TRIM28[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 145872	GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1	LOC130065239, LOC130065240 +41 more	Copy number loss	See cases	GLikely benign
Select item 2650592	NM_005762.3(TRIM28):c.12C>T (p.Ser4=)	LOC130065238, TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650593	NM_005762.3(TRIM28):c.51T>G (p.Ser17=)	LOC130065239, TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444882	NM_005762.3(TRIM28):c.83G>T (p.Gly28Val)	LOC130065239, TRIM28 (G28V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2650594	NM_005762.3(TRIM28):c.84C>T (p.Gly28=)	LOC130065239, TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373521	NM_005762.3(TRIM28):c.95G>T (p.Arg32Leu)	LOC130065239, TRIM28 (R32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650595	NM_005762.3(TRIM28):c.114C>T (p.Ala38=)	LOC130065239, TRIM28	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2294606	NM_005762.3(TRIM28):c.119C>G (p.Ala40Gly)	LOC130065239, TRIM28 (A40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347242	NM_005762.3(TRIM28):c.130G>C (p.Ala44Pro)	LOC130065239, TRIM28 (A44P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2329138	NM_005762.3(TRIM28):c.137C>T (p.Ala46Val)	LOC130065239, TRIM28 (A46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540623	NM_005762.3(TRIM28):c.140C>T (p.Ala47Val)	LOC130065239, TRIM28 (A47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182335	NM_005762.3(TRIM28):c.155C>G (p.Ala52Gly)	LOC130065239, TRIM28 (A52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444895	NM_005762.3(TRIM28):c.161G>T (p.Gly54Val)	LOC130065239, TRIM28 (G54V)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2849324	NM_005762.3(TRIM28):c.189G>A (p.Glu63=)	LOC130065239, TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836729	NM_005762.3(TRIM28):c.192C>T (p.His64=)	LOC130065239, TRIM28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2535218	NM_005762.3(TRIM28):c.287C>T (p.Ala96Val)	LOC130065239, TRIM28 (A96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182338	NM_005762.3(TRIM28):c.323C>T (p.Ala108Val)	LOC130065239, TRIM28 (A108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2713884	NM_005762.3(TRIM28):c.341-13C>T	TRIM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777513	NM_005762.3(TRIM28):c.354C>T (p.Pro118=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1320297	NM_005762.3(TRIM28):c.380A>G (p.Lys127Arg)	TRIM28 (K127R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2710220	NM_005762.3(TRIM28):c.619G>A (p.Val207Ile)	TRIM28 (V207I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328678	NM_005762.3(TRIM28):c.641A>T (p.His214Leu)	TRIM28 (H214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027247	NM_005762.3(TRIM28):c.669C>T (p.Ser223=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036617	NM_005762.3(TRIM28):c.723G>A (p.Gln241=)	TRIM28	Single nucleotide variant (synonymous variant)	TRIM28-related disorder	GLikely benign
Select item 3328681	NM_005762.3(TRIM28):c.739G>A (p.Asp247Asn)	TRIM28 (D247N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328683	NM_005762.3(TRIM28):c.799C>G (p.His267Asp)	TRIM28 (H267D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328684	NM_005762.3(TRIM28):c.805A>C (p.Thr269Pro)	TRIM28 (T269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2808608	NM_005762.3(TRIM28):c.839+20C>T	TRIM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3049346	NM_005762.3(TRIM28):c.840-6C>T	TRIM28	Single nucleotide variant (intron variant)	TRIM28-related disorder	GBenign
Select item 1691525	NM_005762.3(TRIM28):c.991C>T (p.Gln331Ter)	TRIM28 (Q331*)	Single nucleotide variant (nonsense)	Predisposition to Wilms tumor	GPathogenic
Select item 749788	NM_005762.3(TRIM28):c.996C>T (p.His332=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715450	NM_005762.3(TRIM28):c.1020G>A (p.Lys340=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767527	NM_005762.3(TRIM28):c.1047C>T (p.Ala349=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3182333	NM_005762.3(TRIM28):c.1061A>G (p.Glu354Gly)	TRIM28 (E354G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650596	NM_005762.3(TRIM28):c.1073A>C (p.Asn358Thr)	TRIM28 (N358T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3351580	NM_005762.3(TRIM28):c.1089T>C (p.Leu363=)	TRIM28	Single nucleotide variant (synonymous variant)	TRIM28-related disorder	GLikely benign
Select item 2577908	NM_005762.3(TRIM28):c.1101+8_1101+9dup	TRIM28	Duplication (intron variant)	Wilms tumor 1	GUncertain significance
Select item 2703639	NM_005762.3(TRIM28):c.1101+9T>G	TRIM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861350	NM_005762.3(TRIM28):c.1102-5A>C	TRIM28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310120	NM_005762.3(TRIM28):c.1119C>G (p.His373Gln)	TRIM28 (H373Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2253242	NM_005762.3(TRIM28):c.1158T>G (p.His386Gln)	TRIM28 (H386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262310	NM_005762.3(TRIM28):c.1170G>A (p.Lys390=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 91860	NM_005762.3(TRIM28):c.1216+23C>T	TRIM28	Single nucleotide variant (intron variant)	Familial colorectal cancer	Gnot provided
