AMACR (alpha-methylacyl-CoA racemase) - Rat Genome Database

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Gene: AMACR (alpha-methylacyl-CoA racemase) Homo sapiens
Analyze
Symbol: AMACR
Name: alpha-methylacyl-CoA racemase
RGD ID: 735888
HGNC Page HGNC:451
Description: Enables alpha-methylacyl-CoA racemase activity and signaling receptor binding activity. Involved in bile acid metabolic process. Located in mitochondrion; peroxisome; and plasma membrane. Implicated in alpha-methylacyl-CoA racemase deficiency; congenital bile acid synthesis defect 4; and urinary bladder cancer. Biomarker of breast carcinoma; prostate carcinoma in situ; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2-methylacyl-CoA racemase; AMACRD; CBAS4; P504S; RACE; RM
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100420304  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38533,986,165 - 34,008,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl533,986,165 - 34,008,104 (-)EnsemblGRCh38hg38GRCh38
GRCh37533,986,270 - 34,008,155 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36534,023,652 - 34,043,963 (-)NCBINCBI36Build 36hg18NCBI36
Build 34534,023,658 - 34,043,963NCBI
Celera533,875,521 - 33,896,657 (-)NCBICelera
Cytogenetic Map5p13.2NCBI
HuRef533,965,051 - 33,986,185 (-)NCBIHuRef
CHM1_1533,988,659 - 34,009,789 (-)NCBICHM1_1
T2T-CHM13v2.0534,108,084 - 34,129,983 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methylphenanthrene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acetamide  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bicalutamide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bleomycin A5  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (EXP)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diquat  (ISO)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
hydrazine  (ISO)
ibuprofen  (EXP)
indometacin  (ISO)
isotretinoin  (EXP)
mercury dichloride  (EXP,ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel dichloride  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
pterostilbene  (EXP)
quercetin  (EXP)
sarin  (EXP)
SB 431542  (EXP)
silibinin  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thalidomide  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormality of the liver  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cataract  (IAGP)
Cholelithiasis  (IAGP)
Cholestatic liver disease  (IAGP)
Constriction of peripheral visual field  (IAGP)
Decreased circulating calcifediol concentration  (IAGP)
Decreased circulating vitamin E concentration  (IAGP)
Decreased circulating vitamin K concentration  (IAGP)
Decreased serum bile acid concentration  (IAGP)
Depression  (IAGP)
Dysarthria  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated circulating phytanic acid concentration  (IAGP)
Encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Fat malabsorption  (IAGP)
Focal-onset seizure  (IAGP)
Giant cell hepatitis  (IAGP)
Hematochezia  (IAGP)
Hemiparesis  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Homonymous hemianopia  (IAGP)
Hyperbilirubinemia  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Increased circulating very long-chain fatty acid concentration  (IAGP)
Increased phytanic acid:pristanic acid ratio  (IAGP)
Intention tremor  (IAGP)
Intrahepatic cholestasis  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Migraine  (IAGP)
Neonatal onset  (IAGP)
Pigmentary retinopathy  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Prolonged partial thromboplastin time  (IAGP)
Prolonged prothrombin time  (IAGP)
Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts  (IAGP)
Rhabdomyolysis  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensory neuropathy  (IAGP)
Spastic ataxia  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Status epilepticus  (IAGP)
Stroke-like episode  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
Visual impairment  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Expression of alpha-methylacyl-CoA racemase correlates with histopathologic grading in noninvasive bladder cancer. Gunia S, etal., Virchows Arch. 2008 Aug;453(2):165-70. Epub 2008 Jul 22.
3. Aberrant expression and potency as a cancer immunotherapy target of alpha-methylacyl-coenzyme A racemase in prostate cancer. Honma I, etal., J Transl Med. 2009 Dec 9;7:103.
4. Alpha-methylacyl-CoA racemase (AMACR/P504S) protein expression in urothelial carcinoma of the upper urinary tract correlates with tumour progression. Langner C, etal., Virchows Arch. 2006 Mar;448(3):325-30. Epub 2005 Nov 29.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Prognostic significance of alpha-methylacyl-coA racemase among men with high grade prostatic intraepithelial neoplasia in prostate biopsies. Stewart J, etal., J Urol. 2008 May;179(5):1751-5; discussion 1755. Epub 2008 Mar 17.
12. Expression of alpha-methylacyl-CoA racemase in papillary renal cell carcinoma. Tretiakova MS, etal., Am J Surg Pathol. 2004 Jan;28(1):69-76.
13. Alpha-methylacyl-CoA racemase protein expression is associated with the degree of differentiation in breast cancer using quantitative image analysis. Witkiewicz AK, etal., Cancer Epidemiol Biomarkers Prev. 2005 Jun;14(6):1418-23.
Additional References at PubMed
PMID:7649182   PMID:8125298   PMID:9307041   PMID:10655068   PMID:10770938   PMID:11060344   PMID:11060359   PMID:11076863   PMID:11926890   PMID:11956072   PMID:12131161   PMID:12213712  
PMID:12374981   PMID:12438241   PMID:12477932   PMID:12673556   PMID:12810662   PMID:14612535   PMID:14702039   PMID:14960364   PMID:15323145   PMID:15330799   PMID:15489336   PMID:15880524  
PMID:15941951   PMID:16344560   PMID:16381901   PMID:16424894   PMID:16491480   PMID:16506014   PMID:16681682   PMID:16756494   PMID:17067752   PMID:17222253   PMID:17525630   PMID:17680641  
PMID:17683075   PMID:17684125   PMID:18032455   PMID:18080842   PMID:18279392   PMID:18500268   PMID:18537123   PMID:18577240   PMID:18665038   PMID:18676680   PMID:18712414   PMID:18785113  
PMID:18788852   PMID:18835622   PMID:19064571   PMID:19068396   PMID:19148275   PMID:19170196   PMID:19384190   PMID:19459159   PMID:19605815   PMID:19625176   PMID:19638170   PMID:19692168  
PMID:20102405   PMID:20178365   PMID:20189848   PMID:20503447   PMID:20636793   PMID:20664974   PMID:20821052   PMID:20875727   PMID:20877624   PMID:20945498   PMID:21176184   PMID:21195844  
PMID:21441411   PMID:21457159   PMID:21873635   PMID:22009118   PMID:22078291   PMID:22248277   PMID:22507319   PMID:22542076   PMID:22593005   PMID:22782380   PMID:23235347   PMID:23376124  
PMID:23434146   PMID:23797726   PMID:24004067   PMID:24119561   PMID:24383053   PMID:24675392   PMID:24705308   PMID:24833092   PMID:25092674   PMID:25149154   PMID:25307752   PMID:25313761  
PMID:25384383   PMID:25473890   PMID:25551297   PMID:25773837   PMID:26496610   PMID:26648339   PMID:26766126   PMID:26888362   PMID:26928323   PMID:27271990   PMID:28384107   PMID:28508828  
PMID:28514442   PMID:28741117   PMID:28902459   PMID:28986522   PMID:29179959   PMID:29277318   PMID:29725255   PMID:30317298   PMID:30337219   PMID:30945288   PMID:31361605   PMID:31741433  
PMID:32031122   PMID:33433414   PMID:33961781   PMID:34505419   PMID:34800366   PMID:35696768   PMID:35998819   PMID:36108118   PMID:36577560   PMID:37788672   PMID:38579443  


Genomics

Comparative Map Data
AMACR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38533,986,165 - 34,008,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl533,986,165 - 34,008,104 (-)EnsemblGRCh38hg38GRCh38
GRCh37533,986,270 - 34,008,155 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36534,023,652 - 34,043,963 (-)NCBINCBI36Build 36hg18NCBI36
Build 34534,023,658 - 34,043,963NCBI
Celera533,875,521 - 33,896,657 (-)NCBICelera
Cytogenetic Map5p13.2NCBI
HuRef533,965,051 - 33,986,185 (-)NCBIHuRef
CHM1_1533,988,659 - 34,009,789 (-)NCBICHM1_1
T2T-CHM13v2.0534,108,084 - 34,129,983 (-)NCBIT2T-CHM13v2.0
Amacr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391510,981,875 - 10,995,693 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1510,981,842 - 10,996,712 (+)EnsemblGRCm39 Ensembl
GRCm381510,981,756 - 10,996,624 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1510,981,756 - 10,996,626 (+)EnsemblGRCm38mm10GRCm38
MGSCv371510,911,511 - 10,926,379 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361510,926,481 - 10,941,349 (+)NCBIMGSCv36mm8
Celera1510,773,835 - 10,788,820 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map155.39NCBI
Amacr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8261,673,291 - 61,685,381 (+)NCBIGRCr8
mRatBN7.2259,946,158 - 59,958,255 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl259,946,153 - 59,958,255 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx267,055,385 - 67,067,396 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0265,176,896 - 65,188,909 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0260,178,272 - 60,190,287 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0260,949,276 - 60,961,342 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl260,949,256 - 60,961,326 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0283,723,119 - 83,735,166 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4260,332,292 - 60,344,326 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1260,260,524 - 60,272,557 (+)NCBI
Celera258,726,090 - 58,738,137 (-)NCBICelera
Cytogenetic Map2q16NCBI
Amacr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542619,570,070 - 19,580,818 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542619,570,179 - 19,580,920 (-)NCBIChiLan1.0ChiLan1.0
AMACR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2476,300,803 - 76,321,985 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1574,455,666 - 74,477,720 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0576,336,631 - 76,358,724 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1581,722,973 - 81,742,806 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl581,687,891 - 81,742,003 (+)Ensemblpanpan1.1panPan2
AMACR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1473,815,438 - 73,836,016 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl473,815,291 - 73,867,437 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha473,431,203 - 73,451,716 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0474,321,712 - 74,342,286 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl474,321,704 - 74,376,263 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1474,068,256 - 74,088,061 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0474,191,815 - 74,212,352 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0474,725,962 - 74,746,514 (+)NCBIUU_Cfam_GSD_1.0
