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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKDC
(K1628*)
Single nucleotide variant
(nonsense)
Severe combined immunodeficiency due to DNA-PKcs deficiency
GUncertain significance
PRKDC
(E889D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
PRKDC
(R854G)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to DNA-PKcs deficiency
GUncertain significance
PRKDC
(P764L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PRKDC
(L177F)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to DNA-PKcs deficiency
+1 more
GUncertain significance
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