Select item 2702331	NM_005762.3(TRIM28):c.1233G>A (p.Glu411=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330074	NM_005762.3(TRIM28):c.1235G>A (p.Arg412His)	TRIM28 (R412H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2303430	NM_005762.3(TRIM28):c.1249T>G (p.Ser417Ala)	TRIM28 (S417A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2695635	NM_005762.3(TRIM28):c.1258C>T (p.Pro420Ser)	TRIM28 (P420S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2719342	NM_005762.3(TRIM28):c.1285C>A (p.Pro429Thr)	TRIM28 (P429T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1691530	NM_005762.3(TRIM28):c.1299C>A (p.Ser433Arg)	TRIM28 (S433R)	Single nucleotide variant (missense variant)	Predisposition to Wilms tumor	GUncertain significance
Select item 3051340	NM_005762.3(TRIM28):c.1323+5G>A	TRIM28	Single nucleotide variant (intron variant)	TRIM28-related disorder	GLikely benign
Select item 2708890	NM_005762.3(TRIM28):c.1324-15C>A	TRIM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3182334	NM_005762.3(TRIM28):c.1333G>A (p.Val445Met)	TRIM28 (V445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144244	GRCh38/hg38 19q13.43(chr19:58548841-58581203)x3	CHMP2A, LOC130065240 +12 more	Copy number gain	See cases	GBenign
Select item 2798976	NM_005762.3(TRIM28):c.1361-20T>G	TRIM28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2629798	NM_005762.3(TRIM28):c.1361G>A (p.Gly454Glu)	TRIM28 (G454E)	Single nucleotide variant (missense variant)	TRIM28-related disorder	GUncertain significance
Select item 2512204	NM_005762.3(TRIM28):c.1390C>T (p.His464Tyr)	TRIM28 (H464Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650597	NM_005762.3(TRIM28):c.1392T>C (p.His464=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696037	NM_005762.3(TRIM28):c.1409+17C>T	TRIM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2522093	NM_005762.3(TRIM28):c.1417T>C (p.Ser473Pro)	TRIM28 (S473P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328680	NM_005762.3(TRIM28):c.1438G>A (p.Gly480Ser)	TRIM28 (G480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2741684	NM_005762.3(TRIM28):c.1443T>C (p.Leu481=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706323	NM_005762.3(TRIM28):c.1509A>T (p.Pro503=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879457	NM_005762.3(TRIM28):c.1581C>T (p.Ala527=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2650598	NM_005762.3(TRIM28):c.1605G>A (p.Gly535=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465010	NM_005762.3(TRIM28):c.1610C>T (p.Ala537Val)	TRIM28 (A537V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2650599	NM_005762.3(TRIM28):c.1611G>A (p.Ala537=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3182336	NM_005762.3(TRIM28):c.1616C>G (p.Ala539Gly)	TRIM28 (A539G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253151	NM_005762.3(TRIM28):c.1639C>A (p.Leu547Met)	TRIM28 (L547M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2742130	NM_005762.3(TRIM28):c.1662+4A>G	TRIM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819509	NM_005762.3(TRIM28):c.1663-20C>T	TRIM28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3328685	NM_005762.3(TRIM28):c.1672A>T (p.Thr558Ser)	TRIM28 (T558S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650600	NM_005762.3(TRIM28):c.1698T>G (p.Pro566=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712323	NM_005762.3(TRIM28):c.1699A>G (p.Thr567Ala)	TRIM28 (T567A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2893176	NM_005762.3(TRIM28):c.1771C>T (p.Arg591Cys)	TRIM28 (R591C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650601	NM_005762.3(TRIM28):c.1854G>A (p.Pro618=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557303	NM_005762.3(TRIM28):c.1885C>T (p.Arg629Cys)	TRIM28 (R629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296667	NM_005762.3(TRIM28):c.1886G>A (p.Arg629His)	TRIM28 (R629H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049245	NM_005762.3(TRIM28):c.1950C>T (p.Asp650=)	TRIM28	Single nucleotide variant (synonymous variant)	TRIM28-related disorder	GLikely benign
Select item 2862608	NM_005762.3(TRIM28):c.1983-15T>C	TRIM28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2735660	NM_005762.3(TRIM28):c.1983-5C>G	TRIM28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2719908	NM_005762.3(TRIM28):c.1983-5C>T	TRIM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707353	NM_005762.3(TRIM28):c.2028G>A (p.Lys676=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2577895	NM_005762.3(TRIM28):c.2060C>G (p.Ala687Gly)	TRIM28 (A687G)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 3341868	NM_005762.3(TRIM28):c.2070T>C (p.Thr690=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2731734	NM_005762.3(TRIM28):c.2078T>C (p.Val693Ala)	TRIM28 (V693A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536666	NM_005762.3(TRIM28):c.2093C>T (p.Pro698Leu)	TRIM28 (P698L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973190	NM_005762.3(TRIM28):c.2101C>T (p.Gln701Ter)	TRIM28 (Q701*)	Single nucleotide variant (nonsense)	Nephroblastoma	GPathogenic
Select item 2700267	NM_005762.3(TRIM28):c.2107-11A>G	TRIM28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2353565	NM_005762.3(TRIM28):c.2116C>T (p.Arg706Cys)	TRIM28 (R706C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612200	NM_005762.3(TRIM28):c.2117G>T (p.Arg706Leu)	TRIM28 (R706L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650602	NM_005762.3(TRIM28):c.2118T>C (p.Arg706=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250877	NM_005762.3(TRIM28):c.2127G>A (p.Leu709=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487430	NM_005762.3(TRIM28):c.2128G>T (p.Ala710Ser)	TRIM28 (A710S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2789323	NM_005762.3(TRIM28):c.2148C>T (p.Pro716=)	TRIM28	Single nucleotide variant (synonymous variant)	not provided	GBenign

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