Amacr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213224,282,991 - 224,299,409 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365187,072,403 - 7,088,929 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365187,072,436 - 7,088,927 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMACR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1619,956,366 - 20,023,289 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11620,005,741 - 20,023,339 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21620,765,256 - 20,782,844 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AMACR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1433,221,777 - 33,244,829 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl433,225,754 - 33,244,836 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607123,518,099 - 23,540,732 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Amacr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475920,495,980 - 20,510,582 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475920,495,697 - 20,506,343 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AMACR
374 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) single nucleotide variant AMACR-related disorder [RCV003952344]|Alpha-methylacyl-CoA racemase deficiency [RCV000005858]|Congenital bile acid synthesis defect 4 [RCV000005859]|Inborn genetic diseases [RCV004018567]|not provided [RCV000727651] Chr5:34007866 [GRCh38]
Chr5:34007971 [GRCh37]
Chr5:5p13.2
pathogenic|likely pathogenic
NM_014324.6(AMACR):c.320T>C (p.Leu107Pro) single nucleotide variant Congenital bile acid synthesis defect 4 [RCV000005860] Chr5:34005827 [GRCh38]
Chr5:34005932 [GRCh37]
Chr5:5p13.2
pathogenic
NM_014324.6(AMACR):c.1123A>G (p.Ser375Gly) single nucleotide variant AMACR-related disorder [RCV004748928]|Alpha-methylacyl-CoA racemase deficiency [RCV001297394]|not provided [RCV000729411] Chr5:33989119 [GRCh38]
Chr5:33989224 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1 copy number loss See cases [RCV000053449] Chr5:30149035..35213678 [GRCh38]
Chr5:30149142..35213780 [GRCh37]
Chr5:30184899..35249537 [NCBI36]
Chr5:5p13.3-13.2
pathogenic
NM_014324.6(AMACR):c.25G>A (p.Val9Met) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000318434]|Congenital bile acid synthesis defect 4 [RCV001549130]|not provided [RCV000676071]|not specified [RCV000116320] Chr5:34007995 [GRCh38]
Chr5:34008100 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000333635]|Congenital bile acid synthesis defect 4 [RCV001549129]|not provided [RCV000676068]|not specified [RCV000116321] Chr5:34004602 [GRCh38]
Chr5:34004602..34004603 [GRCh38]
Chr5:34004707 [GRCh37]
Chr5:34004707..34004708 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000276161]|Congenital bile acid synthesis defect 4 [RCV001549128]|not provided [RCV000676067]|not specified [RCV000116322] Chr5:33998778 [GRCh38]
Chr5:33998883 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_014324.6(AMACR):c.717G>T (p.Gln239His) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000306332]|not provided [RCV000676065]|not specified [RCV000116323] Chr5:33998663 [GRCh38]
Chr5:33998768 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000302812]|Congenital bile acid synthesis defect 4 [RCV001549127]|Oculocutaneous albinism [RCV000368392]|not provided [RCV000676064]|not specified [RCV000116324] Chr5:33989413 [GRCh38]
Chr5:33989518 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_014324.6(AMACR):c.740-8_740-6delinsGGA indel Alpha-methylacyl-CoA racemase deficiency [RCV002001536] Chr5:33989508..33989510 [GRCh38]
Chr5:33989613..33989615 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh38/hg38 5p13.2(chr5:34001923-34715944)x3 copy number gain See cases [RCV000133876] Chr5:34001923..34715944 [GRCh38]
Chr5:34002028..34716049 [GRCh37]
Chr5:34037785..34751806 [NCBI36]
Chr5:5p13.2
uncertain significance
GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1 copy number loss See cases [RCV000135667] Chr5:30961310..36143306 [GRCh38]
Chr5:30961417..36143408 [GRCh37]
Chr5:30997174..36179165 [NCBI36]
Chr5:5p13.3-13.2
likely pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) single nucleotide variant AMACR-related disorder [RCV003927756]|Alpha-methylacyl-CoA racemase deficiency [RCV000894738]|Congenital bile acid synthesis defect 4 [RCV000765838]|Mitochondrial complex I deficiency [RCV000490396]|not specified [RCV000194266] Chr5:33989398 [GRCh38]
Chr5:33989503 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000364524]|Congenital bile acid synthesis defect 4 [RCV002503880]|not provided [RCV000224095]|not specified [RCV000423128] Chr5:33989460 [GRCh38]
Chr5:33989565 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) single nucleotide variant AMACR-related disorder [RCV003407763]|Alpha-methylacyl-CoA racemase deficiency [RCV000706283]|not provided [RCV000224246] Chr5:33998826 [GRCh38]
Chr5:33998931 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.781A>T (p.Met261Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002516219]|not provided [RCV000224390] Chr5:33989461 [GRCh38]
Chr5:33989566 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.2(chr5:34003361-34663915)x3 copy number gain Premature ovarian failure [RCV000225120] Chr5:34003361..34663915 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.136T>C (p.Leu46=) single nucleotide variant not specified [RCV000599781] Chr5:34007884 [GRCh38]
Chr5:34007989 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
NM_014324.5(AMACR):c.-70G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000278509]|not provided [RCV004695860] Chr5:34008089 [GRCh38]
Chr5:34008194 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*540T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000282413] Chr5:33988553 [GRCh38]
Chr5:33988658 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.48G>A (p.Pro16=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000275066] Chr5:34007972 [GRCh38]
Chr5:34008077 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.740-5C>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000272295] Chr5:33989507 [GRCh38]
Chr5:33989612 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1367T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000299076] Chr5:33987726 [GRCh38]
Chr5:33987831 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*753T>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000332627]|not provided [RCV000429910] Chr5:33988340 [GRCh38]
Chr5:33988445 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.*1804G>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000351889] Chr5:33987289 [GRCh38]
Chr5:33987394 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.*1727G>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000396972] Chr5:33987366 [GRCh38]
Chr5:33987471 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.*1942C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000396969] Chr5:33987151 [GRCh38]
Chr5:33987256 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.5(AMACR):c.-40G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000375336] Chr5:34008059 [GRCh38]
Chr5:34008164 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*449T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000335132] Chr5:33988644 [GRCh38]
Chr5:33988749 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.*976G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000381706]|not provided [RCV004711006] Chr5:33988117 [GRCh38]
Chr5:33988222 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.*2088A>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000320982] Chr5:33987005 [GRCh38]
Chr5:33987110 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*2044C>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000384956] Chr5:33987049 [GRCh38]
Chr5:33987154 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000363748]|not provided [RCV000676066]|not specified [RCV000418688] Chr5:33998668 [GRCh38]
Chr5:33998773 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_014324.6(AMACR):c.353G>A (p.Arg118Gln) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000385825]|not provided [RCV004716327]|not specified [RCV000435500] Chr5:34005794 [GRCh38]
Chr5:34005899 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.*1945A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000345651] Chr5:33987148 [GRCh38]
Chr5:33987253 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.*714T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000389363]|not provided [RCV001564917] Chr5:33988379 [GRCh38]
Chr5:33988484 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.*1643T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000312201] Chr5:33987450 [GRCh38]
Chr5:33987555 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*233T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000394999]|not provided [RCV004695859] Chr5:33988860 [GRCh38]
Chr5:33988965 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1181G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000268577] Chr5:33987912 [GRCh38]
Chr5:33988017 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*227T>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000304145]|Oculocutaneous albinism [RCV000313680]|not provided [RCV001662327] Chr5:33988866 [GRCh38]
Chr5:33988971 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.*1560G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000400084] Chr5:33987533 [GRCh38]
Chr5:33987638 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*982C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000329461]|Oculocutaneous albinism [RCV000391906]|not provided [RCV001565034] Chr5:33988111 [GRCh38]
Chr5:33988216 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.*1853G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000294697] Chr5:33987240 [GRCh38]
Chr5:33987345 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*573dup duplication Alpha-methylacyl-CoA racemase deficiency [RCV000405284] Chr5:33988519..33988520 [GRCh38]
Chr5:33988624..33988625 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*617G>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000350176]|Congenital bile acid synthesis defect 4 [RCV001549021]|Oculocutaneous albinism [RCV000403059]|not provided [RCV001598662] Chr5:33988476 [GRCh38]
Chr5:33988581 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.*2093A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000284683] Chr5:33987000 [GRCh38]
Chr5:33987105 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1178G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000321395] Chr5:33987915 [GRCh38]
Chr5:33988020 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg) indel Alpha-methylacyl-CoA racemase deficiency [RCV001854087]|not provided [RCV000598106] Chr5:34007892..34007893 [GRCh38]
Chr5:34007997..34007998 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.889G>A (p.Val297Ile) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000390294] Chr5:33989353 [GRCh38]
Chr5:33989458 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1622T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000355206] Chr5:33987471 [GRCh38]
