ClinVar Miner

List of variants in gene BLNK reported as pathogenic for agammaglobulinemia

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

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP
BLNK, IVS1DS, A-T, +3
NM_013314.3(BLNK):c.114delG	rs1554906579

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