ClinVar Miner

List of variants studied for corpus callosum, agenesis of by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (32):

Autism; Corpus callosum, agenesis of; Hypertrichosis; Broad thumb; Delayed speech and language development
Congenital cerebellar hypoplasia; Corpus callosum, agenesis of
Congenital cerebellar hypoplasia; Corpus callosum, agenesis of; Brachycephaly; Microcephaly; Mild fetal ventriculomegaly
Corpus callosum, agenesis of
Corpus callosum, agenesis of; Abnormal cerebral cortex morphology; Colpocephaly
Corpus callosum, agenesis of; Abnormality of the head; Transverse facial cleft; Abnormal optic chiasm morphology
Corpus callosum, agenesis of; Arachnoid cyst; Periventricular heterotopia
Corpus callosum, agenesis of; Axon pathfinding, cardiac, ocular and genital defects
Corpus callosum, agenesis of; Cerebellar vermis hypoplasia
Corpus callosum, agenesis of; Cerebellar vermis hypoplasia; Dias-Logan syndrome
Corpus callosum, agenesis of; Cerebellar vermis hypoplasia; Luscan-Lumish syndrome
Corpus callosum, agenesis of; Diabetes mellitus
Corpus callosum, agenesis of; Global developmental delay; Seizure; Aggressive behavior; Hypothyroidism; Stereotypic movement disorder; Abnormality of the dentition; Decreased response to growth hormone stimulation test
Corpus callosum, agenesis of; Global developmental delay; Seizure; Microcephaly; Cerebellar vermis hypoplasia; Developmental regression
Corpus callosum, agenesis of; Global developmental delay; Seizure; Polymicrogyria; Microcephaly; Abnormal cerebral cortex morphology
Corpus callosum, agenesis of; Hypertrichosis; Global developmental delay; Neonatal hypotonia; Nail dysplasia
Corpus callosum, agenesis of; Imperforate anus; Global developmental delay; Abnormal facial shape; Broad thumb; Intellectual disability
Corpus callosum, agenesis of; Lissencephaly; Microcephaly; Generalized hypotonia
Corpus callosum, agenesis of; Microcephaly; Epileptic encephalopathy
Corpus callosum, agenesis of; Multicystic kidney dysplasia; Hydrocephalus; Arthrogryposis multiplex congenita
Corpus callosum, agenesis of; Multicystic kidney dysplasia; Intellectual disability, X-linked 100; Hydrocephalus; Ventriculomegaly
Corpus callosum, agenesis of; Multiple congenital anomalies; Autism spectrum disorder due to AUTS2 deficiency
Corpus callosum, agenesis of; Neurodevelopmental delay; Ectopic scrotum; Cleft lip
Corpus callosum, agenesis of; Orofacial cleft; Abnormal corpus callosum morphology; Median cleft upper lip; Accessory oral frenulum; Hamartoma of tongue; Colpocephaly
Corpus callosum, agenesis of; Retinal degeneration; Primary amenorrhea; Hepatic steatosis; Severe hearing impairment
Corpus callosum, agenesis of; Seizure; Focal-onset seizure; Ectopic tissue
Corpus callosum, agenesis of; Seizure; Intellectual disability; Periventricular heterotopia; Chorioretinal lacunae; Neurodevelopmental delay
Cryptorchidism; Corpus callosum, agenesis of; Lissencephaly
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
Hypertelorism; Corpus callosum, agenesis of; Low-set ears; Abnormal facial shape; Clinodactyly of the 5th finger
Lissencephaly due to TUBA1A mutation; Corpus callosum, agenesis of; Cerebellar vermis hypoplasia
Lissencephaly due to TUBA1A mutation; Corpus callosum, agenesis of; Genetic syndrome with a Dandy-Walker malformation as major feature

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Minimum conflict level: Report conflict between different conditions
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala)	rs1289349820	0.00001
NM_000381.4(MID1):c.1765A>G (p.Asn589Asp)	rs1556001939
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	rs886041116
NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)	rs1555380716
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)	rs1057518951
NM_001376.5(DYNC1H1):c.13047GGA[1] (p.Glu4350del)	rs1555412533
NM_001429.4(EP300):c.2027G>C (p.Gly676Ala)	rs1555908795
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	rs80338758
NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser)	rs1553820694

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