Chr5:33987576 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1070C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000272108]|Oculocutaneous albinism [RCV000347567]|not provided [RCV001618640] Chr5:33988023 [GRCh38]
Chr5:33988128 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.*1144A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000359526]|Oculocutaneous albinism [RCV000283159]|not provided [RCV004711005] Chr5:33987949 [GRCh38]
Chr5:33988054 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.*963C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000289252]|Oculocutaneous albinism [RCV000288882]|not provided [RCV001672662] Chr5:33988130 [GRCh38]
Chr5:33988235 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.*1961G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000290632]|Oculocutaneous albinism [RCV000377863] Chr5:33987132 [GRCh38]
Chr5:33987237 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.*663G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000292807]|Congenital bile acid synthesis defect 4 [RCV001549020]|Oculocutaneous albinism [RCV000344126]|not provided [RCV001618641] Chr5:33988430 [GRCh38]
Chr5:33988535 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.*1353G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000360840] Chr5:33987740 [GRCh38]
Chr5:33987845 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.937G>A (p.Gly313Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000361139] Chr5:33989305 [GRCh38]
Chr5:33989410 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.290G>C (p.Arg97Pro) single nucleotide variant AMACR-related disorder [RCV004748855]|Alpha-methylacyl-CoA racemase deficiency [RCV001860224]|Inborn genetic diseases [RCV004024872]|not provided [RCV000596217] Chr5:34005857 [GRCh38]
Chr5:34005962 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1985G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001152755] Chr5:33987108 [GRCh38]
Chr5:33987213 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1931G>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001152756] Chr5:33987162 [GRCh38]
Chr5:33987267 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1011C>T (p.Ile337=) single nucleotide variant AMACR-related disorder [RCV003900353]|Alpha-methylacyl-CoA racemase deficiency [RCV002065176]|not provided [RCV000591995] Chr5:33989231 [GRCh38]
Chr5:33989336 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.410G>A (p.Gly137Asp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001854106]|Inborn genetic diseases [RCV004024842]|not provided [RCV000593684] Chr5:34004716 [GRCh38]
Chr5:34004821 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.783G>A (p.Met261Ile) single nucleotide variant AMACR-related disorder [RCV004748854]|Alpha-methylacyl-CoA racemase deficiency [RCV001154993]|Congenital bile acid synthesis defect 4 [RCV000765839]|not provided [RCV000591090] Chr5:33989459 [GRCh38]
Chr5:33989564 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1032T>A (p.Pro344=) single nucleotide variant not provided [RCV000729586] Chr5:33989210 [GRCh38]
Chr5:33989315 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.247+9G>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001151192]|not provided [RCV000733121] Chr5:34007764 [GRCh38]
Chr5:34007869 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.90T>G (p.Arg30=) single nucleotide variant AMACR-related disorder [RCV003908050]|Alpha-methylacyl-CoA racemase deficiency [RCV001487564]|not provided [RCV000733166] Chr5:34007930 [GRCh38]
Chr5:34008035 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.182G>C (p.Arg61Pro) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001855770]|Congenital bile acid synthesis defect 4 [RCV002485912]|not provided [RCV000732293] Chr5:34007838 [GRCh38]
Chr5:34007943 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.2(chr5:33947411-34736875)x3 copy number gain not provided [RCV000416187] Chr5:33947411..34736875 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.511C>T (p.Arg171Cys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001156654]|not provided [RCV000733894] Chr5:34004615 [GRCh38]
Chr5:34004720 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000733970] Chr5:34008019 [GRCh38]
Chr5:34008124 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1149A>C (p.Ter383Tyr) single nucleotide variant not provided [RCV000733463] Chr5:33989093 [GRCh38]
Chr5:33989198 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.566C>A (p.Ala189Glu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001855784]|not provided [RCV000733511] Chr5:33998814 [GRCh38]
Chr5:33998919 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.714C>G (p.Pro238=) single nucleotide variant AMACR-related disorder [RCV003955475]|Alpha-methylacyl-CoA racemase deficiency [RCV002061019]|not provided [RCV000734122] Chr5:33998666 [GRCh38]
Chr5:33998771 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.243C>T (p.Arg81=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002535369]|not provided [RCV000734161] Chr5:34007777 [GRCh38]
Chr5:34007882 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.770A>G (p.Asn257Ser) single nucleotide variant AMACR-related disorder [RCV004748944]|Alpha-methylacyl-CoA racemase deficiency [RCV003106044]|not provided [RCV000732738] Chr5:33989472 [GRCh38]
Chr5:33989577 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.662C>T (p.Thr221Met) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001855803]|not provided [RCV000734193] Chr5:33998718 [GRCh38]
Chr5:33998823 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.429G>A (p.Pro143=) single nucleotide variant AMACR-related disorder [RCV003892638]|Alpha-methylacyl-CoA racemase deficiency [RCV002061001]|not provided [RCV000731669] Chr5:34004697 [GRCh38]
Chr5:34004802 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.785A>G (p.Asp262Gly) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002535296]|not provided [RCV000732868] Chr5:33989457 [GRCh38]
Chr5:33989562 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.785A>T (p.Asp262Val) single nucleotide variant not provided [RCV000727982] Chr5:33989457 [GRCh38]
Chr5:33989562 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.625G>C (p.Gly209Arg) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001306056]|Inborn genetic diseases [RCV002535183]|not provided [RCV000730965] Chr5:33998755 [GRCh38]
Chr5:33998860 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1083C>T (p.Arg361=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001489261]|not provided [RCV000730987] Chr5:33989159 [GRCh38]
Chr5:33989264 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
NM_014324.6(AMACR):c.966C>T (p.Asp322=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002526353]|not specified [RCV000427333] Chr5:33989276 [GRCh38]
Chr5:33989381 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.-22C>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001151195]|not provided [RCV000676072]|not specified [RCV000434500] Chr5:34008041 [GRCh38]
Chr5:34008146 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_014324.6(AMACR):c.247+8C>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001078870]|not provided [RCV000727297]|not specified [RCV000428987] Chr5:34007765 [GRCh38]
Chr5:34007870 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.837G>A (p.Thr279=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001085687]|not provided [RCV000676063]|not specified [RCV000432436] Chr5:33989405 [GRCh38]
Chr5:33989510 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.553-4A>G single nucleotide variant not specified [RCV000439941] Chr5:33998831 [GRCh38]
Chr5:33998936 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.247+20G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001512826]|not provided [RCV000676069]|not specified [RCV000444798] Chr5:34007753 [GRCh38]
Chr5:34007858 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002524732]|Inborn genetic diseases [RCV004639232]|not provided [RCV000442238] Chr5:34004681 [GRCh38]
Chr5:34004786 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11
likely pathogenic
GRCh37/hg19 5p13.2(chr5:33945082-34754248)x3 copy number gain See cases [RCV000510516] Chr5:33945082..34754248 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) single nucleotide variant AMACR-related disorder [RCV003935621]|Alpha-methylacyl-CoA racemase deficiency [RCV001333042]|not provided [RCV000594793] Chr5:34007911 [GRCh38]
Chr5:34008016 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.739+16G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002066888]|not specified [RCV000615547] Chr5:33998625 [GRCh38]
Chr5:33998730 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.438G>A (p.Pro146=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001156655]|not provided [RCV000899417]|not specified [RCV000616876] Chr5:34004688 [GRCh38]
Chr5:34004793 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_014324.6(AMACR):c.553-8T>C single nucleotide variant not provided [RCV000594249] Chr5:33998835 [GRCh38]
Chr5:33998940 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.204T>A (p.Arg68=) single nucleotide variant AMACR-related disorder [RCV003892524]|Alpha-methylacyl-CoA racemase deficiency [RCV002060838]|not provided [RCV000676070] Chr5:34007816 [GRCh38]
Chr5:34007921 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_014324.6(AMACR):c.248-199C>T single nucleotide variant not provided [RCV001679308] Chr5:34006098 [GRCh38]
Chr5:34006203 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.541G>T (p.Asp181Tyr) single nucleotide variant Spastic ataxia [RCV001647251] Chr5:34004585 [GRCh38]
Chr5:34004690 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.603G>A (p.Leu201=) single nucleotide variant AMACR-related disorder [RCV003906140]|not provided [RCV000998365] Chr5:33998777 [GRCh38]
Chr5:33998882 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.270G>A (p.Leu90=) single nucleotide variant not provided [RCV000929132] Chr5:34005877 [GRCh38]
Chr5:34005982 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.602_603inv (p.Leu201Ser) inversion Alpha-methylacyl-CoA racemase deficiency [RCV001049000] Chr5:33998777..33998778 [GRCh38]
Chr5:33998882..33998883 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000779474] Chr5:34007897 [GRCh38]
Chr5:34008002 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.681T>C (p.Asp227=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002068636] Chr5:33998699 [GRCh38]
Chr5:33998804 [GRCh37]
Chr5:5p13.2
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_014324.6(AMACR):c.289C>A (p.Arg97=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001151191] Chr5:34005858 [GRCh38]
Chr5:34005963 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.100G>C (p.Val34Leu) single nucleotide variant AMACR-related disorder [RCV003963094]|Alpha-methylacyl-CoA racemase deficiency [RCV001151193]|Inborn genetic diseases [RCV004032792] Chr5:34007920 [GRCh38]
