ClinVar Miner

Variants from CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles

Location: United States — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 total
44 28 71 5 0 148

Gene and significance breakdown #

Total genes and gene combinations: 123
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
ABCA3 0 2 1 0 3
DCHS1 0 0 2 1 3
LOC102724058, SCN1A 2 0 0 1 3
RYR1 0 0 3 0 3
ADAR 0 0 2 0 2
ALPL 2 0 0 0 2
CACNA1A 0 0 2 0 2
COL1A1 1 1 0 0 2
FAT4 0 0 1 1 2
HYDIN 0 1 1 0 2
MEFV 1 0 1 0 2
NEK1 0 0 2 0 2
OBSL1 0 0 2 0 2
QARS 0 2 0 0 2
STAT1 2 0 0 0 2
SZT2 0 2 0 0 2
TMCO1 1 1 0 0 2
TNFRSF13B 0 0 2 0 2
TP53 2 0 0 0 2
USP7 0 0 2 0 2
XDH 0 0 2 0 2
AHI1 0 0 1 0 1
ALG13 0 1 0 0 1
AP1B1 0 0 1 0 1
ARFGEF1, CSPP1 0 0 1 0 1
ARID1B 1 0 0 0 1
ATRX 1 0 0 0 1
BCL11A 0 1 0 0 1
BCORL1 0 0 1 0 1
BMPR2 0 0 1 0 1
BPTF 1 0 0 0 1
BRCA2 1 0 0 0 1
C2CD3 0 0 1 0 1
CASR 0 0 1 0 1
CCDC65 1 0 0 0 1
CEL 0 0 1 0 1
CHEK2 1 0 0 0 1
CHN1 0 1 0 0 1
CIITA 0 0 1 0 1
CLCN2 0 0 1 0 1
COL17A1 1 0 0 0 1
COL2A1 1 0 0 0 1
COL5A2 0 0 1 0 1
COL6A2 0 0 1 0 1
COL6A3 0 0 1 0 1
CPT2 1 0 0 0 1
CREBBP 0 1 0 0 1
DCC 0 1 0 0 1
DEPDC5 0 0 1 0 1
DES 0 0 1 0 1
DNAH11 0 0 1 0 1
DNAH5 0 0 1 0 1
DNAJC21 1 0 0 0 1
DNMT1 0 0 1 0 1
DPYD 1 0 0 0 1
DYNC2H1 0 0 1 0 1
EIF2B5 1 0 0 0 1
ERF 0 0 1 0 1
FAM111B 0 1 0 0 1
FGF14 0 1 0 0 1
FKBP10 1 0 0 0 1
FLNA 0 0 1 0 1
FOXN1 0 1 0 0 1
FOXP2 0 0 1 0 1
FOXP3 1 0 0 0 1
GABRB3 0 0 1 0 1
GATA4 0 0 1 0 1
GJB2 0 1 0 0 1
GNS 0 0 1 0 1
GRIN1 0 1 0 0 1
HERC2 0 0 1 0 1
IDS 0 0 1 0 1
IGHMBP2 1 0 0 0 1
INPP5E 1 0 0 0 1
JAK3 0 0 1 0 1
KCNQ1 0 1 0 0 1
KIF1A 0 0 1 0 1
LDLR 1 0 0 0 1
LOC102723833, USH2A 0 0 1 0 1
MED25 0 0 1 0 1
MEN1 0 0 1 0 1
MLH1 0 0 1 0 1
MTM1 1 0 0 0 1
MYH7 0 1 0 0 1
MYH8, MYHAS 0 0 1 0 1
MYLK 0 0 1 0 1
MYO15A 0 0 0 1 1
MYOC 0 1 0 0 1
NF1 1 0 0 0 1
NR2F1 0 0 1 0 1
NSD1 1 0 0 0 1
PACS1 1 0 0 0 1
PAX8 0 0 1 0 1
PCDH19 0 0 1 0 1
PGAP3 1 0 0 0 1
PIK3R2 0 0 1 0 1
PKHD1 1 0 0 0 1
PLAA 0 1 0 0 1
PMS2 1 0 0 0 1
POLG 0 0 1 0 1
PPP2R1A 1 0 0 0 1
PTEN 1 0 0 0 1
RAC2 0 1 0 0 1
RAG2 0 1 0 0 1
RPS26 1 0 0 0 1
SCN5A 0 0 1 0 1
SCNN1A 0 0 1 0 1
SF3B4 1 0 0 0 1
SFTPC 0 1 0 0 1
SLC12A1 0 0 1 0 1
SLC9A6 0 1 0 0 1
SMARCB1 1 0 0 0 1
SOX3 0 0 1 0 1
SYNE2 0 0 1 0 1
TCOF1 1 0 0 0 1
TNNT3 0 0 1 0 1
TRH 0 0 1 0 1
TRPM4 0 0 0 1 1
TTN 0 1 0 0 1
TTR 1 0 0 0 1
USH2A 1 0 0 0 1
VANGL1 0 0 1 0 1
WFS1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 92
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Cryptorchidism; Global developmental delay; Seizures; Abnormality of the anterior fontanelle; Macrocephalus; Deep plantar creases; Abnormality of the cerebral white matter; Central hypotonia 1 2 1 0 4
Clinodactyly of the 5th finger; Anomalous origin of coronary artery from the pulmonary artery; Cough 1 0 2 0 3
Colitis; Inflammation of the large intestine; Hematochezia; Thrombocytopenia 1 0 2 0 3
Dandy-Walker syndrome; Laryngomalacia; Sensorineural hearing loss; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Nyctalopia; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Duane anomaly; Small hand; Cleft palate 1 1 1 0 3
Failure to thrive; Sensory neuropathy; Generalized hypotonia; Broad-based gait; Sensory ataxic neuropathy; Decreased body weight; Impaired distal proprioception; Sensory ataxia 0 0 3 0 3
Global developmental delay; Abnormality of the corpus callosum; Hypoplasia of the corpus callosum; Delayed speech and language development; Hypopigmented skin patches; Generalized hypotonia; Neonatal hypotonia; Joint hypermobility; Relative macrocephaly; Periventricular gray matter heterotopia; Abnormality of the renal pelvis 0 0 2 1 3
