ClinVar Miner

Variants with conflicting interpretations studied for Hereditary nonpolyposis colon cancer

Coded as:
Minimum review status of the submission for Hereditary nonpolyposis colon cancer: Y axis collection method of the submission for Hereditary nonpolyposis colon cancer:
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
1645 2533 14 195 290 2 109 592

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
Hereditary nonpolyposis colon cancer pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor
pathogenic 0 116 11 1 1 1 1 1 0
likely pathogenic 77 0 24 1 1 1 1 1 0
uncertain significance 20 66 14 277 17 1 1 1 1
likely benign 0 0 6 0 2 0 0 0 0
benign 0 0 1 1 0 0 0 0 0

Condition to condition summary #

Total conditions: 333
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 2455 0 70 248 0 60 377
Lynch syndrome 0 492 1 93 25 0 26 144
not provided 0 1302 13 74 13 0 20 117
not specified 0 376 0 5 63 0 15 82
Lynch syndrome I 0 163 0 13 11 0 7 31
Hereditary nonpolyposis colorectal cancer type 5 0 176 0 12 9 0 0 21
Hereditary nonpolyposis colorectal cancer type 4 0 94 0 12 4 0 3 17
Lynch syndrome II 0 98 0 9 0 0 5 14
Familial cancer of breast 0 0 0 1 0 1 1 2
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 0 2 2
Turcot syndrome 0 10 0 2 0 0 0 2
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 0 25 0 2 0 0 0 2
11q partial monosomy syndrome 0 0 0 1 0 0 1 1
16p13.2-p13.13 microduplication 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 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
Arthrogryphosis 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
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
Birt-Hogg-Dubé Syndrome 0 0 0 1 0 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-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Breast-ovarian cancer, familial 2 0 0 0 1 0 0 1 1
Breast-ovarian cancer, familial 3 0 0 0 1 0 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 1 0 0 1 1
Capillary malformation-arteriovenous malformation 1 0 0 0 1 0 0 1 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 1 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 10q22.3-q23.2 deletion syndrome 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
Ciliary dyskinesia, primary, 7 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, non-polyposis 0 6 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 1 1
Common variable immunodeficiency 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
Deafness-infertility syndrome 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
Ductal breast carcinoma 0 0 0 0 0 0 1 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
Ebstein anomaly of the tricuspid valve; Growth hormone deficiency; Intellectual disability, mild 0 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 0 0 1 1
Encephalopathy 0 0 0 0 0 0 1 1
Epilepsy 0 0 0 1 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 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 0 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
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 4769 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
Inherited Immunodeficiency Diseases 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
Limb-girdle muscular dystrophy, type 2B 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
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
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 epiphyseal dysplasia 5 0 0 0 1 0 0 1 1
Multiple exostoses type 2 0 0 0 1 0 0 1 1
Muscle dystrophy 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
Neoplasm of the breast 0 0 0 1 0 0 1 1
Neoplasm of the rectum 0 0 0 0 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
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
