0 0 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 1 0 0 0 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
Pilocytic astrocytoma 0 0 0 0 1 0 0 1
Pitt-Hopkins-like syndrome 2 0 0 0 1 0 0 0 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 0 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 1 0 0 0 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 1 0 0 0 1
Poretti-Boltshauser syndrome 0 0 0 1 0 0 0 1
Prader-Willi syndrome 0 0 0 1 0 0 0 1
Premature ovarian failure 0 0 0 0 0 0 1 1
Premature ovarian insufficiency 0 0 0 1 0 0 0 1
Primary amenorrhea 0 0 0 0 0 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 0 1
Pseudoxanthoma elasticum 0 0 0 1 0 0 0 1
Pulmonary arterial hypertension 0 0 0 1 0 0 0 1
RHD DEL 0 0 0 1 0 0 0 1
Reduced antithrombin III activity 0 0 0 1 0 0 0 1
Reduced protein S activity 0 0 0 1 0 0 0 1
Renal cyst; Pancreatic cysts 0 0 0 1 0 0 0 1
Renal transitional cell carcinoma 0 0 0 1 0 0 0 1
Retinal dystrophy 0 0 0 1 0 0 0 1
Retinitis pigmentosa 0 0 0 1 0 0 0 1
RhD negative 0 0 0 1 0 0 0 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 1 0 0 0 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 1 0 0 0 1
Rod-cone dystrophy; Hypomagnesemia 0 0 0 1 0 0 0 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 1 0 0 0 1
Scapuloperoneal myopathy 0 0 0 0 0 0 1 1
Schizophrenia 0 0 0 1 0 0 0 1
Schizophrenia 17 0 0 0 1 0 0 0 1
See cases 0 0 0 1 0 0 0 1
Seizures 0 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 0 1 0 0 0 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 0 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 1 0 0 0 1
Skeletal dysplasia 0 0 0 1 0 0 0 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 0 0 1 1
Spastic paraplegia 4, autosomal dominant 0 0 0 1 0 0 0 1
Spherocytosis type 2 0 0 0 1 0 0 0 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 0 1
Spinocerebellar ataxia 15 0 0 0 1 0 0 0 1
Spinocerebellar ataxia 27 0 0 0 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 1 0 0 0 1
Split-hand/foot malformation 0 0 0 1 0 0 0 1
Spondylocostal dysostosis 5 0 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 1 0 0 0 1
Stargardt disease 1 0 0 0 1 0 0 0 1
T-cell acute lymphoblastic leukemia 0 0 0 1 0 0 0 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 0 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 1
Thrombocytopenia 0 0 0 1 0 0 0 1
Treacher Collins syndrome 1 0 0 0 1 0 0 0 1
Trichorhinophalangeal dysplasia type I 0 0 0 1 0 0 0 1
Tuberous sclerosis 2 0 0 0 1 0 0 0 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 1 0 0 0 1
Uniparental disomy, paternal, chromosome 14 0 0 0 1 0 0 0 1
Usher syndrome 0 0 0 1 0 0 0 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1
Vici syndrome 0 0 0 1 0 0 0 1
Visceral myopathy 0 0 0 1 0 0 0 1
Vitamin B2 deficiency 0 0 0 1 0 0 0 1
Wilson disease 0 0 0 1 0 0 0 1
Witteveen-kolk syndrome 0 0 0 0 0 0 1 1
alpha Thalassemia 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 265
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.-30097G>A rs367773779
NM_000038.5(APC):c.-30105C>T rs1057517584
NM_000038.5(APC):c.-30179T>C rs980704771
NM_000038.5(APC):c.-30197C>A rs917976853
NM_000038.5(APC):c.-30352G>T rs948080320
NM_000038.6(APC):c.*248A>G rs186777258
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1246dup (p.Tyr416fs) rs1060503366
NM_000038.6(APC):c.1310C>G (p.Pro437Arg) rs762936223
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.135+8G>C rs1554067166
NM_000038.6(APC):c.1408+5G>A rs779919032
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.6(APC):c.1440A>C (p.Gln480His) rs863224537
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) rs137854580
NM_000038.6(APC):c.1548+17T>C rs367690523
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.1609del (p.Ser537fs) rs863225317
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1626+4C>A rs1202435147
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.1743+6T>C rs766973462
NM_000038.6(APC):c.1744-2A>G rs587783035
NM_000038.6(APC):c.181G>A (p.Ala61Thr) rs786201989
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) rs863225319