Global developmental delay; Seizures; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate 1 0 1 1 3
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 2 0 1 0 3
Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress 0 2 1 0 3
Severe combined immunodeficiency disease; Immunodeficiency; Lymphopenia; Abnormality of cellular immune system; Abnormality of T cell physiology; Combined immunodeficiency 0 3 0 0 3
Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormality of upper limb bone 1 0 2 0 3
Skeletal dysplasia 3 0 0 0 3
Talipes equinovarus; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Interstitial pulmonary abnormality; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus 1 0 2 0 3
Tongue tie; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect 0 0 3 0 3
Anemia; Pancytopenia; Pneumonia; Bone marrow hypocellularity 2 0 0 0 2
Aortic dissection; Carotid artery dissection; Internal carotid artery dissection; Carotid artery occlusion; Stroke 1 0 1 0 2
Ascites; Pleural effusion; Wide intermamillary distance; Right ventricular hypertrophy; Low-set nipples; Chylothorax; Hydrops fetalis 0 0 1 1 2
Atrial septal defect; High palate; Frontal bossing; Thin upper lip vermilion; Pectus carinatum; Generalized hypotonia; Joint laxity; Abnormality of the cerebral white matter; Downturned corners of mouth; Cerebral white matter atrophy 0 1 1 0 2
Atrial septal defect; Hydronephrosis; Pulmonary hypoplasia; Respiratory failure; Abdominal distention; Gastrointestinal obstruction; Respiratory failure requiring assisted ventilation; Intestinal obstruction; Interstitial pulmonary abnormality; Congenital microcephaly; Ventricular septal defect 0 0 2 0 2
Autistic disorder of childhood onset; Cryptorchidism; Hypertelorism; Cleft uvula; Seizures; Cognitive impairment; Scoliosis; Patent foramen ovale; Prominent supraorbital ridges; Hypermetropia; Disproportionate tall stature; Pectus carinatum; Highly arched eyebrow; Overfolding of the superior helices; Talipes valgus; Chronic lung disease; Midface retrusion; Cleft palate 1 1 0 0 2
Autistic disorder of childhood onset; Cryptorchidism; Pulmonic stenosis; Sensorineural hearing loss; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormality of the sternum; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severe visual impairment; Relative macrocephaly; Bilateral cleft lip; Cleft palate 1 0 1 0 2
Autistic disorder of childhood onset; Macroglossia; Global developmental delay; Seizures; Hallux valgus; Cognitive impairment; Aggressive behavior; Coarse facial features; Mandibular prognathia; 2-3 toe syndactyly; Bulbous nose; Frontal bossing; Thick lower lip vermilion; Widely spaced teeth; Intellectual disability; Short toe; Clinodactyly of the 5th toe; Intellectual disability, profound; Abnormal aggressive, impulsive or violent behavior; Slit-like opening of the exterior auditory meatus; Shortening of all phalanges of fingers; Profound global developmental delay 1 0 1 0 2
Bone marrow hypocellularity 1 1 0 0 2
Brachydactyly; Autistic behavior; Stereotypy; Abnormal facial shape; Synophrys; Microcephaly; Impaired use of nonverbal behaviors; Generalized hypotonia; Profound global developmental delay 2 0 0 0 2
Cleft upper lip; Cognitive impairment; Median cleft lip; Bifid ribs; Asymmetry of the thorax; Periventricular leukomalacia; Cleft palate 0 1 1 0 2
