ClinVar Miner

List of variants in gene CTLA4 reported as likely pathogenic for type IV hypersensitivity disease

Included ClinVar conditions (21):

Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Autoimmune lymphoproliferative syndrome type 1
Autoimmune lymphoproliferative syndrome type 1; Lung cancer
Autoimmune lymphoproliferative syndrome type 2A
Autoimmune lymphoproliferative syndrome type 2A; Gastric cancer; Lymphoma, non-Hodgkin, familial
Autoimmune lymphoproliferative syndrome type 2A; Neoplasm of stomach
Autoimmune lymphoproliferative syndrome type 2B
Autoimmune lymphoproliferative syndrome type 4
Autoimmune lymphoproliferative syndrome, type 1a
Autoimmune lymphoproliferative syndrome, type 1b
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Castleman-Kojima disease
Celiac disease, susceptibility to, 3; Type 1 diabetes mellitus 12; Hashimoto thyroiditis; Systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Familial cancer of breast; Autoimmune lymphoproliferative syndrome type 2B; Hepatocellular carcinoma; Lung cancer
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Large congenital melanocytic nevus; Neurocutaneous melanocytosis; Linear nevus sebaceous syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type 4; Colorectal cancer
Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2

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:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)	rs1581573705	0.00001
NM_005214.5(CTLA4):c.109+1G>A	rs606231421
NM_005214.5(CTLA4):c.109+1G>T	rs606231421
NM_005214.5(CTLA4):c.110-1G>A
NM_005214.5(CTLA4):c.118G>A (p.Val40Met)	rs1553657378
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr)	rs1553657387
NM_005214.5(CTLA4):c.173G>A (p.Cys58Tyr)
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	rs1553657429
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser)	rs1581573923
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys)	rs1581573923
NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter)	rs886041906

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