ClinVar Miner

List of variants reported as likely pathogenic for corpus callosum, agenesis of

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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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)	rs782785654	0.00005
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile)	rs1582940678	0.00001
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	rs886041116
NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)	rs1555380716
NM_001374828.1(ARID1B):c.1637_1638del (p.Ala546fs)	rs2115002258
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn)	rs1599017933
NM_001845.6(COL4A1):c.388-1G>C	rs766209938
NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)	rs1653248260
NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn)	rs1565627707
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)	rs1569234334
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)	rs1563183469
NM_017412.4(FZD3):c.1616dup (p.Asp539fs)	rs1563406024
NM_018249.5(CDK5RAP2):c.[280G>C];[3695A>G]
NM_058169.6(BORCS5):c.203-1G>T	rs1555155556
NM_139058.3(ARX):c.994C>T (p.Arg332Cys)	rs2147323593

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