"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DGKE"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1179079	NM_003647.3(DGKE):c.62_65dup (p.Ile23fs)	DGKE (I23fs)	Duplication (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 731569	NM_003647.3(DGKE):c.129G>A (p.Gln43=)	DGKE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 992474	NM_003647.3(DGKE):c.233C>G (p.Ala78Gly)	DGKE (A78G)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +1 more	GUncertain significance
Select item 1409980	NM_003647.3(DGKE):c.427C>T (p.Gln143Ter)	DGKE (Q143*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 39579	NM_003647.3(DGKE):c.610del (p.Thr204fs)	DGKE (T204fs)	Deletion (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 1634589	NM_003647.3(DGKE):c.625-13C>A	DGKE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1638110	NM_003647.3(DGKE):c.744+17A>T	DGKE	Single nucleotide variant (intron variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +1 more	GLikely benign
Select item 1220836	NM_003647.3(DGKE):c.798T>A (p.Leu266=)	DGKE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1528622	NM_003647.3(DGKE):c.888+12T>C	DGKE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely 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 1032143	NM_003647.3(DGKE):c.995T>C (p.Val332Ala)	DGKE (V332A)	Single nucleotide variant (missense variant)	not provided +1 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 775386	NM_003647.3(DGKE):c.1440T>C (p.Val480=)	DGKE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 635453	NM_003647.3(DGKE):c.1442dup (p.Val482fs)	DGKE (V482fs)	Duplication (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +1 more	GLikely pathogenic
Select item 1347716	NM_003647.3(DGKE):c.1688T>C (p.Ile563Thr)	DGKE (I563T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance