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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADA
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GBenign
ADA
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
+2 more
GConflicting classifications of pathogenicity
ADA
(R142Q)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GBenign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
+2 more
GBenign/Likely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
+1 more
GBenign/Likely benign
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