Pituitary carcinoma 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 1 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 1 0 0 1 1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 0 0 0 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
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, X-linked 0 0 0 0 0 1 0 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
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4 0 27 0 0 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
Wieacker Wolff syndrome 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: 592
Download table as spreadsheet
HGVS dbSNP
NM_000179.2(MSH6):c.1019T>C (p.Phe340Ser) rs61753793
NM_000179.2(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.2(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.2(MSH6):c.1081C>T (p.Arg361Cys) rs587782651
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1144C>T (p.His382Tyr) rs587779207
NM_000179.2(MSH6):c.115G>A (p.Gly39Arg) rs751838296
NM_000179.2(MSH6):c.1168G>A (p.Asp390Asn) rs147737737
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.2(MSH6):c.1316A>G (p.Asp439Gly) rs786202363
NM_000179.2(MSH6):c.131C>T (p.Pro44Leu) rs863224615
NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.2(MSH6):c.1364A>C (p.Asn455Thr) rs200938360
NM_000179.2(MSH6):c.1390A>T (p.Ile464Phe) rs201892477
NM_000179.2(MSH6):c.1403G>A (p.Arg468His) rs41295268
NM_000179.2(MSH6):c.1474A>G (p.Met492Val) rs61754783
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1487G>A (p.Cys496Tyr) rs764593111
NM_000179.2(MSH6):c.1565A>G (p.Gln522Arg) rs63751009
NM_000179.2(MSH6):c.1618C>A (p.Leu540Ile) rs201996928
NM_000179.2(MSH6):c.161G>C (p.Gly54Ala) rs63751098
NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.1740G>T (p.Ser580=) rs762089407
NM_000179.2(MSH6):c.1746T>G (p.Phe582Leu) rs201518545
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.1794A>G (p.Lys598=) rs786201210
NM_000179.2(MSH6):c.1822A>G (p.Ile608Val) rs201613780
NM_000179.2(MSH6):c.182C>T (p.Ala61Val) rs572336612
NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.2(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.2(MSH6):c.184C>A (p.Arg62Ser) rs876659508
NM_000179.2(MSH6):c.1870G>A (p.Gly624Ser) rs868760377
NM_000179.2(MSH6):c.187T>C (p.Ser63Pro) rs763702846
NM_000179.2(MSH6):c.1904G>A (p.Arg635Lys) rs1558663439
NM_000179.2(MSH6):c.1937A>G (p.Lys646Arg) rs201096652
NM_000179.2(MSH6):c.194C>T (p.Ser65Leu) rs41294984
NM_000179.2(MSH6):c.2027A>G (p.Lys676Arg) rs143643688
NM_000179.2(MSH6):c.2030G>C (p.Ser677Thr) rs587779224
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2141C>G (p.Ser714Cys) rs730881796
NM_000179.2(MSH6):c.2147C>T (p.Thr716Ile) rs587782805
NM_000179.2(MSH6):c.2171C>G (p.Ala724Gly) rs587779922
NM_000179.2(MSH6):c.2173A>G (p.Ile725Val) rs148898662
NM_000179.2(MSH6):c.2175C>G (p.Ile725Met) rs63750304
NM_000179.2(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.2(MSH6):c.2249C>A (p.Thr750Lys) rs730881817
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.234A>G (p.Arg78=) rs1553408414
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.2412A>G (p.Lys804=) rs201460265
NM_000179.2(MSH6):c.2413A>G (p.Ile805Val) rs928923556
NM_000179.2(MSH6):c.241G>A (p.Ala81Thr) rs587779239
NM_000179.2(MSH6):c.242C>T (p.Ala81Val) rs587779924
NM_000179.2(MSH6):c.2479A>G (p.Asn827Asp) rs878853716
NM_000179.2(MSH6):c.251C>T (p.Ala84Val) rs878853717
NM_000179.2(MSH6):c.2520C>T (p.Ser840=) rs781241667
NM_000179.2(MSH6):c.2559G>C (p.Lys853Asn) rs765873566
NM_000179.2(MSH6):c.257C>T (p.Thr86Ile) rs768444916
NM_000179.2(MSH6):c.260+2_260+3delinsAG rs1064794075
NM_000179.2(MSH6):c.260+4_260+5delinsTT rs1064795936
NM_000179.2(MSH6):c.2604G>A (p.Met868Ile) rs749508276
NM_000179.2(MSH6):c.261-1G>C rs863225402
NM_000179.2(MSH6):c.2765G>A (p.Arg922Gln) rs752839086
NM_000179.2(MSH6):c.2780T>C (p.Ile927Thr) rs587779926
