ETV4[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 148621	GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150167	GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3	ARL4D, BRCA1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 154024	GRCh38/hg38 17q21.31(chr17:43322528-43849385)x3	ARL4D, CD300LG +33 more	Copy number gain	See cases	GLikely benign
Select item 148000	GRCh38/hg38 17q21.31(chr17:43387123-43865083)x3	ARL4D, CD300LG +26 more	Copy number gain	See cases	GUncertain significance
Select item 2408613	NM_001079675.5(ETV4):c.1427T>C (p.Phe476Ser)	DHX8, ETV4 (F437S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395711	NM_001079675.5(ETV4):c.1393T>C (p.Tyr465His)	DHX8, ETV4 (Y460H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090765	NM_001079675.5(ETV4):c.1388C>G (p.Pro463Arg)	DHX8, ETV4 (P424R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090764	NM_001079675.5(ETV4):c.1351G>A (p.Glu451Lys)	DHX8, ETV4 (E174K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276629	NM_001079675.5(ETV4):c.1336C>T (p.Arg446Trp)	DHX8, ETV4 (R407W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647814	NM_001079675.5(ETV4):c.1309C>T (p.Arg437Cys)	DHX8, ETV4 (R160C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 732059	NM_001079675.5(ETV4):c.1298C>T (p.Pro433Leu)	DHX8, ETV4 (P156L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1344611	NM_001079675.5(ETV4):c.1244G>A (p.Arg415His)	DHX8, ETV4 (R138H +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1243936	NM_001079675.5(ETV4):c.1231-137A>G	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266831	NM_001079675.5(ETV4):c.1129-107C>T	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2458298	NM_001079675.5(ETV4):c.1078A>G (p.Ile360Val)	DHX8, ETV4 (I355V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090763	NM_001079675.5(ETV4):c.1015G>A (p.Gly339Ser)	DHX8, ETV4 (G339S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235670	NM_001079675.5(ETV4):c.1004A>G (p.Tyr335Cys)	DHX8, ETV4 (Y334C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522754	NM_001079675.5(ETV4):c.998C>T (p.Pro333Leu)	DHX8, ETV4 (P56L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247343	NM_001079675.5(ETV4):c.980G>A (p.Gly327Asp)	DHX8, ETV4 (G322D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090772	NM_001079675.5(ETV4):c.934G>C (p.Val312Leu)	DHX8, ETV4 (V307L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357803	NM_001079675.5(ETV4):c.934G>A (p.Val312Ile)	DHX8, ETV4 (V307I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323810	NM_001079675.5(ETV4):c.896A>G (p.Tyr299Cys)	DHX8, ETV4 (Y22C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090771	NM_001079675.5(ETV4):c.885G>C (p.Met295Ile)	DHX8, ETV4 (M18I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487879	NM_001079675.5(ETV4):c.877G>T (p.Gly293Trp)	DHX8, ETV4 (G16W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1260653	NM_001079675.5(ETV4):c.812-429CG[3]	DHX8, ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1257943	NM_001079675.5(ETV4):c.812-428G>A	ETV4, DHX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295940	NM_001079675.5(ETV4):c.812-454AC[9]	DHX8, ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1241567	NM_001079675.5(ETV4):c.812-454A>T	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090770	NM_001079675.5(ETV4):c.791C>T (p.Thr264Met)	DHX8, ETV4 (T225M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291381	NM_001079675.5(ETV4):c.716A>G (p.Gln239Arg)	DHX8, ETV4 (Q200R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510714	NM_001079675.5(ETV4):c.694C>A (p.Pro232Thr)	DHX8, ETV4 (P193T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481988	NM_001079675.5(ETV4):c.619G>A (p.Ala207Thr)	DHX8, ETV4 (A168T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372870	NM_001079675.5(ETV4):c.605G>A (p.Arg202Gln)	DHX8, ETV4 (R202Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532242	NM_001079675.5(ETV4):c.604C>T (p.Arg202Trp)	DHX8, ETV4 (R201W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779021	NM_001079675.5(ETV4):c.583T>A (p.Phe195Ile)	DHX8, ETV4 (F156I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2335522	NM_001079675.5(ETV4):c.573T>G (p.Ile191Met)	DHX8, ETV4 (I191M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739778	NM_001079675.5(ETV4):c.549C>T (p.Ser183=)	DHX8, ETV4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1249580	NM_001079675.5(ETV4):c.546-91G>A	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052794	NM_001079675.5(ETV4):c.523C>A (p.His175Asn)	DHX8, ETV4 (H136N +2 more)	Single nucleotide variant (missense variant +1 more)	ETV4-related disorder	GLikely benign
