ClinVar Miner

List of variants reported as uncertain significance for hydrocephalus by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)	rs142295786	0.00150
NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln)	rs372168003	0.00016
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)	rs587782989	0.00011
NM_001378778.1(MPDZ):c.2401G>T (p.Asp801Tyr)	rs758473798	0.00007
NM_001378778.1(MPDZ):c.3741+6C>T	rs368808895	0.00003
NM_001080414.4(CCDC88C):c.3539G>A (p.Arg1180Gln)	rs1166585047
NM_001378778.1(MPDZ):c.5567A>C (p.Glu1856Ala)	rs199730853

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.