DGKI[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2292174	NM_001321708.2(DGKI):c.3131A>G (p.Asn1044Ser)	DGKI (N1044S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460473	NM_001321708.2(DGKI):c.3125G>A (p.Arg1042His)	DGKI (R742H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540884	NM_001321708.2(DGKI):c.3124C>A (p.Arg1042Ser)	DGKI (R1042S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348986	NM_001321708.2(DGKI):c.3124C>T (p.Arg1042Cys)	DGKI (R1042C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081942	NM_001321708.2(DGKI):c.3109G>A (p.Ala1037Thr)	DGKI (A1037T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538469	NM_001321708.2(DGKI):c.2959G>A (p.Gly987Ser)	DGKI (G664S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369887	NM_001321708.2(DGKI):c.2916C>A (p.Asp972Glu)	DGKI (D672E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081941	NM_001321708.2(DGKI):c.2890G>A (p.Gly964Arg)	DGKI (G664R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 3271736	NM_001321708.2(DGKI):c.2723C>T (p.Ser908Phe)	DGKI (S916F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081939	NM_001321708.2(DGKI):c.2702A>G (p.Asp901Gly)	DGKI (D901G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240129	NM_001321708.2(DGKI):c.2694G>C (p.Glu898Asp)	DGKI (E598D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081938	NM_001321708.2(DGKI):c.2677A>G (p.Ile893Val)	DGKI (I593V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317100	NM_001321708.2(DGKI):c.2661C>G (p.Asp887Glu)	DGKI (D887E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081936	NM_001321708.2(DGKI):c.2654T>A (p.Leu885Gln)	DGKI (L585Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271735	NM_001321708.2(DGKI):c.2609C>T (p.Ser870Leu)	DGKI (S588L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477048	NM_001321708.2(DGKI):c.2425C>T (p.Arg809Trp)	DGKI (R809W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341608	NM_001321708.2(DGKI):c.2276G>A (p.Arg759His)	DGKI (R477H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395321	NM_001321708.2(DGKI):c.2266C>A (p.Leu756Ile)	DGKI (L774I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305884	NM_001321708.2(DGKI):c.2212G>A (p.Gly738Arg)	DGKI (G438R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318472	NM_001321708.2(DGKI):c.2207A>G (p.Tyr736Cys)	DGKI (Y436C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293997	NM_001321708.2(DGKI):c.2180G>A (p.Arg727Gln)	DGKI (R427Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081934	NM_001321708.2(DGKI):c.2149C>G (p.Pro717Ala)	DGKI (P738A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081933	NM_001321708.2(DGKI):c.2101A>G (p.Met701Val)	DGKI (M701V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491745	NM_001321708.2(DGKI):c.2031G>C (p.Met677Ile)	DGKI (M377I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081931	NM_001321708.2(DGKI):c.1994G>A (p.Arg665Gln)	DGKI (R365Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081929	NM_001321708.2(DGKI):c.1664A>G (p.Asn555Ser)	DGKI (N255S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081927	NM_001321708.2(DGKI):c.1085G>A (p.Arg362His)	DGKI (R362H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282264	NM_001321708.2(DGKI):c.778G>A (p.Glu260Lys)	DGKI (E260K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081948	NM_001321708.2(DGKI):c.769C>T (p.Arg257Cys)	DGKI (R257C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081947	NM_001321708.2(DGKI):c.765C>G (p.His255Gln)	DGKI (H255Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081946	NM_001321708.2(DGKI):c.682A>G (p.Ile228Val)	DGKI (I228V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271734	NM_001321708.2(DGKI):c.649G>C (p.Val217Leu)	DGKI (V217L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081945	NM_001321708.2(DGKI):c.491G>C (p.Arg164Thr)	DGKI (R164T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405335	NM_001321708.2(DGKI):c.431A>G (p.His144Arg)	DGKI (H144R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 3081943	NM_001321708.2(DGKI):c.345C>G (p.Asp115Glu)	DGKI (D115E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318835	NM_001321708.2(DGKI):c.329G>A (p.Gly110Asp)	DGKI (G110D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327166	NM_001321708.2(DGKI):c.312C>G (p.Asp104Glu)	DGKI (D104E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2228896	NM_001321708.2(DGKI):c.274G>T (p.Ala92Ser)	DGKI (A92S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081940	NM_001321708.2(DGKI):c.272G>T (p.Gly91Val)	DGKI (G91V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081937	NM_001321708.2(DGKI):c.268C>T (p.Arg90Trp)	DGKI (R90W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081935	NM_001321708.2(DGKI):c.239G>C (p.Cys80Ser)	DGKI (C80S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271737	NM_001321708.2(DGKI):c.229G>A (p.Gly77Arg)	DGKI (G77R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459432	NM_001321708.2(DGKI):c.215G>C (p.Ser72Thr)	DGKI (S72T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081932	NM_001321708.2(DGKI):c.209G>A (p.Ser70Asn)	DGKI (S70N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470203	NM_001321708.2(DGKI):c.205A>G (p.Ser69Gly)	DGKI (S69G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081930	NM_001321708.2(DGKI):c.190G>A (p.Gly64Arg)	DGKI (G64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288675	NM_001321708.2(DGKI):c.189A>T (p.Lys63Asn)	DGKI (K63N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495420	NM_001321708.2(DGKI):c.175G>A (p.Ala59Thr)	DGKI (A59T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081928	NM_001321708.2(DGKI):c.130C>G (p.Pro44Ala)	DGKI (P44A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620961	NM_001321708.2(DGKI):c.107C>A (p.Pro36His)	DGKI (P36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081949	NM_001321708.2(DGKI):c.95G>A (p.Ser32Asn)	DGKI (S32N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543571	NM_001321708.2(DGKI):c.83C>G (p.Ala28Gly)	DGKI (A28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557013	NM_001321708.2(DGKI):c.59C>T (p.Ala20Val)	DGKI (A20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599367	NM_001321708.2(DGKI):c.53G>C (p.Gly18Ala)	DGKI (G18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402999	NM_001321708.2(DGKI):c.44C>A (p.Ala15Glu)	DGKI (A15E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081944	NM_001321708.2(DGKI):c.38T>A (p.Leu13Gln)	DGKI (L13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271738	NM_001321708.2(DGKI):c.20G>T (p.Gly7Val)	DGKI (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216125	NM_001321708.2(DGKI):c.11C>A (p.Ala4Glu)	DGKI (A4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527403	GRCh37/hg19 7q33(chr7:136876370-137804126)	AKR1D1, CREB3L2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	BPGM, SLC35B4 +105 more	Copy number loss	Abnormal facial shape +7 more	GPathogenic
Select item 979800	GRCh37/hg19 7q33(chr7:137179553-137624697)x3	DGKI, CREB3L2	Copy number gain	not provided	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815042	GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	TRIM24, PARP12 +20 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 689118	GRCh37/hg19 7q33(chr7:134648448-137942208)x1	AGBL3, AKR1D1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 688753	GRCh37/hg19 7q33(chr7:137183506-137611567)x3	CREB3L2, DGKI	Copy number gain	not provided	GUncertain significance
Select item 688112	GRCh37/hg19 7q33(chr7:137180374-137611567)x3	CREB3L2, DGKI	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563417	GRCh37/hg19 7q33(chr7:133230189-137972605)x1	AKR1B10, STRA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 563336	GRCh37/hg19 7q33(chr7:136999882-137322876)x3	PTN, DGKI	Copy number gain	not provided	GUncertain significance

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