ClinVar Miner

Variants with conflicting interpretations studied for Squamous cell carcinoma of the head and neck

Coded as:
Minimum review status of the submission for Squamous cell carcinoma of the head and neck: Y axis collection method of the submission for Squamous cell carcinoma of the head and neck:
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
19 169 0 114 13 6 81 192

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
Squamous cell carcinoma of the head and neck pathogenic likely pathogenic uncertain significance likely benign benign association drug response other
likely pathogenic 106 0 78 2 1 1 4 1
uncertain significance 0 1 0 7 2 0 0 0
likely benign 0 1 2 0 4 0 0 0
benign 0 0 4 4 0 0 0 0
drug response 0 1 0 0 0 0 0 0

Condition to condition summary #

Total conditions: 339
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
Li-Fraumeni syndrome 0 25 0 40 9 0 54 100
Hereditary cancer-predisposing syndrome 0 51 0 31 9 0 23 60
not provided 0 31 0 39 5 0 7 49
Li-Fraumeni syndrome 1 0 11 0 11 2 0 5 17
Neoplasm of the large intestine 0 228 0 17 0 0 0 17
not specified 0 9 0 8 3 0 7 17
Neoplasm of the breast 0 237 0 14 0 0 0 14
Non-small cell lung cancer 0 4 0 10 0 1 0 11
Ovarian Neoplasms 0 71 0 10 0 0 0 10
Breast adenocarcinoma 0 0 0 7 0 0 0 7
Carcinoma of colon 0 1 0 6 0 0 0 6
Neoplasm of ovary 0 0 0 6 0 0 0 6
Costello syndrome 0 1 0 4 0 0 0 4
Cutaneous melanoma 0 7 0 4 0 0 0 4
Epidermal nevus 0 0 0 4 0 0 0 4
Hereditary cutaneous melanoma 0 0 0 1 0 0 3 4
Keratosis, seborrheic 0 0 0 4 0 0 0 4
PIK3CA related overgrowth spectrum 0 1 0 4 0 0 0 4
PTEN hamartoma tumor syndrome 0 0 0 3 0 0 1 4
Acute myeloid leukemia 0 66 0 3 0 0 0 3
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 0 0 3 0 0 0 3
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 0 3 0 0 0 3
Cowden syndrome 0 0 0 3 0 0 0 3
Juvenile polyposis syndrome 0 1 0 3 0 0 1 3
Li-Fraumeni-like syndrome 0 0 0 3 0 0 0 3
Lung cancer 0 1 0 3 0 0 0 3
Malignant tumor of prostate 0 1 0 0 0 0 3 3
McCune-Albright syndrome 0 0 0 3 0 0 0 3
Megalencephaly cutis marmorata telangiectatica congenita 0 0 0 3 0 0 0 3
Nevus sebaceous 0 0 0 3 0 0 0 3
Ovarian epithelial cancer 0 0 0 3 0 0 0 3
Rasopathy 0 0 0 3 0 0 0 3
Achondroplasia; Camptodactyly, tall stature, and hearing loss syndrome; Carcinoma of cervix; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Bladder cancer, somatic; Hypochondroplasia; Epidermal nevus; Severe achondroplasia with developmental delay and acanthosis nigricans; Malignant tumor of testis; Carcinoma of colon 0 0 0 2 0 0 0 2
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 0 0 0 2 0 0 0 2
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 0 0 0 2 0 0 0 2
Cardio-facio-cutaneous syndrome 0 0 0 2 0 0 0 2
Cowden syndrome 1 0 0 0 2 0 0 0 2
Cowden syndrome 5 0 0 0 2 0 0 0 2
Cushing's syndrome 0 0 0 2 0 0 0 2
Hepatoblastoma 0 0 0 2 0 0 0 2
Hepatocellular carcinoma 0 178 0 2 0 0 0 2
Inborn genetic diseases 0 1 0 2 0 0 0 2
JP and JP/HHT 0 0 0 2 0 0 0 2
Neoplasm of stomach 0 0 0 2 0 0 0 2
Neoplasm of the thyroid gland 0 11 0 2 0 0 0 2
PARP Inhibitor response 0 0 0 0 0 2 0 2
PITUITARY ADENOMA 3, MULTIPLE TYPES 0 0 0 2 0 0 0 2
Sex cord-stromal tumor 0 0 0 2 0 0 0 2
Thanatophoric dysplasia type 1 0 0 0 2 0 0 0 2
16q24.3 microdeletion 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 0 0 0 1 1
Abnormality of esophagus morphology 0 0 0 1 0 0 0 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 0 0 1 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
Anaplastic thyroid carcinoma 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
Astrocytoma, anaplastic 0 0 0 1 0 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 0 0 0 1 0 0 0 1
Astrocytoma, low-grade, somatic 0 0 0 1 0 0 0 1
Atypical teratoid/rhabdoid tumor 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 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
Bladder cancer, somatic 0 0 0 1 0 0 0 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
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-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
Carcinoma of cervix 0 0 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 4 0 0 0 1 0 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 0 0 1 1
Cerebral arteriovenous malformation 0 0 0 1 0 0 0 1
Cerebral cavernous malformation 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease 0 0 0 0 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; 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
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
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
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
Cowden syndrome 6 0 0 0 0 0 0 1 1
Craniosynostosis 0 0 0 1 0 0 0 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 0 0 0 1 0 0 0 1
Cystic fibrosis 0 0 0 1 0 0 0 1
D-2-hydroxyglutaric aciduria 2 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
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 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
Endometrial carcinoma 0 0 0 1 0 0 0 1
Epidermal nevus syndrome 0 0 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
Epilepsy 0 0 0 0 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 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
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 adenomatous polyposis 1 0 0 0 1 0 0 0 1
Familial cancer of breast 0 1 0 1 0 0 1 1
Familial cancer of breast; Megalencephaly cutis marmorata telangiectatica congenita; Lung cancer; Congenital macrodactylia; Keratosis, seborrheic; Epidermal nevus; Neoplasm of ovary; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma 0 0 0 1 0 0 0 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
