TRIM47[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 2355150	NM_033452.3(TRIM47):c.1742G>A (p.Arg581His)	TRIM47 (R581H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618597	NM_033452.3(TRIM47):c.1736G>A (p.Arg579Gln)	TRIM47 (R579Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182504	NM_033452.3(TRIM47):c.1717C>T (p.Arg573Trp)	TRIM47 (R573W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478185	NM_033452.3(TRIM47):c.1699G>C (p.Gly567Arg)	TRIM47 (G567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182503	NM_033452.3(TRIM47):c.1696G>A (p.Asp566Asn)	TRIM47 (D566N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526136	NM_033452.3(TRIM47):c.1663G>A (p.Ala555Thr)	TRIM47 (A555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182502	NM_033452.3(TRIM47):c.1579C>T (p.Arg527Cys)	TRIM47 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606797	NM_033452.3(TRIM47):c.1575T>A (p.Asn525Lys)	TRIM47 (N525K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363636	NM_033452.3(TRIM47):c.1562G>A (p.Cys521Tyr)	TRIM47 (C521Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337968	NM_033452.3(TRIM47):c.1544G>A (p.Arg515His)	TRIM47 (R515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466396	NM_033452.3(TRIM47):c.1498G>A (p.Glu500Lys)	TRIM47 (E500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182500	NM_033452.3(TRIM47):c.1390C>T (p.Arg464Cys)	TRIM47 (R464C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508169	NM_033452.3(TRIM47):c.1303G>A (p.Asp435Asn)	TRIM47 (D435N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223284	NM_033452.3(TRIM47):c.1253C>T (p.Ala418Val)	TRIM47 (A418V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182499	NM_033452.3(TRIM47):c.1225G>A (p.Glu409Lys)	TRIM47 (E409K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519409	NM_033452.3(TRIM47):c.1123G>A (p.Val375Met)	TRIM47 (V375M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409631	NM_033452.3(TRIM47):c.1105G>A (p.Val369Met)	TRIM47 (V369M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379500	NM_033452.3(TRIM47):c.1012G>T (p.Ala338Ser)	TRIM47 (A338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182516	NM_033452.3(TRIM47):c.995T>G (p.Phe332Cys)	TRIM47 (F332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182514	NM_033452.3(TRIM47):c.938G>A (p.Arg313His)	TRIM47 (R313H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182513	NM_033452.3(TRIM47):c.928C>G (p.Gln310Glu)	TRIM47 (Q310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272383	NM_033452.3(TRIM47):c.925G>C (p.Glu309Gln)	TRIM47 (E309Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273985	NM_033452.3(TRIM47):c.916C>G (p.Arg306Gly)	TRIM47 (R306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182512	NM_033452.3(TRIM47):c.913C>T (p.Arg305Trp)	TRIM47 (R305W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407358	NM_033452.3(TRIM47):c.892G>C (p.Gly298Arg)	TRIM47 (G298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648282	NM_033452.3(TRIM47):c.867C>T (p.Ile289=)	TRIM47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2474611	NM_033452.3(TRIM47):c.853G>C (p.Val285Leu)	TRIM47 (V285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182511	NM_033452.3(TRIM47):c.821C>G (p.Ala274Gly)	TRIM47 (A274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341749	NM_033452.3(TRIM47):c.806G>A (p.Arg269Gln)	TRIM47 (R269Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2292303	NM_033452.3(TRIM47):c.781G>A (p.Val261Ile)	TRIM47 (V261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379681	NM_033452.3(TRIM47):c.776C>T (p.Ala259Val)	TRIM47 (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182510	NM_033452.3(TRIM47):c.722A>G (p.Glu241Gly)	TRIM47 (E241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182509	NM_033452.3(TRIM47):c.681G>C (p.Glu227Asp)	TRIM47 (E227D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324391	NM_033452.3(TRIM47):c.676G>T (p.Ala226Ser)	TRIM47 (A226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182508	NM_033452.3(TRIM47):c.590G>T (p.Arg197Leu)	TRIM47 (R197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182507	NM_033452.3(TRIM47):c.581G>T (p.Arg194Leu)	TRIM47 (R194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224797	NM_033452.3(TRIM47):c.539G>C (p.Ser180Thr)	TRIM47 (S180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515977	NM_033452.3(TRIM47):c.524G>T (p.Arg175Leu)	TRIM47 (R175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182506	NM_033452.3(TRIM47):c.506G>A (p.Arg169His)	TRIM47 (R169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389664	NM_033452.3(TRIM47):c.473C>T (p.Pro158Leu)	TRIM47 (P158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182505	NM_033452.3(TRIM47):c.449C>A (p.Ser150Tyr)	TRIM47 (S150Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405850	NM_033452.3(TRIM47):c.433C>T (p.Leu145Phe)	TRIM47 (L145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280990	NM_033452.3(TRIM47):c.383G>T (p.Arg128Leu)	TRIM47 (R128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293086	NM_033452.3(TRIM47):c.382C>T (p.Arg128Cys)	TRIM47 (R128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373197	NM_033452.3(TRIM47):c.380T>A (p.Val127Glu)	TRIM47 (V127E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612587	NM_033452.3(TRIM47):c.278C>T (p.Pro93Leu)	TRIM47 (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558239	NM_033452.3(TRIM47):c.244G>T (p.Gly82Cys)	TRIM47 (G82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218610	NM_033452.3(TRIM47):c.151G>A (p.Ala51Thr)	TRIM47 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285920	NM_033452.3(TRIM47):c.6C>G (p.Asp2Glu)	TRIM47 (D2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243041	NC_000017.10:g.(?_73720784)_(73975154_?)dup	FBF1, GALK1 +9 more	Duplication	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, CARD14 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687680	GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3	ACOX1, FBF1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564473	GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	CASKIN2, CDK3 +21 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443158	GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3	ACOX1, FBF1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253996	GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3	SRP68, TRIM65 +12 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 68