ClinVar Miner

List of variants in gene SMARCC1 reported as likely pathogenic for hydrocephalus

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs)	rs1576412227
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro)	rs1576408057
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs)	rs1576408050
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs)	rs1576390243
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)	rs1576426439

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