ClinVar Miner

List of variants studied 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
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	rs146824138	0.00071
NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala)	rs1289349820	0.00001
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
NM_001367721.1(CASK):c.2236+1delinsAT	rs1555975523
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)	rs1057518888
NM_002016.2(FLG):c.544A>T (p.Lys182Ter)	rs1218912272
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
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)	rs397517987

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