"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 290120	NM_003647.3(DGKE):c.35C>T (p.Pro12Leu)	DGKE (P12L)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 783790	NM_003647.3(DGKE):c.59G>A (p.Gly20Glu)	DGKE (G20E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 635454	NM_003647.3(DGKE):c.610dup (p.Thr204fs)	DGKE (T204fs)	Duplication (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +2 more	GPathogenic
Select item 1220836	NM_003647.3(DGKE):c.798T>A (p.Leu266=)	DGKE	Single nucleotide variant (synonymous variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +2 more	GBenign/Likely benign
Select item 135641	NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)	DGKE (W322*)	Single nucleotide variant (nonsense)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +2 more	GPathogenic
Select item 1712466	NM_003647.3(DGKE):c.999G>A (p.Ala333=)	DGKE	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712449	NM_003647.3(DGKE):c.1206TAA[1] (p.Asn403del)	DGKE (N403del)	Microsatellite (inframe_deletion)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712363	NM_003647.3(DGKE):c.1347C>T (p.Ile449=)	DGKE	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity