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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008987, ORAI1
(M1L)
Single nucleotide variant
Combined immunodeficiency due to ORAI1 deficiency
+2 more
GUncertain significance
ORAI1, LOC130008987
Deletion
Combined immunodeficiency due to ORAI1 deficiency
+2 more
GConflicting classifications of pathogenicity
LOC130008987, ORAI1
(P46fs)
Insertion
not provided
+3 more
GLikely benign
ORAI1
Duplication
not provided
GUncertain significance
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