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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3R1
Single nucleotide variant
(splice donor variant)
SHORT syndrome
+3 more
GPathogenic
PIK3R1
(R649W +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+4 more
GPathogenic/Likely pathogenic