Chr5:34008025 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.857del (p.Ile286fs) deletion Alpha-methylacyl-CoA racemase deficiency [RCV000987506] Chr5:33989385 [GRCh38]
Chr5:33989490 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.206T>C (p.Leu69Pro) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV000987507] Chr5:34007814 [GRCh38]
Chr5:34007919 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.553-5C>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001156653] Chr5:33998832 [GRCh38]
Chr5:33998937 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001154154] Chr5:33989191 [GRCh38]
Chr5:33989296 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001154155]|not provided [RCV002261293] Chr5:33989241 [GRCh38]
Chr5:33989346 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_33944753)_(39364566_?)dup duplication not provided [RCV003107632] Chr5:33944753..39364566 [GRCh37]
Chr5:5p13.2-13.1
uncertain significance
NM_014324.6(AMACR):c.*1852C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001154033] Chr5:33987241 [GRCh38]
Chr5:33987346 [GRCh37]
Chr5:5p13.2
benign
NC_000005.10:g.34008171C>A single nucleotide variant not provided [RCV001719688] Chr5:34008171 [GRCh38]
Chr5:34008276 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.391+299T>C single nucleotide variant not provided [RCV001597701] Chr5:34005457 [GRCh38]
Chr5:34005562 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.739+242G>A single nucleotide variant not provided [RCV001664974] Chr5:33998399 [GRCh38]
Chr5:33998504 [GRCh37]
Chr5:5p13.2
likely benign
NC_000005.10:g.34008109_34008128del deletion not provided [RCV001617031] Chr5:34008102..34008121 [GRCh38]
Chr5:34008207..34008226 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.*1032G>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001156551] Chr5:33988061 [GRCh38]
Chr5:33988166 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*805C>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001156552] Chr5:33988288 [GRCh38]
Chr5:33988393 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.366C>T (p.His122=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001156656] Chr5:34005781 [GRCh38]
Chr5:34005886 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_014324.6(AMACR):c.*439A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001152873] Chr5:33988654 [GRCh38]
Chr5:33988759 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1928T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001152757] Chr5:33987165 [GRCh38]
Chr5:33987270 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.*523C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001152872] Chr5:33988570 [GRCh38]
Chr5:33988675 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1137A>T (p.Lys379Asn) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001152874] Chr5:33989105 [GRCh38]
Chr5:33989210 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1366A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001154875] Chr5:33987727 [GRCh38]
Chr5:33987832 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.841G>C (p.Ala281Pro) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001154156] Chr5:33989401 [GRCh38]
Chr5:33989506 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1110G>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001154877] Chr5:33987983 [GRCh38]
Chr5:33988088 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.710A>G (p.Glu237Gly) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001154994] Chr5:33998670 [GRCh38]
Chr5:33998775 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1875C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001152758] Chr5:33987218 [GRCh38]
Chr5:33987323 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*1862C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001152759] Chr5:33987231 [GRCh38]
Chr5:33987336 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.247+169T>G single nucleotide variant not provided [RCV001679856] Chr5:34007604 [GRCh38]
Chr5:34007709 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.27G>A (p.Val9=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001151194] Chr5:34007993 [GRCh38]
Chr5:34008098 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1 copy number loss not provided [RCV001005668] Chr5:29720391..34124081 [GRCh37]
Chr5:5p13.3-13.2
uncertain significance
NM_014324.6(AMACR):c.*1203A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001154876] Chr5:33987890 [GRCh38]
Chr5:33987995 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.*1764A>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001154034] Chr5:33987329 [GRCh38]
Chr5:33987434 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.*760C>T single nucleotide variant Congenital bile acid synthesis defect 4 [RCV004799271] Chr5:33988333 [GRCh38]
Chr5:33988438 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1045C>G (p.His349Asp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001349757] Chr5:33989197 [GRCh38]
Chr5:33989302 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.2(chr5:33945587-34754248)x3 copy number gain not provided [RCV001258679] Chr5:33945587..34754248 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.3-13.2(chr5:33501565-34167822)x3 copy number gain not provided [RCV001258683] Chr5:33501565..34167822 [GRCh37]
Chr5:5p13.3-13.2
uncertain significance
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12
pathogenic
NM_014324.6(AMACR):c.553-147C>T single nucleotide variant not provided [RCV001617303] Chr5:33998974 [GRCh38]
Chr5:33999079 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.247+219C>T single nucleotide variant not provided [RCV001673791] Chr5:34007554 [GRCh38]
Chr5:34007659 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.392-52T>A single nucleotide variant not provided [RCV001649394] Chr5:34004786 [GRCh38]
Chr5:34004891 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.950C>A (p.Thr317Asn) single nucleotide variant not provided [RCV001508169] Chr5:33989292 [GRCh38]
Chr5:33989397 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.552+77AGA[2] microsatellite not provided [RCV001779808] Chr5:34004489..34004491 [GRCh38]
Chr5:34004594..34004596 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.391+51C>A single nucleotide variant not provided [RCV001786605] Chr5:34005705 [GRCh38]
Chr5:34005810 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.248-92G>C single nucleotide variant not provided [RCV001786603] Chr5:34005991 [GRCh38]
Chr5:34006096 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.518G>A (p.Arg173His) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001868422]|not provided [RCV001754598] Chr5:34004608 [GRCh38]
Chr5:34004713 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.248-7T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002045097] Chr5:34005906 [GRCh38]
Chr5:34006011 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1109A>G (p.Asp370Gly) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001863532] Chr5:33989133 [GRCh38]
Chr5:33989238 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.106C>T (p.Arg36Trp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002045106]|Inborn genetic diseases [RCV004641877] Chr5:34007914 [GRCh38]
Chr5:34008019 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.887C>T (p.Pro296Leu) single nucleotide variant AMACR-related disorder [RCV003416594]|Alpha-methylacyl-CoA racemase deficiency [RCV001928399]|Congenital bile acid synthesis defect 4 [RCV002484487]|Inborn genetic diseases [RCV004641780] Chr5:33989355 [GRCh38]
Chr5:33989460 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.94G>A (p.Val32Ile) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001908171] Chr5:34007926 [GRCh38]
Chr5:34008031 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.965A>T (p.Asp322Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001929686] Chr5:33989277 [GRCh38]
Chr5:33989382 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.976dup (p.Arg326fs) duplication Alpha-methylacyl-CoA racemase deficiency [RCV002008451] Chr5:33989265..33989266 [GRCh38]
Chr5:33989370..33989371 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.994T>G (p.Leu332Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001909887] Chr5:33989248 [GRCh38]
Chr5:33989353 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11
pathogenic
NM_014324.6(AMACR):c.976C>T (p.Arg326Cys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002043264]|Inborn genetic diseases [RCV002548182] Chr5:33989266 [GRCh38]
Chr5:33989371 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.728T>G (p.Leu243Arg) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002039367] Chr5:33998652 [GRCh38]
Chr5:33998757 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.265C>T (p.Gln89Ter) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002023043] Chr5:34005882 [GRCh38]
Chr5:34005987 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.749T>G (p.Leu250Arg) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001910649] Chr5:33989493 [GRCh38]
Chr5:33989598 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.602T>G (p.Leu201Trp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002004691] Chr5:33998778 [GRCh38]
Chr5:33998883 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.884C>T (p.Thr295Ile) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001985532] Chr5:33989358 [GRCh38]
Chr5:33989463 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.248-60A>G single nucleotide variant not provided [RCV001837639] Chr5:34005959 [GRCh38]
Chr5:34006064 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.820G>A (p.Val274Ile) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001914238] Chr5:33989422 [GRCh38]
Chr5:33989527 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.698T>C (p.Val233Ala) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001927817] Chr5:33998682 [GRCh38]
Chr5:33998787 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.580T>C (p.Phe194Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001891479] Chr5:33998800 [GRCh38]
Chr5:33998905 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.512G>A (p.Arg171His) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001890280]|Inborn genetic diseases [RCV004641736] Chr5:34004614 [GRCh38]
Chr5:34004719 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.419G>A (p.Gly140Asp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002040950] Chr5:34004707 [GRCh38]
Chr5:34004812 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.737A>G (p.Lys246Arg) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002022561] Chr5:33998643 [GRCh38]
Chr5:33998748 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.407T>C (p.Ile136Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001872797] Chr5:34004719 [GRCh38]
Chr5:34004824 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.283C>G (p.Leu95Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001986617] Chr5:34005864 [GRCh38]
Chr5:34005969 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.713C>T (p.Pro238Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001872126]|not provided [RCV002261397] Chr5:33998667 [GRCh38]
Chr5:33998772 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_33944753)_(35089722_?)dup duplication Alpha-methylacyl-CoA racemase deficiency [RCV001946089] Chr5:33944753..35089722 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_34007858)_(34935958_?)dup duplication Alpha-methylacyl-CoA racemase deficiency [RCV001943057] Chr5:34007858..34935958 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.740-2del deletion Alpha-methylacyl-CoA racemase deficiency [RCV001943125] Chr5:33989504 [GRCh38]
Chr5:33989609 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.793C>A (p.Pro265Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001995716] Chr5:33989449 [GRCh38]
Chr5:33989554 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.319C>A (p.Leu107Met) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001981958] Chr5:34005828 [GRCh38]
Chr5:34005933 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.422A>C (p.Glu141Ala) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001963759] Chr5:34004704 [GRCh38]
Chr5:34004809 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.423G>C (p.Glu141Asp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001992781] Chr5:34004703 [GRCh38]
Chr5:34004808 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.184G>T (p.Gly62Ter) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002000523] Chr5:34007836 [GRCh38]
Chr5:34007941 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.367G>A (p.Asp123Asn) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001887432] Chr5:34005780 [GRCh38]
Chr5:34005885 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.826G>C (p.Ala276Pro) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001963484] Chr5:33989416 [GRCh38]
Chr5:33989521 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.775A>G (p.Met259Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001935846] Chr5:33989467 [GRCh38]
Chr5:33989572 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.364C>T (p.His122Tyr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001887470] Chr5:34005783 [GRCh38]
Chr5:34005888 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.137T>G (p.Leu46Trp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001881177] Chr5:34007883 [GRCh38]
Chr5:34007988 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.370A>G (p.Ile124Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002038360] Chr5:34005777 [GRCh38]
Chr5:34005882 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.89G>A (p.Arg30His) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001885617] Chr5:34007931 [GRCh38]
Chr5:34008036 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.139G>T (p.Gly47Cys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001887556] Chr5:34007881 [GRCh38]
Chr5:34007986 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.874G>A (p.Ala292Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001887959] Chr5:33989368 [GRCh38]
Chr5:33989473 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.908_909delinsAG (p.Val303Glu) indel Alpha-methylacyl-CoA racemase deficiency [RCV001905409] Chr5:33989333..33989334 [GRCh38]
Chr5:33989438..33989439 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.235C>G (p.Pro79Ala) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002046715] Chr5:34007785 [GRCh38]
Chr5:34007890 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.254T>C (p.Met85Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001900551] Chr5:34005893 [GRCh38]
Chr5:34005998 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_33944753)_(34008124_?)dup duplication not provided [RCV001918976] Chr5:33944753..34008124 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.421G>A (p.Glu141Lys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002050669] Chr5:34004705 [GRCh38]
Chr5:34004810 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.818A>G (p.Asp273Gly) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001916531] Chr5:33989424 [GRCh38]
Chr5:33989529 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.848G>C (p.Trp283Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001935066]|Inborn genetic diseases [RCV004041782] Chr5:33989394 [GRCh38]
Chr5:33989499 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.391+3A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001918102] Chr5:34005753 [GRCh38]
Chr5:34005858 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.387G>C (p.Leu129Phe) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002013195] Chr5:34005760 [GRCh38]
Chr5:34005865 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.865G>A (p.Gly289Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002031149]|Inborn genetic diseases [RCV002548982] Chr5:33989377 [GRCh38]
Chr5:33989482 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1082G>A (p.Arg361His) single nucleotide variant AMACR-related disorder [RCV003418243]|Alpha-methylacyl-CoA racemase deficiency [RCV002012048] Chr5:33989160 [GRCh38]
Chr5:33989265 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.317G>A (p.Arg106Lys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001918235]|Inborn genetic diseases [RCV002555430] Chr5:34005830 [GRCh38]
Chr5:34005935 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.941C>T (p.Ser314Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001902724] Chr5:33989301 [GRCh38]
Chr5:33989406 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.514A>G (p.Thr172Ala) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001866654] Chr5:34004612 [GRCh38]
Chr5:34004717 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.203G>T (p.Arg68Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001957970] Chr5:34007817 [GRCh38]
Chr5:34007922 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.944T>A (p.Phe315Tyr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001875506] Chr5:33989298 [GRCh38]
Chr5:33989403 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.553-3A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001955299] Chr5:33998830 [GRCh38]
Chr5:33998935 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.13G>A (p.Gly5Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002015945] Chr5:34008007 [GRCh38]
Chr5:34008112 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.289C>T (p.Arg97Trp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001878294]|not provided [RCV003481144]|not specified [RCV004770232] Chr5:34005858 [GRCh38]
Chr5:34005963 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_33982368)_(33991527_?)del deletion not provided [RCV001951488] Chr5:33982368..33991527 [GRCh37]
Chr5:5p13.2
pathogenic
NM_014324.6(AMACR):c.670A>G (p.Arg224Gly) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001919021] Chr5:33998710 [GRCh38]
Chr5:33998815 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.623G>A (p.Arg208Gln) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001923801] Chr5:33998757 [GRCh38]
Chr5:33998862 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.803A>T (p.Lys268Met) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002028179] Chr5:33989439 [GRCh38]
Chr5:33989544 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.806A>T (p.Lys269Met) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001922453]|Inborn genetic diseases [RCV002554275] Chr5:33989436 [GRCh38]
Chr5:33989541 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.31C>G (p.Leu11Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001982420] Chr5:34007989 [GRCh38]
Chr5:34008094 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.193G>A (p.Val65Met) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002031765] Chr5:34007827 [GRCh38]
Chr5:34007932 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.116C>T (p.Ser39Phe) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001935194] Chr5:34007904 [GRCh38]
Chr5:34008009 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.86C>G (p.Ala29Gly) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001921583] Chr5:34007934 [GRCh38]
Chr5:34008039 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.849G>A (p.Trp283Ter) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001957873] Chr5:33989393 [GRCh38]
Chr5:33989498 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.868A>G (p.Thr290Ala) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001884574] Chr5:33989374 [GRCh38]
Chr5:33989479 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.61G>T (p.Ala21Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001905620] Chr5:34007959 [GRCh38]
Chr5:34008064 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.240C>G (p.Phe80Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001870163] Chr5:34007780 [GRCh38]
Chr5:34007885 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.740-5del deletion Alpha-methylacyl-CoA racemase deficiency [RCV002017282] Chr5:33989507 [GRCh38]
Chr5:33989612 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.561A>T (p.Gly187=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001924155] Chr5:33998819 [GRCh38]
Chr5:33998924 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.635T>C (p.Met212Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001999257]|Inborn genetic diseases [RCV002642061] Chr5:33998745 [GRCh38]
Chr5:33998850 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_33944753)_(34008124_?)del deletion Alpha-methylacyl-CoA racemase deficiency [RCV002018376] Chr5:33944753..34008124 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.547A>G (p.Asn183Asp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001924323] Chr5:34004579 [GRCh38]
Chr5:34004684 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1040dup (p.Glu348fs) duplication Alpha-methylacyl-CoA racemase deficiency [RCV001886114] Chr5:33989201..33989202 [GRCh38]
Chr5:33989306..33989307 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.253A>G (p.Met85Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001961359] Chr5:34005894 [GRCh38]
Chr5:34005999 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1097A>G (p.Gln366Arg) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001973240]|not provided [RCV002261434] Chr5:33989145 [GRCh38]
Chr5:33989250 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.934C>T (p.Arg312Trp) single nucleotide variant AMACR-related disorder [RCV004749773]|Alpha-methylacyl-CoA racemase deficiency [RCV001900983] Chr5:33989308 [GRCh38]
Chr5:33989413 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.572T>A (p.Leu191Ter) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001900890] Chr5:33998808 [GRCh38]
Chr5:33998913 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.544G>A (p.Ala182Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002011780] Chr5:34004582 [GRCh38]
