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

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2206726	NM_152879.3(DGKD):c.23C>T (p.Pro8Leu)	DGKD, LOC129935890 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333294	NM_152879.3(DGKD):c.25C>G (p.Pro9Ala)	DGKD, LOC129935890 (P9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081892	NM_152879.3(DGKD):c.28C>G (p.Pro10Ala)	DGKD, LOC129935890 (P10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734116	NM_152879.3(DGKD):c.34C>A (p.Pro12Thr)	DGKD, LOC129935890 (P12T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2601256	NM_152879.3(DGKD):c.44C>G (p.Pro15Arg)	DGKD, LOC129935890 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480360	NM_152879.3(DGKD):c.49C>G (p.Pro17Ala)	DGKD, LOC129935890 (P17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464000	NM_152879.3(DGKD):c.49C>A (p.Pro17Thr)	DGKD, LOC129935890 (P17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462114	NM_152879.3(DGKD):c.98C>T (p.Pro33Leu)	DGKD, LOC129935890 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283748	NM_152879.3(DGKD):c.194A>G (p.Asn65Ser)	DGKD (N21S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081891	NM_152879.3(DGKD):c.271A>G (p.Ile91Val)	DGKD (I91V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360787	NM_152879.3(DGKD):c.446A>C (p.His149Pro)	DGKD (H105P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239975	NM_152879.3(DGKD):c.462G>C (p.Gln154His)	DGKD (Q110H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483023	NM_152879.3(DGKD):c.489G>A (p.Met163Ile)	DGKD (M119I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081896	NM_152879.3(DGKD):c.533A>G (p.Asn178Ser)	DGKD (N45S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081897	NM_152879.3(DGKD):c.649A>G (p.Thr217Ala)	DGKD (T173A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081898	NM_152879.3(DGKD):c.739G>T (p.Ala247Ser)	DGKD (A114S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081899	NM_152879.3(DGKD):c.751G>A (p.Val251Met)	DGKD (V207M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521392	NM_152879.3(DGKD):c.830C>T (p.Ser277Leu)	DGKD (S144L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287824	NM_152879.3(DGKD):c.976G>A (p.Val326Ile)	DGKD (V193I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081900	NM_152879.3(DGKD):c.980A>G (p.Asn327Ser)	DGKD (N327S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212715	NM_152879.3(DGKD):c.1028A>G (p.Lys343Arg)	DGKD (K299R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266278	NM_152879.3(DGKD):c.1147G>A (p.Val383Ile)	DGKD (V250I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608773	NM_152879.3(DGKD):c.1379C>T (p.Ser460Phe)	DGKD (S327F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374311	NM_152879.3(DGKD):c.1390G>A (p.Val464Ile)	DGKD (V331I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537600	NM_152879.3(DGKD):c.1508C>T (p.Ser503Leu)	DGKD (S459L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081881	NM_152879.3(DGKD):c.1543G>A (p.Val515Met)	DGKD (V471M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270309	NM_152879.3(DGKD):c.1586C>T (p.Ser529Leu)	DGKD (S485L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298549	NM_152879.3(DGKD):c.1655C>G (p.Thr552Ser)	DGKD (T508S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485720	NM_152879.3(DGKD):c.1765G>C (p.Asp589His)	DGKD (D545H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365245	NM_152879.3(DGKD):c.1811G>A (p.Arg604Gln)	DGKD (R471Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081882	NM_152879.3(DGKD):c.1817G>C (p.Arg606Pro)	DGKD (R562P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081883	NM_152879.3(DGKD):c.1999G>A (p.Glu667Lys)	DGKD (E534K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517224	NM_152879.3(DGKD):c.2008G>A (p.Gly670Arg)	DGKD (G626R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081884	NM_152879.3(DGKD):c.2033G>A (p.Arg678His)	DGKD (R634H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517480	NM_152879.3(DGKD):c.2126G>A (p.Arg709Gln)	DGKD (R576Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081885	NM_152879.3(DGKD):c.2128G>C (p.Asp710His)	DGKD (D666H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303821	NM_152879.3(DGKD):c.2141C>T (p.Ala714Val)	DGKD (A581V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081886	NM_152879.3(DGKD):c.2174G>A (p.Arg725Gln)	DGKD (R592Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368054	NM_152879.3(DGKD):c.2200G>A (p.Gly734Ser)	DGKD (G734S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081887	NM_152879.3(DGKD):c.2282A>G (p.Lys761Arg)	DGKD (K717R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081888	NM_152879.3(DGKD):c.2479G>A (p.Gly827Arg)	DGKD (G694R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081889	NM_152879.3(DGKD):c.2609A>G (p.Lys870Arg)	DGKD (K870R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081890	NM_152879.3(DGKD):c.2689G>A (p.Ala897Thr)	DGKD (A764T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350753	NM_152879.3(DGKD):c.2987G>A (p.Arg996Gln)	DGKD (R863Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520189	NM_152879.3(DGKD):c.3065G>A (p.Arg1022His)	DGKD (R1022H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363976	NM_152879.3(DGKD):c.3140C>G (p.Ala1047Gly)	DGKD (A1003G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222293	NM_152879.3(DGKD):c.3208G>A (p.Glu1070Lys)	DGKD (E1070K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368223	NM_152879.3(DGKD):c.3269C>T (p.Pro1090Leu)	DGKD (P1046L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321697	NM_152879.3(DGKD):c.3274C>T (p.Leu1092Phe)	DGKD (L1048F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081893	NM_152879.3(DGKD):c.3275T>A (p.Leu1092His)	DGKD (L959H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081894	NM_152879.3(DGKD):c.3310G>A (p.Val1104Met)	DGKD (V1060M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081895	NM_152879.3(DGKD):c.3326C>T (p.Ala1109Val)	DGKD (A1109V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220823	NM_152879.3(DGKD):c.3554A>G (p.Lys1185Arg)	DGKD (K1141R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488091	NM_152879.3(DGKD):c.3637G>C (p.Glu1213Gln)	DGKD (E1213Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 54