ClinVar Miner

List of variants studied for agammaglobulinemia by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (31):

Agammaglobulinemia
Agammaglobulinemia X-linked type 2
Agammaglobulinemia 2, autosomal recessive
Agammaglobulinemia 3, autosomal recessive
Agammaglobulinemia 4, autosomal recessive
Agammaglobulinemia 5, autosomal dominant
Agammaglobulinemia 6, autosomal recessive
Agammaglobulinemia 7, autosomal recessive
Agammaglobulinemia 8, autosomal dominant
Agammaglobulinemia, non-Bruton type
Common variable immunodeficiency
Common variable immunodeficiency 1
Common variable immunodeficiency 10
Common variable immunodeficiency 11
Common variable immunodeficiency 2
Common variable immunodeficiency 2; Immunoglobulin A deficiency 2
Common variable immunodeficiency 3
Common variable immunodeficiency 4
Common variable immunodeficiency 5
Common variable immunodeficiency 6
Common variable immunodeficiency 7
Common variable immunodeficiency 8, with autoimmunity
IMMUNODEFICIENCY, COMMON VARIABLE, 14
Immunodeficiency 14
Immunodeficiency 36
Immunodeficiency, common variable, 12
Immunodeficiency, common variable, 13
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36
Systemic lupus erythematosus 9; Common variable immunodeficiency 7
X-linked agammaglobulinemia
X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 1

Download table as spreadsheet

HGVS	dbSNP
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.