Chr5:34004687 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.774G>C (p.Gln258His) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002050106] Chr5:33989468 [GRCh38]
Chr5:33989573 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1084G>A (p.Glu362Lys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV001932767]|Inborn genetic diseases [RCV004041756] Chr5:33989158 [GRCh38]
Chr5:33989263 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.248-18C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002091936] Chr5:34005917 [GRCh38]
Chr5:34006022 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.248-17G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002071620] Chr5:34005916 [GRCh38]
Chr5:34006021 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.392-34_392-17del deletion Alpha-methylacyl-CoA racemase deficiency [RCV002208711] Chr5:34004751..34004768 [GRCh38]
Chr5:34004856..34004873 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.247+14C>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002125166] Chr5:34007759 [GRCh38]
Chr5:34007864 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.739+18G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002206464] Chr5:33998623 [GRCh38]
Chr5:33998728 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.975C>T (p.Pro325=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002111324] Chr5:33989267 [GRCh38]
Chr5:33989372 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.33G>A (p.Leu11=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002089574] Chr5:34007987 [GRCh38]
Chr5:34008092 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.978C>G (p.Arg326=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002188718] Chr5:33989264 [GRCh38]
Chr5:33989369 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.723C>T (p.Tyr241=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002096654]|Inborn genetic diseases [RCV004641922] Chr5:33998657 [GRCh38]
Chr5:33998762 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.553-13T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002196302] Chr5:33998840 [GRCh38]
Chr5:33998945 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1032T>G (p.Pro344=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002149980] Chr5:33989210 [GRCh38]
Chr5:33989315 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.285G>A (p.Leu95=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002097015] Chr5:34005862 [GRCh38]
Chr5:34005967 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.252C>T (p.Val84=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002175070] Chr5:34005895 [GRCh38]
Chr5:34006000 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.740-17A>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002077551] Chr5:33989519 [GRCh38]
Chr5:33989624 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.594T>G (p.Thr198=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002078953] Chr5:33998786 [GRCh38]
Chr5:33998891 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.248-4T>C single nucleotide variant AMACR-related disorder [RCV003971028]|Alpha-methylacyl-CoA racemase deficiency [RCV002110677] Chr5:34005903 [GRCh38]
Chr5:34006008 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.183G>A (p.Arg61=) single nucleotide variant AMACR-related disorder [RCV004749865]|Alpha-methylacyl-CoA racemase deficiency [RCV002104336] Chr5:34007837 [GRCh38]
Chr5:34007942 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.519C>A (p.Arg173=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002086778] Chr5:34004607 [GRCh38]
Chr5:34004712 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.864C>T (p.Asp288=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002127868] Chr5:33989378 [GRCh38]
Chr5:33989483 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.177G>A (p.Gln59=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002147984] Chr5:34007843 [GRCh38]
Chr5:34007948 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.740-16T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002212127] Chr5:33989518 [GRCh38]
Chr5:33989623 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.459T>C (p.Phe153=) single nucleotide variant AMACR-related disorder [RCV003913662]|Alpha-methylacyl-CoA racemase deficiency [RCV002098655] Chr5:34004667 [GRCh38]
Chr5:34004772 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.33G>C (p.Leu11=) single nucleotide variant AMACR-related disorder [RCV003893160]|Alpha-methylacyl-CoA racemase deficiency [RCV002202345] Chr5:34007987 [GRCh38]
Chr5:34008092 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.345C>T (p.Ser115=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002138539] Chr5:34005802 [GRCh38]
Chr5:34005907 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.739+15C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002159288] Chr5:33998626 [GRCh38]
Chr5:33998731 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.392-16G>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002122833] Chr5:34004750 [GRCh38]
Chr5:34004855 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.1017T>C (p.Ser339=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002135476] Chr5:33989225 [GRCh38]
Chr5:33989330 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.553-14C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002182699] Chr5:33998841 [GRCh38]
Chr5:33998946 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.789T>C (p.Asp263=) single nucleotide variant AMACR-related disorder [RCV004731242]|Alpha-methylacyl-CoA racemase deficiency [RCV002161797] Chr5:33989453 [GRCh38]
Chr5:33989558 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.247+13C>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002143212] Chr5:34007760 [GRCh38]
Chr5:34007865 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.942G>A (p.Ser314=) single nucleotide variant AMACR-related disorder [RCV003978550]|Alpha-methylacyl-CoA racemase deficiency [RCV002202521] Chr5:33989300 [GRCh38]
Chr5:33989405 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.247+7C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002181840] Chr5:34007766 [GRCh38]
Chr5:34007871 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.391+12A>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002157662] Chr5:34005744 [GRCh38]
Chr5:34005849 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.739+7G>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002219981] Chr5:33998634 [GRCh38]
Chr5:33998739 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.553-18T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002155816] Chr5:33998845 [GRCh38]
Chr5:33998950 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1081C>T (p.Arg361Cys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003115850] Chr5:33989161 [GRCh38]
Chr5:33989266 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_34007858)_(34008124_?)del deletion Alpha-methylacyl-CoA racemase deficiency [RCV003116736] Chr5:34007858..34008124 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_33986409)_(33989627_?)dup duplication Alpha-methylacyl-CoA racemase deficiency [RCV003116737] Chr5:33986409..33989627 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.152G>T (p.Arg51Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003121404] Chr5:34007868 [GRCh38]
Chr5:34007973 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.21G>C (p.Ser7=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003121556] Chr5:34007999 [GRCh38]
Chr5:34008104 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.563C>T (p.Thr188Ile) single nucleotide variant Inborn genetic diseases [RCV003164375]|not provided [RCV002261763] Chr5:33998817 [GRCh38]
Chr5:33998922 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.149A>G (p.Lys50Arg) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002290392]|not provided [RCV004809808] Chr5:34007871 [GRCh38]
Chr5:34007976 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11
pathogenic
NM_014324.6(AMACR):c.361_362delinsTT (p.Gly121Phe) indel Alpha-methylacyl-CoA racemase deficiency [RCV002302103] Chr5:34005785..34005786 [GRCh38]
Chr5:34005890..34005891 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.247+12C>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002838218] Chr5:34007761 [GRCh38]
Chr5:34007866 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.984A>G (p.Ala328=) single nucleotide variant AMACR-related disorder [RCV003898499]|Alpha-methylacyl-CoA racemase deficiency [RCV002726962] Chr5:33989258 [GRCh38]
Chr5:33989363 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.30G>A (p.Glu10=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003033554] Chr5:34007990 [GRCh38]
Chr5:34008095 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.961C>G (p.Gln321Glu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002991527] Chr5:33989281 [GRCh38]
Chr5:33989386 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1126A>T (p.Asn376Tyr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003014805] Chr5:33989116 [GRCh38]
Chr5:33989221 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.913C>T (p.His305Tyr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003075918] Chr5:33989329 [GRCh38]
Chr5:33989434 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.553-1G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002996580] Chr5:33998828 [GRCh38]
Chr5:33998933 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1108G>C (p.Asp370His) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002818965] Chr5:33989134 [GRCh38]
Chr5:33989239 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.275del (p.Pro92fs) deletion Alpha-methylacyl-CoA racemase deficiency [RCV002904079] Chr5:34005872 [GRCh38]
Chr5:34005977 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.945T>G (p.Phe315Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002755027] Chr5:33989297 [GRCh38]
Chr5:33989402 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.119G>C (p.Arg40Pro) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002750250] Chr5:34007901 [GRCh38]
Chr5:34008006 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.342_362del (p.Ser115_Gly121del) deletion Alpha-methylacyl-CoA racemase deficiency [RCV002756338] Chr5:34005785..34005805 [GRCh38]
Chr5:34005890..34005910 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.223G>C (p.Val75Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002819138] Chr5:34007797 [GRCh38]
Chr5:34007902 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.255_263del (p.Met85_Leu88delinsIle) deletion Alpha-methylacyl-CoA racemase deficiency [RCV003076294] Chr5:34005884..34005892 [GRCh38]
Chr5:34005989..34005997 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.248-16T>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002613838] Chr5:34005915 [GRCh38]
Chr5:34006020 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.739+17C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002637819] Chr5:33998624 [GRCh38]