NM_000179.2(MSH6):c.2827G>T (p.Asp943Tyr) rs143520357
NM_000179.2(MSH6):c.2857G>A (p.Glu953Lys) rs753034685
NM_000179.2(MSH6):c.2926C>T (p.Arg976Cys) rs587782386
NM_000179.2(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.2(MSH6):c.2979A>G (p.Glu993=) rs370462886
NM_000179.2(MSH6):c.3015A>G (p.Arg1005=) rs990650403
NM_000179.2(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3172+1G>T rs587779255
NM_000179.2(MSH6):c.3173-10C>A rs587780559
NM_000179.2(MSH6):c.3173-1G>C rs397515875
NM_000179.2(MSH6):c.3173-1_3173del rs587779256
NM_000179.2(MSH6):c.3198T>C (p.Tyr1066=) rs199643502
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3227G>A (p.Arg1076His) rs779617676
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.2(MSH6):c.3284G>A (p.Arg1095His) rs63750253
NM_000179.2(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368
NM_000179.2(MSH6):c.3364C>G (p.Gln1122Glu) rs1060502892
NM_000179.2(MSH6):c.3438+6T>C rs370170322
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.2(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.2(MSH6):c.3537C>G (p.Ala1179=) rs200120044
NM_000179.2(MSH6):c.3557-2del rs587779271
NM_000179.2(MSH6):c.3557-4T>A rs1553332598
NM_000179.2(MSH6):c.359T>C (p.Ile120Thr) rs775971872
NM_000179.2(MSH6):c.3601C>G (p.Leu1201Val) rs182024561
NM_000179.2(MSH6):c.3605T>C (p.Met1202Thr) rs587779273
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.2(MSH6):c.363C>T (p.Arg121=) rs587779276
NM_000179.2(MSH6):c.364G>A (p.Glu122Lys) rs143036974
NM_000179.2(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.2(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.2(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388
NM_000179.2(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290
NM_000179.2(MSH6):c.3798_3801+9del rs1553333168
NM_000179.2(MSH6):c.3801+4T>C rs758830540
NM_000179.2(MSH6):c.3801+5G>A rs201080919
NM_000179.2(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.2(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.2(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000179.2(MSH6):c.38A>G (p.Lys13Arg) rs41294988
NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.2(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.2(MSH6):c.3988C>T (p.Leu1330=) rs768944975
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.2(MSH6):c.3del (p.Met1fs) rs1553408068
NM_000179.2(MSH6):c.4001+2T>C rs267608131
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.2(MSH6):c.4004_4007dup (p.Cys1337fs) rs876658497
NM_000179.2(MSH6):c.4028C>G (p.Ser1343Ter) rs863225420
NM_000179.2(MSH6):c.476C>T (p.Ala159Val) rs587778528
NM_000179.2(MSH6):c.503C>G (p.Ala168Gly) rs774162322
NM_000179.2(MSH6):c.532C>T (p.Arg178Cys) rs730881813
NM_000179.2(MSH6):c.628-2A>G rs1114167725
NM_000179.2(MSH6):c.628-8C>G rs767991179
NM_000179.2(MSH6):c.631G>A (p.Gly211Ser) rs786204153
NM_000179.2(MSH6):c.63C>G (p.Asn21Lys) rs876660097
NM_000179.2(MSH6):c.643G>A (p.Val215Ile) rs145959653
NM_000179.2(MSH6):c.668A>G (p.Asn223Ser) rs587779316
NM_000179.2(MSH6):c.869T>C (p.Leu290Pro) rs751309721
NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000179.2(MSH6):c.905G>A (p.Arg302Lys) rs587781510
NM_000179.2(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000179.2(MSH6):c.93C>T (p.Gly31=) rs370817805
NM_000179.2(MSH6):c.942C>G (p.Ser314Arg) rs150440246
NM_000179.2(MSH6):c.956C>T (p.Thr319Met) rs188252826
NM_000179.2(MSH6):c.975A>G (p.Gln325=) rs193922345
NM_000179.2(MSH6):c.998C>T (p.Thr333Ile) rs587781983
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1024_1038+1del rs1553648201
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1039-11_1039-8dup rs57509953
NM_000249.3(MLH1):c.1039-4A>G rs368618417
NM_000249.3(MLH1):c.1040C>A (p.Thr347Asn) rs201541505
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.3(MLH1):c.1103C>T (p.Ser368Leu) rs201673334