Fanconi anemia 0 0 0 1 0 0 1 1
Fumarase deficiency 0 0 0 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Gastrointestinal stroma tumor 0 0 0 1 0 0 0 1
Germ cell tumor, nonseminomatous 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; Seizures; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 0 0 1 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
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 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
Histone Methylation Therapy response 0 0 0 0 0 1 0 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
Hypertelorism; Megalencephaly; Diaphragmatic eventration; Abnormality of the hairline; Intestinal duplication 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
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 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 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
JP, JP/HHT, and HHT 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/hereditary hemorrhagic telangiectasia syndrome 0 0 0 1 0 0 0 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
Laminin alpha 2-related dystrophy 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
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 0 263 0 1 0 0 0 1
MACRODACTYLY, SOMATIC 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
Macrodactyly of toe; Stroke 0 0 0 1 0 0 0 1
Macrothrombocytopenia 0 0 0 1 0 0 0 1
Malignant Colorectal Neoplasm 0 0 0 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
Medulloblastoma 0 45 0 0 0 1 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 26 0 0 0 0 0 0 1 1
Mental retardation, autosomal recessive 7 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
Multiple myeloma 0 89 0 1 0 0 0 1
Myhre syndrome; Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 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, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 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
NEVUS SPILUS, SOMATIC 0 0 0 1 0 0 0 1
Nasopharyngeal carcinoma 0 0 0 1 0 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
Nevus, woolly hair 0 0 0 1 0 0 0 1
Non-Hodgkin lymphoma 0 28 0 1 0 0 0 1
Noonan syndrome 0 0 0 1 0 0 0 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
Osteosarcoma 0 1 0 1 0 0 0 1
Ovarian cancer; breast cancer 0 0 0 1 0 0 0 1
Papillary thyroid carcinoma 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
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 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
Pilomatrixoma 0 1 0 1 0 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
Proteus syndrome 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
Renal cyst; Pancreatic cysts 0 0 0 1 0 0 0 1
RhD negative 0 0 0 1 0 0 0 1
Rhabdomyosarcoma 0 0 0 0 1 0 0 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 1 0 0 0 1
Rosette-forming glioneuronal tumor 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
SPITZ NEVUS, SOMATIC 0 0 0 1 0 0 0 1
Sarcoma 0 1 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; 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
Skeletal dysplasia 0 0 0 1 0 0 0 1
Skeletal dysplasia with acanthosis nigricans 0 0 0 1 0 0 0 1
Skeletal dysplasia; Short stature; Growth delay; Short ribs; Narrow chest; Small for gestational age; Bell-shaped thorax; Femoral bowing; Bowed humerus; Disproportionate short-limb short stature; Lethal short-limbed short stature; Lower limb undergrowth; Upper limb undergrowth 0 0 0 1 0 0 0 1
Spastic paraplegia 0 0 0 0 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, 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
T-cell acute lymphoblastic leukemia 0 0 0 1 0 0 0 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 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, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1
Vici syndrome 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: 192
Download table as spreadsheet
HGVS dbSNP
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001126112.2(TP53):c.1014C>T (p.Phe338=) rs150293825
NM_001126112.2(TP53):c.1096T>G (p.Ser366Ala) rs17881470
NM_001126112.2(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_001126112.2(TP53):c.285T>G (p.Ser95=) rs876658696
NM_001126112.2(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_001126112.2(TP53):c.354A>T (p.Thr118=) rs751978853
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_001126112.2(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_001126112.2(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_001126112.2(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_001126112.2(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_001126112.2(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_001126112.2(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_001126112.2(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_001126112.2(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_001126112.2(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_001126112.2(TP53):c.467G>A (p.Arg156His) rs371524413
NM_001126112.2(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_001126112.2(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_001126112.2(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_001126112.2(TP53):c.517G>A (p.Val173Met) rs876660754
NM_001126112.2(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_001126112.2(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_001126112.2(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_001126112.2(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_001126112.2(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_001126112.2(TP53):c.535C>A (p.His179Asn) rs587780070
