ClinVar for MedGen (Select 767244) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236183	NM_003647.3(DGKE):c.464G>A (p.Arg155Lys)	DGKE (R155K)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 3236025	NM_003647.3(DGKE):c.379T>A (p.Trp127Arg)	DGKE (W127R)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 3068304	NM_003647.3(DGKE):c.465-2A>G	DGKE	Single nucleotide variant (splice acceptor 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
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 2416439	NM_003647.3(DGKE):c.626T>C (p.Leu209Pro)	DGKE (L209P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1705390	NM_003647.3(DGKE):c.322T>A (p.Cys108Ser)	DGKE (C108S)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
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 1634589	NM_003647.3(DGKE):c.625-13C>A	DGKE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely 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 1409980	NM_003647.3(DGKE):c.427C>T (p.Gln143Ter)	DGKE (Q143*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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
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 1329494	NM_003647.3(DGKE):c.842G>A (p.Gly281Glu)	DGKE (G281E)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GLikely pathogenic
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 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 1255480	NM_003647.3(DGKE):c.745-21G>T	DGKE	Single nucleotide variant (intron variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +1 more	GBenign
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 1179079	NM_003647.3(DGKE):c.62_65dup (p.Ile23fs)	DGKE (I23fs)	Duplication (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 1163611	NM_003647.3(DGKE):c.259T>C (p.Cys87Arg)	DGKE (C87R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1032142	NM_003647.3(DGKE):c.303G>C (p.Lys101Asn)	DGKE (K101N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 829884	NM_003647.3(DGKE):c.1099-2A>T	DGKE	Single nucleotide variant (splice acceptor variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
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 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 635454	NM_003647.3(DGKE):c.610dup (p.Thr204fs)	DGKE (T204fs)	Duplication (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +2 more	GPathogenic
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 522494	NM_003647.3(DGKE):c.178C>G (p.His60Asp)	DGKE (H60D)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GLikely pathogenic
Select item 522493	NM_003647.3(DGKE):c.1009C>T (p.Arg337Ter)	DGKE (R337*)	Single nucleotide variant (nonsense)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 424621	NM_003647.3(DGKE):c.728_731del (p.Ile242_Leu243insTer)	DGKE	Deletion (nonsense)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GLikely pathogenic
Select item 397600	NM_003647.3(DGKE):c.1169G>A (p.Arg390His)	DGKE (R390H)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GLikely pathogenic
Select item 397599	NM_003647.3(DGKE):c.1376G>A (p.Trp459Ter)	DGKE (W459*)	Single nucleotide variant (nonsense)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 289334	NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg)	DGKE (Q560R)	Single nucleotide variant (missense variant)	DGKE-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 259116	NM_003647.3(DGKE):c.579A>C (p.Thr193=)	DGKE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 135640	NM_003647.3(DGKE):c.889-1G>A	DGKE	Single nucleotide variant (splice acceptor variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 39580	NM_003647.3(DGKE):c.889-2A>G	DGKE	Single nucleotide variant (splice acceptor variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 39579	NM_003647.3(DGKE):c.610del (p.Thr204fs)	DGKE (T204fs)	Deletion (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 39578	NM_003647.3(DGKE):c.127C>T (p.Gln43Ter)	DGKE (Q43*)	Single nucleotide variant (nonsense)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic

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Items: 40