"Richard Lifton Laboratory, Yale University School of Medicine"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 50789	NM_003647.3(DGKE):c.32C>A (p.Ser11Ter)	DGKE (S11*)	Single nucleotide variant (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 7 +1 more	GLikely pathogenic; risk factor
Select item 135638	NM_003647.3(DGKE):c.472dup (p.Trp158fs)	DGKE (W158fs)	Duplication (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 135639	NM_003647.3(DGKE):c.486dup (p.Val163fs)	DGKE (V163fs)	Duplication (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 7 +1 more	GLikely pathogenic; risk factor
Select item 50790	NM_003647.3(DGKE):c.818G>C (p.Arg273Pro)	DGKE (R273P)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 7 +1 more	GLikely pathogenic; risk factor
Select item 135640	NM_003647.3(DGKE):c.889-1G>A	DGKE	Single nucleotide variant (splice acceptor variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
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 135637	NM_003647.3(DGKE):c.1000C>T (p.Gln334Ter)	DGKE (Q334*)	Single nucleotide variant (nonsense)	Atypical hemolytic-uremic syndrome	GLikely pathogenic

ClinVar