Chr5:33998729 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.914A>T (p.His305Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002593063] Chr5:33989328 [GRCh38]
Chr5:33989433 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.552+4A>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002663132] Chr5:34004570 [GRCh38]
Chr5:34004675 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.632A>C (p.Asn211Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002640143]|Inborn genetic diseases [RCV003250561] Chr5:33998748 [GRCh38]
Chr5:33998853 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.846G>T (p.Glu282Asp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002736089] Chr5:33989396 [GRCh38]
Chr5:33989501 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.552+3A>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003019018] Chr5:34004571 [GRCh38]
Chr5:34004676 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.564A>G (p.Thr188=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002636571] Chr5:33998816 [GRCh38]
Chr5:33998921 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.739+3A>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003018878] Chr5:33998638 [GRCh38]
Chr5:33998743 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.303G>A (p.Arg101=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002636765] Chr5:34005844 [GRCh38]
Chr5:34005949 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1025G>C (p.Arg342Thr) single nucleotide variant Inborn genetic diseases [RCV002691620] Chr5:33989217 [GRCh38]
Chr5:33989322 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.222T>C (p.Asp74=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003018460] Chr5:34007798 [GRCh38]
Chr5:34007903 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.124G>A (p.Asp42Asn) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003020223] Chr5:34007896 [GRCh38]
Chr5:34008001 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.740-3C>T single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002569648] Chr5:33989505 [GRCh38]
Chr5:33989610 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.585G>A (p.Leu195=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002847120] Chr5:33998795 [GRCh38]
Chr5:33998900 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.803A>C (p.Lys268Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003079298] Chr5:33989439 [GRCh38]
Chr5:33989544 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1070T>C (p.Phe357Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002695376] Chr5:33989172 [GRCh38]
Chr5:33989277 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.247+11G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002636354] Chr5:34007762 [GRCh38]
Chr5:34007867 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.160G>C (p.Val54Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003025681] Chr5:34007860 [GRCh38]
Chr5:34007965 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.779G>A (p.Ser260Asn) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002712111] Chr5:33989463 [GRCh38]
Chr5:33989568 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.343A>G (p.Ser115Gly) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003059416] Chr5:34005804 [GRCh38]
Chr5:34005909 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.967G>T (p.Val323Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002667242] Chr5:33989275 [GRCh38]
Chr5:33989380 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.517C>T (p.Arg173Cys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002574923]|not provided [RCV004694238] Chr5:34004609 [GRCh38]
Chr5:34004714 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.552+14G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002596626] Chr5:34004560 [GRCh38]
Chr5:34004665 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.*774A>G single nucleotide variant Inborn genetic diseases [RCV002826843] Chr5:33988319 [GRCh38]
Chr5:33988424 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.323G>C (p.Ser108Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002642452] Chr5:34005824 [GRCh38]
Chr5:34005929 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.941C>G (p.Ser314Trp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002711667] Chr5:33989301 [GRCh38]
Chr5:33989406 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.856A>G (p.Ile286Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003006372] Chr5:33989386 [GRCh38]
Chr5:33989491 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.4G>A (p.Ala2Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003005817] Chr5:34008016 [GRCh38]
Chr5:34008121 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.462T>C (p.Ala154=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002889948] Chr5:34004664 [GRCh38]
Chr5:34004769 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.476T>C (p.Met159Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002985483] Chr5:34004650 [GRCh38]
Chr5:34004755 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.633C>T (p.Asn211=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002626016] Chr5:33998747 [GRCh38]
Chr5:33998852 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.740-11T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002664146] Chr5:33989513 [GRCh38]
Chr5:33989618 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.456C>T (p.Asp152=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002663441] Chr5:34004670 [GRCh38]
Chr5:34004775 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.604A>T (p.Ser202Cys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003057616] Chr5:33998776 [GRCh38]
Chr5:33998881 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.496A>G (p.Met166Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002829133] Chr5:34004630 [GRCh38]
Chr5:34004735 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.143G>T (p.Arg48Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003042363] Chr5:34007877 [GRCh38]
Chr5:34007982 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.566C>T (p.Ala189Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003056033] Chr5:33998814 [GRCh38]
Chr5:33998919 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.352C>T (p.Arg118Trp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002643411] Chr5:34005795 [GRCh38]
Chr5:34005900 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.200G>T (p.Arg67Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003025124] Chr5:34007820 [GRCh38]
Chr5:34007925 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.563C>G (p.Thr188Arg) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002642775] Chr5:33998817 [GRCh38]
Chr5:33998922 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.43del (p.Ala15fs) deletion Alpha-methylacyl-CoA racemase deficiency [RCV002710986] Chr5:34007977 [GRCh38]
Chr5:34008082 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.616G>A (p.Ala206Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002851606] Chr5:33998764 [GRCh38]
Chr5:33998869 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.722A>G (p.Tyr241Cys) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002676482]|not specified [RCV003331385] Chr5:33998658 [GRCh38]
Chr5:33998763 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1114A>G (p.Ile372Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002651893] Chr5:33989128 [GRCh38]
Chr5:33989233 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.226C>T (p.Leu76=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003086985] Chr5:34007794 [GRCh38]
Chr5:34007899 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.394G>A (p.Val132Ile) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003065236] Chr5:34004732 [GRCh38]
Chr5:34004837 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.126C>T (p.Asp42=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003088504] Chr5:34007894 [GRCh38]
Chr5:34007999 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.939C>T (p.Gly313=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002647771] Chr5:33989303 [GRCh38]
Chr5:33989408 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.248-18C>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003063503] Chr5:34005917 [GRCh38]
Chr5:34006022 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1003C>T (p.Pro335Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003045759] Chr5:33989239 [GRCh38]
Chr5:33989344 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.391+16del deletion Alpha-methylacyl-CoA racemase deficiency [RCV002963400] Chr5:34005740 [GRCh38]
Chr5:34005845 [GRCh37]
Chr5:5p13.2
benign
NM_014324.6(AMACR):c.255G>A (p.Met85Ile) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002856306] Chr5:34005892 [GRCh38]
Chr5:34005997 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.391+4T>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003087668] Chr5:34005752 [GRCh38]
Chr5:34005857 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.740-13_740-12insTGG insertion Alpha-methylacyl-CoA racemase deficiency [RCV002648117] Chr5:33989514..33989515 [GRCh38]
Chr5:33989619..33989620 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.755C>T (p.Ser252Phe) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002578686] Chr5:33989487 [GRCh38]
Chr5:33989592 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1036A>G (p.Ile346Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003009634] Chr5:33989206 [GRCh38]
Chr5:33989311 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.627A>T (p.Gly209=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002631486] Chr5:33998753 [GRCh38]
Chr5:33998858 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.818A>C (p.Asp273Ala) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003048096] Chr5:33989424 [GRCh38]
Chr5:33989529 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.967G>A (p.Val323Met) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002630351]|Inborn genetic diseases [RCV004065723] Chr5:33989275 [GRCh38]
Chr5:33989380 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_014324.6(AMACR):c.689T>A (p.Phe230Tyr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002651133]|Inborn genetic diseases [RCV004636692] Chr5:33998691 [GRCh38]
Chr5:33998796 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.219G>C (p.Ser73=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002671591] Chr5:34007801 [GRCh38]
Chr5:34007906 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.179C>T (p.Pro60Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002645965] Chr5:34007841 [GRCh38]
Chr5:34007946 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.30G>T (p.Glu10Asp) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002806672] Chr5:34007990 [GRCh38]
Chr5:34008095 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.843A>C (p.Ala281=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002720842] Chr5:33989399 [GRCh38]
