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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKDC
(P3345T)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to DNA-PKcs deficiency
GUncertain significance
PRKDC
(V1211D)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to DNA-PKcs deficiency
GUncertain significance