ClinVar Miner

Variants studied for Syndromic intellectual disability

Coded as:
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
3 2 38 49 53 145

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KANSL1 0 0 38 26 17 81
KANSL1, MAPT 0 0 0 23 36 59
KAT6A 2 0 0 0 0 2
IRAK1BP1, PHIP 0 1 0 0 0 1
PTH2R 0 1 0 0 0 1
TAF6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 38 49 53 140
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 1
Kasturba Medical College,Manipal University 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 1

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