ClinVar Miner

List of variants in gene BLNK reported as pathogenic for agammaglobulinemia

Included ClinVar conditions (31):

Agammaglobulinemia
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 61
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: 3

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HGVS	dbSNP
BLNK, IVS1DS, A-T, +3
NC_000010.11:g.(?_96271332)_(96271418_?)del
NM_013314.3(BLNK):c.114delG	rs1554906579

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