ClinVar Miner

Variants with conflicting interpretations studied for Autism spectrum disorder

Coded as:
Minimum review status of the submission for Autism spectrum disorder: Y axis collection method of the submission for Autism spectrum disorder:
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
358 40 0 10 9 6 6 27

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
Autism spectrum disorder pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 2 2 1 1 1
likely pathogenic 1 0 3 3 3 1
uncertain significance 1 1 0 3 1 1
likely benign 0 1 6 0 7 0
benign 0 0 0 1 0 0
association 1 1 4 3 1 0

Condition to condition summary #

Total conditions: 244
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
not provided 0 24 0 8 6 5 2 18
not specified 0 15 0 1 1 1 3 4
KBG syndrome 0 2 0 0 3 0 0 3
Duchenne muscular dystrophy 0 0 0 1 0 1 2 2
History of neurodevelopmental disorder 0 1 0 0 0 2 0 2
Tuberous sclerosis 2 0 9 0 1 0 1 2 2
16q24.3 microdeletion syndrome 0 0 0 1 0 1 1 1
1p13.3 deletion syndrome 0 0 0 1 0 1 1 1
1q21.1 recurrent microdeletion 0 0 0 1 0 1 1 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 1 0 1 1 1
Abnormal aortic valve physiology 0 0 0 1 0 1 1 1
Abnormal mitral valve physiology 0 0 0 1 0 1 1 1
Abnormality of esophagus morphology 0 0 0 1 0 1 1 1
Abnormality of the eye 0 0 0 1 0 1 1 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 0 1 1 1
Adams-Oliver syndrome 5 0 0 0 1 0 1 1 1
Aminoaciduria 0 0 0 1 0 1 1 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 1 0 1 1 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 0 1 1 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 0 0 0 1 1 1
Ataxia-telangiectasia-like disorder 1 0 0 0 1 0 1 1 1
Autism spectrum disorder 424 0 0 1 0 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 1 0 1 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 1 0 1 1 1
Autistic behavior; Severe global developmental delay 0 0 0 1 0 1 1 1
Autistic disorder of childhood onset 0 0 0 1 0 1 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 1 0 1 1 1
Autosomal recessive congenital ichthyosis 3 0 0 0 1 0 1 1 1
Bardet-Biedl syndrome 0 0 0 1 0 1 1 1
Becker muscular dystrophy 0 0 0 1 0 1 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 1 0 1 1 1
Beckwith-Wiedemann syndrome 0 0 0 1 0 1 1 1
Behavioral abnormality; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Postnatal microcephaly 0 0 0 0 0 1 1 1
Behavioral abnormality; Moderate global developmental delay 0 0 0 0 0 1 1 1
Bethlem myopathy 1 0 0 0 0 0 1 1 1
Biotin-thiamine-responsive basal ganglia disease 0 0 0 0 0 1 1 1
Biotinidase deficiency 0 0 0 1 0 1 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 0 1 1 1 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 1 0 1 1 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 1 0 1 1 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 1 1 1
Breast-ovarian cancer, familial 2 0 0 0 1 0 1 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 1 1 1
CHARGE association 0 0 0 1 0 1 1 1
Capillary malformation-arteriovenous malformation 0 0 0 1 0 1 1 1
Cardiovascular phenotype 0 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 1 0 1 1 1
Ceroid lipofuscinosis neuronal 1 0 0 0 1 0 1 1 1
Charcot-Marie-Tooth disease 0 0 0 1 0 1 1 1
Charcot-Marie-Tooth disease type 2K 0 0 0 0 0 1 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 1 0 1 1 1
Chorioretinal atrophy, progressive bifocal 0 0 0 1 0 1 1 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 1 0 1 1 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 1 0 1 1 1
