ClinVar Miner

Variants studied for PEHO syndrome

Included ClinVar conditions (1):
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 not provided total
4 1 1 0 0 1 6

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
KIF1A 3 0 0 0 3
ZNHIT3 1 1 1 0 2
CCDC88A 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Child and Family Research Institute 3 0 0 0 3
OMIM 1 0 0 0 1
Baylor Genetics 0 0 1 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 1 1

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