ClinVar Miner

List of variants studied for polymicrogyria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp)	rs532188689	0.00001
NM_058004.4(PI4KA):c.1687G>T (p.Glu563Ter)
NM_058004.4(PI4KA):c.2977del (p.Leu993fs)
NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser)	rs121908463
NM_201525.4(ADGRG1):c.1046G>C (p.Trp349Ser)
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)	rs121908462
NM_201525.4(ADGRG1):c.1457G>A (p.Trp486Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.