ClinVar Miner

Variants from Institute for Human Genetics, University Hospital Essen

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
58 26 11 0 0 95

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SOX5 22 2 4 28
SYN1 14 2 6 22
CHD5 0 16 1 17
ANKRD11 13 3 0 16
KCNN2, LOC101927078 4 2 0 6
KCNN2 3 1 0 4
BCAT1, LINC02909, SOX5 1 0 0 1
MARCHF6 1 0 0 1

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance total
Lamb-Shaffer syndrome 23 2 0 25
Global developmental delay 14 6 0 20
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 12 1 5 18
Global developmental delay; Seizure; Intellectual disability 0 5 0 5
Global developmental delay; Intellectual disability 0 3 1 4
Intellectual disability, X-linked 50 2 1 1 4
Intellectual disability 0 0 3 3
Seizure 0 3 0 3
Global developmental delay; Seizure 0 2 0 2
Cerebellar ataxia; Global developmental delay; Autistic behavior; Intellectual disability 0 1 0 1
Cerebellar ataxia; Global developmental delay; Dyskinesia; Intellectual disability, mild 1 0 0 1
Cerebellar ataxia; Global developmental delay; Intellectual disability, mild 1 0 0 1
Epilepsy, familial adult myoclonic, 3 1 0 0 1
Global developmental delay; Autistic behavior; Intellectual disability, moderate 1 0 0 1
Global developmental delay; Autistic behavior; Intellectual disability, severe; Motor tics 1 0 0 1
Global developmental delay; Autistic behavior; Intellectual disability; Motor tics 0 1 0 1
Global developmental delay; Autistic behavior; Seizure; Intellectual disability, mild 1 0 0 1
Global developmental delay; Autistic behavior; Seizure; Intellectual disability, moderate 0 1 0 1
Global developmental delay; Intellectual disability; Bradykinesia; Motor tics 1 0 0 1
Tourette syndrome 0 0 1 1

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