ETV3[gene] - ClinVar

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Items: 45

	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 2329105	NM_001145312.3(ETV3):c.1439G>T (p.Trp480Leu)	ETV3 (W480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276621	NM_001145312.3(ETV3):c.1312A>G (p.Ser438Gly)	ETV3 (S438G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090741	NM_001145312.3(ETV3):c.1303G>T (p.Val435Leu)	ETV3 (V435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237271	NM_001145312.3(ETV3):c.1232C>G (p.Pro411Arg)	ETV3 (P411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617163	NM_001145312.3(ETV3):c.1178T>C (p.Leu393Pro)	ETV3 (L393P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403430	NM_001145312.3(ETV3):c.1177C>T (p.Leu393Phe)	ETV3 (L393F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090740	NM_001145312.3(ETV3):c.1153G>A (p.Ala385Thr)	ETV3 (A385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276623	NM_001145312.3(ETV3):c.1102G>A (p.Val368Ile)	ETV3 (V368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090739	NM_001145312.3(ETV3):c.1093T>G (p.Ser365Ala)	ETV3 (S365A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533511	NM_001145312.3(ETV3):c.962G>A (p.Arg321His)	ETV3 (R321H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305308	NM_001145312.3(ETV3):c.860G>A (p.Ser287Asn)	ETV3 (S287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283236	NM_001145312.3(ETV3):c.817A>G (p.Ile273Val)	ETV3 (I273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219586	NM_001145312.3(ETV3):c.815C>T (p.Thr272Ile)	ETV3 (T272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475107	NM_001145312.3(ETV3):c.764G>A (p.Arg255His)	ETV3 (R255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090747	NM_001145312.3(ETV3):c.754A>G (p.Ile252Val)	ETV3 (I252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245792	NM_001145312.3(ETV3):c.745G>T (p.Val249Phe)	ETV3 (V249F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090746	NM_001145312.3(ETV3):c.742G>A (p.Ala248Thr)	ETV3 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090745	NM_001145312.3(ETV3):c.732C>G (p.His244Gln)	ETV3 (H244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349884	NM_001145312.3(ETV3):c.717G>A (p.Met239Ile)	ETV3 (M239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276619	NM_001145312.3(ETV3):c.703G>A (p.Ala235Thr)	ETV3 (A235T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370872	NM_001145312.3(ETV3):c.659T>C (p.Ile220Thr)	ETV3 (I220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513879	NM_001145312.3(ETV3):c.658A>T (p.Ile220Phe)	ETV3 (I220F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458632	NM_001145312.3(ETV3):c.635G>A (p.Arg212Lys)	ETV3 (R212K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535463	NM_001145312.3(ETV3):c.619G>C (p.Asp207His)	ETV3 (D207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090744	NM_001145312.3(ETV3):c.610C>T (p.Arg204Trp)	ETV3 (R204W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372197	NM_001145312.3(ETV3):c.607C>T (p.Arg203Cys)	ETV3 (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090743	NM_001145312.3(ETV3):c.598G>A (p.Ala200Thr)	ETV3 (A200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289593	NM_001145312.3(ETV3):c.502C>T (p.Arg168Trp)	ETV3 (R168W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276622	NM_001145312.3(ETV3):c.489T>A (p.Asp163Glu)	ETV3 (D163E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276618	NM_001145312.3(ETV3):c.446G>A (p.Arg149Gln)	ETV3 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319500	NM_001145312.3(ETV3):c.437C>T (p.Ala146Val)	ETV3 (A146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359285	NM_001145312.3(ETV3):c.232C>T (p.Arg78Cys)	ETV3 (R78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090742	NM_001145312.3(ETV3):c.173A>G (p.Gln58Arg)	ETV3 (Q58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458752	NM_001145312.3(ETV3):c.82T>G (p.Ser28Ala)	ETV3 (S28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
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 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685710	GRCh37/hg19 1q23.1(chr1:156996766-157144209)x1	ARHGEF11, ETV3 +1 more	Copy number loss	not provided	GUncertain significance
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
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

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Items: 45