"Blueprint Genetics"[submitter] AND "PRKDC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636434	NM_006904.7(PRKDC):c.9936_9937del (p.Ser3313fs)	PRKDC (S3313fs)	Microsatellite (frameshift variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 636421	NM_006904.7(PRKDC):c.5269A>G (p.Met1757Val)	PRKDC (M1757V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 542005	NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile)	PRKDC (V1337I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379416	NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr)	PRKDC (A1237T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GConflicting classifications of pathogenicity
Select item 636454	NM_006904.7(PRKDC):c.2955G>C (p.Glu985Asp)	PRKDC (E985D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 575842	NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp)	PRKDC (E889D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

ClinVar