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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	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)	Inborn genetic diseases +1 more	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 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)	Inborn genetic diseases +2 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 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 2397692	NM_003647.3(DGKE):c.794C>T (p.Thr265Ile)	DGKE (T265I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 2591476	NM_003647.3(DGKE):c.1655A>G (p.Asp552Gly)	DGKE (D552G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20