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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRBA
(R1997C)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to LRBA deficiency
+1 more
GBenign/Likely benign
LRBA
Single nucleotide variant
(synonymous variant)
LRBA-related disorder
+2 more
GBenign/Likely benign
LRBA
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to LRBA deficiency
+3 more
GLikely benign
LRBA
(N815S)
Single nucleotide variant
(missense variant)
LRBA-related disorder
+3 more
GConflicting classifications of pathogenicity
LRBA
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to LRBA deficiency
+2 more
GConflicting classifications of pathogenicity
LRBA
(I724V)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to LRBA deficiency
GBenign
LRBA
Duplication
(intron variant)
Combined immunodeficiency due to LRBA deficiency
GBenign
LRBA
Deletion
(intron variant)
Combined immunodeficiency due to LRBA deficiency
+1 more
GBenign
LRBA
Duplication
(intron variant)
Combined immunodeficiency due to LRBA deficiency
+1 more
GBenign
LRBA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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