Variants studied for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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
35	10	109	54	6	208

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CTLA4	31	10	101	53	6	195
CTLA4, LOC129935461	1	0	8	1	0	10
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

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	28	6	107	54	6	201
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
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
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
New York Genome Center	0	0	1	0	0	1
3billion	0	0	1	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	1	0	0	0	1

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