ClinVar Miner

Variants from Institute for Genomic Medicine, Columbia University,Columbia University Medical Center

Location: United States — Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
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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
10 3 0 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic total
GNB1 9 0 9
KIF1A 0 2 2
ATP7B 1 0 1
MYBPC1 0 1 1

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic total
Mental retardation, autosomal dominant 9 0 2 2
Global developmental delay; Expressive language delay; Seizures; Failure to thrive; Feeding difficulties; Growth delay; Nystagmus; Cortical visual impairment; Strabismus; Intellectual disability; Limb hypertonia; Inability to walk; Multifocal epileptiform discharges; Muscular hypotonia 1 0 1
Global developmental delay; Expressive language delay; Seizures; Failure to thrive; Growth delay; Nystagmus; Strabismus; Developmental regression; Limb hypertonia; Inability to walk; Multifocal epileptiform discharges; EEG with generalized epileptiform discharges; Muscular hypotonia 1 0 1
Global developmental delay; Expressive language delay; Seizures; Focal seizures with impairment of consciousness or awareness; Intellectual disability; Generalized tonic-clonic seizures; Developmental regression; Multifocal epileptiform discharges; EEG with generalized epileptiform discharges; Muscular hypotonia 1 0 1
Global developmental delay; Intellectual disability; Infantile muscular hypotonia; Muscular hypotonia 1 0 1
Global developmental delay; Muscular hypotonia 1 0 1
Global developmental delay; Seizures; Failure to thrive; Feeding difficulties; Focal seizures with impairment of consciousness or awareness; Growth delay; Cortical visual impairment; Limb hypertonia; Infantile muscular hypotonia; Multifocal epileptiform discharges; Muscular hypotonia 1 0 1
Global developmental delay; Seizures; Failure to thrive; Focal seizures with impairment of consciousness or awareness; Strabismus; Limb hypertonia 1 0 1
Global developmental delay; Seizures; Feeding difficulties; Growth delay; Strabismus; Infantile muscular hypotonia; EEG with generalized epileptiform discharges; Muscular hypotonia 1 0 1
Global developmental delay; Seizures; Intellectual disability; Generalized tonic-clonic seizures; Muscular hypotonia 1 0 1
MYBPC1-related condition 0 1 1
Wilson disease 1 0 1

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