Elevated serum creatine phosphokinase; Dystonia; Global developmental delay; Abnormality of female external genitalia; Oculomotor apraxia; Orofacial dyskinesia; Abnormality of the globus pallidus; Involuntary movements; Hypoplastic female external genitalia; Rhabdomyolysis 0 0 2 0 2
Failure to thrive; Cognitive impairment; Hypothyroidism; Chronic diarrhea; Combined immunodeficiency; Bronchiectasis 1 0 1 0 2
Global developmental delay; Choreoathetosis; Aqueductal stenosis 0 0 2 0 2
Global developmental delay; Oculomotor apraxia; Generalized hypotonia; Cerebellar vermis hypoplasia; Relative macrocephaly; Congenital ptosis 0 0 2 0 2
Global developmental delay; Seizures; Brachycephaly; Generalized hypotonia; Chorea 0 0 2 0 2
Immunodeficiency; Lymphopenia; Cor triatriatum dexter; Cough 0 0 2 0 2
Insomnia; Seizures; Heterotopia; Cortical visual impairment; Hypoplasia of the corpus callosum; Microcephaly; Strabismus; Impaired use of nonverbal behaviors; Short foot; Profound global developmental delay; Small hand 0 2 0 0 2
Leukodystrophy; Dystonia; Developmental regression; Abnormality of the cerebral white matter 1 0 1 0 2
Macrocephalus; Delayed eruption of primary teeth; Generalized hypotonia; Complete duplication of proximal phalanx of the thumb; Moderate global developmental delay; Central hypotonia 0 0 2 0 2
Muscle weakness; Spasticity; Hypertonia; Neurogenic bladder; Spastic gait; Abnormality of the cerebral white matter; Cerebral venous thrombosis; Bone marrow hypocellularity; Myelitis; Abnormal thalamic MRI signal intensity; Abnormal brainstem MRI signal intensity; Combined immunodeficiency 0 0 2 0 2
Muscular Diseases; Respiratory distress; Proximal muscle weakness; Pulmonary alveolar proteinosis; Generalized hypotonia; Neonatal hypotonia; Restrictive ventilatory defect; Neonatal respiratory distress; Respiratory insufficiency due to muscle weakness; Skeletal myopathy; Interstitial pulmonary abnormality; Congenital peripheral neuropathy; Proximal muscle weakness in upper limbs; Infantile axial hypotonia 0 1 1 0 2
Obstructive sleep apnea syndrome; Obesity; Cardiomyopathy; Glaucoma; Muscle weakness; Specific learning disability; Panhypopituitarism; Generalized hypotonia; Gastroesophageal reflux; Limb-girdle muscle weakness 0 0 2 0 2
Plagiocephaly; Global developmental delay; Visual impairment; Cortical visual impairment; Generalized hypotonia; Hypsarrhythmia; Postnatal microcephaly; Posterior plagiocephaly; Epileptic encephalopathy; Infantile spasms; Mild microcephaly 0 0 1 1 2
Polyhydramnios; High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Toe clinodactyly; Abnormality of the cerebral white matter; Abnormality of the nares; Postnatal microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Congenital microcephaly 1 1 0 0 2
Protein-losing enteropathy; Short stature; Hydronephrosis; Cataract; Eczema; Immunodeficiency; Intrauterine growth retardation; Neutropenia; Urachal cyst; Thrombocytopenia 0 0 2 0 2
Pulmonary arterial hypertension; Respiratory failure requiring assisted ventilation; Patent ductus arteriosus 0 1 1 0 2
Pulmonary arterial hypertension; Respiratory insufficiency; Pulmonary insufficiency 1 1 0 0 2
Seizures; Micrognathia; Cognitive impairment; Cafe-au-lait spot; Frontal bossing; High forehead; Abnormality of the basal ganglia; Thoracic scoliosis; Abnormal basal ganglia MRI signal intensity 0 0 2 0 2
Sleep disturbance; Choreoathetosis; Chorea; Paroxysmal choreoathetosis; Paroxysmal dyskinesia 0 0 2 0 2
Abnormality of the corpus callosum; Median cleft lip; Accessory oral frenulum; Oral cleft; Agenesis of corpus callosum; Hamartoma of tongue; Colpocephaly 0 0 1 0 1
