ClinVar Miner

Variants from Dobyns Lab,Seattle Children's Research Institute

Location: United States — Primary collection method: research
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
39 14 7 0 0 60

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
LAMA1 7 0 2 9
MACF1 6 0 1 7
CASK 3 1 0 4
GATA6 3 0 0 3
BCL11A 2 0 0 2
DDX3X 2 0 0 2
FOXP1 1 1 0 2
HYLS1, PUS3 0 2 0 2
PIBF1 2 0 0 2
PMM2 2 0 0 2
RARS2 0 2 0 2
SETD2 2 0 0 2
STXBP1 0 2 0 2
TUBA1A 1 1 0 2
AHDC1 1 0 0 1
AUTS2 0 1 0 1
BACH1 0 0 1 1
BAG6 0 0 1 1
BRAF 1 0 0 1
DKC1 1 0 0 1
DPYSL5 0 0 1 1
FGFR1 1 0 0 1
FZD3 0 1 0 1
KIF4A 0 1 0 1
L1CAM 1 0 0 1
LAMA1, LOC101927188 1 0 0 1
PDGFRB 1 0 0 1
SEMA6B 0 0 1 1
SPTAN1 1 0 0 1
TMLHE 0 1 0 1
WDR37 0 1 0 1

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance total
Poretti-Boltshauser syndrome 8 0 2 10
Lissencephaly with decussation defect 5 0 0 5
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 3 1 0 4
Abnormality of cardiovascular system morphology; Congenital diaphragmatic hernia 3 0 0 3
Carbohydrate-deficient glycoprotein syndrome type I 2 0 0 2
Cephalocele; JOUBERT SYNDROME 33 2 0 0 2
Mental retardation with language impairment and with or without autistic features; Cerebellar vermis hypoplasia 1 1 0 2
Mental retardation, autosomal recessive 55; Genetic syndrome with a Dandy-Walker malformation as major feature 0 2 0 2
Pontocerebellar hypoplasia type 6 0 2 0 2
Agenesis of corpus callosum; Cerebellar vermis hypoplasia 0 1 0 1
Agenesis of corpus callosum; Cerebellar vermis hypoplasia; Intellectual developmental disorder with persistence of fetal hemoglobin 1 0 0 1
Agenesis of corpus callosum; Cerebellar vermis hypoplasia; Luscan-lumish syndrome 1 0 0 1
Cerebellar vermis hypoplasia 0 0 1 1
Cerebellar vermis hypoplasia; Mental retardation, X-linked 102 1 0 0 1
Cerebellar vermis hypoplasia; Ventriculomegaly 0 1 0 1
Corpus callosum, partial agenesis of, X-linked 1 0 0 1
Dandy-Walker like malformation with atrioventricular septal defect; Syndrome with a Dandy-Walker malformation as major feature 0 0 1 1
Dyskeratosis congenita X-linked 1 0 0 1
Early infantile epileptic encephalopathy 4; Cerebellar vermis hypoplasia 0 1 0 1
Early infantile epileptic encephalopathy 4; West syndrome; Cerebellar vermis hypoplasia 0 1 0 1
Early infantile epileptic encephalopathy 5 1 0 0 1
Facial hemangioma; Isolated unilateral hemispheric cerebellar hypoplasia 0 0 1 1
Grade I preterm intraventricular hemorrhage; Isolated unilateral hemispheric cerebellar hypoplasia 0 0 1 1
Hartsfield syndrome; Cerebellar vermis hypoplasia 1 0 0 1
Infantile myofibromatosis 1; Hydrocephalus 1 0 0 1
Intellectual developmental disorder with persistence of fetal hemoglobin 1 0 0 1
Lissencephaly 1 0 0 1
Lissencephaly 3; Agenesis of corpus callosum; Cerebellar vermis hypoplasia 0 1 0 1
Lissencephaly 3; Agenesis of corpus callosum; Genetic syndrome with a Dandy-Walker malformation as major feature 1 0 0 1
Mental retardation, X-linked 102 1 0 0 1
Multicystic kidney dysplasia; Hydrocephalus; Agenesis of corpus callosum; Arthrogryposis multiplex congenita 0 1 0 1
Multicystic kidney dysplasia; Mental retardation, X-linked 100; Hydrocephalus; Agenesis of corpus callosum; Ventriculomegaly 0 1 0 1
Multiple congenital anomalies; Mental retardation, autosomal dominant 26; Agenesis of corpus callosum 0 1 0 1
PHACE syndrome; Tethered cord; Genetic syndrome with a Dandy-Walker malformation as major feature 1 0 0 1
Periventricular nodular heterotopia; Isolated unilateral hemispheric cerebellar hypoplasia 0 0 1 1
Ventriculomegaly; Luscan-lumish syndrome; Genetic syndrome with a Dandy-Walker malformation as major feature 1 0 0 1
Xia-Gibbs syndrome; Cerebellar vermis hypoplasia 1 0 0 1

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