Chromosome 17q12 duplication syndrome 0 0 0 1 0 1 1 1
Chromosome 9q deletion syndrome 0 0 0 1 0 1 1 1
Ciliary dyskinesia, primary, 28 0 0 0 1 0 1 1 1
Citrullinemia type I 0 0 0 1 0 1 1 1
Cohen syndrome 0 0 0 1 0 1 1 1
Collagen VI-related myopathy 0 0 0 0 1 1 1 1
Combined oxidative phosphorylation deficiency 14 0 0 0 0 0 1 1 1
Combined oxidative phosphorylation deficiency 31 0 0 0 1 0 1 1 1
Cone monochromatism 0 0 0 1 0 1 1 1
Cone/cone-rod dystrophy 0 0 0 1 0 1 1 1
Congenital contractural arachnodactyly 0 0 0 0 0 1 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 1 1 1
Cornelia de Lange syndrome 1 0 0 0 1 0 1 1 1
Cornelia de Lange syndrome 5 0 0 0 1 0 1 1 1
Currarino triad 0 0 0 1 0 1 1 1
Cutaneous melanoma 0 0 0 1 0 0 0 1
Cystic fibrosis 0 0 0 1 0 1 1 1
Cystinuria 0 0 0 1 0 1 1 1
Deafness, autosomal recessive 16 0 0 0 1 0 1 1 1
Deafness, autosomal recessive 1A 0 0 0 1 0 1 1 1
Dent disease 1 0 0 0 1 0 1 1 1
Developmental Split Brain Syndrome 0 0 0 1 0 1 1 1
Dihydropteridine reductase deficiency 0 0 0 1 0 1 1 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 1 1 1 1
Dilated cardiomyopathy 1G 0 0 0 1 0 1 1 1
Ductal breast carcinoma 0 0 0 0 0 1 1 1
Early infantile epileptic encephalopathy 0 0 0 1 0 1 1 1
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 0 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 0 1 1 1
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 0 0 1 0 1 1 1
Epilepsy, progressive myoclonic 3 0 0 0 0 0 1 1 1
Epileptic encephalopathy 0 0 0 1 0 1 1 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 1 1 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 1 0 1 1 1
Ethylmalonic encephalopathy 0 0 0 1 0 1 1 1
Failure to thrive in infancy; Attention deficit hyperactivity disorder 0 0 0 0 0 1 1 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 0 1 0 1 1 1
Familial adenomatous polyposis 1 0 0 0 1 0 1 1 1
Familial cancer of breast 0 0 0 1 0 1 1 1
Familial colorectal cancer 0 0 0 0 0 1 1 1
Familial hypercholesterolemia 0 0 0 1 0 1 1 1
Familial hypokalemia-hypomagnesemia 0 0 0 1 0 1 1 1
Fanconi anemia 0 0 0 1 0 1 1 1
Fanconi anemia, complementation group A 0 0 0 1 0 1 1 1
Fumarase deficiency 0 0 0 1 0 1 1 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 1 1 1
Glioma 0 0 0 1 0 1 1 1
Global developmental delay 0 0 0 1 0 1 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 1 0 1 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 1 1 1
Global developmental delay; Seizures; Behavioral abnormality; Macrocephalus; Hand tremor 0 0 0 0 1 0 0 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 1 0 1 1 1
Gorlin syndrome 0 0 0 1 0 1 1 1
Griscelli syndrome type 2 0 0 0 1 0 1 1 1
Hematologic neoplasm 0 0 0 1 0 1 1 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 1 1 1
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 1 1 1
Hereditary cancer-predisposing syndrome 0 8 0 1 0 1 1 1
Hereditary cutaneous melanoma 0 0 0 1 0 1 1 1
Hereditary nonpolyposis colon cancer 0 0 0 1 0 1 1 1
Hereditary pancreatitis 0 0 0 0 0 1 1 1
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 0 1 1 1
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 0 1 1 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 1 0 1 1 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 1 0 1 1 1
Hypertrophic cardiomyopathy 0 0 0 0 1 1 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 1 0 1 1 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 1 0 1 1 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 1 0 1 1 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 1 1 1
