DGKD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
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 753345	NM_152879.3(DGKD):c.24T>A (p.Pro8=)	LOC129935890, DGKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 provided +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 743421	NM_152879.3(DGKD):c.51G>A (p.Pro17=)	DGKD, LOC129935890	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 57177	GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3	DGKD, DNAJB3 +16 more	Copy number gain	See cases	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 92031	NM_152879.3(DGKD):c.472G>A (p.Asp158Asn)	DGKD (D158N +1 more)	Single nucleotide variant (missense variant)	not provided	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 2505321	NM_152879.3(DGKD):c.541C>T (p.Arg181Cys)	DGKD (R137C +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 713676	NM_152879.3(DGKD):c.588G>A (p.Val196=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3271712	NM_152879.3(DGKD):c.949T>C (p.Ser317Pro)	DGKD (S273P +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 742340	NM_152879.3(DGKD):c.1161C>T (p.Leu387=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778050	NM_152879.3(DGKD):c.1218C>T (p.Leu406=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3060674	NM_152879.3(DGKD):c.1246C>T (p.Leu416=)	DGKD	Single nucleotide variant (synonymous variant)	DGKD-related disorder	GBenign
Select item 723500	NM_152879.3(DGKD):c.1341C>T (p.Ser447=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3056355	NM_152879.3(DGKD):c.1494G>A (p.Ser498=)	DGKD	Single nucleotide variant (synonymous variant)	DGKD-related disorder	GBenign
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 3058728	NM_152879.3(DGKD):c.1587G>A (p.Ser529=)	DGKD	Single nucleotide variant (synonymous variant)	DGKD-related disorder	GLikely benign
Select item 729795	NM_152879.3(DGKD):c.1614+10C>T	DGKD	Single nucleotide variant (intron variant)	not provided	GBenign
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 746305	NM_152879.3(DGKD):c.1680G>A (p.Ser560=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778051	NM_152879.3(DGKD):c.1704C>G (p.Pro568=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 3040094	NM_152879.3(DGKD):c.1791G>A (p.Pro597=)	DGKD	Single nucleotide variant (synonymous variant)	DGKD-related disorder	GLikely benign
Select item 809187	NM_152879.3(DGKD):c.1810C>T (p.Arg604Trp)	DGKD (R560W +1 more)	Single nucleotide variant (missense variant)	not provided	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 736235	NM_152879.3(DGKD):c.1954GAG[1] (p.Glu653del)	DGKD (E609del +2 more)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 759276	NM_152879.3(DGKD):c.1998C>T (p.Ser666=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 711355	NM_152879.3(DGKD):c.2039-4dup	DGKD	Duplication (intron variant)	not provided	GBenign
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 724328	NM_152879.3(DGKD):c.2134C>T (p.Leu712=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3271714	NM_152879.3(DGKD):c.2162A>G (p.Tyr721Cys)	DGKD (Y588C +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 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 3057852	NM_152879.3(DGKD):c.2277G>A (p.Thr759=)	DGKD	Single nucleotide variant (synonymous variant)	DGKD-related disorder	GLikely benign
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 767872	NM_152879.3(DGKD):c.2375+10A>G	DGKD	Single nucleotide variant (intron variant)	not provided	GBenign
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 3043595	NM_152879.3(DGKD):c.2541C>T (p.Ala847=)	DGKD	Single nucleotide variant (synonymous variant)	DGKD-related disorder	GLikely benign
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 872656	NM_152879.3(DGKD):c.2666T>C (p.Ile889Thr)	DGKD (I889T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3060583	NM_152879.3(DGKD):c.2673A>G (p.Leu891=)	DGKD	Single nucleotide variant (synonymous variant)	DGKD-related disorder	GBenign
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 755967	NM_152879.3(DGKD):c.2702C>T (p.Thr901Met)	DGKD (T857M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1711530	NM_152879.3(DGKD):c.2742_2743delinsAT (p.Gln915Ter)	DGKD (Q782* +2 more)	Indel (nonsense)	not provided	GUncertain significance
Select item 1711529	NM_152879.3(DGKD):c.2742G>A (p.Val914=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731509	NM_152879.3(DGKD):c.2751C>T (p.Asp917=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024944	NM_152879.3(DGKD):c.2760C>T (p.Ala920=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681234	NM_152879.3(DGKD):c.2911G>A (p.Glu971Lys)	DGKD (E838K +2 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 775065	NM_152879.3(DGKD):c.2925G>A (p.Glu975=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3271715	NM_152879.3(DGKD):c.2930A>C (p.Glu977Ala)	DGKD (E844A +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 3271713	NM_152879.3(DGKD):c.3058A>G (p.Met1020Val)	DGKD (M1020V +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 3050125	NM_152879.3(DGKD):c.3101A>G (p.Asn1034Ser)	DGKD (N1034S +2 more)	Single nucleotide variant (missense variant)	DGKD-related disorder	GBenign
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 1229606	NM_152879.3(DGKD):c.3156G>A (p.Thr1052=)	DGKD	Single nucleotide variant (synonymous variant)	not provided	GBenign

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