TRIM46[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 2598443	NM_025058.5(TRIM46):c.32C>A (p.Thr11Asn)	TRIM46 (T11N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2480410	NM_025058.5(TRIM46):c.78C>A (p.Asn26Lys)	TRIM46 (N13K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2477152	NM_025058.5(TRIM46):c.202G>C (p.Gly68Arg)	TRIM46 (G68R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3182494	NM_025058.5(TRIM46):c.254C>T (p.Ser85Phe)	TRIM46 (S62F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600886	NM_025058.5(TRIM46):c.260G>A (p.Arg87His)	TRIM46 (R116H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328767	NM_025058.5(TRIM46):c.268C>A (p.Arg90Ser)	TRIM46 (R119S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3182495	NM_025058.5(TRIM46):c.300C>A (p.Asp100Glu)	TRIM46 (D129E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483867	NM_025058.5(TRIM46):c.341C>T (p.Pro114Leu)	TRIM46 (P114L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328766	NM_025058.5(TRIM46):c.368C>T (p.Pro123Leu)	TRIM46 (P100L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344281	NM_025058.5(TRIM46):c.424C>T (p.Arg142Trp)	TRIM46 (R142W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182496	NM_025058.5(TRIM46):c.464G>A (p.Arg155His)	TRIM46 (R184H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182498	NM_025058.5(TRIM46):c.860C>A (p.Thr287Lys)	TRIM46 (T274K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408638	NM_025058.5(TRIM46):c.860C>T (p.Thr287Met)	TRIM46 (T264M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482934	NM_025058.5(TRIM46):c.923A>C (p.Gln308Pro)	TRIM46 (Q308P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328765	NM_025058.5(TRIM46):c.953G>A (p.Arg318Gln)	TRIM46 (R305Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460348	NM_025058.5(TRIM46):c.1033C>T (p.Arg345Cys)	TRIM46 (R322C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521716	NM_025058.5(TRIM46):c.1042G>A (p.Ala348Thr)	TRIM46 (A222T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328762	NM_025058.5(TRIM46):c.1171C>G (p.Arg391Gly)	TRIM46 (R391G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397218	NM_025058.5(TRIM46):c.1172G>A (p.Arg391Gln)	TRIM46 (R368Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547446	NM_025058.5(TRIM46):c.1183G>A (p.Ala395Thr)	TRIM46 (A372T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182486	NM_025058.5(TRIM46):c.1198C>T (p.Arg400Trp)	TRIM46 (R377W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615713	NM_025058.5(TRIM46):c.1363C>G (p.His455Asp)	TRIM46 (H442D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773639	NM_025058.5(TRIM46):c.1383C>T (p.His461=)	TRIM46	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3328761	NM_025058.5(TRIM46):c.1403G>A (p.Arg468His)	TRIM46 (R342H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523969	NM_025058.5(TRIM46):c.1417G>A (p.Ala473Thr)	TRIM46 (A450T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461094	NM_025058.5(TRIM46):c.1445G>A (p.Arg482Gln)	TRIM46 (R469Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182488	NM_025058.5(TRIM46):c.1592T>G (p.Leu531Arg)	TRIM46 (L405R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3182489	NM_025058.5(TRIM46):c.1606G>A (p.Asp536Asn)	TRIM46 (D513N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2495635	NM_025058.5(TRIM46):c.1613G>A (p.Arg538His)	TRIM46 (R412H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3182490	NM_025058.5(TRIM46):c.1621G>A (p.Ala541Thr)	TRIM46 (A415T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3182491	NM_025058.5(TRIM46):c.1628G>A (p.Arg543Gln)	TRIM46 (R417Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328768	NM_025058.5(TRIM46):c.1705C>T (p.Arg569Trp)	TRIM46 (R556W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328764	NM_025058.5(TRIM46):c.1789G>A (p.Ala597Thr)	TRIM46 (A574T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3328769	NM_025058.5(TRIM46):c.1944G>A (p.Ser648=)	TRIM46 (R549H)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2327708	NM_025058.5(TRIM46):c.2011G>A (p.Ala671Thr)	TRIM46 (A658T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328763	NM_025058.5(TRIM46):c.2044G>A (p.Gly682Ser)	TRIM46 (G669S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3182492	NM_025058.5(TRIM46):c.2102G>T (p.Arg701Leu)	TRIM46 (R678L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250361	NM_025058.5(TRIM46):c.2141T>G (p.Leu714Trp)	TRIM46 (L691W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182493	NM_025058.5(TRIM46):c.2191A>G (p.Ile731Val)	TRIM46 (I605V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524406	NM_025058.5(TRIM46):c.2243G>T (p.Arg748Met)	TRIM46 (R622M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	BGLAP, BNIPL +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57