Abnormality of the vertebral column; Dental malocclusion; Numerous nevi; Inability to walk; Skeletal muscle atrophy; Sensory ataxia; Abnormality of the dorsal column of the spinal cord 0 0 1 0 1
Anonychia; Failure to thrive; Constipation; Abnormality of the dentition; Abnormality of the skin; Pterygium of nails; Sparse scalp hair; Discolored lateral incisors; Abnormal blistering of the skin; Nail dystrophy; Abnormality of skin morphology; Generalized abnormality of skin; Irregular dentition; Hyperkeratotic papule 1 0 0 0 1
Aplasia cutis congenita; Small nail; Hypermelanotic macule; Hypoplastic toenails; Pterygium of nails; Hyperpigmented/hypopigmented macules; Punctate palmoplantar hyperkeratosis; Aplasia/Hypoplasia of the nails; Aplastic/hypoplastic toenail; Mild global developmental delay 0 0 1 0 1
Arrhythmia 0 0 1 0 1
Autistic behavior; Seizures; Cognitive impairment; 2-3 toe syndactyly; Broad forehead; Clinodactyly of the 5th finger; Prominent fingertip pads; Periventricular gray matter heterotopia; Attention deficit hyperactivity disorder 0 0 1 0 1
Autistic behavior; Specific learning disability; Abnormality of the basal ganglia; Abnormality of the globus pallidus; Bilateral basal ganglia lesions; Abnormality of the substantia nigra; Attention deficit hyperactivity disorder 0 0 1 0 1
Autistic disorder of childhood onset; Global developmental delay; Autistic behavior; Micrognathia; Abnormality of the corpus callosum; Nystagmus; Stereotypy; Hypoplasia of the corpus callosum; Abnormality of the pinna; Delayed speech and language development; Downslanted palpebral fissures; Proximal placement of thumb; Speech apraxia; Wide intermamillary distance; Microcephaly; Facial hypotonia; Generalized hypotonia; Abnormality of the cerebral white matter; Downturned corners of mouth; Long toe; Moderate global developmental delay; Cerebral white matter hypoplasia; Long fingers 0 0 1 0 1
Autistic disorder of childhood onset; Global developmental delay; Seizures; Cognitive impairment; Cortical visual impairment; Microcephaly; Developmental regression; Infantile spasms 1 0 0 0 1
Autistic disorder of childhood onset; Pectus excavatum; Esotropia; Global developmental delay; Seizures; Short stature; Failure to thrive; Deeply set eye; Clinodactyly of the 5th finger; Impaired use of nonverbal behaviors; Generalized hypotonia; Chorea; Postnatal microcephaly; Focal white matter lesions 0 1 0 0 1
Autistic disorder of childhood onset; Seizures; Cafe-au-lait spot; Joint laxity 1 0 0 0 1
Blue sclerae; Recurrent fractures 0 1 0 0 1
Congenital muscular dystrophy; Scoliosis; Broad-based gait; Delayed gross motor development; Distal muscle weakness; Gowers sign; Severe muscular hypotonia; Heart murmur 0 1 0 0 1
Crouzon syndrome; Treacher Collins syndrome 1 0 0 0 1
Cryptorchidism; Osteosarcoma; Ambiguous genitalia; Microcephaly; Intellectual disability, severe 1 0 0 0 1
Delayed speech and language development; Specific learning disability; Anxiety; Irregular hyperpigmentation; Chronic constipation; Combined immunodeficiency 0 0 1 0 1
Dentinogenesis imperfecta; Recurrent fractures 1 0 0 0 1
Ectrodactyly; Global developmental delay; Growth delay; Split hand; Microcephaly; Split foot; Lymphadenopathy; Lymphoproliferative disorder; Combined immunodeficiency 0 1 0 0 1
Global developmental delay; Autistic behavior; Expressive language delay; Febrile seizures; Macrocephalus 0 1 0 0 1
Global developmental delay; Cortical visual impairment; Microcephaly; Osteopenia; Infantile spasms 0 1 0 0 1
