Variants studied for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
12	2	23	1	1	38

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CTLA4	12	2	23	1	1	38

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	5	0	23	1	1	30
OMIM	6	0	0	0	0	6
Department of Immunology,University Hospital Southampton NHSFT	0	2	0	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

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