C4014833[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 569786	NM_006904.7(PRKDC):c.11561C>T (p.Ala3854Val)	PRKDC (A3854V +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1548626	NM_006904.7(PRKDC):c.7812G>A (p.Pro2604=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GConflicting classifications of pathogenicity
Select item 542001	NM_006904.7(PRKDC):c.6901C>G (p.Gln2301Glu)	PRKDC (Q2301E)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GConflicting classifications of pathogenicity
Select item 625998	NM_006904.7(PRKDC):c.5572-4G>A	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GConflicting classifications of pathogenicity
Select item 1009162	NM_006904.7(PRKDC):c.5107A>G (p.Thr1703Ala)	PRKDC (T1703A)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 625999	NM_006904.7(PRKDC):c.4138G>A (p.Ala1380Thr)	PRKDC (A1380T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 790839	NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly)	PRKDC (S1300G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GConflicting classifications of pathogenicity
Select item 2500071	NM_006904.7(PRKDC):c.3236C>T (p.Ser1079Leu)	PRKDC (S1079L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 992552	NM_006904.7(PRKDC):c.1713C>T (p.Ser571=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity