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: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
LAMA1 6 0 2 8
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
LAMA1, LOC112543434 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
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 8 0 2 10
Lissencephaly with decussation defect 5 0 0 5
Syndromic X-linked intellectual disability Najm type 3 1 0 4
Abnormal cardiovascular system morphology; Congenital diaphragmatic hernia 3 0 0 3
Cephalocele; Joubert syndrome 33 2 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome; Cerebellar vermis hypoplasia 1 1 0 2
PMM2-congenital disorder of glycosylation 2 0 0 2
Pontocerebellar hypoplasia type 6 0 2 0 2
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome; Genetic syndrome with a Dandy-Walker malformation as major feature 0 2 0 2
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome; Cerebellar vermis hypoplasia 1 0 0 1
Cerebellar vermis hypoplasia 0 0 1 1
Cerebellar vermis hypoplasia; Intellectual disability, X-linked 102 1 0 0 1
Cerebellar vermis hypoplasia; Ventriculomegaly 0 1 0 1
Corpus callosum, agenesis of; Cerebellar vermis hypoplasia 0 1 0 1
Corpus callosum, agenesis of; Cerebellar vermis hypoplasia; Dias-Logan syndrome 1 0 0 1
Corpus callosum, agenesis of; Cerebellar vermis hypoplasia; Luscan-Lumish syndrome 1 0 0 1
Corpus callosum, agenesis of; Multicystic kidney dysplasia; Hydrocephalus; Arthrogryposis multiplex congenita 0 1 0 1
Corpus callosum, agenesis of; Multicystic kidney dysplasia; Intellectual disability, X-linked 100; Hydrocephalus; Ventriculomegaly 0 1 0 1
Corpus callosum, agenesis of; Multiple congenital anomalies; Autism spectrum disorder due to AUTS2 deficiency 0 1 0 1
Developmental and epileptic encephalopathy, 4; Cerebellar vermis hypoplasia 0 1 0 1
Developmental and epileptic encephalopathy, 4; West syndrome; Cerebellar vermis hypoplasia 0 1 0 1
Developmental and epileptic encephalopathy, 5 1 0 0 1
Dias-Logan syndrome 1 0 0 1
Dyskeratosis congenita, X-linked 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-Bixler-Demyer syndrome; Cerebellar vermis hypoplasia 1 0 0 1
Intellectual disability, X-linked 102 1 0 0 1
Lissencephaly 1 0 0 1
Lissencephaly due to TUBA1A mutation; Corpus callosum, agenesis of; Cerebellar vermis hypoplasia 0 1 0 1
Lissencephaly due to TUBA1A mutation; Corpus callosum, agenesis of; Genetic syndrome with a Dandy-Walker malformation as major feature 1 0 0 1
Myofibromatosis, infantile, 1; Hydrocephalus 1 0 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
Ritscher-Schinzel syndrome 1; Syndrome with a Dandy-Walker malformation as major feature 0 0 1 1
Ventriculomegaly; Luscan-Lumish syndrome; Genetic syndrome with a Dandy-Walker malformation as major feature 1 0 0 1
X-linked complicated corpus callosum dysgenesis 1 0 0 1

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