ClinVar Miner

Intergenic variants

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Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found drug response other not provided total
650 165 3935 846 1776 1 8 1 4 94 142 7605

Condition and significance breakdown #

Total conditions: 448
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found drug response other not provided total
See cases 390 22 2924 483 1601 0 0 0 0 0 0 5417
not provided 35 7 429 307 55 0 0 0 0 0 28 856
not specified 6 1 370 22 60 0 0 0 0 0 1 458
Familial colorectal cancer 0 0 0 0 0 0 0 0 0 94 0 94
Biotinidase deficiency 4 42 0 0 0 0 0 0 0 0 0 46
Premature ovarian failure 0 0 0 0 44 0 0 0 0 0 0 44
Normal pregnancy 0 0 0 0 0 0 0 0 0 0 31 31
Abnormal esophagus morphology 0 0 2 21 5 0 0 0 0 0 0 28
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 0 0 0 0 0 28 28
Preeclampsia 0 0 0 0 0 0 0 0 0 0 27 27
Autism spectrum disorder 11 14 1 0 0 0 0 0 0 0 0 24
Fanconi anemia complementation group A 24 0 0 0 0 0 0 0 0 0 0 24
Small for gestational age 0 0 1 0 0 0 0 0 0 0 21 22
Large for gestational age 0 0 0 0 0 0 0 0 0 0 19 19
Autistic behavior 2 0 6 0 0 0 0 0 0 0 0 8
Breast-ovarian cancer, familial, susceptibility to, 1 6 0 2 0 0 0 0 0 0 0 0 8
Central core myopathy 8 0 0 0 0 0 0 0 0 0 0 8
Global developmental delay 1 2 5 0 0 0 0 0 0 0 0 8
Primary amenorrhea 0 0 4 3 0 0 0 0 0 0 0 7
Structural brain abnormalities; Neurological deficit 7 0 0 0 0 0 0 0 0 0 0 7
Cholestanol storage disease 6 0 0 0 0 0 0 0 0 0 0 6
Coffin-Siris syndrome 1 0 2 4 0 0 0 0 0 0 0 0 6
Knobloch syndrome 1 1 3 0 1 1 0 0 0 0 0 0 6
Megacolon 0 0 6 0 0 0 0 0 0 0 0 6
Mitochondrial inheritance 0 0 6 0 0 0 0 0 0 0 0 6
Autism 0 0 4 0 0 0 0 0 0 0 0 4
Cholangiocarcinoma 1 0 0 0 0 0 0 0 0 0 3 4
Hereditary spastic paraplegia 11 4 0 0 0 0 0 0 0 0 0 0 4
Spinocerebellar ataxia type 1 0 0 2 2 0 0 0 0 0 0 0 4
Tubulointerstitial kidney disease, autosomal dominant, 2 0 0 0 0 0 0 0 0 0 0 4 4
Abnormality of prenatal development or birth 1 1 1 0 0 0 0 0 0 0 0 3
Acromelic frontonasal dysostosis; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 3 0 0 0 0 0 0 0 0 3
Carcinoma of colon 0 0 0 0 0 0 3 0 0 0 0 3
Cervical cancer 0 0 0 0 0 0 0 0 0 0 3 3
Failure to thrive 0 0 3 0 0 0 0 0 0 0 0 3
Gastric cancer 0 0 0 0 0 0 0 0 0 0 3 3
Intellectual disability 1 1 1 0 0 0 0 0 0 0 0 3
Keratoconus 0 0 3 0 0 0 0 0 0 0 0 3
Lung cancer 0 0 0 0 0 0 0 0 0 0 3 3
Monogenic diabetes 0 2 1 0 0 0 0 0 0 0 0 3
Seizure 0 1 2 0 0 0 0 0 0 0 0 3
15q11q13 microduplication syndrome 2 0 0 0 0 0 0 0 0 0 0 2
46,XY sex reversal 1 2 0 0 0 0 0 0 0 0 0 0 2
Acute myeloid leukemia 1 0 0 0 0 0 0 0 0 0 1 2
Benign concentric annular macular dystrophy; Vitelliform macular dystrophy 4 0 0 2 0 0 0 0 0 0 0 0 2
Breast ductal adenocarcinoma 0 0 2 0 0 0 0 0 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 0 1 0 0 0 0 0 0 2
Chromosome 17p13.1 deletion syndrome 1 1 0 0 0 0 0 0 0 0 0 2
Chromosome 2q37 deletion syndrome 2 0 0 0 0 0 0 0 0 0 0 2
Chronic obstructive pulmonary disease 0 0 0 0 0 0 2 0 0 0 0 2
Chronic osteomyelitis 0 0 0 0 0 0 2 0 0 0 0 2
Colorectal cancer 2 0 0 0 0 0 0 0 0 0 0 2
Craniosynostosis syndrome 0 0 1 1 0 0 0 0 0 0 0 2
Delayed speech and language development 1 0 1 0 0 0 0 0 0 0 0 2
Dentatorubral-pallidoluysian atrophy 1 0 0 1 0 0 0 0 0 0 0 2
Developmental cataract 0 0 0 2 0 0 0 0 0 0 0 2
DiGeorge syndrome 2 0 0 0 0 0 0 0 0 0 0 2
Encephalopathy 0 1 1 0 0 0 0 0 0 0 0 2
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2 1 0 1 0 0 0 0 0 0 0 0 2
Glycogen storage disease, type IV 2 0 0 0 0 0 0 0 0 0 0 2
Head and neck cancer 0 0 2 0 0 0 0 0 0 0 0 2
Hearing loss, autosomal recessive 118, with cochlear aplasia 2 0 0 0 0 0 0 0 0 0 0 2
Hematologic neoplasm 2 0 0 0 0 0 0 0 0 0 0 2
Hereditary spastic paraplegia 31 1 0 1 0 0 0 0 0 0 0 0 2
Leber optic atrophy 0 0 0 0 2 0 0 0 0 0 0 2
MELAS syndrome 0 0 0 0 2 0 0 0 0 0 0 2
Male infertility 0 0 2 0 0 0 0 0 0 0 0 2
Microcephaly 6 with or without short stature 0 1 1 0 0 0 0 0 0 0 0 2
Obesity 2 0 0 0 0 0 0 0 0 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 0 0 0 0 2 2
Proximal 16p11.2 microdeletion syndrome 2 0 0 0 0 0 0 0 0 0 0 2
Radial aplasia-thrombocytopenia syndrome 1 1 0 0 0 0 0 0 0 0 0 2
Rothmund-Thomson syndrome type 2 1 0 1 0 0 0 0 0 0 0 0 2
Sarcoma 0 0 0 0 0 0 0 0 0 0 2 2
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome; Creatine transporter deficiency 0 2 0 0 0 0 0 0 0 0 0 2
Statins, attenuated cholesterol lowering by 0 0 0 0 0 0 0 0 2 0 0 2
Steinert myotonic dystrophy syndrome 1 0 0 0 1 0 0 0 0 0 0 2
Syndromic intellectual disability 0 0 2 0 0 0 0 0 0 0 0 2
Tuberous sclerosis 1 0 0 2 0 0 0 0 0 0 0 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 0 0 0 0 2 2
Venous thromboembolism 0 0 0 0 0 1 0 1 0 0 0 2
16p13.11 microdeletion syndrome 1 0 0 0 0 0 0 0 0 0 0 1
16p13.2-p13.13 microduplication syndrome 1 0 0 0 0 0 0 0 0 0 0 1
3-methylglutaconic aciduria type 9 0 0 1 0 0 0 0 0 0 0 0 1
5-Oxoprolinase deficiency 0 0 1 0 0 0 0 0 0 0 0 1
9p partial trisomy syndrome 1 0 0 0 0 0 0 0 0 0 0 1
ATM-related cancer predisposition 1 1 0 0 0 0 0 0 0 0 0 1
Abnormal facial shape 0 0 1 0 0 0 0 0 0 0 0 1
Abnormal facial shape; Intellectual disability 1 0 0 0 0 0 0 0 0 0 0 1
Abnormal pinna morphology; Congenital sensorineural hearing impairment; Severe sensorineural hearing impairment 0 0 1 0 0 0 0 0 0 0 0 1
Abnormal pinna morphology; Mild global developmental delay; Chronic constipation 0 0 1 0 0 0 0 0 0 0 0 1
Abnormality of the eye; Global developmental delay 0 0 1 0 0 0 0 0 0 0 0 1
Abnormality of the nervous system 0 0 1 0 0 0 0 0 0 0 0 1
Abnormality of the nervous system; Atypical behavior; Abnormality of the genital system; Specific learning disability; Abnormality of the urinary system; Abnormality of vision; Abnormality of limbs 0 1 0 0 0 0 0 0 0 0 0 1
Acanthosis nigricans; Obesity; Global developmental delay; Abnormality of skin pigmentation; Tapered finger; Deeply set eye; Macrotia; Abnormal facial shape; Anteverted nares; Macroorchidism; Abnormality of the dentition; Carious teeth; Gynecomastia; Hyperpigmentation of the skin; Long ear 0 0 1 0 0 0 0 0 0 0 0 1
Agammaglobulinemia 5, autosomal dominant 1 0 0 0 0 0 0 0 0 0 0 1
Allan-Herndon-Dudley syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment; Global developmental delay; Failure to thrive; Microcephaly; Gastroesophageal reflux; Pulmonary lymphangiectasia 1 0 0 0 0 0 0 0 0 0 0 1
Angiosarcoma 0 1 0 0 0 0 0 0 0 0 0 1
Anophthalmia-microphthalmia syndrome 0 0 1 0 0 0 0 0 0 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Aplasia of the uterus 0 0 1 0 0 0 0 0 0 0 0 1
Arthrogryposis, renal dysfunction, and cholestasis 2 1 0 0 0 0 0 0 0 0 0 0 1
Astrocytoma 0 1 0 0 0 0 0 0 0 0 0 1
Atrial septal defect; Autistic behavior; Tracheomalacia; Gastroesophageal reflux 0 1 0 0 0 0 0 0 0 0 0 1
Atypical behavior 0 0 1 0 0 0 0 0 0 0 0 1
Atypical behavior; Abnormal facial shape 1 0 0 0 0 0 0 0 0 0 0 1
Atypical behavior; Impaired visuospatial constructive cognition; Mild global developmental delay 0 0 1 0 0 0 0 0 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 0 1 0 0 0 0 0 0 0 0 1
Autism spectrum disorder; Macrocephaly 0 1 0 0 0 0 0 0 0 0 0 1
Autistic behavior; Growth delay; Agitation; Anxiety; Intellectual disability; Poor speech; Recurrent fractures; Reduced bone mineral density 1 0 0 0 0 0 0 0 0 0 0 1
Autistic behavior; Hemangioma; Eczematoid dermatitis; Macrotia; Arachnodactyly; High forehead; Mild intellectual disability; Sandal gap; Mild global developmental delay; Narrow nasal base 0 0 1 0 0 0 0 0 0 0 0 1
Autistic behavior; Mild intellectual disability; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Autistic behavior; Posteriorly rotated ears; Hirsutism; Delayed speech and language development; Downslanted palpebral fissures; Strabismus; Protruding tongue; Moderate global developmental delay 0 0 1 0 0 0 0 0 0 0 0 1
Autistic behavior; Seizure 0 0 1 0 0 0 0 0 0 0 0 1
Autistic behavior; Seizure; EEG with temporal focal spikes 0 0 1 0 0 0 0 0 0 0 0 1
Autosomal dominant cone dystrophy with early tritanopia 1 0 0 0 0 0 0 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 2A 1 0 0 0 0 0 0 0 0 0 0 1
Autosomal recessive congenital ichthyosis 1 0 0 0 0 0 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy 0 1 0 0 0 0 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 1 0 0 0 0 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 0 0 0 0 1 0 0 0 0 0 0 1
