ETV5[gene] - ClinVar

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

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 148198	GRCh38/hg38 3q27.2-27.3(chr3:186009008-186554890)x1	CRYGS, DGKG +24 more	Copy number loss	See cases	GUncertain significance
Select item 3035615	NM_004454.3(ETV5):c.1470C>T (p.Pro490=)	ETV5	Single nucleotide variant (synonymous variant)	ETV5-related disorder	GLikely benign
Select item 2328198	NM_004454.3(ETV5):c.1469C>T (p.Pro490Leu)	ETV5 (P490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785072	NM_004454.3(ETV5):c.1446G>A (p.Pro482=)	ETV5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2379905	NM_004454.3(ETV5):c.1414G>A (p.Glu472Lys)	ETV5 (E472K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785073	NM_004454.3(ETV5):c.1399C>T (p.Leu467=)	ETV5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785074	NM_004454.3(ETV5):c.1395G>A (p.Pro465=)	ETV5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1263860	NM_004454.3(ETV5):c.1312-62C>T	ETV5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282711	NM_004454.3(ETV5):c.1210-176C>A	ETV5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179924	NM_004454.3(ETV5):c.1209+51G>T	ETV5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090773	NM_004454.3(ETV5):c.1159A>G (p.Ile387Val)	ETV5 (I387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613812	NM_004454.3(ETV5):c.971G>C (p.Gly324Ala)	ETV5 (G324A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183881	NM_004454.3(ETV5):c.970+241A>G	ETV5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3276632	NM_004454.3(ETV5):c.965A>G (p.His322Arg)	ETV5 (H322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385976	NM_004454.3(ETV5):c.868A>G (p.Met290Val)	ETV5 (M290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090776	NM_004454.3(ETV5):c.776C>G (p.Pro259Arg)	ETV5 (P259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471073	NM_004454.3(ETV5):c.734G>A (p.Arg245Gln)	ETV5 (R245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315407	NM_004454.3(ETV5):c.704T>C (p.Val235Ala)	ETV5 (V235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488305	NM_004454.3(ETV5):c.631C>G (p.Gln211Glu)	ETV5, ETV5-AS1 (Q211E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801782	NM_004454.3(ETV5):c.536A>C (p.His179Pro)	ETV5, ETV5-AS1 (H179P)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GPathogenic
Select item 2558928	NM_004454.3(ETV5):c.455C>A (p.Pro152Gln)	ETV5, ETV5-AS1 (P152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780903	NM_004454.3(ETV5):c.445C>G (p.Leu149Val)	ETV5, ETV5-AS1 (L149V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3276630	NM_004454.3(ETV5):c.415A>G (p.Thr139Ala)	ETV5, ETV5-AS1 (T139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090775	NM_004454.3(ETV5):c.386C>G (p.Ser129Cys)	ETV5, ETV5-AS1 (S129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486732	NM_004454.3(ETV5):c.370G>A (p.Asp124Asn)	ETV5, ETV5-AS1 (D124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267175	NM_004454.3(ETV5):c.363-132G>A	ETV5, ETV5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295077	NM_004454.3(ETV5):c.362+107T>C	ETV5, ETV5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090774	NM_004454.3(ETV5):c.334T>C (p.Tyr112His)	ETV5 (Y112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623378	NM_004454.3(ETV5):c.319G>T (p.Ala107Ser)	ETV5 (A107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405555	NM_004454.3(ETV5):c.311A>G (p.His104Arg)	ETV5 (H104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276633	NM_004454.3(ETV5):c.292G>A (p.Glu98Lys)	ETV5 (E98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044927	NM_004454.3(ETV5):c.240T>G (p.Leu80=)	ETV5	Single nucleotide variant (synonymous variant)	ETV5-related disorder	GLikely benign
Select item 2319075	NM_004454.3(ETV5):c.73C>T (p.Arg25Trp)	ETV5 (R25W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251716	NM_004454.3(ETV5):c.36G>A (p.Met12Ile)	ETV5 (M12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052398	NM_004454.3(ETV5):c.6C>T (p.Asp2=)	ETV5	Single nucleotide variant (synonymous variant)	ETV5-related disorder	GLikely benign
Select item 1233870	NM_004454.3(ETV5):c.-74-211G>A	ETV5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283692	NM_004454.3(ETV5):c.-74-242A>G	ETV5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227671	NM_004454.3(ETV5):c.-74-273A>G	ETV5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814505	GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1	DVL3, ALG3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394816	GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1	ADIPOQ, AHSG +14 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 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: 76