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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CD
(E200K)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
+3 more
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
PIK3CD-related disorder
+4 more
GBenign
LOC126805612, PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
+3 more
GUncertain significance
LOC126805612, PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
+3 more
GUncertain significance
LOC126805612, PIK3CD
(T436M +1 more)
Single nucleotide variant
(missense variant)
PIK3CD-related disorder
+4 more
GBenign/Likely benign
PIK3CD
Single nucleotide variant
(intron variant)
Combined immunodeficiency with faciooculoskeletal anomalies
+3 more
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency with faciooculoskeletal anomalies
+3 more
GBenign/Likely benign
PIK3CD
Single nucleotide variant
(intron variant)
Combined immunodeficiency with faciooculoskeletal anomalies
+2 more
GLikely benign
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