Immunodeficiency 23 0 0 0 1 0 1 1 1
Inclusion body myositis; GNE myopathy 0 0 0 1 0 1 1 1
Infantile nephronophthisis 0 0 0 1 0 1 1 1
Infantile neuroaxonal dystrophy 0 0 0 1 0 1 1 1
Intellectual disability, mild 0 0 0 0 0 1 1 1
Intellectual disability, severe 0 0 0 1 0 1 1 1
Intestinal malrotation 0 0 0 1 0 1 1 1
Isolated growth hormone deficiency type 1B 0 0 0 1 0 1 1 1
Jeune thoracic dystrophy 0 0 0 1 0 1 1 1
Joubert syndrome 0 0 0 1 0 1 1 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 0 0 0 1 1 1
Joubert syndrome; Oral-facial-digital syndrome 0 0 0 1 0 1 1 1
Juvenile neuronal ceroid lipofuscinosis 0 0 0 1 0 1 1 1
Juvenile polyposis syndrome 0 0 0 1 0 1 1 1
Kilquist Syndrome 0 0 0 1 0 1 1 1
Laminin alpha 2-related dystrophy 0 0 0 1 0 1 1 1
Leber congenital amaurosis 0 0 0 1 0 1 1 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 1 1 1
Leptin receptor deficiency 0 0 0 1 0 1 1 1
Lethal multiple pterygium syndrome 0 0 0 1 0 1 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 1 1 1
Loeys-Dietz syndrome 4 0 0 0 1 0 1 1 1
Long QT syndrome 0 0 0 1 0 1 1 1
Lowe syndrome 0 0 0 1 0 1 1 1
MBD5 associated neurodevelopmental disorder 0 0 0 1 0 1 1 1
MECP2 duplication syndrome 0 0 0 1 0 1 1 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 0 0 0 0 1 1
Majeed syndrome 0 0 0 1 0 1 1 1
Marfan syndrome 0 0 0 1 0 1 1 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 1 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 1 0 1 1 1
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 0 0 0 1 1 1
Mental retardation, autosomal dominant 18 0 0 0 1 0 1 1 1
Mental retardation, autosomal recessive 7 0 0 0 1 0 1 1 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 0 0 0 1 1 1
Mitochondrial complex I deficiency 0 0 0 0 0 1 1 1
Mowat-Wilson syndrome 0 0 0 1 0 1 1 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 1 0 1 1 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 1 0 1 1 1
Multiple exostoses type 2 0 0 0 1 0 1 1 1
Myoclonic dystonia 0 0 0 1 0 1 1 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 0 0 0 0 1 1 1
Myopathy, distal, 1 0 0 0 0 1 1 1 1
Myosclerosis 0 0 0 0 1 1 1 1
Myosin storage myopathy 0 0 0 0 1 1 1 1
Nemaline myopathy 6 0 0 0 1 0 1 1 1
Neoplasm of the breast 0 0 0 1 0 1 1 1
Nephronophthisis 0 0 0 0 1 1 1 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 1 0 1 1 1
Neuroblastoma 3 0 0 0 0 0 1 1 1
Neurodevelopmental disorder 0 0 0 1 0 1 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 0 1 0 1 1 1
Neurofibromatosis, type 2 0 0 0 0 0 1 1 1
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 0 0 0 0 0 1 1 1
Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 0 0 0 0 1 1 1 1
Optic nerve hypoplasia 0 0 0 1 0 1 1 1
Osler hemorrhagic telangiectasia syndrome 0 0 0 1 0 1 1 1
Osteogenesis imperfecta type 10 0 0 0 1 0 1 1 1
Osteogenesis imperfecta type I 0 0 0 1 0 1 1 1
Ovarian cancer; breast cancer 0 0 0 1 0 1 1 1
PTEN hamartoma tumor syndrome 0 0 0 1 0 1 1 1
Parkinson disease 2 0 0 0 1 0 1 1 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 1 1 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 1 0 1 1 1
Peripheral neuropathy 0 0 0 0 0 1 1 1
Pitt-Hopkins syndrome 0 0 0 1 0 1 1 1
Pitt-Hopkins-like syndrome 2 0 0 0 1 0 1 1 1
Polycystic kidney disease, adult type 0 0 0 1 0 1 1 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 1 0 1 1 1
Poretti-Boltshauser syndrome 0 0 0 1 0 1 1 1
Prader-Willi syndrome 0 0 0 1 0 1 1 1