NM_000038.6(APC):c.1927T>C (p.Ser643Pro) rs78349383
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.1957A>G (p.Arg653Gly) rs1114167580
NM_000038.6(APC):c.1958+10G>T rs375175370
NM_000038.6(APC):c.1958+1_1958+4dup rs1060503356
NM_000038.6(APC):c.1958+5A>G rs762899641
NM_000038.6(APC):c.1958+6T>C rs368421386
NM_000038.6(APC):c.1958G>A (p.Arg653Lys) rs1060503318
NM_000038.6(APC):c.1958G>T (p.Arg653Met) rs1060503318
NM_000038.6(APC):c.1959-1G>A rs863225321
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.1962A>G (p.Gln654=) rs1057523515
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) rs876658289
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.220+4G>A rs973491846
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261
NM_000038.6(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.6(APC):c.221-2A>G rs786201291
NM_000038.6(APC):c.2222A>G (p.Asn741Ser) rs150209825
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879
NM_000038.6(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732
NM_000038.6(APC):c.2658G>T (p.Gln886His) rs587780593
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) rs199740875
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.2838A>G (p.Thr946=) rs142835322
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.6(APC):c.288T>A (p.Tyr96Ter) rs376213437
NM_000038.6(APC):c.2948T>C (p.Ile983Thr) rs113674464
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.298del (p.Glu100fs) rs1064794224
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) rs730881244
NM_000038.6(APC):c.3298_3301del (p.Ser1100fs) rs863225341
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser) rs151286353
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3342A>G (p.Arg1114=) rs786201145
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3393A>G (p.Gln1131=) rs545574962
NM_000038.6(APC):c.3462_3464AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3512G>A (p.Arg1171His) rs372481703
NM_000038.6(APC):c.3612A>G (p.Gln1204=) rs864622196
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660
NM_000038.6(APC):c.3750A>G (p.Lys1250=) rs142728143
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.3793_3794insCTT (p.Glu1265delinsAlaTer)
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324
NM_000038.6(APC):c.385G>C (p.Glu129Gln) rs376628500
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994
NM_000038.6(APC):c.3910A>G (p.Ile1304Val) rs770157475
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs) rs1064794229
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.6(APC):c.4311A>G (p.Lys1437=) rs371784771
NM_000038.6(APC):c.4332A>G (p.Gln1444=) rs748342378
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala) rs587780597
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.4349G>A (p.Arg1450Gln) rs587782678
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4375_4377del (p.Thr1459del) rs386833393
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser) rs756048549
NM_000038.6(APC):c.4384A>G (p.Lys1462Glu) rs202204285
NM_000038.6(APC):c.4413A>G (p.Ala1471=) rs964029262
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626
NM_000038.6(APC):c.4666dup (p.Thr1556fs) rs587783031
NM_000038.6(APC):c.4669A>G (p.Ile1557Val) rs763578917
NM_000038.6(APC):c.4702_4704GAT[3] (p.Asp1571del) rs587782888
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.4902G>A (p.Pro1634=) rs876659202
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.6(APC):c.4913T>C (p.Met1638Thr) rs201797422
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958
NM_000038.6(APC):c.5001T>A (p.Asn1667Lys) rs1131691138
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer) rs886039642
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser) rs141298709
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075
NM_000038.6(APC):c.524_531+4del rs863225364
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5264C>T (p.Ala1755Val) rs771967537
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.531+3A>C rs1114167550
NM_000038.6(APC):c.531+5G>C rs587779798
