"GeneDx"[submitter] AND "LOC121740717"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 151956	GRCh38/hg38 8q11.21(chr8:47701537-47918282)x3	CEBPD, LOC121740717 +7 more	Copy number gain	See cases	GUncertain significance
Select item 379649	NM_006904.7(PRKDC):c.8695C>T (p.Arg2899Cys)	LOC121740717, PRKDC (R2899C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 656998	NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu)	LOC121740717, PRKDC (V2888L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 475240	NM_006904.7(PRKDC):c.8661C>T (p.Pro2887=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GBenign/Likely benign

ClinVar