Premature ovarian insufficiency 0 0 0 1 0 1 1 1
Primary ciliary dyskinesia 0 0 0 1 0 1 1 1
Primary hyperoxaluria, type I 0 0 0 0 0 1 1 1
Progressive familial heart block type 1B 0 0 0 0 0 1 1 1
Progressive intrahepatic cholestasis 0 0 0 1 0 1 1 1
Progressive myoclonus epilepsy with ataxia 0 0 0 1 0 1 1 1
Pseudoxanthoma elasticum 0 0 0 1 0 1 1 1
RHD DEL 0 0 0 1 0 1 1 1
Renal cyst; Pancreatic cysts 0 0 0 1 0 1 1 1
Renal transitional cell carcinoma 0 0 0 1 0 1 1 1
Retinal dystrophy 0 0 0 1 0 1 1 1
Retinitis pigmentosa 0 0 0 1 0 1 1 1
RhD negative 0 0 0 1 0 1 1 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 1 0 1 1 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 1 0 1 1 1
Scapuloperoneal myopathy 0 0 0 0 1 1 1 1
Schizophrenia 0 0 0 1 0 1 1 1
Schizophrenia 17 0 0 0 1 0 1 1 1
See cases 0 0 0 1 0 1 1 1
Seizures; Intellectual disability 0 0 0 1 0 1 1 1
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 0 0 0 1 1 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0 0 0 1 0 1 1 1
Spastic paraplegia 0 0 0 0 0 1 1 1
Spastic paraplegia 11, autosomal recessive 0 0 0 0 0 1 1 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 0 1 1 1 1
Spastic paraplegia 4, autosomal dominant 0 0 0 1 0 1 1 1
Spherocytosis type 2 0 0 0 1 0 1 1 1
Spinal muscular atrophy, distal, autosomal recessive, 5 0 0 0 0 0 1 1 1
Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy type 4 0 0 0 1 0 1 1 1
Spinocerebellar ataxia 15 0 0 0 1 0 1 1 1
Spinocerebellar ataxia 27 0 0 0 1 0 1 1 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 1 0 1 1 1
Split-Hand/Foot Malformation 0 0 0 1 0 1 1 1
Spondylocostal dysostosis 5 0 0 0 1 0 1 1 1
Stargardt disease 1 0 0 0 1 0 1 1 1
T-cell acute lymphoblastic leukemia 0 0 0 1 0 1 1 1
Tetralogy of Fallot 0 0 0 1 0 1 1 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 1 1 1
Treacher Collins syndrome 1 0 0 0 1 0 1 1 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 1 0 1 1 1
Uniparental disomy, paternal, chromosome 14 0 0 0 1 0 1 1 1
Usher syndrome 0 0 0 1 0 1 1 1
Vici syndrome 0 0 0 1 0 1 1 1
Visceral myopathy 0 0 0 1 0 1 1 1
Vitamin B2 deficiency 0 0 0 1 0 1 1 1
White-sutton syndrome 0 0 0 0 0 1 0 1
Wilson disease 0 0 0 1 0 1 1 1
alpha Thalassemia 0 0 0 1 0 1 1 1
not provided; not provided 0 0 0 0 0 1 1 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_001256182.2(ANKRD11):c.7519C>A (p.Gln2507Lys) rs572878194
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln) rs199800166
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=)
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=)
NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=)
NM_013275.6(ANKRD11):c.4609G>A (p.Gly1537Ser) rs1347006212
NM_013275.6(ANKRD11):c.4667C>G (p.Ala1556Gly) rs781186923
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=) rs143426579
NM_013275.6(ANKRD11):c.5250C>T (p.Thr1750=)
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu)
NM_013275.6(ANKRD11):c.6712A>G (p.Ser2238Gly)
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val)
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His)
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464
NM_015100.4(POGZ):c.130G>A (p.Val44Met) rs752798900
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp) rs267598016
NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys)
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188
NM_015100.4(POGZ):c.757C>T (p.Pro253Ser)
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
Single allele

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