"Baylor Genetics"[submitter] AND "PRKDC"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 838947	NM_006904.7(PRKDC):c.11990T>C (p.Leu3997Pro)	PRKDC (L3966P +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1032501	NM_006904.7(PRKDC):c.10778G>A (p.Arg3593Lys)	PRKDC (R3593K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
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 1033164	NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GConflicting classifications of pathogenicity
Select item 1033163	NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GConflicting classifications of pathogenicity
Select item 952474	NM_006904.7(PRKDC):c.6284C>T (p.Ala2095Val)	PRKDC (A2095V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 429510	NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)	PRKDC (L1707Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GConflicting classifications of pathogenicity
Select item 968554	NM_006904.7(PRKDC):c.4861A>G (p.Thr1621Ala)	PRKDC (T1621A)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1031107	NM_006904.7(PRKDC):c.4773A>G (p.Lys1591=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1031106	NM_006904.7(PRKDC):c.3364+4C>T	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1031105	NM_006904.7(PRKDC):c.1187T>C (p.Phe396Ser)	PRKDC (F396S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 1014210	NM_006904.7(PRKDC):c.1054G>A (p.Val352Met)	PRKDC (V352M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 642943	NM_006904.7(PRKDC):c.655G>C (p.Val219Leu)	PRKDC (V219L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 542024	NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys)	PRKDC (S141C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity