ClinVar Miner

Variants studied for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Included ClinVar conditions (2):
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
23 6 52 10 1 87

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CTLA4 21 6 52 10 1 85
CD28, CTLA4, ICOS, RAPH1 1 0 0 0 0 1
CTLA4, ICOS 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 4 51 10 1 81
OMIM 6 0 0 0 0 6
Baylor Genetics 2 0 0 0 0 2
Department of Immunology,University Hospital Southampton NHSFT 0 2 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 1 0 0 2
Choi Lab,Seoul National University 1 0 0 0 0 1
Department of Ophthalmology,Flinders Medical Centre 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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