ClinVar Miner

List of variants reported as likely pathogenic for polymicrogyria by PreventionGenetics, part of Exact Sciences

Included ClinVar conditions (31):

Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome
Bilateral frontoparietal polymicrogyria
Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral polymicrogyria
Coloboma of optic nerve; Seizure; Choreoathetosis; Polymicrogyria; Intellectual disability; Abnormality of neuronal migration; Cerebellar dysplasia; Chorioretinal lacunae; Neurodevelopmental delay
Complex cortical dysplasia with other brain malformations 7
Complex cortical dysplasia with other brain malformations 7; Complex cortical dysplasia with other brain malformations 1
Congenital bilateral perisylvian syndrome
Congenital bilateral perisylvian syndrome; Congenital fibrosis of extraocular muscles
Corpus callosum, agenesis of; Global developmental delay; Seizure; Polymicrogyria; Microcephaly; Abnormal cerebral cortex morphology
Gastrointestinal defects and immunodeficiency syndrome 2
Global developmental delay; Abnormal facial shape; Polymicrogyria; Difficulty walking
Global developmental delay; Failure to thrive; Developmental dysplasia of the hip; Patent foramen ovale; Atrial septal defect, ostium secundum type; Polymicrogyria; Microcephaly; Microretrognathia; Cerebellar vermis hypoplasia; High anterior hairline; Abnormality of the pulmonary veins; Patent ductus arteriosus
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
Global developmental delay; Motor delay; Polymicrogyria; Hypotonia
Global developmental delay; Motor delay; Seizure; Abnormal corpus callosum morphology; Exotropia; Polymicrogyria; Generalized hypotonia; Delayed gross motor development; Gray matter heterotopia; Abnormal cerebral white matter morphology; Polyphagia; Unilateral polymicrogyria; Infantile spasms
Global developmental delay; Polymicrogyria; Macrocephaly; Capillary hemangioma
Global developmental delay; Polymicrogyria; Microcephaly
Global developmental delay; Seizure; Polymicrogyria; Penile hypospadias; Very long chain fatty acid accumulation
Lissencephaly; Polymicrogyria
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
PI4KA-related disorder
Polymicrogyria
Polymicrogyria, bilateral perisylvian, autosomal recessive
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Spastic paraplegia 84, autosomal recessive; Gastrointestinal defects and immunodeficiency syndrome 2
Polymicrogyria; Cerebellar vermis hypoplasia; Ventriculomegaly
Polymicrogyria; Developmental delay
Seizure; Abnormal cerebral white matter morphology; Unilateral polymicrogyria; Frontoparietal polymicrogyria
Spastic paraplegia 84, autosomal recessive

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter)	rs201395198
NM_058004.4(PI4KA):c.2236C>T (p.Arg746Ter)
NM_058004.4(PI4KA):c.3918dup (p.Glu1307Ter)

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