"Ambry Genetics"[submitter] AND "DGKE"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1985910	NM_003647.3(DGKE):c.166C>T (p.Arg56Cys)	DGKE (R56C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3271720	NM_003647.3(DGKE):c.187C>G (p.Arg63Gly)	DGKE (R63G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1163610	NM_003647.3(DGKE):c.235C>G (p.Gln79Glu)	DGKE (Q79E)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome with DGKE deficiency +2 more	GUncertain significance
Select item 3271718	NM_003647.3(DGKE):c.243T>G (p.Ile81Met)	DGKE (I81M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285145	NM_003647.3(DGKE):c.277C>A (p.Arg93Ser)	DGKE (R93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608009	NM_003647.3(DGKE):c.284A>G (p.Asp95Gly)	DGKE (D95G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1032142	NM_003647.3(DGKE):c.303G>C (p.Lys101Asn)	DGKE (K101N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2074892	NM_003647.3(DGKE):c.445C>G (p.Pro149Ala)	DGKE (P149A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2376306	NM_003647.3(DGKE):c.562C>A (p.Pro188Thr)	DGKE (P188T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183438	NM_003647.3(DGKE):c.601G>C (p.Asp201His)	DGKE (D201H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2270446	NM_003647.3(DGKE):c.697G>A (p.Gly233Arg)	DGKE (G233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312987	NM_003647.3(DGKE):c.713G>A (p.Gly238Glu)	DGKE (G238E)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 3081903	NM_003647.3(DGKE):c.784C>G (p.Gln262Glu)	DGKE (Q262E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397692	NM_003647.3(DGKE):c.794C>T (p.Thr265Ile)	DGKE (T265I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2465693	NM_003647.3(DGKE):c.877A>C (p.Met293Leu)	DGKE (M293L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240871	NM_003647.3(DGKE):c.1090A>C (p.Lys364Gln)	DGKE (K364Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338730	NM_003647.3(DGKE):c.1166A>G (p.His389Arg)	DGKE (H389R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397722	NM_003647.3(DGKE):c.1177G>T (p.Ala393Ser)	DGKE (A393S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397574	NM_003647.3(DGKE):c.1193C>G (p.Ser398Cys)	DGKE (S398C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081902	NM_003647.3(DGKE):c.1259G>T (p.Cys420Phe)	DGKE (C420F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271722	NM_003647.3(DGKE):c.1306G>A (p.Val436Ile)	DGKE (V436I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271719	NM_003647.3(DGKE):c.1344C>A (p.Asn448Lys)	DGKE (N448K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683438	NM_003647.3(DGKE):c.1402C>T (p.Pro468Ser)	DGKE (P468S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2397571	NM_003647.3(DGKE):c.1406T>C (p.Leu469Pro)	DGKE (L469P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597075	NM_003647.3(DGKE):c.1414C>A (p.His472Asn)	DGKE (H472N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397796	NM_003647.3(DGKE):c.1499G>A (p.Arg500Gln)	DGKE (R500Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486654	NM_003647.3(DGKE):c.1580A>C (p.Gln527Pro)	DGKE (Q527P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271721	NM_003647.3(DGKE):c.1621A>G (p.Met541Val)	DGKE (M541V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2591476	NM_003647.3(DGKE):c.1655A>G (p.Asp552Gly)	DGKE (D552G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2486266	NM_003647.3(DGKE):c.1687A>T (p.Ile563Leu)	DGKE (I563L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 30