Global developmental delay; Expressive language delay; Seizures; Single transverse palmar crease; Generalized hypotonia; Broad-based gait; Sensory ataxia 0 0 1 0 1
Global developmental delay; Microcephaly; Intellectual disability; Profound global developmental delay 0 1 0 0 1
Global developmental delay; Motor delay; Seizures; Abnormality of the corpus callosum; Exotropia; Polymicrogyria; Generalized hypotonia; Delayed gross motor development; Gray matter heterotopias; Abnormality of the cerebral white matter; Polyphagia; Unilateral polymicrogyria; Infantile spasms 0 0 1 0 1
Global developmental delay; Preauricular pit; Macrocephalus; Intermittent thrombocytopenia; Hypoplasia of proximal radius; Joint contracture of the hand 0 0 1 0 1
Global developmental delay; Seizures 0 0 1 0 1
Glomerulonephritis; Autoimmunity; Chronic gastritis; Gastritis; Crescentic glomerulonephritis; Chronic kidney disease; Thyroiditis; Type I diabetes mellitus; Autosomal dominant inheritance; X-linked dominant inheritance 0 0 1 0 1
Hyperreflexia; Failure to thrive; Respiratory distress; Ptosis; Clonus; Tachypnea; Severe muscular hypotonia 1 0 0 0 1
Hypertelorism; Megalencephaly; Sudden death; Seizures; Febrile seizures; Gliosis; Frontal bossing; Polymicrogyria; Abnormality of neuronal migration; Death in childhood; Hemimegalencephaly 1 0 0 0 1
Hypotelorism; Horseshoe kidney; Optic disc pallor; Mitral valve prolapse; Aortic root dilatation 1 0 0 0 1
Immunodeficiency 0 1 0 0 1
Immunodeficiency; Trichiasis; Neonatal hypotonia; Nonimmune hydrops fetalis; Lymphopenia; Abnormality of T cell physiology 0 0 1 0 1
Inguinal hernia; Cafe-au-lait spot; Delayed speech and language development; Specific learning disability; Axillary freckling; Inguinal freckling; Familial predisposition 1 0 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 1
Micrognathia; Malar flattening; Stenosis of the external auditory canal; Midface retrusion 1 0 0 0 1
Migraine; Obesity; Short attention span; Muscle weakness; Headache; Nephrolithiasis; Striae distensae; Ectopic ossification; Asthma 1 0 0 0 1
Myositis; Short stature; Kyphosis; Ectopic ossification 0 1 0 0 1
Neoplasm of the central nervous system 1 0 0 0 1
Obesity; Hypothyroidism; Immunodeficiency; Severe T-cell immunodeficiency; Protruding tongue 0 0 1 0 1
Pancytopenia; Arthritis; Dysautonomia; Gastrointestinal dysmotility; Polyarticular arthritis; Sinus tachycardia; Chronic pain; Inappropriate sinus tachycardia 1 0 0 0 1
Polycystic kidney dysplasia 1 0 0 0 1
Recurrent infections; Eczema; Chronic mucocutaneous candidiasis; Blepharitis; Recurrent skin infections; Recurrent Staphylococcus aureus infections; Recurrent fungal infections; Recurrent candida infections; Recurrent bacterial skin infections; Chronic oral candidiasis; Onychomycosis 1 0 0 0 1
Relative macrocephaly; Severe T-cell immunodeficiency; Aplasia of the thymus 0 1 0 0 1
Robin sequence; Skeletal dysplasia; Distal arthrogryposis; Microcephaly 0 0 1 0 1
Seizures; Delayed speech and language development 1 0 0 0 1
Seizures; Failure to thrive; Patent foramen ovale; Tachycardia; Bradycardia; Hypsarrhythmia; Hypoxemia 0 0 0 1 1
Short stature; Hypothyroidism; Delayed speech and language development; Primary hypothyroidism; Severe T-cell immunodeficiency; Chronic oral candidiasis; Liver abscess 1 0 0 0 1
Short stature; Recurrent fractures; Kyphosis 1 0 0 0 1
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangiomas; Congenital talipes calcaneovalgus 1 0 0 0 1

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