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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126805994, CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
+1 more
GConflicting classifications of pathogenicity
CR2
Single nucleotide variant
(splice donor variant)
Immunodeficiency, common variable, 7
+1 more
GConflicting classifications of pathogenicity
CR2
(G559E)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
+1 more
GConflicting classifications of pathogenicity
CR2
(R716Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CR2
(S1016L +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
+4 more
GUncertain significance
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