NM_000249.3(MLH1):c.1136A>C (p.Tyr379Ser) rs143009528
NM_000249.3(MLH1):c.1136A>G (p.Tyr379Cys) rs143009528
NM_000249.3(MLH1):c.116+4C>T rs1057523910
NM_000249.3(MLH1):c.116+5G>A rs267607710
NM_000249.3(MLH1):c.116+6G>A rs1057522127
NM_000249.3(MLH1):c.117T>G (p.Cys39Trp) rs1305605404
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.3(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.3(MLH1):c.1327A>C (p.Lys443Gln) rs34213726
NM_000249.3(MLH1):c.1359G>C (p.Lys453Asn) rs756099600
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1409+1G>T rs267607825
NM_000249.3(MLH1):c.1421G>A (p.Arg474Gln) rs63751083
NM_000249.3(MLH1):c.1460G>A (p.Arg487Gln) rs587778917
NM_000249.3(MLH1):c.1474G>A (p.Ala492Thr) rs63751145
NM_000249.3(MLH1):c.1512T>C (p.Thr504=) rs749683911
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.1558+4C>T rs531873434
NM_000249.3(MLH1):c.1558+6T>C rs730881749
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1559-1G>T rs267607837
NM_000249.3(MLH1):c.1559-2A>C rs267607836
NM_000249.3(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.3(MLH1):c.1569G>T (p.Glu523Asp) rs63751680
NM_000249.3(MLH1):c.1577A>G (p.His526Arg) rs1304802474
NM_000249.3(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000249.3(MLH1):c.1652A>G (p.Asn551Ser) rs63750271
NM_000249.3(MLH1):c.1667+4A>G rs983986337
NM_000249.3(MLH1):c.1667G>C (p.Ser556Thr) rs63751596
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.3(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.3(MLH1):c.1818A>T (p.Gly606=) rs1057522427
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.1896+1G>A rs267607867
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.3(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.3(MLH1):c.1989+1G>A rs267607879
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2034A>G (p.Lys678=) rs894876691
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.2074T>C (p.Ser692Pro) rs587779957
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2103+6G>T rs1057521607
NM_000249.3(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.3(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.3(MLH1):c.2131T>C (p.Ser711Pro) rs587781342
NM_000249.3(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.3(MLH1):c.2210A>T (p.Asp737Val) rs267607885
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2253del (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2259del (p.Phe753fs) rs1060500698
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.3(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.306+3A>G rs267607731
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.344T>A (p.Ile115Asn) rs764120517
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.3(MLH1):c.381-1G>A rs267607744
NM_000249.3(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.404dup (p.Lys136fs) rs1553642079
NM_000249.3(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.453G>A (p.Thr151=) rs369521379
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.492A>C (p.Lys164Asn) rs765014361
NM_000249.3(MLH1):c.516A>G (p.Glu172=) rs748128054
NM_000249.3(MLH1):c.52C>T (p.Arg18Cys) rs367654552
NM_000249.3(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.588+2T>A rs587779024
NM_000249.3(MLH1):c.595G>C (p.Glu199Gln) rs63749887
NM_000249.3(MLH1):c.626A>G (p.Asn209Ser) rs150478207
NM_000249.3(MLH1):c.62C>A (p.Ala21Glu) rs63750706
NM_000249.3(MLH1):c.63G>A (p.Ala21=) rs1553637274
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.677+9A>G rs1060500696
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.678-3T>A rs267607785
NM_000249.3(MLH1):c.678-9_678-8del rs1559534072
NM_000249.3(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.3(MLH1):c.778C>T (p.Leu260Phe) rs63750642
NM_000249.3(MLH1):c.791-1G>A rs267607795
