ClinVar Miner

List of variants studied for polymicrogyria by Baylor Genetics

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
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=)	rs113882528	0.00176
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=)	rs113584704	0.00175
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00117
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile)	rs185657767	0.00019
NM_201525.4(ADGRG1):c.620+11C>T	rs200892904	0.00004
NM_014845.6(FIG4):c.2119G>A (p.Gly707Arg)	rs376570182	0.00001
NM_201525.4(ADGRG1):c.1016C>T (p.Pro339Leu)	rs575505827	0.00001
NM_014845.6(FIG4):c.365A>G (p.His122Arg)
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser)	rs1935729656
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe)	rs1932362121
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter)	rs144933467
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)
NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu)	rs1581525728
NM_178012.5(TUBB2B):c.257G>T (p.Arg86Ile)
NM_178012.5(TUBB2B):c.761C>A (p.Ala254Glu)	rs1757274660
NM_201525.4(ADGRG1):c.709G>T (p.Val237Leu)	rs777329430

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