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

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2216125	NM_001321708.2(DGKI):c.11C>A (p.Ala4Glu)	DGKI (A4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 53