ClinVar Miner

Variants studied for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

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
39 21 118 59 6 234

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
CTLA4 34 21 110 57 6 219
CTLA4, LOC129935461 1 0 8 2 0 11
ABI2, ALS2, BMPR2, C2CD6, CARF, CASP10, CASP8, CD28, CDK15, CFLAR, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, ICA1L, ICOS, MPP4, NBEAL1, NDUFB3, NOP58, RAPH1, STRADB, SUMO1, TMEM237, TRAK2, WDR12 1 0 0 0 0 1
CD28, CTLA4, ICOS, RAPH1 1 0 0 0 0 1
CTLA4, ICOS 1 0 0 0 0 1
KCNH2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 30 8 113 59 6 216
National Institute of Immunohaematology, Indian Council of Medical Research 1 7 0 0 0 8
OMIM 6 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 0 0 4
Baylor Genetics 2 0 1 0 0 3
Fulgent Genetics, Fulgent Genetics 1 2 0 0 0 3
Department of Immunology, University Hospital Southampton NHSFT 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Choi Lab, Seoul National University 1 0 0 0 0 1
Department of Ophthalmology, Flinders Medical Centre 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
3billion 1 0 0 0 0 1

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