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.5337A>G (p.Ile1779Met) rs748063409
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097
NM_000038.6(APC):c.53T>A (p.Met18Lys) rs200960071
NM_000038.6(APC):c.5421_5423CAA[1] (p.Asn1808del) rs587782002
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) rs149828124
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) rs587779799
NM_000038.6(APC):c.564A>G (p.Gln188=) rs377493489
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.6(APC):c.5708A>G (p.Asn1903Ser) rs750404000
NM_000038.6(APC):c.5752A>G (p.Ile1918Val) rs776966222
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6099_6100CT[1] (p.Asp2033_Ser2034insTer) rs886039638
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.6(APC):c.6381A>G (p.Gln2127=) rs765256868
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.646C>G (p.Arg216Gly) rs62619935
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760
NM_000038.6(APC):c.6554G>A (p.Ser2185Asn) rs764255983
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.6(APC):c.6610C>T (p.Arg2204Ter) rs752654519
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.6(APC):c.6887G>A (p.Ser2296Asn) rs919611781
NM_000038.6(APC):c.6903A>G (p.Arg2301=) rs1057520984
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.695G>A (p.Arg232Gln) rs201727026
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) rs1057517549
NM_000038.6(APC):c.6976C>T (p.Arg2326Ter) rs1060503355
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493
NM_000038.6(APC):c.7032A>G (p.Gln2344=) rs753728632
NM_000038.6(APC):c.7049C>T (p.Ser2350Phe) rs75207119
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.7109G>T (p.Gly2370Val) rs140079759
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.6(APC):c.7475_7476CT[1] (p.Leu2493fs) rs1554088391
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.6(APC):c.7533C>T (p.Leu2511=) rs1057522957
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.6(APC):c.7574G>A (p.Arg2525His) rs762034315
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000038.6(APC):c.75A>G (p.Gln25=) rs876659361
NM_000038.6(APC):c.7621A>G (p.Ile2541Val) rs587778033
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793
NM_000038.6(APC):c.7632A>G (p.Ser2544=) rs749324187
NM_000038.6(APC):c.7692dup (p.Arg2565fs) rs1554088600
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile) rs199806334
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly) rs200406572
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile) rs587781816
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.7872T>C (p.Asn2624=) rs1298254479
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874
NM_000038.6(APC):c.7903A>G (p.Thr2635Ala) rs886059799
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072
NM_000038.6(APC):c.8010A>G (p.Arg2670=) rs786201524
NM_000038.6(APC):c.8043G>A (p.Pro2681=) rs149347068
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128
NM_000038.6(APC):c.8134C>T (p.Pro2712Ser) rs76933416
NM_000038.6(APC):c.8141G>A (p.Arg2714His) rs747362422
NM_000038.6(APC):c.8146G>A (p.Val2716Met) rs587778044
NM_000038.6(APC):c.8181G>A (p.Gln2727=) rs756467505
NM_000038.6(APC):c.8199A>G (p.Gln2733=) rs372365378
NM_000038.6(APC):c.8213T>C (p.Ile2738Thr) rs863224552
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046
NM_000038.6(APC):c.835-3T>C rs372090940
NM_000038.6(APC):c.835-4T>G rs756807560
NM_000038.6(APC):c.835-7T>G rs1554079128
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala) rs587780608
NM_000038.6(APC):c.841A>G (p.Thr281Ala) rs769727966
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser) rs758044862
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000038.6(APC):c.933+30A>G rs145211300
NM_000038.6(APC):c.933+5C>A rs573528468
NM_000038.6(APC):c.934-2A>G rs1554079938
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537
NM_001127511.3(APC):c.-190G>A rs879253785
NM_001127511.3(APC):c.-192A>G rs879253784
NM_001127511.3(APC):c.119G>C (p.Ser40Thr) rs587778028
NM_001127511.3(APC):c.125G>A (p.Gly42Asp) rs1057517570
Single allele

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