ClinVar Miner

List of variants reported as likely pathogenic for cerebellar hypoplasia-tapetoretinal degeneration syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001367721.1(CASK):c.2236+1delinsAT	rs1555975523
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)	rs1057518963
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)	rs375761808
NM_016955.4(SEPSECS):c.388+5G>A	rs1057518887

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