Autosomal recessive osteopetrosis 7 1 0 0 0 0 0 0 0 0 0 0 1
Autosomal recessive osteopetrosis 8 0 1 0 0 0 0 0 0 0 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 0 0 0 0 0 0 0 1
Bamforth-Lazarus syndrome; Thyroid cancer, nonmedullary, 4 0 0 1 0 0 0 0 0 0 0 0 1
Bladder exstrophy 0 0 1 0 0 0 0 0 0 0 0 1
Brachydactyly type B1; Developmental cataract; Teeth, fused; Seizure; Posteriorly rotated ears; Delayed speech and language development; Downslanted palpebral fissures; Open mouth; Strabismus; Sparse and thin eyebrow; Toe clinodactyly; Drooling; Abnormality of temperature regulation; Prominent metopic ridge; Impaired pain sensation; Generalized neonatal hypotonia; Inflammatory abnormality of the skin; Midface retrusion; Chronic constipation; Patent ductus arteriosus 1 0 0 0 0 0 0 0 0 0 0 1
Brittle cornea syndrome 1 0 1 0 0 0 0 0 0 0 0 0 1
CHARGE syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Cafe au lait spots, multiple; Seizure; Global brain atrophy; Macular hypopigmented whorls, streaks, and patches 0 0 1 0 0 0 0 0 0 0 0 1
Cardiac arrhythmia; Diabetes mellitus type 1; Atrial septal defect; Tricuspid regurgitation; Abnormal facial shape; Strabismus; Mitral regurgitation; Abnormal autonomic nervous system physiology; Abnormal periventricular white matter morphology; Ectopic pancreatic tissue; Abnormality of skin physiology; Abnormal renal morphology; Vasovagal syncope 0 0 1 0 0 0 0 0 0 0 0 1
Cataract; Ambiguous genitalia; Penile hypospadias 1 0 0 0 0 0 0 0 0 0 0 1
Cerebellar ataxia; Global developmental delay; Absent speech; Spastic diplegia; Drooling 0 0 1 0 0 0 0 0 0 0 0 1
Cerebellar ataxia; Global developmental delay; Atypical behavior; Generalized-onset seizure; Recurrent fractures 0 1 0 0 0 0 0 0 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 0 0 1 0 0 0 0 0 0 1
Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 0 0 1 0 0 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Pheochromocytoma/paraganglioma syndrome 3 1 0 0 0 0 0 0 0 0 0 0 1
Choroideremia 0 1 0 0 0 0 0 0 0 0 0 1
Chromosome 10q23 deletion syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Chromosome 16q12 duplication syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Chromosome 17P13.3, telomeric, duplication syndrome 0 0 1 0 0 0 0 0 0 0 0 1
Chromosome 17q12 deletion syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Chromosome 17q12 duplication syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Chromosome 1p32-p31 deletion syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Chromosome 1q21.1 duplication syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Chromosome 22q11.2 deletion syndrome, distal 1 0 0 0 0 0 0 0 0 0 0 1
Chromosome 22q11.2 microduplication syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Chromosome 3q29 microdeletion syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Chronic myeloid leukemia 0 0 0 1 0 0 0 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 0 0 0 0 1 1
Cleft soft palate; Isolated Pierre-Robin syndrome; Global developmental delay; Retrognathia; Feeding difficulties; Open mouth; Microretrognathia; Facial asymmetry; Pectus carinatum; Hypoplastic scapulae; Abnormality of the costochondral junction; Neonatal hypotonia; Hypoplasia of deltoid muscle; Abnormal occipital bone morphology 0 0 1 0 0 0 0 0 0 0 0 1
Cleft soft palate; Isolated Pierre-Robin syndrome; Seizure; Micrognathia; Microcephaly; Gynecomastia; Decreased response to growth hormone stimulation test; Intellectual disability; Acute pancreatitis; Inability to walk; Abnormal subcutaneous fat tissue distribution; Gastrostomy tube feeding in infancy; Movement disorder 0 0 1 0 0 0 0 0 0 0 0 1
Cleft upper lip; Mixed hearing impairment; Abnormality of the inner ear; Double aortic arch; Hypotonia; Asthma 0 0 1 0 0 0 0 0 0 0 0 1
Cleft upper lip; Motor delay; Enuresis; Abnormal skull morphology; Delayed speech and language development; Facial asymmetry; Anxiety; Mild intellectual disability; Mild global developmental delay; Heart murmur 1 0 0 0 0 0 0 0 0 0 0 1
Clubfoot; Seizure; Short stature; Atypical behavior; Aggressive behavior; Absent speech; Microcephaly; Lower limb hypertonia; Severe global developmental delay; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Coarctation of aorta; Atrial septal defect; Abnormal cardiovascular system morphology; Transposition of the great arteries; Hypertonia; Hemiparesis; Cerebral ischemia; Lower limb muscle weakness; Double inlet left ventricle; Hypoplastic aortic arch; Hypotonia; Patent ductus arteriosus 0 1 0 0 0 0 0 0 0 0 0 1
Collagen 6-related myopathy 0 0 1 0 0 0 0 0 0 0 0 1
Coloboma of optic nerve; Piebaldism; Unsteady gait; Conductive hearing impairment; Hyperpigmentation of the skin; Bruising susceptibility; Hypopigmented skin patches; Mild intellectual disability; Joint laxity; Bulbous tips of toes; White forelock; Abnormality of thyroid physiology; Reduced visual acuity; Lower limb asymmetry; Hyperconvex toenail; Ventricular septal defect 0 0 1 0 0 0 0 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 1 1 0 0 0 0 0 0 0 0 0 0 1
Compton-North congenital myopathy 0 0 1 0 0 0 0 0 0 0 0 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 1 0 0 0 0 0 0 0 0 1
Congenital cerebellar hypoplasia; Abnormal facial shape; Abnormal ileum morphology; Abnormal calvaria morphology; Bronchogenic cyst 0 0 1 0 0 0 0 0 0 0 0 1
Congenital diaphragmatic hernia 0 0 1 0 0 0 0 0 0 0 0 1
Congenital heart defects and ectodermal dysplasia 0 0 1 0 0 0 0 0 0 0 0 1
Congenital hydrocephalus 0 1 0 0 0 0 0 0 0 0 0 1
Congenital myotonia, autosomal recessive form 0 0 1 0 0 0 0 0 0 0 0 1
Congenital vertical talus; Mild global developmental delay; Hypotonia 0 1 0 0 0 0 0 0 0 0 0 1
Corpus callosum, agenesis of; Lissencephaly; Microcephaly; Generalized hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Cryptorchidism; Duane retraction syndrome; Atrial septal defect; Global developmental delay; Abnormal cardiovascular system morphology; Scoliosis; Growth delay; Proximal lower limb muscle weakness; Chronic constipation; Ventricular septal defect; Asthma 0 0 1 0 0 0 0 0 0 0 0 1
Cryptorchidism; Esotropia; Plagiocephaly; Global developmental delay; Short stature; Inguinal hernia; Nystagmus; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 0 0 1
Cryptorchidism; Global developmental delay; Autistic behavior; Expressive language delay; Seizure; Failure to thrive; Growth delay; Receptive language delay; Abnormal facial shape; Unilateral renal agenesis; Anxiety; Missing ribs; Delayed gross motor development; Delayed fine motor development; Dilatation of the sinus of Valsalva 1 0 0 0 0 0 0 0 0 0 0 1
Cryptorchidism; Motor delay; Hallux valgus; Sacral dimple; Axial hypotonia; Ulnar deviation of the hand; Appendicular hypotonia; Absent vas deferens; Heart murmur 1 0 0 0 0 0 0 0 0 0 0 1
Cryptorchidism; Sensorineural hearing loss disorder; High palate; Pes planus; Delayed speech and language development; Macrocephaly; Strabismus; Metatarsus adductus; Sacral hypertrichosis; Moderate global developmental delay; Lumbar hypertrichosis; Camptodactyly of finger; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Cystic hygroma 0 1 0 0 0 0 0 0 0 0 0 1
Deafness-infertility syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Delayed puberty 0 1 0 0 0 0 0 0 0 0 0 1
Delayed speech and language development; Abnormal speech pattern; Obsessive-compulsive trait 1 0 0 0 0 0 0 0 0 0 0 1
Delayed speech and language development; Macrocephaly 0 0 1 0 0 0 0 0 0 0 0 1
Developmental cataract; Macrocephaly; Mild global developmental delay; Widened subarachnoid space 0 0 1 0 0 0 0 0 0 0 0 1
Diaphragmatic hernia 0 0 1 0 0 0 0 0 0 0 0 1
Dihydropteridine reductase deficiency 0 0 1 0 0 0 0 0 0 0 0 1
Distal monosomy 13q 1 0 0 0 0 0 0 0 0 0 0 1
Dyggve-Melchior-Clausen syndrome 0 1 0 0 0 0 0 0 0 0 0 1
EEG abnormality; Uterine hypoplasia; Primary amenorrhea; Clinodactyly of the 5th toe; 3-4 toe syndactyly; Aplasia of the ovary; Abnormal sex determination 0 0 1 0 0 0 0 0 0 0 0 1
ENDOVE syndrome, limb-only type 1 0 0 0 0 0 0 0 0 0 0 1
ENDOVES (EN1-associated dorsoventral syndrome) 1 0 0 0 0 0 0 0 0 0 0 1
Ear malformation; Olivopontocerebellar atrophy; Global developmental delay; Motor delay; Autistic behavior; Hearing impairment; Tall stature; Clinodactyly of the 5th finger; Delayed speech and language development; Hypoplastic nipples; Abnormal retinal vascular morphology; Generalized neonatal hypotonia; Abnormal number of hair whorls; Delayed myelination; Abnormality of the tonsils; Attention deficit hyperactivity disorder; Abnormal nasopharyngeal adenoid morphology 0 0 1 0 0 0 0 0 0 0 0 1
Ectrodactyly 1 0 0 0 0 0 0 0 0 0 0 1
Epiblepharon of lower lid; Global developmental delay; Visual impairment; Feeding difficulties; Brachycephaly; Short lingual frenulum; Microcephaly; Intellectual disability; Downturned corners of mouth; Acromesomelia; Supraventricular tachycardia; Retinal dysplasia; Complete duplication of thumb phalanx; Midface retrusion; Recurrent hand flapping; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormal nail morphology; Mitral regurgitation; Aortic regurgitation; Capillary hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Clubfoot; Psychotic episodes; Mild intellectual disability; Joint hypermobility; Mild global developmental delay; Abnormal emotional state 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Corpus callosum, agenesis of; Esotropia; Global developmental delay; Hemihypertrophy; Inguinal hernia; Atypical behavior; Scoliosis; Overgrowth; Unsteady gait; Abnormal facial shape; Poor head control; Hydrocephalus; Facial asymmetry; Gait imbalance; Poor motor coordination; Chiari malformation; Cortical dysplasia; High, narrow palate; Increased mean corpuscular volume; Metopic synostosis; Heart murmur; Ventricular septal defect; Attention deficit hyperactivity disorder; Asthma 0 0 1 0 0 0 0 0 0 0 0 1
Epicanthus; Craniosynostosis syndrome; Global developmental delay; Growth delay; Abnormal facial shape; Broad thumb; Cafe-au-lait spot; Depressed nasal bridge; Overlapping toe; Short philtrum; Hypoplastic labia majora; Thin upper lip vermilion; Microcephaly; Strabismus; Accelerated skeletal maturation; Multiple palmar creases; Broad hallux phalanx 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Cryptorchidism; Global developmental delay; Autistic behavior; Seizure; Low-set ears; Stereotypic movement disorder; Absent speech; Myopia; Macrocephaly; Coarse hair; Thick vermilion border; Reduced social responsiveness; Attention deficit hyperactivity disorder 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Ear malformation; Global developmental delay; Autistic behavior; Abnormal facial shape; Absent speech; Joint laxity; Achalasia; Abnormal muscle tone; Hypoplasia of the frontal lobes; Abnormality of the gastrointestinal tract; EEG with abnormally slow frequencies; Prominent forehead; Delayed myelination 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Ebstein anomaly; Congenital ectopic pupil; Atrial septal defect; Motor delay; Visual impairment; Long palpebral fissure; Atrial septal defect, ostium secundum type; Mandibular prognathia; Broad forehead; Cyanosis; Premature birth; Shawl scrotum; Short neck; Short nose; Anterior synechiae of the anterior chamber; Square face; Long philtrum; Sclerocornea; Pulmonary artery stenosis; Respiratory failure requiring assisted ventilation; Corneal opacity; Prominent forehead; Mild global developmental delay; Generalized opacification of the cornea; Chin with horizontal crease; Wide nasal base 0 0 1 0 0 0 0 0 0 0 0 1
Epicanthus; Feeding difficulties; Scoliosis; Abnormal earlobe morphology; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Epicanthus; Global developmental delay; Cerebral palsy; Seizure; EEG abnormality; Abnormal facial shape; Depressed nasal bridge; Short philtrum; Myoclonus; Abnormal cerebral white matter morphology; Medial flaring of the eyebrow; Reduced social responsiveness; Tip-toe gait; Hypotonia 0 1 0 0 0 0 0 0 0 0 0 1
Epicanthus; Global developmental delay; Seizure; Eczematoid dermatitis; Abnormal facial shape; Speech apraxia; Wide mouth; Wide nasal bridge; Long eyelashes; Abnormality of the musculature; Hyperactive patellar reflex; Autoimmune hypoparathyroidism 0 1 0 0 0 0 0 0 0 0 0 1
Epicanthus; Global developmental delay; Seizure; Micrognathia; Anteverted nares; Delayed speech and language development; Thin upper lip vermilion; Microcephaly; Upturned corners of mouth 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Hypertelorism; Coarctation of aorta; Global developmental delay; Inguinal hernia; Bilateral cryptorchidism; Downslanted palpebral fissures; Short neck; Thin vermilion border; Wide intermamillary distance; Wide nose; Penile hypospadias; Low-set, posteriorly rotated ears; Thickened helices; Strabismus; Abnormal number of hair whorls; Bicuspid aortic valve; Smooth philtrum 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Hypertelorism; Esotropia; Hirsutism; Macrotia; Mandibular prognathia; Depressed nasal bridge; Prominent nose; Abnormality of the tongue; Gingival overgrowth; Delayed eruption of primary teeth; Thickened skin; Short columella; Facial hyperostosis; Concave nasal ridge; Long upper lip 0 1 0 0 0 0 0 0 0 0 0 1
Epicanthus; Hypertelorism; Micrognathia; Delayed speech and language development; Overlapping toe; Short philtrum; Macrocephaly; Dolichocephaly; Mild conductive hearing impairment; Severe global developmental delay; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Epicanthus; Micrognathia; Posteriorly rotated ears; Hearing impairment; Feeding difficulties; Optic nerve hypoplasia; Tall stature; Nystagmus; Tracheomalacia; Stereotypic movement disorder; Abnormal facial shape; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Short philtrum; Abnormality of eye movement; Polydactyly of a biphalangeal thumb; Decreased fetal movement; Broad toe; Generalized non-motor (absence) seizure; Ankle flexion contracture; Reduced visual acuity; Hypoplastic helices; 1-2 finger cutaneous syndactyly; Severe intellectual disability; Severe global developmental delay; Gastrostomy tube feeding in infancy; Thick vermilion border; Reduced social responsiveness 0 0 1 0 0 0 0 0 0 0 0 1
Epicanthus; Pectus excavatum; Pulmonic stenosis; Motor delay; Autistic behavior; Constipation; Hypertonia; Ptosis; Hypermetropia; Macrotia; Abnormal facial shape; Delayed speech and language development; Prominent nose; Specific learning disability; Thin upper lip vermilion; Microcephaly; Overfolded helix; Recurrent otitis media; Prominent nasal bridge; Delayed closure of the anterior fontanelle; Broad foot; Dyscalculia; Finger syndactyly 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Pectus excavatum; Telecanthus; Alopecia areata; Micrognathia; Abnormal facial shape; Abnormality of the outer ear; Osteoporosis; Coarse hair; Frontal upsweep of hair; Recurrent fractures 0 1 0 0 0 0 0 0 0 0 0 1
Epicanthus; Seizure; Scoliosis; Clinodactyly of the 5th finger; Depressed nasal bridge; Dysphasia 0 0 1 0 0 0 0 0 0 0 0 1
Epicanthus; Seizure; Tapered finger; Spasticity; Microtia; Abnormal facial shape; Absent speech; Downslanted palpebral fissures; Preauricular pit; Specific learning disability; Penile hypospadias; Microcephaly; Microretrognathia; Atresia of the external auditory canal; Abnormality of vision; Inability to walk; Posteriorly placed tongue; Severe intellectual disability 0 1 0 0 0 0 0 0 0 0 0 1
Epicanthus; Short phalanx of finger; Hypertonia; Brachycephaly; Deeply set eye; Macrotia; Short nose; Wide mouth; Hydrocele testis; Umbilical hernia; Hypoplastic nasal bridge 1 0 0 0 0 0 0 0 0 0 0 1
Epicanthus; Telecanthus; Global developmental delay; Hyperactivity; Growth delay; Abnormal facial shape; Anteverted nares; Wide nasal bridge; Thin upper lip vermilion; Cerebral calcification; Speech articulation difficulties; Midface retrusion; Short palpebral fissure 0 1 0 0 0 0 0 0 0 0 0 1
Esophageal atresia/tracheoesophageal fistula 1 0 0 0 0 0 0 0 0 0 0 1
Expressive language delay; Abnormal skull morphology; Abnormal facial skeleton morphology 0 0 1 0 0 0 0 0 0 0 0 1
Expressive language delay; Aggressive behavior; Joint hypermobility; Dyscalculia; Poor fine motor coordination 0 1 0 0 0 0 0 0 0 0 0 1
Expressive language delay; Growth delay; EEG abnormality; Receptive language delay; Severe intellectual disability; Abnormal nervous system physiology 0 1 0 0 0 0 0 0 0 0 0 1
Failure to thrive; Feeding difficulties; Small for gestational age 0 0 1 0 0 0 0 0 0 0 0 1
Failure to thrive; Fetal growth restriction; Abnormal facial shape; Microcephaly 0 1 0 0 0 0 0 0 0 0 0 1