NM_000249.3(MLH1):c.791-2A>G rs267607794
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.794G>A (p.Arg265His) rs63751448
NM_000249.3(MLH1):c.7T>C (p.Phe3Leu) rs878853790
NM_000249.3(MLH1):c.808A>G (p.Thr270Ala) rs371302926
NM_000249.3(MLH1):c.80G>A (p.Arg27Gln) rs138705565
NM_000249.3(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000249.3(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000249.3(MLH1):c.885-1G>A rs1553647894
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.918T>A (p.Asn306Lys) rs587779054
NM_000249.3(MLH1):c.925C>T (p.Pro309Ser) rs267607808
NM_000249.3(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.3(MLH1):c.94A>G (p.Ile32Val) rs2020872
NM_000249.3(MLH1):c.954C>A (p.His318Gln) rs146777069
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000249.3(MLH1):c.9C>G (p.Phe3Leu) rs779759678
NM_000249.4(MLH1):c.2038T>G rs63750809
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.2(MSH2):c.1077-2A>G rs267607943
NM_000251.2(MSH2):c.1077-3C>T rs758182607
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.2(MSH2):c.1087G>T (p.Val363Leu) rs377345366
NM_000251.2(MSH2):c.1099G>A (p.Val367Ile) rs80285180
NM_000251.2(MSH2):c.10C>T (p.Gln4Ter) rs878853797
NM_000251.2(MSH2):c.115C>A (p.Arg39=) rs786202334
NM_000251.2(MSH2):c.118G>A (p.Gly40Ser) rs63751260
NM_000251.2(MSH2):c.1191A>T (p.Gln397His) rs768694189
NM_000251.2(MSH2):c.1227_1238del (p.Gly410_Gln413del)
NM_000251.2(MSH2):c.1270C>T (p.His424Tyr) rs587782278
NM_000251.2(MSH2):c.1271A>G (p.His424Arg) rs200429136
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1276+1G>T rs267607950
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.128A>G (p.Tyr43Cys) rs17217723
NM_000251.2(MSH2):c.1316_1318delCTC rs587779082
NM_000251.2(MSH2):c.132G>A (p.Thr44=) rs766856128
NM_000251.2(MSH2):c.1360A>G (p.Ile454Val) rs587781627
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1387-3C>T rs1553365696
NM_000251.2(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.2(MSH2):c.1418C>T (p.Ser473Leu) rs63751403
NM_000251.2(MSH2):c.141C>T (p.Gly47=)
NM_000251.2(MSH2):c.1461C>G (p.Asp487Glu) rs35107951
NM_000251.2(MSH2):c.1462T>G (p.Leu488Val) rs587781314
NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.2(MSH2):c.1489A>G (p.Ile497Val) rs755501968
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.164G>A (p.Arg55Gln) rs748196422
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.2(MSH2):c.1662-2A>G rs267607971
NM_000251.2(MSH2):c.1662C>T (p.Ser554=) rs587778525
NM_000251.2(MSH2):c.1717G>A (p.Ala573Thr) rs200766962
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1759+1G>T rs587779108
NM_000251.2(MSH2):c.1759G>C (p.Gly587Arg) rs63751140
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1760-3C>T rs786202843
NM_000251.2(MSH2):c.1761C>G (p.Gly587=) rs920449426
NM_000251.2(MSH2):c.1774A>G (p.Met592Val) rs371614039
NM_000251.2(MSH2):c.1784T>G (p.Leu595Arg) rs786201590
NM_000251.2(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.2(MSH2):c.1837A>C (p.Asn613His) rs200147804
NM_000251.2(MSH2):c.1854A>G (p.Pro618=) rs786203744
NM_000251.2(MSH2):c.1862G>T (p.Arg621Leu) rs759263820
NM_000251.2(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.2(MSH2):c.1884A>T (p.Gly628=) rs786202663
NM_000251.2(MSH2):c.1898T>C (p.Ile633Thr) rs864622093
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.1935A>G (p.Gln645=) rs587780684
NM_000251.2(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.2(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg) rs267607995
NM_000251.2(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.212-3A>T rs879255341
NM_000251.2(MSH2):c.213A>G (p.Gly71=) rs878853808
NM_000251.2(MSH2):c.2164G>A (p.Val722Ile) rs587781996
NM_000251.2(MSH2):c.2210+1G>A rs267608002
NM_000251.2(MSH2):c.2211-10T>A rs267608006
NM_000251.2(MSH2):c.2211-2A>G rs267608001
NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.2(MSH2):c.2308A>G (p.Ile770Val) rs63750684
NM_000251.2(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2354A>C (p.His785Pro) rs200252727
NM_000251.2(MSH2):c.2377C>G (p.Gln793Glu) rs730881769
NM_000251.2(MSH2):c.2437A>G (p.Met813Val) rs63749841
NM_000251.2(MSH2):c.2439G>A (p.Met813Ile) rs587781678
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2458+4T>C rs1038735071
NM_000251.2(MSH2):c.2459-6_2459-2del rs1114167841
NM_000251.2(MSH2):c.2472A>G (p.Gln824=) rs1553370311
NM_000251.2(MSH2):c.2517T>A (p.His839Gln) rs267608016
NM_000251.2(MSH2):c.2528G>A (p.Cys843Tyr) rs747700106
NM_000251.2(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.2(MSH2):c.2579C>T (p.Ser860Leu) rs63750849
NM_000251.2(MSH2):c.2586A>G (p.Gly862=) rs1060502024
NM_000251.2(MSH2):c.2588dup (p.Tyr863Ter) rs1553370435
NM_000251.2(MSH2):c.2615A>G (p.Lys872Arg) rs587780686
NM_000251.2(MSH2):c.2621A>G (p.Tyr874Cys) rs775390721
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634+7C>G rs905179122
NM_000251.2(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.2(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.2(MSH2):c.2635-1G>T rs267608020
NM_000251.2(MSH2):c.2635-2A>C rs1114167818
NM_000251.2(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.2(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.2(MSH2):c.2732T>G (p.Leu911Arg) rs41295182
NM_000251.2(MSH2):c.274C>G (p.Leu92Val) rs587779154
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.304G>A (p.Val102Ile) rs193922373
NM_000251.2(MSH2):c.317G>C (p.Arg106Thr) rs41295286
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.409G>C (p.Gly137Arg) rs587781795
NM_000251.2(MSH2):c.460G>A (p.Ala154Thr) rs759712763
NM_000251.2(MSH2):c.471C>T (p.Gly157=) rs61756463
NM_000251.2(MSH2):c.481G>A (p.Val161Ile) rs149511545
NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.2(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.2(MSH2):c.512G>A (p.Arg171Lys) rs63750902
NM_000251.2(MSH2):c.560T>G (p.Leu187Arg) rs63751444
NM_000251.2(MSH2):c.571_573delCTC rs587779165
NM_000251.2(MSH2):c.599T>A (p.Val200Asp) rs587779167
NM_000251.2(MSH2):c.606C>A (p.Pro202=) rs63750600
NM_000251.2(MSH2):c.624A>T (p.Gly208=) rs786202651
NM_000251.2(MSH2):c.645+2T>G rs876658996
NM_000251.2(MSH2):c.645+3A>G rs587779168
NM_000251.2(MSH2):c.646-3T>C rs267607930
NM_000251.2(MSH2):c.646-4A>G rs587779974
NM_000251.2(MSH2):c.646A>G (p.Ile216Val) rs63749936
NM_000251.2(MSH2):c.763A>G (p.Ser255Gly) rs761529282
NM_000251.2(MSH2):c.766G>A (p.Ala256Thr) rs377403073
NM_000251.2(MSH2):c.76A>C (p.Met26Leu) rs876660371
NM_000251.2(MSH2):c.792+1delG rs1064794155
NM_000251.2(MSH2):c.792+5A>G rs267607935
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.816G>A (p.Ala272=) rs368912987
NM_000251.2(MSH2):c.817G>A (p.Val273Ile) rs530814648
NM_000251.2(MSH2):c.885C>G (p.Asp295Glu) rs201334592
NM_000251.2(MSH2):c.896A>G (p.Tyr299Cys) rs1558464315
NM_000251.2(MSH2):c.929T>G (p.Leu310Arg) rs63750640
NM_000251.2(MSH2):c.942+1G>T rs587779193
NM_000251.2(MSH2):c.942+3A>G rs193922376
NM_000251.2(MSH2):c.943-1G>A rs12476364
NM_000251.2(MSH2):c.943-1G>C rs12476364
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.2(MSH2):c.943-4C>T rs1432053166
NM_000251.2(MSH2):c.991A>G (p.Asn331Asp) rs267607938
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg) rs864622553
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser) rs200726484
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser) rs569947936
NM_000535.7(PMS2):c.1357A>G (p.Met453Val) rs587780722
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe) rs748698776
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly) rs786203510
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1455G>A (p.Thr485=) rs752665758
