ENO4[gene] - ClinVar

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

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	See cases	GPathogenic
Select item 2235715	NM_001242699.2(ENO4):c.41G>C (p.Arg14Thr)	ENO4, HSPA12A (R14T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2303831	NM_001242699.2(ENO4):c.65A>G (p.Gln22Arg)	ENO4, HSPA12A (Q22R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253853	NM_001242699.2(ENO4):c.112G>A (p.Glu38Lys)	ENO4, HSPA12A (E38K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2391230	NM_001242699.2(ENO4):c.150C>A (p.Asp50Glu)	ENO4, HSPA12A (D50E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2606812	NM_001242699.2(ENO4):c.152T>C (p.Val51Ala)	ENO4, HSPA12A (V51A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3275445	NM_001242699.2(ENO4):c.162C>A (p.His54Gln)	ENO4, HSPA12A (H54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212558	NM_001242699.2(ENO4):c.202A>C (p.Ile68Leu)	ENO4 (I68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513992	NM_001242699.2(ENO4):c.212T>C (p.Ile71Thr)	ENO4 (I71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207481	NM_001242699.2(ENO4):c.298G>A (p.Val100Ile)	ENO4 (V100I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557103	NM_001242699.2(ENO4):c.388G>A (p.Ala130Thr)	ENO4 (A130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088915	NM_001242699.2(ENO4):c.428C>T (p.Thr143Met)	ENO4 (T143M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356709	NM_001242699.2(ENO4):c.454T>C (p.Ser152Pro)	ENO4 (S152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222096	NM_001242699.2(ENO4):c.493T>C (p.Phe165Leu)	ENO4 (F165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404513	NM_001242699.2(ENO4):c.496G>A (p.Ala166Thr)	ENO4 (A166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402081	NM_001242699.2(ENO4):c.533T>C (p.Leu178Ser)	ENO4 (L178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270784	NM_001242699.2(ENO4):c.685G>A (p.Glu229Lys)	ENO4 (E229K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235367	NM_001242699.2(ENO4):c.685G>C (p.Glu229Gln)	ENO4 (E229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545081	NM_001242699.2(ENO4):c.700G>A (p.Gly234Ser)	ENO4 (G234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242783	NM_001242699.2(ENO4):c.716G>A (p.Gly239Glu)	ENO4 (G239E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088916	NM_001242699.2(ENO4):c.742G>C (p.Ala248Pro)	ENO4 (A248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275446	NM_001242699.2(ENO4):c.883A>C (p.Asn295His)	ENO4 (N295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589268	NM_001242699.2(ENO4):c.943G>A (p.Glu315Lys)	ENO4 (E315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335818	NM_001242699.2(ENO4):c.1022G>A (p.Gly341Glu)	ENO4 (G341E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220969	NM_001242699.2(ENO4):c.1057A>T (p.Thr353Ser)	ENO4 (T353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275448	NM_001242699.2(ENO4):c.1065G>T (p.Lys355Asn)	ENO4 (K355N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088910	NM_001242699.2(ENO4):c.1088C>T (p.Thr363Ile)	ENO4 (T363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088911	NM_001242699.2(ENO4):c.1145A>G (p.Asn382Ser)	ENO4 (N382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537813	NM_001242699.2(ENO4):c.1262C>T (p.Ala421Val)	ENO4 (A421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275447	NM_001242699.2(ENO4):c.1314T>G (p.Ile438Met)	ENO4 (I438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724591	NM_001242699.2(ENO4):c.1455C>T (p.Ile485=)	ENO4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589442	NM_001242699.2(ENO4):c.1532T>C (p.Ile511Thr)	ENO4 (I511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088912	NM_001242699.2(ENO4):c.1551C>G (p.Ile517Met)	ENO4 (I517M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088913	NM_001242699.2(ENO4):c.1625G>A (p.Arg542Gln)	ENO4 (R542Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285551	NM_001242699.2(ENO4):c.1635G>C (p.Lys545Asn)	ENO4 (K545N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483603	NM_001242699.2(ENO4):c.1676A>G (p.Asn559Ser)	ENO4 (N559S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327511	NM_001242699.2(ENO4):c.1679G>A (p.Arg560His)	ENO4 (R560H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222311	NM_001242699.2(ENO4):c.1681C>T (p.Leu561Phe)	ENO4 (L561F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088914	NM_001242699.2(ENO4):c.1690A>G (p.Ile564Val)	ENO4 (I564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540402	NM_001242699.2(ENO4):c.1712A>G (p.Asn571Ser)	ENO4 (N571S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512547	NM_001242699.2(ENO4):c.1745T>C (p.Phe582Ser)	ENO4, SHTN1 (F582S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321869	NM_001242699.2(ENO4):c.1786C>T (p.Leu596Phe)	ENO4, SHTN1 (L596F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542668	NM_001242699.2(ENO4):c.1837G>C (p.Gly613Arg)	ENO4, SHTN1 (G613R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240210	NM_001127211.3(SHTN1):c.1667C>T (p.Thr556Met)	ENO4, SHTN1 (T496M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473132	NM_001127211.3(SHTN1):c.1633C>T (p.Arg545Cys)	ENO4, SHTN1 (R545C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2253730	NM_001127211.3(SHTN1):c.1618C>T (p.Pro540Ser)	ENO4, SHTN1 (P480S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481619	NM_001127211.3(SHTN1):c.1612C>T (p.Pro538Ser)	ENO4, SHTN1 (P478S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250555	NM_001127211.3(SHTN1):c.1456G>T (p.Val486Leu)	ENO4, LOC126861056 +1 more (V486L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162024	NM_001127211.3(SHTN1):c.1451G>A (p.Arg484Lys)	ENO4, LOC126861056 +1 more (R424K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533797	NM_001127211.3(SHTN1):c.1408C>A (p.Pro470Thr)	ENO4, LOC126861056 +1 more (P410T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 768393	NM_001127211.3(SHTN1):c.1317G>A (p.Ser439=)	ENO4, SHTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3244903	NC_000010.10:g.(?_117823909)_(119750414_?)dup	CCDC172, EMX2 +14 more	Duplication	Microphthalmia, syndromic 11	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 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: 79