ClinVar Miner

List of variants in gene PMM2 reported as pathogenic for isolated cerebellar hypoplasia/agenesis

Included ClinVar conditions (19):

Congenital cerebellar hypoplasia
Congenital cerebellar hypoplasia; Abnormal facial shape; Abnormal ileum morphology; Abnormal calvaria morphology; Bronchogenic cyst
Congenital cerebellar hypoplasia; Cerebellar ataxia; Cerebral palsy; Cerebral atrophy; Spasticity; Poor speech
Congenital cerebellar hypoplasia; Cerebellar ataxia; Global developmental delay; Microcephaly; Developmental regression
Congenital cerebellar hypoplasia; Cerebellar ataxia; Muscular dystrophy; Diabetes mellitus
Congenital cerebellar hypoplasia; Corpus callosum, agenesis of
Congenital cerebellar hypoplasia; Corpus callosum, agenesis of; Brachycephaly; Microcephaly; Mild fetal ventriculomegaly
Congenital cerebellar hypoplasia; Dystonic disorder; Global developmental delay; Visual impairment; Generalized hypotonia
Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay
Congenital cerebellar hypoplasia; Feeding difficulties; Ichthyosis; Microcephaly; Abnormality of the skin; Dry skin; Paroxysmal dystonia; Abnormality of salivation
Congenital cerebellar hypoplasia; Global developmental delay; Hypertonia; Nystagmus; Primary microcephaly
Congenital cerebellar hypoplasia; High palate; Delayed puberty; Partial agenesis of the corpus callosum; Microcephaly; Small for gestational age; Abnormal cortical gyration; Hypoglycemic encephalopathy; Periventricular cysts
Congenital cerebellar hypoplasia; Rod-cone dystrophy; Intellectual disability
Congenital cerebellar hypoplasia; Seizure; Absent speech; Microcephaly; Periventricular leukomalacia; Severe global developmental delay
Congenital cerebellar hypoplasia; Seizure; Arthrogryposis multiplex congenita; Kyphosis; Spinal rigidity; Cerebral hypoplasia; Severe global developmental delay
Congenital cerebellar hypoplasia; Seizure; Oligohydramnios; Nystagmus; Hypoplasia of the corpus callosum; Delayed gross motor development
Congenital cerebellar hypoplasia; Seizure; Severe global developmental delay
Familial aplasia of the vermis; Congenital cerebellar hypoplasia; Motor delay; Delayed speech and language development; Amblyopia; Hypoplasia of the brainstem; Congenital sensorineural hearing impairment; Cerebellar hemisphere hypoplasia
Torticollis; Congenital cerebellar hypoplasia; Global developmental delay; Microcephaly; Secondary microcephaly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	rs80338700	0.00001

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