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser) rs749826312
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val) rs138222146
NM_000535.7(PMS2):c.1647G>A (p.Val549=) rs1554297410
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr) rs757989905
NM_000535.7(PMS2):c.1687C>A (p.Arg563=) rs587778618
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser) rs758018736
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg) rs764252217
NM_000535.7(PMS2):c.1776A>G (p.Gln592=)
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) rs786204109
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2007-2A>C rs587782336
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2175A>G (p.Ala725=) rs769116749
NM_000535.7(PMS2):c.2175A>T (p.Ala725=) rs769116749
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.226_228GAA[2] (p.Glu78del) rs386833411
NM_000535.7(PMS2):c.23+1G>T rs587782074
NM_000535.7(PMS2):c.23+6C>A rs779104357
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.2399C>T (p.Pro800Leu) rs200629542
NM_000535.7(PMS2):c.24-4C>G rs2345056
NM_000535.7(PMS2):c.2404C>A (p.Arg802=) rs63751466
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2457G>T (p.Gly819=) rs786203315
NM_000535.7(PMS2):c.24T>C (p.Ser8=) rs1554306620
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.354-3C>T rs587782632
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315
NM_000535.7(PMS2):c.537+6G>A rs1358613918
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.591C>T (p.Gly197=) rs748518694
NM_000535.7(PMS2):c.592A>G (p.Ile198Val)
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser) rs878854055
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000535.7(PMS2):c.706-3C>T rs1229860023
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580
NM_000535.7(PMS2):c.780C>A (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696
NM_000535.7(PMS2):c.988+4A>G rs763959308
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001167617.2(MLH1):c.-46A>G rs587778998
NM_001167617.2(MLH1):c.-7del rs1064795441
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001167617.2(MLH1):c.1958_1959del (p.Lys653fs) rs267607901
NM_001167618.2(MLH1):c.-432_-431delinsTT rs1553640314
NM_001258271.1(MLH1):c.1896+875_1896+882dup rs1064794331
NM_001258281.1(MSH2):c.763_808del (p.Thr255fs) rs1553353114
NM_001281492.1(MSH6):c.1216_1219AGTA[1] (p.Lys407fs) rs863224829
NM_001281492.1(MSH6):c.1225_1227CTT[1] (p.Leu410del) rs1064793600
NM_001281492.1(MSH6):c.1244_1245del (p.Lys415fs) rs267608064
NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) rs587779241
NM_001281492.1(MSH6):c.2647_2649AAG[1] (p.Lys884del) rs267608073
NM_001281492.1(MSH6):c.2647_2651del (p.Lys883fs) rs587782712
NM_001281492.1(MSH6):c.2718_2719del (p.Phe907fs) rs1553414519
NM_001281492.1(MSH6):c.2871dup (p.Phe958fs) rs267608078
NM_001281492.1(MSH6):c.3092_3094CTG[1] (p.Ala1032del) rs63751427
NM_001281492.1(MSH6):c.3324_3325TA[1] (p.Ile1109fs) rs1064794384
NM_001281492.1(MSH6):c.3339_3341ATT[1] (p.Leu1114del) rs876658650
NM_001281492.1(MSH6):c.3407_3408AT[1] (p.Met1137fs) rs267608114
NM_001281492.1(MSH6):c.3450_3456del (p.Glu1151fs) rs63751319
NM_001281492.1(MSH6):c.3488_3491dup (p.Pro1165fs) rs1553333500
NM_001281492.1(MSH6):c.3590_3593dup (p.Leu1200fs) rs1553333738
NM_001281492.1(MSH6):c.3606_3610dup (p.Arg1204fs) rs587779301
NM_001281492.1(MSH6):c.3693_*3GACT[3] (p.Ter1231=) rs765313977
NM_001281492.1(MSH6):c.740_744AGAGA[1] (p.Arg248_Arg249insTer) rs267608077
NM_001281492.1(MSH6):c.778_780delinsAA (p.Asp260fs) rs863225398
NM_001281492.1(MSH6):c.962del (p.Phe321fs) rs869312769
NM_001281493.1(MSH6):c.-166dup rs267608041
NM_001281493.1(MSH6):c.-41_-40delinsAA rs267608079
NM_001354621.1(MLH1):c.-13dup rs63750677
NM_001354621.1(MLH1):c.-53dup rs587781554
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.