Failure to thrive; Weight loss; Feeding difficulties; Growth delay; Brachycephaly; Deeply set eye; Pointed chin; Malar flattening; Narrow mouth; Agitation; Nephrolithiasis; Reduced eye contact; Panhypopituitarism; Lower limb spasticity; Generalized myoclonic seizure; Episodic abdominal pain; Limb joint contracture; Upper limb spasticity; Prominent forehead; Severe global developmental delay; Decreased activity of mitochondrial complex III 1 0 0 0 0 0 0 0 0 0 0 1
Familial adenomatous polyposis 1 1 1 0 0 0 0 0 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 0 0 0 0 0 1 1
Familial median cleft of the upper and lower lips 1 0 0 0 0 0 0 0 0 0 0 1
Familial prostate cancer 0 0 0 0 0 0 1 0 0 0 0 1
Fanconi anemia complementation group G 0 0 1 0 0 0 0 0 0 0 0 1
Focal impaired awareness seizure; Abnormal facial shape; Hydrocephalus; Dolichocephaly; High forehead; Absent septum pellucidum; Aqueductal stenosis; Persistent open anterior fontanelle; Dysplastic corpus callosum; Prominent forehead 0 0 1 0 0 0 0 0 0 0 0 1
Focal segmental glomerulosclerosis 4, susceptibility to 0 1 0 0 0 0 0 0 0 0 0 1
Follicular atrophoderma and basal cell epitheliomata 1 0 0 0 0 0 0 0 0 0 0 1
GPR89B-related condition 0 0 1 0 0 0 0 0 0 0 0 1
Generalized juvenile polyposis/juvenile polyposis coli 1 0 0 0 0 0 0 0 0 0 0 1
Gilbert syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Abnormal facial shape; Hypoplasia of the frontal lobes; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Absent speech; Single transverse palmar crease; Gastroesophageal reflux; Gastrostomy tube feeding in infancy; Tetralogy of Fallot with absent pulmonary valve; Clinodactyly 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Arachnoid cyst; Delayed speech and language development; Compulsive behaviors; Somatic sensory dysfunction; Oppositional defiant disorder; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Atypical behavior; Abnormal facial shape; Myopia; Hypopigmentation of the skin; Mottled pigmentation; Intellectual disability; Infantile spasms; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Atypical behavior; Sleep disturbance; Abnormal facial shape; Delayed speech and language development; Synophrys; Thin upper lip vermilion; Agitation; Self-biting; Smooth philtrum 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Aggressive behavior; Axial hypotonia; Clinodactyly of the 5th finger; Delayed speech and language development; Strabismus; Severe global developmental delay 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Atypical behavior; Feeding difficulties; Oligohydramnios; Brachycephaly; Stereotypic movement disorder; Abnormal facial shape; Delayed speech and language development; Downslanted palpebral fissures; Feeding difficulties in infancy; Protruding ear; Short philtrum; Specific learning disability; Thin upper lip vermilion; Microcephaly; Prominent nasal bridge; Psychotic disorder; Inflexible adherence to routines; Brisk reflexes; Severe failure to thrive; Chronic diarrhea; Intention tremor; Poor speech; High, narrow palate; Tics; Abnormal emotional state; Anteverted ears; Attention deficit hyperactivity disorder; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Expressive language delay; Enuresis; Atypical behavior; Self-injurious behavior; Receptive language delay; Depression; Delayed gross motor development; Developmental regression; Delayed fine motor development 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Expressive language delay; Receptive language delay; Delayed speech and language development; Limited shoulder movement; Reduced social responsiveness 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Low-set ears; Anteverted nares; Depressed nasal bridge; Short nose; Macrocephaly; Long philtrum; Prominent forehead; Hypotonia 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Seizure; Hypotonia 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Self-injurious behavior; Intellectual disability 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Specific learning disability 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Brachycephaly; Delayed speech and language development; Open mouth; Recurrent bronchopulmonary infections; Protruding tongue; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Choreoathetosis; Dyskinesia; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Decreased total neutrophil count 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Dysarthria; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Eczematoid dermatitis; Delayed speech and language development; Mild intellectual disability 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Expressive language delay; Short stature; Enuresis; Feeding difficulties; Constipation; Receptive language delay; Tapered finger; Atrial septal defect, ostium secundum type; Clinodactyly of the 5th finger; Specific learning disability; Facial asymmetry; Increased red blood cell mass; Poor suck; Delayed skeletal maturation; Proportionate shortening of all digits; Abnormal facial skeleton morphology; Tics; Attention deficit hyperactivity disorder 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Expressive language delay; Short stature; Failure to thrive; Upslanted palpebral fissure; Feeding difficulties; Abnormal facial shape; Delayed speech and language development; Single transverse palmar crease; Thin upper lip vermilion; Long eyelashes; Hypoplastic toenails; Clinodactyly of the 5th toe; Decreased body weight; Persistent open anterior fontanelle; Relative macrocephaly; Prominent forehead 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Expressive language delay; Short stature; Microcephaly; Hypotonia; Asthma 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Failure to thrive; Autism with high cognitive abilities; Colorectal polyposis 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Failure to thrive; Micrognathia; Feeding difficulties; Growth delay; Aspiration; Microtia; High forehead; Incomplete partition of the cochlea type II; Abnormality of the larynx; Premature thelarche; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal semicircular canal morphology; Profound sensorineural hearing impairment 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Focal-onset seizure 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Growth delay; Oral motor hypotonia; Hypotonia 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the corpus callosum; Delayed speech and language development; Single transverse palmar crease; Drooling; Recurrent upper respiratory tract infections; Poor fine motor coordination; Floppy infant; Delayed fine motor development; Severe intellectual disability; Setting-sun eye phenomenon; Dilation of Virchow-Robin spaces; Widened subarachnoid space; Profound global developmental delay; Recurrent bronchiolitis; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Microcephaly; Cerebral white matter hypoplasia 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Infantile spasms 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Inguinal hernia; Spina bifida occulta; Abnormal facial shape; Delayed speech and language development 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Macrocephaly 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Autistic behavior; Feeding difficulties; Cafe-au-lait spot; Delayed speech and language development; Oppositional defiant disorder; Abnormal emotional state; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Autistic behavior; Seizure; Absent speech; Delayed speech and language development; Epileptic spasm 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Bilateral sensorineural hearing impairment; Delayed gross motor development 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Cerebral palsy; Axial hypotonia; Absent speech; Polymicrogyria; Delayed gross motor development; Tetraparesis; Abnormal periventricular white matter morphology; Diffuse white matter abnormalities; Infantile axial hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Delayed speech and language development 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Delayed speech and language development; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Microtia; Malar flattening; Abnormal facial shape; Delayed speech and language development; Round face; Short nose; Thickened nuchal skin fold 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Short stature; Failure to thrive; Febrile seizure (within the age range of 3 months to 6 years); Delayed speech and language development; Exotropia; Vesicoureteral reflux; Microcephaly; Thrombocytopenia 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Posteriorly rotated ears; Anemia; Tapered finger; Hemangioma; Clinodactyly of the 5th finger; Delayed speech and language development; Abnormality of the dentition; Macrocephaly; Bruising susceptibility; Gastroesophageal reflux; Allergy; Heart murmur; Hypotonia; Asthma 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Seizure 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Seizure; Atypical behavior; Delayed gross motor development; Speech articulation difficulties; Delayed fine motor development; Abnormal emotional state 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Seizure; Exotropia; Penile hypospadias; Split foot; Proximal tibial hypoplasia; Chronic sinusitis; Asthma 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Seizure; Microphthalmia; Reduced visual acuity 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Short stature; Failure to thrive; Growth delay; Microcephaly; Metatarsus adductus; Lower limb asymmetry; Tibial torsion 0 0 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Specific learning disability 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Specific learning disability; Somatic sensory dysfunction; Attention deficit hyperactivity disorder 0 1 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Tall stature; Macrocephaly; Generalized myoclonic seizure; Premature eruption of permanent teeth; Abnormal ventricular septum morphology; Ventricular septal defect 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Tall stature; Macrocephaly; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Global developmental delay; Upslanted palpebral fissure; Atypical behavior; Aggressive behavior; High palate; Pes planus; Abnormal facial shape; Delayed speech and language development; Autism with high cognitive abilities; Abnormal subcutaneous fat tissue distribution; Abnormal hair pattern; Prominent forehead; Attention deficit hyperactivity disorder 1 0 0 0 0 0 0 0 0 0 0 1
Glycogen storage disease, type II 1 0 0 0 0 0 0 0 0 0 0 1
Growth delay; Penile hypospadias; Urogenital tract malformation; Hypoplasia of penis; Mild global developmental delay; Abnormal scrotal rugation 0 0 1 0 0 0 0 0 0 0 0 1
Hearing loss, autosomal recessive 115 0 0 1 0 0 0 0 0 0 0 0 1
Heart, malformation of; Abnormality of the outer ear 0 0 1 0 0 0 0 0 0 0 0 1
Hemangioma; Macrocephaly; Prominent occiput; 3-5 finger syndactyly; Prominent forehead; Severe global developmental delay; Hypotonia 0 1 0 0 0 0 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 1 0 0 0 0 0 0 0 0 0 0 1
Hereditary spherocytosis type 2 1 0 0 0 0 0 0 0 0 0 0 1
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Hermansky-Pudlak syndrome 6 1 0 0 0 0 0 0 0 0 0 0 1
Hirsutism; Abnormal facial shape; Partial duplication of thumb phalanx; Severe intellectual disability; Clinodactyly 0 1 0 0 0 0 0 0 0 0 0 1
Holoprosencephaly 2 0 0 0 0 1 0 0 0 0 0 0 1
Holoprosencephaly 3 1 0 0 0 0 0 0 0 0 0 0 1
Holoprosencephaly 4 0 0 0 0 1 0 0 0 0 0 0 1
Holoprosencephaly 5 1 0 0 0 0 0 0 0 0 0 0 1
Hyperactivity; Short attention span; Delayed speech and language development; Specific learning disability; Reduced social responsiveness 0 0 1 0 0 0 0 0 0 0 0 1
Hypernasal speech; Abnormal pinna morphology; Macrocephaly; Underdeveloped nasal alae; Psychotic episodes; Large for gestational age; Sparse hair; Moderate global developmental delay; Abnormal circulating serine concentration; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 1 0 0 0 0 0 0 0 0 0 1
Hypertelorism; Autism with high cognitive abilities 0 0 1 0 0 0 0 0 0 0 0 1
Hypertelorism; Blepharophimosis; Micrognathia; Upslanted palpebral fissure; Proximal placement of thumb; Macrocephaly; Dolichocephaly; Ventriculomegaly; Mild global developmental delay 1 0 0 0 0 0 0 0 0 0 0 1
Hypertelorism; Global developmental delay; Autistic behavior; Micrognathia; Short phalanx of finger; Growth delay; Low-set ears; 2-3 toe syndactyly; Absent speech; Single transverse palmar crease; Short toe; Somatic sensory dysfunction; Bilateral conductive hearing impairment; Attention deficit hyperactivity disorder 1 0 0 0 0 0 0 0 0 0 0 1
Hypertelorism; Global developmental delay; Motor delay; Short chin; Low-set ears; Delayed speech and language development; Depressed nasal bridge; Frontal bossing; Triangular face; Reduced eye contact; Athetosis; Uncontrolled eye movements; Prominent forehead; Reduced social responsiveness; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Hypertelorism; Hyperhydroxyprolinemia; Enuresis; Sleep disturbance; Tall stature; Eczematoid dermatitis; Delayed speech and language development; Frontal bossing; Triangular face; Thin upper lip vermilion; Recurrent otitis media; Microdontia; Decreased total neutrophil count; Hypertriglyceridemia; Downturned corners of mouth; Increased blood urea nitrogen; Hypertyrosinemia; Somatic sensory dysfunction; Delayed fine motor development; Abnormal circulating serine family amino acid concentration; Bronchiolitis; Decreased total monocyte count; Abnormal emotional state; Encopresis; Asthma 0 0 1 0 0 0 0 0 0 0 0 1
Hypertelorism; Keloid formation; Inversion of nipple; Global developmental delay; Seizure; Feeding difficulties; Vomiting; EEG abnormality; Anteverted nares; Cafe-au-lait spot; Conductive hearing impairment; Decreased testicular size; Delayed speech and language development; Wide nasal bridge; Thin upper lip vermilion; Recurrent otitis media; Downturned corners of mouth; Clinodactyly of the 3rd toe; Finger clinodactyly; Small scrotum; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Hypertelorism; Kyphoscoliosis; Delayed speech and language development; Intellectual disability; Severe global developmental delay 0 0 1 0 0 0 0 0 0 0 0 1
Hypertelorism; Overgrowth; Brachycephaly; Hydrocephalus; Hand polydactyly; Intellectual disability; Basal cell carcinoma 1 0 0 0 0 0 0 0 0 0 0 1
Hypertelorism; Triphalangeal thumb; Global developmental delay; Motor delay; Low-set ears; Anteriorly placed anus; Broad forehead; Broad hallux; Delayed speech and language development; Frontal bossing; High forehead; Joint hypermobility; Bilateral triphalangeal thumbs; Finger syndactyly 0 0 1 0 0 0 0 0 0 0 0 1
Hypertelorism; Wide nose; Depressed nasal ridge 0 0 1 0 0 0 0 0 0 0 0 1
Hypogonadotropic hypogonadism 5 with or without anosmia 1 0 0 0 0 0 0 0 0 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia; Abnormality of the skeletal system; Anosmia; Intellectual disability 0 0 1 0 0 0 0 0 0 0 0 1
Hypoplastic left heart syndrome 0 1 0 0 0 0 0 0 0 0 0 1
Immunodeficiency 51 0 1 0 0 0 0 0 0 0 0 0 1
Insulin resistance; Bipolar affective disorder; Increased body weight; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 0 0 1
Intellectual disability, autosomal dominant 1 1 0 0 0 0 0 0 0 0 0 0 1
Intellectual disability, autosomal dominant 39; Chromosome 2p25.3 deletion syndrome 0 0 0 0 0 0 0 0 0 0 1 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 0 0 0 0 0 0 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 0 0 0 0 0 0 0 0 1 1
Intestinal malrotation 1 0 0 0 0 0 0 0 0 0 0 1
Inversion of nipple; Global developmental delay; Short stature; Failure to thrive; Abnormal facial shape; Agenesis of permanent teeth; Cafe-au-lait spot; Delayed speech and language development; Prominent nose; Numerous nevi; Decreased body weight; Attached earlobe; Prominent digit pad; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Irido-corneo-trabecular dysgenesis; Glaucoma; Seizure; Small face; Intellectual disability; Peripheral arterial stenosis; Severe global developmental delay; Unilateral microphthalmos 0 0 1 0 0 0 0 0 0 0 0 1
Isolated Pierre-Robin syndrome 0 0 1 0 0 0 0 0 0 0 0 1
Isolated Pierre-Robin syndrome; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Isolated growth hormone deficiency type IB 1 0 0 0 0 0 0 0 0 0 0 1
Joubert syndrome with renal defect 1 0 0 0 0 0 0 0 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 0 0 0 0 0 0 0 1
Kleefstra syndrome 2 0 0 0 1 0 0 0 0 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Lambdoidal craniosynostosis; Torticollis; Plagiocephaly; Atypical behavior; High palate; Exotropia; Specific learning disability; Triangular face; Mild conductive hearing impairment; Abnormal facial skeleton morphology; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 0 0 1
Large congenital melanocytic nevus; Obesity; Atypical behavior; Scoliosis; Abnormal facial shape; Hyperpigmentation of the skin; Neonatal hypotonia; Hypoplastic toenails; Short toe; Long foot; Poor suck; Increased intracranial pressure; Accelerated skeletal maturation 0 0 1 0 0 0 0 0 0 0 0 1
Legg-Calve-Perthes disease; Sensorineural hearing loss disorder; Incomplete partition of the cochlea type II; Juvenile rheumatoid arthritis; Telangiectasia of the skin 1 0 0 0 0 0 0 0 0 0 0 1
Leigh syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Leri-Weill dyschondrosteosis 1 0 0 0 0 0 0 0 0 0 0 1
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Levothyroxine response 0 0 0 0 0 0 0 0 1 0 0 1
Lymphoma, Hodgkin, Y-linked pseudoautosomal 0 1 0 0 0 0 0 0 0 0 0 1
Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 1 0 0 0 0 0 0 0 0 0 0 1
Male infertility; Oligospermia 0 0 1 0 0 0 0 0 0 0 0 1
Male infertility; Visual impairment; Upslanted palpebral fissure; Syndactyly; Microtia; Azoospermia; Abnormal facial shape; Delayed speech and language development; Facial asymmetry; Aphasia; Delayed fine motor development; Monocular strabismus; Varicocele; Attention deficit hyperactivity disorder; Oligospermia 0 0 1 0 0 0 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 0 0 0 0 1 1
Megalocornea; Scoliosis; Glaucoma of childhood; Ventricular septal defect 0 0 1 0 0 0 0 0 0 0 0 1
Microcephaly 16, primary, autosomal recessive 0 0 1 0 0 0 0 0 0 0 0 1
Microcephaly; Abnormal brain morphology 0 1 0 0 0 0 0 0 0 0 0 1
Micrognathia; Aggressive behavior; High palate; Deeply set eye; Micropenis; Prominent nasal bridge; Large hands; Large for gestational age; Mild global developmental delay; Short palpebral fissure 0 1 0 0 0 0 0 0 0 0 0 1
Micrognathia; Microtia 0 0 1 0 0 0 0 0 0 0 0 1
Mild intellectual disability 0 0 1 0 0 0 0 0 0 0 0 1
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 1 0 0 0 0 0 0 0 0 0 0 1
Mitochondrial DNA depletion syndrome 13 1 0 0 0 0 0 0 0 0 0 0 1
Mitochondrial DNA depletion syndrome 9 0 0 0 1 0 0 0 0 0 0 0 1
Monocytopenia with susceptibility to infections 0 0 0 0 0 0 0 0 0 0 1 1
Motor delay; Autistic behavior; Focal impaired awareness seizure; Febrile seizure (within the age range of 3 months to 6 years); Delayed speech and language development; Specific learning disability; Facial hypotonia; Drooling; Moderate intellectual disability; Dilation of Virchow-Robin spaces 0 0 1 0 0 0 0 0 0 0 0 1
Motor delay; Autistic behavior; Seizure; Delayed speech and language development; Mild global developmental delay; Encopresis 1 0 0 0 0 0 0 0 0 0 0 1
Motor delay; Enuresis; Upslanted palpebral fissure; Abnormal eyebrow morphology; Specific learning disability; Speech apraxia; Impaired visuospatial constructive cognition; Short palpebral fissure 0 0 1 0 0 0 0 0 0 0 0 1
Motor delay; Expressive language delay; Hyperactivity; Seizure; Aggressive behavior; Receptive language delay; Somatic sensory dysfunction; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Motor delay; Scoliosis; Downslanted palpebral fissures; Specific learning disability; Stenosis of the external auditory canal; Esophageal atresia/tracheoesophageal fistula; Bilateral conductive hearing impairment; Asymmetry of the mandible; Hypoplasia of the premaxilla; Increased overbite 1 0 0 0 0 0 0 0 0 0 0 1
Motor delay; Seizure; Nystagmus; Abnormal facial shape; Absent speech; Delayed speech and language development; Myopia; Penile hypospadias; Recurrent otitis media; Retinal coloboma; Abnormal periventricular white matter morphology; Mild conductive hearing impairment; Severe global developmental delay 0 0 1 0 0 0 0 0 0 0 0 1
Motor delay; Short attention span; Delayed speech and language development; Facial asymmetry; Mild intellectual disability; Few cafe-au-lait spots; Severe global developmental delay; Abducens nerve disorder; Abnormal emotional state 0 0 1 0 0 0 0 0 0 0 0 1
Motor delay; Sleep disturbance; Absent speech; Delayed speech and language development; Joint hypermobility; Severe intellectual disability; Abnormality of the gastrointestinal tract; EEG with temporal focal spikes; Stereotypical hand wringing 0 0 1 0 0 0 0 0 0 0 0 1
Motor delay; Spasticity; Microcephaly; Inability to walk 1 0 0 0 0 0 0 0 0 0 0 1
Mucolipidosis type II 1 0 0 0 0 0 0 0 0 0 0 1
Multicystic kidney dysplasia; Single umbilical artery; Ventriculomegaly; Cerebellar dysplasia 0 0 1 0 0 0 0 0 0 0 0 1
Multiple epiphyseal dysplasia type 4 1 0 0 0 0 0 0 0 0 0 0 1
Multiple epiphyseal dysplasia type 5; Spondyloepimetaphyseal dysplasia, matrilin-3 type; Osteoarthritis susceptibility 2 0 0 1 0 0 0 0 0 0 0 0 1
Muscular dystrophy; Seizure; Short chin; Feeding difficulties; High palate; Constipation; Eczematoid dermatitis; Hip dislocation; Abnormal facial shape; Anteverted nares; Downslanted palpebral fissures; Protruding ear; Specific learning disability; Sparse and thin eyebrow; Congenital diaphragmatic hernia; Talipes; Tachypnea; Abnormality of mouth shape; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 0 0 0 0 0 0 0 0 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 0 0 0 0 0 0 0 0 0 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 1 0 0 0 0 0 0 0 0 1
Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 0 0 0 0 1 0 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 0 0 0 0 1 1
Noonan syndrome 8 0 0 1 0 0 0 0 0 0 0 0 1
Obesity; Global developmental delay; Abnormal facial shape 0 1 0 0 0 0 0 0 0 0 0 1
Obesity; Global developmental delay; Atypical behavior; Abnormal facial shape; Skin rash; Pustule; Attention deficit hyperactivity disorder; Erythematous papule 0 0 1 0 0 0 0 0 0 0 0 1
Obesity; Global developmental delay; Motor delay; Feeding difficulties; Polyhydramnios; Delayed speech and language development; Short philtrum; Neonatal hypotonia; Downturned corners of mouth; Acromesomelia; Lipedema 1 0 0 0 0 0 0 0 0 0 0 1
Obesity; Global developmental delay; Seizure; Short stature; Genu valgum; Deeply set eye; Dysarthria; Delayed speech and language development; Specific learning disability; Broad face; Prominent nasal bridge; Strabismus; Diastema; Swan neck-like deformities of the fingers; Metatarsus valgus; Increased overbite 1 0 0 0 0 0 0 0 0 0 0 1
Obesity; Motor delay; Autistic behavior; Atypical behavior; Delayed speech and language development; Compulsive behaviors 0 1 0 0 0 0 0 0 0 0 0 1
Obesity; Motor delay; Self-injurious behavior; Sleep disturbance; Depression; Overgrowth; Delayed speech and language development; Macrocephaly; Emotional lability; Agitation; Anxiety; Sleep apnea; Mild global developmental delay 1 0 0 0 0 0 0 0 0 0 0 1
Obesity; Motor delay; Short stature; Upslanted palpebral fissure; Frequent falls; Delayed speech and language development; Thin upper lip vermilion; Mild intellectual disability; Bilateral tonic-clonic seizure; Generalized myoclonic seizure; Clumsiness; Developmental regression; Unilateral ptosis; High myopia; Interictal epileptiform activity; Camptodactyly of finger 0 0 1 0 0 0 0 0 0 0 0 1
Obesity; Tetralogy of Fallot; Short stature; Abnormal cardiovascular system morphology; Abnormal facial shape; Intellectual disability 0 0 1 0 0 0 0 0 0 0 0 1
Oligomenorrhea; Aplasia/Hypoplasia of the breasts 0 0 1 0 0 0 0 0 0 0 0 1
Orofacial cleft; Azoospermia; Testicular atrophy 1 0 0 0 0 0 0 0 0 0 0 1
Orofacial cleft; Feeding difficulties in infancy; Nasolacrimal duct obstruction 0 0 1 0 0 0 0 0 0 0 0 1
Ovarian neoplasm 0 1 1 0 0 0 0 0 0 0 0 1
Overgrowth; Decreased testicular size; Pneumothorax; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 0 0 1
Partial agenesis of the corpus callosum; Ventriculomegaly 0 1 0 0 0 0 0 0 0 0 0 1
Partial duplication of the long arm of chromosome 4 1 0 0 0 0 0 0 0 0 0 0 1
Patent ductus arteriosus 3 0 0 0 1 0 0 0 0 0 0 0 1
Patent foramen ovale; Abnormal facial shape; Patent ductus arteriosus 0 1 0 0 0 0 0 0 0 0 0 1
Paternal uniparental disomy of chromosome 14 1 0 0 0 0 0 0 0 0 0 0 1
Pectus excavatum; Global developmental delay; Failure to thrive; Hearing impairment; Hypoglycemia; Optic nerve hypoplasia; Absent speech; Abnormality of the dentition; Carious teeth; Intellectual disability; Ventriculomegaly; Inability to walk; High myopia; Gastrostomy tube feeding in infancy; Cleft palate 1 0 0 0 0 0 0 0 0 0 0 1
