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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADA
(M180I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ADA
(L304R +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
+1 more
GPathogenic/Likely pathogenic
ADA
(P297Q +2 more)
Single nucleotide variant
(missense variant +1 more)
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
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ADA
(E87K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
ADA, LOC107303343
(S21A)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
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