C3554330[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339010	NM_003647.3(DGKE):c.293G>A (p.Cys98Tyr)	DGKE (C98Y)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 2585436	NM_003647.3(DGKE):c.531T>G (p.Cys177Trp)	DGKE (C177W)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 1312987	NM_003647.3(DGKE):c.713G>A (p.Gly238Glu)	DGKE (G238E)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +3 more	GUncertain significance
Select item 1322206	NM_003647.3(DGKE):c.1068_1071del (p.Asn356fs)	DGKE (N356fs)	Deletion (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GLikely pathogenic
Select item 2585553	NM_003647.3(DGKE):c.1295A>T (p.Asp432Val)	DGKE (D432V)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance

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