Pectus excavatum; Global developmental delay; Hemangioma; Synophrys; Narrow mouth; Dolichocephaly; Long eyelashes; Joint hypermobility; Frontal upsweep of hair; Narrow naris; Sydney crease; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Pectus excavatum; Global developmental delay; Retrognathia; Hallux valgus; Scoliosis; Arachnodactyly; Downslanted palpebral fissures; Narrow face; Long face; Cutis marmorata; Short metatarsal 0 0 1 0 0 0 0 0 0 0 0 1
Pectus excavatum; High palate; Absent speech; Partial agenesis of the corpus callosum; Microcephaly; Inability to walk; Shortening of all distal phalanges of the fingers; Lower limb hypertonia; Hypoplasia of the frontal lobes; Hypoplasia of the premaxilla; Severe intellectual disability; Upper limb hypertonia 0 1 0 0 0 0 0 0 0 0 0 1
Pelvic kidney; Severe intrauterine growth retardation; Abnormal renal morphology 0 1 0 0 0 0 0 0 0 0 0 1
Phelan-McDermid syndrome 0 0 1 0 0 0 0 0 0 0 0 1
Plagiocephaly; Global developmental delay; Pyloric stenosis; Penile hypospadias; Vesicoureteral reflux; Megacolon; Ventricular septal defect 0 0 1 0 0 0 0 0 0 0 0 1
Plagiocephaly; Hearing impairment; Cognitive impairment 0 0 1 0 0 0 0 0 0 0 0 1
Polydactyly; Retrognathia; Abnormal mandible morphology 0 0 1 0 0 0 0 0 0 0 0 1
Poor coordination; Autistic behavior; Failure to thrive; Specific learning disability; Microcephaly; Hearing abnormality; Generalized hypotonia; Joint hypermobility; Pes cavus; Congenital finger flexion contractures; Mild global developmental delay; Oral motor hypotonia; Attention deficit hyperactivity disorder; Peripheral neuropathy 1 0 0 0 0 0 0 0 0 0 0 1
Premature ovarian insufficiency; Endometriosis 0 0 1 0 0 0 0 0 0 0 0 1
Primary ciliary dyskinesia 30 0 1 0 0 0 0 0 0 0 0 0 1
Pulmonic stenosis; Atrial septal defect; Autistic behavior; Aggressive behavior; Constipation; Aspiration; Coarse facial features; Delayed speech and language development; Emotional lability; Dry skin; Thickened skin; Severe global developmental delay; Asthma 1 0 0 0 0 0 0 0 0 0 0 1
Pulmonic stenosis; Isolated Pierre-Robin syndrome; Tapered finger; Tricuspid regurgitation; Abnormal facial shape; Overlapping toe; Ovarian cyst; Calcaneovalgus deformity; Abnormal muscle tone; Short metatarsal; Left-to-right shunt; Short palpebral fissure; Blue nevus; Cleft palate; Patent ductus arteriosus 1 0 0 0 0 0 0 0 0 0 0 1
RNVU1-22-associated neurodevelopmental disorder 0 0 1 0 0 0 0 0 0 0 0 1
Retinoblastoma 1 0 0 0 0 0 0 0 0 0 0 1
Rieger anomaly; Global developmental delay 0 1 0 0 0 0 0 0 0 0 0 1
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 1 0 0 0 0 0 0 0 0 0 0 1
SHOX-related short stature 1 0 0 0 0 0 0 0 0 0 0 1
SLC25A18-related disorder 0 0 1 0 0 0 0 0 0 0 0 1
Scoliosis; Pulmonary hypoplasia; Labial hypoplasia; Congenital diaphragmatic hernia; Bicornuate uterus; Cutis laxa; Small thenar eminence; Olfactory lobe agenesis; Abnormal abdominal wall morphology; Thoracic hypoplasia; Clinodactyly; Camptodactyly 0 0 1 0 0 0 0 0 0 0 0 1
Seizure; Abnormal facial shape; Involuntary movements; Ventricular septal defect 0 0 1 0 0 0 0 0 0 0 0 1
Seizure; Absent speech; Blindness; Inability to walk; Severe global developmental delay 0 1 0 0 0 0 0 0 0 0 0 1
Seizure; Hyperthyroidism; Abnormal pinna morphology; Convex nasal ridge; Delayed speech and language development; Short philtrum; Dolichocephaly; Long face; Broad nasal tip; Strabismus; Severe global developmental delay; Hypotonia 1 0 0 0 0 0 0 0 0 0 0 1
Seizure; Self-injurious behavior; Partial agenesis of the corpus callosum; Interictal epileptiform activity; Severe global developmental delay; Delayed myelination 0 0 1 0 0 0 0 0 0 0 0 1
Seizure; Short stature; Failure to thrive; Compulsive behaviors; Oppositional defiant disorder; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 0 0 1
Seizure; Spasticity; Absent speech; Microcephaly; Inability to walk; Profound static encephalopathy 0 0 1 0 0 0 0 0 0 0 0 1
Seizure; Specific learning disability 0 0 1 0 0 0 0 0 0 0 0 1
Sensorineural hearing loss disorder; Seizure; Intellectual disability; Hypotonia 0 1 0 0 0 0 0 0 0 0 0 1
Sensorineural hearing loss disorder; Sleep disturbance; Chronic otitis media; Chronic diarrhea; Episodic abdominal pain; Abnormal dental morphology; Facial palsy; Cementoma; Ossifying fibroma of the jaw 0 0 1 0 0 0 0 0 0 0 0 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 0 1 0 0 0 0 0 0 0 0 0 1
Severe short stature 0 0 1 0 0 0 0 0 0 0 0 1
Short chin; Aplasia of the nose; Midface retrusion 0 0 1 0 0 0 0 0 0 0 0 1
Short stature 1 0 0 0 0 0 0 0 0 0 0 1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 1 0 1 0 0 0 0 0 0 0 0 1
Short stature; Abnormality of prenatal development or birth 0 0 1 0 0 0 0 0 0 0 0 1
Short stature; Decreased body weight 0 0 1 0 0 0 0 0 0 0 0 1
Short stature; Delayed puberty 0 0 1 0 0 0 0 0 0 0 0 1
Short stature; Delayed skeletal maturation 0 0 1 0 0 0 0 0 0 0 0 1
Short stature; Growth delay; Abnormal facial shape; Microcephaly; Intellectual disability; Decreased body weight; Abnormal digit morphology; Heart murmur 0 0 1 0 0 0 0 0 0 0 0 1
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 0 0 1 0 0 0 0 0 0 0 0 1
Sinoatrial node dysfunction and deafness 0 0 1 0 0 0 0 0 0 0 0 1
Slurred speech 0 1 0 0 0 0 0 0 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia 0 1 0 0 0 0 0 0 0 0 0 1
Speech apraxia 0 0 1 0 0 0 0 0 0 0 0 1
Spinal muscular atrophy 1 0 0 0 0 0 0 0 0 0 0 1
Sudden infant death-dysgenesis of the testes syndrome 0 1 0 0 0 0 0 0 0 0 0 1
Syndromic microphthalmia 1 0 0 0 0 0 0 0 0 0 0 1
Tall stature; Intellectual disability; Hypotonia 0 0 1 0 0 0 0 0 0 0 0 1
Telecanthus; Global developmental delay; Malar flattening; Specific learning disability 0 0 1 0 0 0 0 0 0 0 0 1
Thrombophilia 0 0 1 0 0 0 0 0 0 0 0 1
Thymoma 0 0 0 0 0 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 0 0 0 0 1 1
Turner syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Tyrosinase-positive oculocutaneous albinism 0 1 0 0 0 0 0 0 0 0 0 1
Velopharyngeal insufficiency; Pulmonary hypoplasia; Epistaxis; Hypernasal speech; Speech apraxia; Recurrent otitis media; Autism with high cognitive abilities; Abnormality of the respiratory system; Bilateral lung agenesis; Asthma 0 0 1 0 0 0 0 0 0 0 0 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 0 1 0 0 0 0 0 0 0 0 0 1
XG BLOOD GROUP SYSTEM, Xg(a-) PHENOTYPE 1 0 0 0 0 0 0 0 0 0 0 1
alpha Thalassemia 1 0 0 0 0 0 0 0 0 0 0 1
mTOR Inhibitor response 0 0 0 0 0 0 0 0 1 0 0 1
methamphetamine use disorder 0 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 171
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found drug response other not provided total
ISCA site 19 321 0 2732 233 1157 0 0 0 0 0 0 4442
Quest Diagnostics Nichols Institute San Juan Capistrano 28 1 259 97 1 0 0 0 0 0 0 386
Ambry Genetics 0 0 338 19 0 0 0 0 0 0 0 356
GeneDx 6 0 15 31 242 0 0 0 0 0 0 294
ISCA site 1 50 15 142 73 3 0 0 0 0 0 0 283
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 66 48 132 0 0 0 0 0 0 0 0 246
CeGaT Center for Human Genetics Tuebingen 1 3 12 165 4 0 0 0 0 0 0 185
ISCA Site 6 3 0 1 35 105 0 0 0 0 0 0 144
ISCA site 4 2 0 4 107 23 0 0 0 0 0 0 136
Bionano Laboratories 1 0 106 0 0 0 0 0 0 0 0 107
Breakthrough Genomics, Breakthrough Genomics 0 0 33 42 26 0 0 0 0 0 0 101
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 0 0 0 0 101 101
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 0 0 0 0 94 0 94
Department of Pathology and Laboratory Medicine, Sinai Health System 6 9 28 5 3 0 0 0 0 0 0 51
ISCA site 7 0 0 0 0 45 0 0 0 0 0 0 45
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 44 0 0 0 0 0 0 44
Natera, Inc. 3 41 0 0 0 0 0 0 0 0 0 44
Clinical Genetics, Erasmus University Medical Center 0 0 8 21 5 0 0 0 0 0 0 34
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 6 1 26 0 0 0 0 0 0 0 0 33
GeneReviews 25 0 0 0 3 0 0 0 0 0 4 32
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 0 30 0 0 0 0 0 0 30
Labcorp Genetics (formerly Invitae), Labcorp 2 1 2 2 19 0 0 0 0 0 0 26
Leiden Open Variation Database 24 0 0 0 0 0 0 0 0 0 0 24
Liping Wei Laboratory, Peking University 10 13 0 0 0 0 0 0 0 0 0 23
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 0 3 17 2 0 0 0 0 0 0 0 22
MVZ Martinsried, Medicover Genetics 15 1 2 0 0 0 0 0 0 0 0 18
ISCA site 8 0 0 1 0 15 0 0 0 0 0 0 16
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 16 0 0 0 0 0 0 16
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 13 13
ISCA site 2 0 0 2 0 10 0 0 0 0 0 0 12
Revvity Omics, Revvity 2 4 6 0 0 0 0 0 0 0 0 11
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 10 0 0 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 3 0 0 0 0 0 0 0 0 0 9
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 0 0 0 0 8 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 3 1 0 0 0 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 0 0 7 0 0 0 0 0 0 0 0 7
Medical Genetics Laboratories, Baylor College of Medicine 7 0 0 0 0 0 0 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 2 0 0 0 0 0 0 6
ClinVar Staff, National Center for Biotechnology Information (NCBI) 5 0 0 0 0 0 0 0 0 0 1 6
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 0 6 0 0 0 0 0 0 0 0 6
Genesis Genomics 6 0 0 0 0 0 0 0 0 0 0 6
Illumina Laboratory Services, Illumina 1 0 5 0 0 0 0 0 0 0 0 6
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 6 0 0 0 0 0 0 0 0 6
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 3 3 0 0 0 0 0 0 0 6
Colorectal Cancer Research Lab, Singapore General Hospital 2 0 0 0 0 0 3 0 0 0 0 5
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 0 0 0 0 5 5
ISCA site 17 0 0 1 0 4 0 0 0 0 0 0 5
Paris Brain Institute, Inserm - ICM 4 0 1 0 0 0 0 0 0 0 0 5
Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital 0 0 5 0 0 0 0 0 0 0 0 5
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 0 0 4 0 0 0 0 0 0 0 0 4
Cytogenetics Laboratory, University of Washington 0 0 0 1 3 0 0 0 0 0 0 4
Cytogenetics, Genetics Associates, Inc. 1 0 3 0 0 0 0 0 0 0 0 4
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 0 0 0 4 4
ISCA site 3 3 0 0 1 0 0 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 2 0 0 0 0 0 0 4
Mendelics 0 0 0 0 4 0 0 0 0 0 0 4
Institute of Human Genetics, Polish Academy of Sciences 0 0 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 0 0 0 0 0 3
Pediatrics, Sichuan Provincial Hospital For Women And Children 3 0 0 0 0 0 0 0 0 0 0 3
UF de génétique clinique, APHP Hôpital Armand Trousseau 0 3 0 0 0 0 0 0 0 0 0 3
Breast Cancer Information Core (BIC) (BRCA1) 0 0 2 0 0 0 0 0 0 0 0 2
Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital 0 0 0 0 0 0 0 0 2 0 0 2
Department of Endocrinology, The Second Hospital of Jilin University 2 0 0 0 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 0 0 0 0 0 2
Department of Orthopeadics and Traumatology, Nanfang Hospital 0 0 0 0 0 0 2 0 0 0 0 2
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 0 2 0 0 0 0 0 0 0 2
Elsea Lab, Dept of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 0 0 0 0 1 2
Genomics Division, Defence Institute of Physiology and Allied Sciences 0 0 0 0 0 1 0 1 0 0 0 2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 0 2 0 0 0 0 2
Harris Lab, University of Minnesota 0 0 0 0 0 0 0 0 0 0 2 2
Human Developmental Genetics, Institut Pasteur 2 0 0 0 0 0 0 0 0 0 0 2
ISCA site 14 0 0 2 0 0 0 0 0 0 0 0 2
Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University 0 0 2 0 0 0 0 0 0 0 0 2
Mayo Clinic Genomics Laboratory, Mayo Clinic 2 0 0 0 0 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 0 0 0 2
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 2 0 0 0 0 0 0 0 0 2
OMIM 2 0 0 0 0 0 0 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 1 0 0 0 0 0 0 2
Smedley Team, Phenogenomics Group, Queen Mary University of London 0 2 0 0 0 0 0 0 0 0 0 2
3billion 0 0 0 1 0 0 0 0 0 0 0 1
Abrahams Lab, Albert Einstein College of Medicine 0 1 0 0 0 0 0 0 0 0 0 1
Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia 1 0 0 0 0 0 0 0 0 0 0 1
Athena Diagnostics 0 0 0 0 1 0 0 0 0 0 0 1
Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology 0 0 1 0 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 0 0 0 0 0 1
Center for Advanced Diagnostics, Brigham and Women's Hospital 0 0 1 0 0 0 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 0 0 0 1
Chan Lab, Boston Children's Hospital 0 1 0 0 0 0 0 0 0 0 0 1
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 1 1 0 0 0 0 0 0 0 0 0 1
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 1 1 0 0 0 0 0 0 0 0 0 1
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen 0 1 0 0 0 0 0 0 0 0 0 1
ClinGen Monogenic Diabetes Variant Curation Expert Panel 0 0 1 0 0 0 0 0 0 0 0 1
ClinGen Myeloid Malignancy Variant Curation Expert Panel 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Branch, National Institutes of Health 0 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Center, Tokyo Medical University Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 0 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 0 0 0 0 0 1
Cytogenetics & Genomics Research Unit, University of Calcutta 0 1 0 0 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 1 0 0 0 0 0 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, CHU Clermont-Ferrand 0 1 0 0 0 0 0 0 0 0 0 1
Department of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 0 0 0 0 0 1
Department of Zoology Govt. MVM College 0 1 0 0 0 0 0 0 0 0 0 1
Diasio Lab, Mayo Clinic 0 0 0 0 0 0 0 0 0 0 1 1
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 0 0 0 1 0 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Dr. Orhan Ocalgiray Molecular Biology-Biotechnology and Genetics Research Centre (MOBGAM), Istanbul Technical University 0 0 1 0 0 0 0 0 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 1 0 0 0 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 1 0 0 0 0 0 0 1
Functional Genomics, Thrombosis Research Institute, India 0 0 0 0 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 1 0 0 0 0 0 0 0 0 1
Genetics - Synnovis, NHS South East Genomic Laboratory Hub 1 0 0 0 0 0 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 0 0 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 0 0 1 0 0 0 0 0 0 0 0 1
Genetics Laboratory, The Affiliated Women's and Children's Hospital of Qingdao University 1 0 0 0 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 1 0 0 0 0 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 0 0 0 1
Geschwind lab, University of California Los Angeles 1 1 1 0 0 0 0 0 0 0 0 1
H3Africa Consortium 0 0 0 0 1 0 0 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 0 0 0 1
ISCA site 15 0 0 1 0 0 0 0 0 0 0 0 1
ITMI 0 0 0 0 0 0 0 0 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 0 0 0 0 1
Institute for Human Genetics, University Hospital Essen 0 0 1 0 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 0 0 0 1
Keimyung University Dongsan Hospital, Keimyung University School of Medicine 0 1 0 0 0 0 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 0 0 0 0 0 1
Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston 0 1 0 0 0 0 0 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 1 0 0 0 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Aldo Moro University of Bari 1 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 0 0 0 1 0 0 0 0 0 0 0 1
Michaelson Lab, University of Iowa 0 0 1 0 0 0 0 0 0 0 0 1
Molecular Biology (Zoology) Lab, University of Education, Lahore 0 0 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 0 0 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 0 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 1 0 0 0 0 0 0 0 0 0 0 1
Obstetrics and Gynecology, Juntendo university 1 0 0 0 0 0 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 0 1 0 0 0 0 0 0 0 0 1
Ophthalmic Genetics and Bioinformatics Laboratory, Shanghai Puxi and Light Genomics Technology Co., Ltd. 0 1 0 0 0 0 0 0 0 0 0 1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 0 0 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 0 0 0 0 0 1
Pediatric Cardiac ICU, King Abdulaziz Medical City, National Guard Health Affairs 1 0 0 0 0 0 0 0 0 0 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 0 0 0 0 0 1
Pharmacogenomics/Precision medicine lab, University of Petra 0 0 0 0 0 0 0 0 1 0 0 1
School of Life Sciences, Central South University 1 0 0 0 0 0 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 0 0 0 0 0 0 0 0 0 1
UW Hindbrain Malformation Research Program, University of Washington 1 0 0 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 0 0 0 0 1
dbVar 1 0 0 0 0 0 0 0 0 0 0 1

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