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

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Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2311293	NM_005215.4(DCC):c.49C>G (p.Leu17Val)	DCC (L17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310734	NM_005215.4(DCC):c.225G>C (p.Lys75Asn)	DCC (K75N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386158	NM_005215.4(DCC):c.250G>A (p.Gly84Arg)	DCC (G84R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2333224	NM_005215.4(DCC):c.263G>C (p.Arg88Thr)	DCC (R88T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483635	NM_005215.4(DCC):c.439G>A (p.Glu147Lys)	DCC (E147K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080407	NM_005215.4(DCC):c.443C>A (p.Ser148Tyr)	DCC (S148Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2206998	NM_005215.4(DCC):c.526A>G (p.Asn176Asp)	DCC (N176D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615298	NM_005215.4(DCC):c.581C>T (p.Ser194Phe)	DCC (S194F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985551	NM_005215.4(DCC):c.643C>T (p.Arg215Ter)	DCC (R215*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3271030	NM_005215.4(DCC):c.745G>T (p.Val249Leu)	DCC (V249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080408	NM_005215.4(DCC):c.851C>G (p.Ser284Cys)	DCC (S284C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247670	NM_005215.4(DCC):c.898G>T (p.Val300Leu)	DCC (V300L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304010	NM_005215.4(DCC):c.986-3C>T	DCC	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2508534	NM_005215.4(DCC):c.994T>C (p.Trp332Arg)	DCC (W332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272564	NM_005215.4(DCC):c.1081A>G (p.Thr361Ala)	DCC (T361A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080388	NM_005215.4(DCC):c.1156C>G (p.Arg386Gly)	DCC (R386G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487046	NM_005215.4(DCC):c.1234A>G (p.Ser412Gly)	DCC (S412G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300440	NM_005215.4(DCC):c.1247T>G (p.Ile416Ser)	DCC (I416S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217001	NM_005215.4(DCC):c.1274C>T (p.Ser425Phe)	DCC (S425F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276265	NM_005215.4(DCC):c.1436C>T (p.Thr479Ile)	DCC (T479I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276190	NM_005215.4(DCC):c.1438A>T (p.Thr480Ser)	DCC (T480S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 786342	NM_005215.4(DCC):c.1457A>T (p.Gln486Leu)	DCC (Q486L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign
Select item 2470784	NM_005215.4(DCC):c.1546C>A (p.Pro516Thr)	DCC (P516T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244436	NM_005215.4(DCC):c.1660G>C (p.Ala554Pro)	DCC (A554P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543880	NM_005215.4(DCC):c.1663A>G (p.Asn555Asp)	DCC (N555D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375058	NM_005215.4(DCC):c.1666G>A (p.Gly556Ser)	DCC (G556S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080391	NM_005215.4(DCC):c.1748A>G (p.Tyr583Cys)	DCC (Y583C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483955	NM_005215.4(DCC):c.1784G>T (p.Ser595Ile)	DCC (S595I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466537	NM_005215.4(DCC):c.1864C>T (p.Pro622Ser)	DCC (P622S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260223	NM_005215.4(DCC):c.1919A>C (p.Lys640Thr)	DCC (K640T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2233415	NM_005215.4(DCC):c.1981C>G (p.Arg661Gly)	DCC (R661G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299211	NM_005215.4(DCC):c.2021T>G (p.Leu674Arg)	DCC (L674R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387616	NM_005215.4(DCC):c.2033A>G (p.Asn678Ser)	DCC (N678S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3080392	NM_005215.4(DCC):c.2099C>T (p.Thr700Ile)	DCC (T700I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985049	NM_005215.4(DCC):c.2134_2135dup (p.Ala713fs)	DCC (A713fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2387342	NM_005215.4(DCC):c.2185C>G (p.Pro729Ala)	DCC (P729A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080393	NM_005215.4(DCC):c.2278A>G (p.Ile760Val)	DCC (I760V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080394	NM_005215.4(DCC):c.2449A>G (p.Ile817Val)	DCC (I817V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080395	NM_005215.4(DCC):c.2468C>T (p.Pro823Leu)	DCC (P823L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266052	NM_005215.4(DCC):c.2510T>G (p.Val837Gly)	DCC (V837G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283424	NM_005215.4(DCC):c.2518C>T (p.Leu840Phe)	DCC (L840F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473854	NM_005215.4(DCC):c.2540del (p.Pro847fs)	DCC (P847fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3080396	NM_005215.4(DCC):c.2941A>T (p.Ile981Phe)	DCC (I981F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080397	NM_005215.4(DCC):c.2986A>G (p.Ile996Val)	DCC (I996V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270699	NM_005215.4(DCC):c.3053A>G (p.Tyr1018Cys)	DCC (Y1018C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271031	NM_005215.4(DCC):c.3061C>G (p.Arg1021Gly)	DCC (R1021G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229313	NM_005215.4(DCC):c.3061C>T (p.Arg1021Ter)	DCC (R1021*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3080398	NM_005215.4(DCC):c.3073C>G (p.Arg1025Gly)	DCC (R1025G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285702	NM_005215.4(DCC):c.3181G>A (p.Gly1061Ser)	DCC (G1061S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366933	NM_005215.4(DCC):c.3238A>G (p.Ile1080Val)	DCC (I1080V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3080399	NM_005215.4(DCC):c.3370C>T (p.Arg1124Cys)	DCC (R1124C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2231833	NM_005215.4(DCC):c.3392+4G>A	DCC	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2225671	NM_005215.4(DCC):c.3393-3T>C	DCC	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3271029	NM_005215.4(DCC):c.3397C>T (p.Arg1133Trp)	DCC (R1133W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403204	NM_005215.4(DCC):c.3409A>G (p.Ser1137Gly)	DCC (S1137G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401610	NM_005215.4(DCC):c.3427G>A (p.Gly1143Ser)	DCC (G1143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080402	NM_005215.4(DCC):c.3591A>T (p.Gln1197His)	DCC (Q1197H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206628	NM_005215.4(DCC):c.3592C>A (p.Leu1198Met)	DCC (L1198M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080403	NM_005215.4(DCC):c.3691C>G (p.Arg1231Gly)	DCC (R1231G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400921	NM_005215.4(DCC):c.3709C>A (p.Pro1237Thr)	DCC (P1237T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080404	NM_005215.4(DCC):c.3811G>A (p.Gly1271Arg)	DCC (G1271R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330503	NM_005215.4(DCC):c.3943C>G (p.Pro1315Ala)	DCC (P1315A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375859	NM_005215.4(DCC):c.4028G>A (p.Arg1343His)	DCC (R1343H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3080405	NM_005215.4(DCC):c.4210G>C (p.Glu1404Gln)	DCC (E1404Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 64