ClinVar Miner

List of variants reported as likely pathogenic for hydrocephalus by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (29):

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies
Congenital hydrocephalus
Corpus callosum, agenesis of; Multicystic kidney dysplasia; Hydrocephalus; Arthrogryposis multiplex congenita
Corpus callosum, agenesis of; Multicystic kidney dysplasia; Intellectual disability, X-linked 100; Hydrocephalus; Ventriculomegaly
Dandy-Walker syndrome; Clubfoot; Micrognathia; Pleural effusion; Hydrocephalus; Flexed deformity
Dandy-Walker syndrome; Global developmental delay; Hydrocephalus; Cerebellar vermis hypoplasia
Epicanthus; Corpus callosum, agenesis of; Esotropia; Global developmental delay; Hemihypertrophy; Inguinal hernia; Atypical behavior; Scoliosis; Overgrowth; Unsteady gait; Abnormal facial shape; Poor head control; Hydrocephalus; Facial asymmetry; Gait imbalance; Poor motor coordination; Chiari malformation; Cortical dysplasia; High, narrow palate; Increased mean corpuscular volume; Metopic synostosis; Heart murmur; Ventricular septal defect; Attention deficit hyperactivity disorder; Asthma
Focal impaired awareness seizure; Abnormal facial shape; Hydrocephalus; Dolichocephaly; High forehead; Absent septum pellucidum; Aqueductal stenosis; Persistent open anterior fontanelle; Dysplastic corpus callosum; Prominent forehead
Global developmental delay; Hydrocephalus; Cerebellar atrophy; Bilateral squint
Global developmental delay; Seizure; Hydrocephalus
Hemiparesis; Focal epilepsy; Hydrocephalus
Hydrocephalus
Hydrocephalus, congenital, 3, with brain anomalies
Hydrocephalus, nonsyndromic, autosomal recessive 1
Hydrocephalus, nonsyndromic, autosomal recessive 1; Macrocephaly
Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 2
Hypertelorism; High palate; Low-set ears; Cranial asymmetry; Abnormal pinna morphology; Downslanted palpebral fissures; Flat occiput; Narrow forehead; Short neck; Hydrocephalus; Brachyturricephaly; Wide anterior fontanel; Facial asymmetry; High forehead; Choanal stenosis; Shallow orbits; Abnormal posterior cranial fossa morphology; Deviated nasal septum; Lateral ventricle dilatation; Hypointensity of cerebral white matter on MRI; Abnormal zygomatic bone morphology; Mild fetal ventriculomegaly
Hypertelorism; Overgrowth; Brachycephaly; Hydrocephalus; Hand polydactyly; Intellectual disability; Basal cell carcinoma
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome
MASA syndrome; X-linked hydrocephalus syndrome
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Myofibromatosis, infantile, 1; Hydrocephalus
Normal pressure hydrocephalus
Normal pressure hydrocephalus; Failure to thrive; Optic atrophy; Hypoventilation; Blindness; Bilateral ptosis; Hypertrophic cardiomyopathy; Global brain atrophy; Chronic lactic acidosis; Restrictive external ophthalmoplegia; Infantile muscular hypotonia; Severe global developmental delay; Diffuse cerebellar atrophy
Porencephalic cyst; Hydrocephalus; Dolichocephaly; Narrow chest; Neonatal hypotonia; Umbilical hernia; Macrocephaly at birth; Severe global developmental delay
X-linked hydrocephalus syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)	rs782163019
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)	rs587777620
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly)	rs2043757489
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val)	rs1574509510

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