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_001126112.2(TP53):c.537T>G (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.542G>A (p.Arg181His) rs397514495
NM_001126112.2(TP53):c.578A>C (p.His193Pro) rs786201838
NM_001126112.2(TP53):c.578A>T (p.His193Leu) rs786201838
NM_001126112.2(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_001126112.2(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_001126112.2(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_001126112.2(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_001126112.2(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_001126112.2(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_001126112.2(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_001126112.2(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_001126112.2(TP53):c.642T>G (p.His214Gln) rs587781386
NM_001126112.2(TP53):c.646G>A (p.Val216Met) rs730882025
NM_001126112.2(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_001126112.2(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_001126112.2(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_001126112.2(TP53):c.66A>G (p.Leu22=) rs748527030
NM_001126112.2(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_001126112.2(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_001126112.2(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_001126112.2(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_001126112.2(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_001126112.2(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_001126112.2(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_001126112.2(TP53):c.709A>G (p.Met237Val) rs730882004
NM_001126112.2(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_001126112.2(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_001126112.2(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_001126112.2(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_001126112.2(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_001126112.2(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_001126112.2(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_001126112.2(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_001126112.2(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_001126112.2(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_001126112.2(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_001126112.2(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_001126112.2(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_001126112.2(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_001126112.2(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_001126112.2(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_001126112.2(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_001126112.2(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_001126112.2(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_001126112.2(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_001126112.2(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001126112.2(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_001126112.2(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_001126112.2(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_001126112.2(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_001126112.2(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_001126112.2(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_001126112.2(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_001126112.2(TP53):c.814G>A (p.Val272Met) rs121912657
NM_001126112.2(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_001126112.2(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_001126112.2(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_001126112.2(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001126112.2(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_001126112.2(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001126112.2(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_001126112.2(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_001126112.2(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_001126112.2(TP53):c.833C>A (p.Pro278His) rs876659802
NM_001126112.2(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_001126112.2(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_001126112.2(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_001126112.2(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_001126112.2(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_001126112.2(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_001126112.2(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_001126112.2(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_001126112.2(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_001126112.2(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001126112.2(TP53):c.869G>A (p.Arg290His) rs55819519
NM_001126112.2(TP53):c.885T>C (p.Pro295=) rs200073907
NM_001126112.2(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_001126112.2(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_001126112.2(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp) rs267606870
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001289910.1(IDH2):c.263G>T (p.Arg88Leu) rs121913502
NM_001304718.2(PTEN):c.-363C>G rs121909224
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) rs28929495
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys) rs1057519922
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
Single allele

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