ACSL5[gene] - ClinVar

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

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
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 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	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 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
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 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 2311963	NM_203379.2(ACSL5):c.-30+2048C>T	ACSL5 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2538279	NM_203379.2(ACSL5):c.-30+2050C>G	ACSL5 (L4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140072	NM_203379.2(ACSL5):c.-30+2076C>A	ACSL5 (N12K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297839	NM_203379.2(ACSL5):c.-30+2100G>C	ACSL5 (R20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407314	NM_203379.2(ACSL5):c.-30+2105C>T	ACSL5 (S22L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140059	NM_203379.2(ACSL5):c.38C>T (p.Pro13Leu)	ACSL5 (P13L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707869	NM_203379.2(ACSL5):c.119C>A (p.Pro40His)	ACSL5 (P40H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2310292	NM_203379.2(ACSL5):c.133A>G (p.Asn45Asp)	ACSL5 (N101D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496107	NM_203379.2(ACSL5):c.203G>C (p.Ser68Thr)	ACSL5 (S124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507514	NM_203379.2(ACSL5):c.295C>A (p.Pro99Thr)	ACSL5 (P155T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310120	NM_203379.2(ACSL5):c.367T>G (p.Leu123Val)	ACSL5 (L123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784168	NM_203379.2(ACSL5):c.433-10C>T	ACSL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2254116	NM_203379.2(ACSL5):c.461C>T (p.Thr154Met)	ACSL5 (T154M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263120	NM_203379.2(ACSL5):c.466T>A (p.Ser156Thr)	ACSL5 (S212T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140097	NM_203379.2(ACSL5):c.506A>C (p.Glu169Ala)	ACSL5 (E225A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343054	NM_203379.2(ACSL5):c.541G>A (p.Ala181Thr)	ACSL5 (A181T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246263	NM_203379.2(ACSL5):c.551T>C (p.Ile184Thr)	ACSL5 (I184T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140105	NM_203379.2(ACSL5):c.623T>A (p.Val208Glu)	ACSL5 (V208E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024818	NM_203379.2(ACSL5):c.708T>A (p.Ala236=)	ACSL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524677	NM_203379.2(ACSL5):c.753C>G (p.Ser251Arg)	ACSL5 (S251R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140011	NM_203379.2(ACSL5):c.884C>T (p.Pro295Leu)	ACSL5 (P295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339460	NM_203379.2(ACSL5):c.889C>G (p.Pro297Ala)	ACSL5 (P353A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784211	NM_203379.2(ACSL5):c.1131G>A (p.Leu377=)	ACSL5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2469988	NM_203379.2(ACSL5):c.1153G>A (p.Glu385Lys)	ACSL5 (E385K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610330	NM_203379.2(ACSL5):c.1235G>T (p.Arg412Met)	ACSL5 (R468M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140024	NM_203379.2(ACSL5):c.1246A>T (p.Ile416Phe)	ACSL5 (I472F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500167	NM_203379.2(ACSL5):c.1358C>A (p.Thr453Lys)	ACSL5 (T453K +1 more)	Single nucleotide variant (missense variant)	Diarrhea 13	GPathogenic
Select item 3140028	NM_203379.2(ACSL5):c.1381A>G (p.Thr461Ala)	ACSL5 (T461A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475885	NM_203379.2(ACSL5):c.1424A>G (p.Lys475Arg)	ACSL5 (K475R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551372	NM_203379.2(ACSL5):c.1451A>G (p.Tyr484Cys)	ACSL5 (Y484C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780892	NM_203379.2(ACSL5):c.1456A>G (p.Thr486Ala)	ACSL5 (T486A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2233770	NM_203379.2(ACSL5):c.1613T>C (p.Ile538Thr)	ACSL5, ZDHHC6 (I538T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140043	NM_203379.2(ACSL5):c.1673T>C (p.Ile558Thr)	ACSL5, ZDHHC6 (I614T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396424	NM_203379.2(ACSL5):c.1729A>C (p.Ser577Arg)	ACSL5, ZDHHC6 (S577R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140049	NM_203379.2(ACSL5):c.1735C>T (p.Arg579Trp)	ACSL5, ZDHHC6 (R635W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336692	NM_203379.2(ACSL5):c.1784C>T (p.Ser595Leu)	ACSL5, ZDHHC6 (S595L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529585	NM_203379.2(ACSL5):c.1814C>T (p.Ser605Phe)	ACSL5, ZDHHC6 (S661F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140065	NM_203379.2(ACSL5):c.1972A>C (p.Thr658Pro)	ACSL5, ZDHHC6 (T658P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063174	GRCh37/hg19 10q25.2(chr10:113210605-114138029)x3	ACSL5, GPAM +1 more	Copy number gain	not specified	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 2684622	GRCh37/hg19 10q25.2(chr10:113694296-114349917)x3	ACSL5, GPAM +3 more	Copy number gain	not provided	GUncertain significance
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)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	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 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	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)	A1CF, ABCC2 +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	BCCIP, BEND7 +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: 68