Select item 2238985	NM_001079675.5(ETV4):c.503C>T (p.Thr168Ile)	DHX8, ETV4 (T168I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383129	NM_001079675.5(ETV4):c.379T>C (p.Ser127Pro)	DHX8, ETV4 (S88P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090767	NM_001079675.5(ETV4):c.346C>T (p.Leu116Phe)	DHX8, ETV4 (L116F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732873	NM_001079675.5(ETV4):c.343C>T (p.Pro115Ser)	DHX8, ETV4 (P76S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2294722	NM_001079675.5(ETV4):c.308G>A (p.Arg103His)	DHX8, ETV4 (R102H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335920	NM_001079675.5(ETV4):c.285C>G (p.Ile95Met)	DHX8, ETV4 (I94M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768888	NM_001079675.5(ETV4):c.278C>G (p.Thr93Ser)	DHX8, ETV4 (T54S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1241207	NM_001079675.5(ETV4):c.256+285GTTT[5]	DHX8, ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1274156	NM_001079675.5(ETV4):c.256+103C>A	ETV4, DHX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2278832	NM_001079675.5(ETV4):c.223G>A (p.Glu75Lys)	DHX8, ETV4 (E36K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411036	NM_001079675.5(ETV4):c.217A>G (p.Ser73Gly)	DHX8, ETV4 (S34G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777184	NM_001079675.5(ETV4):c.155-8C>T	ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258836	NM_001079675.5(ETV4):c.155-117T>C	ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295160	NM_001079675.5(ETV4):c.154+40AC[24]	ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1286639	NM_001079675.5(ETV4):c.154+40AC[22]	ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1221112	NM_001079675.5(ETV4):c.154+40AC[21]	ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1220792	NM_001079675.5(ETV4):c.154+40AC[23]	ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1239916	NM_001079675.5(ETV4):c.154+40AC[19]	ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 3348143	NM_001079675.5(ETV4):c.154+9C>A	ETV4	Single nucleotide variant (intron variant)	ETV4-related disorder	GLikely benign
Select item 3090766	NM_001079675.5(ETV4):c.149C>T (p.Ser50Phe)	ETV4 (S11F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355915	NM_001079675.5(ETV4):c.84G>T (p.Leu28Phe)	ETV4 (L28F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1295936	NM_001079675.5(ETV4):c.61-5C>A	ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090769	NM_001079675.5(ETV4):c.50C>T (p.Thr17Ile)	ETV4 (T17I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090768	NM_001079675.5(ETV4):c.50C>G (p.Thr17Ser)	ETV4 (T17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552864	NM_001079675.5(ETV4):c.47A>T (p.Tyr16Phe)	ETV4 (Y16F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475271	NM_001079675.5(ETV4):c.46T>C (p.Tyr16His)	ETV4 (Y16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046344	NM_001079675.5(ETV4):c.16A>T (p.Lys6Ter)	ETV4 (K6*)	Single nucleotide variant (nonsense +1 more)	ETV4-related disorder	GLikely benign
Select item 2283680	NM_001079675.5(ETV4):c.8G>A (p.Arg3Gln)	ETV4 (R3Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1256771	NM_001079675.5(ETV4):c.-51-176C>T	ETV4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1281545	NM_001079675.5(ETV4):c.-52+205AC[24]	ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1225722	NM_001079675.5(ETV4):c.-52+205AC[25]	ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1254814	NM_001079675.5(ETV4):c.-52+205AC[21]	ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1235913	NM_001079675.5(ETV4):c.-52+205AC[22]	ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 3243158	NC_000017.10:g.(?_41277268)_(41836109_?)dup	ARL4D, BRCA1 +7 more	Duplication	not provided	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1526577	GRCh37/hg19 17q21.31(chr17:41202796-41974964)	ARL4D, BRCA1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 980720	GRCh37/hg19 17q21.31(chr17:41221565-41775043)x3	ARL4D, BRCA1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815937	GRCh37/hg19 17q21.31(chr17:41399892-42125780)x3	ARL4D, CD300LG +13 more	Copy number gain	not provided	GUncertain significance
Select item 815936	GRCh37/hg19 17q21.31(chr17:41399892-41736186)x3	ARL4D, DHX8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685524	GRCh37/hg19 17q21.31(chr17:41440122-41745139)x3	ARL4D, DHX8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 584346	NC_000017.10:g.(?_41276016)_(41635727_?)dup	ARL4D, BRCA1 +5 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 564447	GRCh37/hg19 17q21.31(chr17:41540257-42044249)x1	CD300LG, CFAP97D1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 547109	GRCh37/hg19 17q21.31(chr17:41464491-41835873)x3	ARL4D, DHX8 +3 more	Copy number gain	not provided	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 89