Chr5:33989504 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.552+12T>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002810290] Chr5:34004562 [GRCh38]
Chr5:34004667 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1027G>T (p.Asp343Tyr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002653243] Chr5:33989215 [GRCh38]
Chr5:33989320 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.506T>C (p.Phe169Ser) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003067378] Chr5:34004620 [GRCh38]
Chr5:34004725 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.187G>A (p.Ala63Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002584110] Chr5:34007833 [GRCh38]
Chr5:34007938 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.437C>T (p.Pro146Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003108218]|Inborn genetic diseases [RCV002679205]|not provided [RCV003434673] Chr5:34004689 [GRCh38]
Chr5:34004794 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.20C>T (p.Ser7Leu) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002585976] Chr5:34008000 [GRCh38]
Chr5:34008105 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.471C>T (p.Gly157=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002586890] Chr5:34004655 [GRCh38]
Chr5:34004760 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.888G>A (p.Pro296=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003070774] Chr5:33989354 [GRCh38]
Chr5:33989459 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.998_999insACAA (p.Asn333fs) insertion Alpha-methylacyl-CoA racemase deficiency [RCV002942167] Chr5:33989243..33989244 [GRCh38]
Chr5:33989348..33989349 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.19T>A (p.Ser7Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002606946] Chr5:34008001 [GRCh38]
Chr5:34008106 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.38G>T (p.Gly13Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002814657] Chr5:34007982 [GRCh38]
Chr5:34008087 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.37G>C (p.Gly13Arg) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002608002] Chr5:34007983 [GRCh38]
Chr5:34008088 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.538A>G (p.Ile180Val) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV002610611] Chr5:34004588 [GRCh38]
Chr5:34004693 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.520A>G (p.Thr174Ala) single nucleotide variant Inborn genetic diseases [RCV003280128] Chr5:34004606 [GRCh38]
Chr5:34004711 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.704C>T (p.Ala235Val) single nucleotide variant Inborn genetic diseases [RCV003206336] Chr5:33998676 [GRCh38]
Chr5:33998781 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.389C>G (p.Ser130Ter) single nucleotide variant not provided [RCV003141344] Chr5:34005758 [GRCh38]
Chr5:34005863 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.518G>T (p.Arg173Leu) single nucleotide variant Inborn genetic diseases [RCV003381754] Chr5:34004608 [GRCh38]
Chr5:34004713 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.732G>A (p.Leu244=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003505475] Chr5:33998648 [GRCh38]
Chr5:33998753 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
NM_014324.6(AMACR):c.657C>T (p.Phe219=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003505770] Chr5:33998723 [GRCh38]
Chr5:33998828 [GRCh37]
Chr5:5p13.2
likely benign
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12
likely pathogenic
NM_014324.6(AMACR):c.43G>A (p.Ala15Thr) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003873572] Chr5:34007977 [GRCh38]
Chr5:34008082 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.72G>T (p.Leu24=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003505599] Chr5:34007948 [GRCh38]
Chr5:34008053 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.247+16G>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003872638] Chr5:34007757 [GRCh38]
Chr5:34007862 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1119T>C (p.Ile373=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003504870] Chr5:33989123 [GRCh38]
Chr5:33989228 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.228G>A (p.Leu76=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003505360] Chr5:34007792 [GRCh38]
Chr5:34007897 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p13.3-13.2(chr5:33303213-34037349)x3 copy number gain not provided [RCV003484608] Chr5:33303213..34037349 [GRCh37]
Chr5:5p13.3-13.2
uncertain significance
NM_014324.6(AMACR):c.429G>C (p.Pro143=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003880725] Chr5:34004697 [GRCh38]
Chr5:34004802 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p13.2(chr5:33954880-34157068)x1 copy number loss not provided [RCV003485461] Chr5:33954880..34157068 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.983C>T (p.Ala328Val) single nucleotide variant not provided [RCV003481750] Chr5:33989259 [GRCh38]
Chr5:33989364 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.910G>T (p.Val304Phe) single nucleotide variant AMACR-related disorder [RCV003427795] Chr5:33989332 [GRCh38]
Chr5:33989437 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh38/hg38 5p13.2(chr5:33977416-34745466) copy number gain Autism spectrum disorder [RCV003883400] Chr5:33977416..34745466 [GRCh38]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.552+10A>C single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003615196] Chr5:34004564 [GRCh38]
Chr5:34004669 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.774G>A (p.Gln258=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003614429] Chr5:33989468 [GRCh38]
Chr5:33989573 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.21G>A (p.Ser7=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003614466] Chr5:34007999 [GRCh38]
Chr5:34008104 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.727C>T (p.Leu243=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003613756] Chr5:33998653 [GRCh38]
Chr5:33998758 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.669C>T (p.Tyr223=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003615376] Chr5:33998711 [GRCh38]
Chr5:33998816 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.519C>T (p.Arg173=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003852105] Chr5:34004607 [GRCh38]
Chr5:34004712 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.252C>A (p.Val84=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003613598] Chr5:34005895 [GRCh38]
Chr5:34006000 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.247+15C>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003814419] Chr5:34007758 [GRCh38]
Chr5:34007863 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.392-20A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003613700] Chr5:34004754 [GRCh38]
Chr5:34004859 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.740-8T>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003614569] Chr5:33989510 [GRCh38]
Chr5:33989615 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.552+11A>G single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003613790] Chr5:34004563 [GRCh38]
Chr5:34004668 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1026G>A (p.Arg342=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003613594] Chr5:33989216 [GRCh38]
Chr5:33989321 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.108G>T (p.Arg36=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003614699] Chr5:34007912 [GRCh38]
Chr5:34008017 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1002C>T (p.Thr334=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003615198] Chr5:33989240 [GRCh38]
Chr5:33989345 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.39C>G (p.Gly13=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003615379] Chr5:34007981 [GRCh38]
Chr5:34008086 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.1140T>C (p.Ala380=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003866039] Chr5:33989102 [GRCh38]
Chr5:33989207 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.663G>A (p.Thr221=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003854014] Chr5:33998717 [GRCh38]
Chr5:33998822 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p13.2(chr5:33955464-34058555)x1 copy number loss not specified [RCV003986578] Chr5:33955464..34058555 [GRCh37]
Chr5:5p13.2
pathogenic
NM_014324.6(AMACR):c.843A>G (p.Ala281=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003819988]|not provided [RCV003885385] Chr5:33989399 [GRCh38]
Chr5:33989504 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.552+16G>A single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003867716] Chr5:34004558 [GRCh38]
Chr5:34004663 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.637T>C (p.Leu213=) single nucleotide variant Alpha-methylacyl-CoA racemase deficiency [RCV003859137] Chr5:33998743 [GRCh38]
Chr5:33998848 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.724G>A (p.Glu242Lys) single nucleotide variant Inborn genetic diseases [RCV004413921] Chr5:33998656 [GRCh38]
Chr5:33998761 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.108G>A (p.Arg36=) single nucleotide variant AMACR-related disorder [RCV003934643] Chr5:34007912 [GRCh38]
Chr5:34008017 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.876C>A (p.Ala292=) single nucleotide variant AMACR-related disorder [RCV003934777] Chr5:33989366 [GRCh38]
Chr5:33989471 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.290G>A (p.Arg97Gln) single nucleotide variant AMACR-related disorder [RCV003947362] Chr5:34005857 [GRCh38]
Chr5:34005962 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.-3G>A single nucleotide variant AMACR-related disorder [RCV003921787] Chr5:34008022 [GRCh38]
Chr5:34008127 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.9G>T (p.Leu3=) single nucleotide variant AMACR-related disorder [RCV003961911] Chr5:34008011 [GRCh38]
Chr5:34008116 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.264C>A (p.Leu88=) single nucleotide variant AMACR-related disorder [RCV003893867] Chr5:34005883 [GRCh38]
Chr5:34005988 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.899T>C (p.Phe300Ser) single nucleotide variant AMACR-related disorder [RCV003981200] Chr5:33989343 [GRCh38]
Chr5:33989448 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.993G>A (p.Leu331=) single nucleotide variant AMACR-related disorder [RCV003954786] Chr5:33989249 [GRCh38]
Chr5:33989354 [GRCh37]
Chr5:5p13.2
likely benign
NM_014324.6(AMACR):c.230T>A (p.Leu77Gln) single nucleotide variant Inborn genetic diseases [RCV004413904] Chr5:34007790 [GRCh38]
Chr5:34007895 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1 copy number loss See cases [RCV004442838] Chr5:33684931..35652823 [GRCh37]
Chr5:5p13.3-13.2
uncertain significance
NM_014324.6(AMACR):c.824T>C (p.Phe275Ser) single nucleotide variant Inborn genetic diseases [RCV004636313] Chr5:33989418 [GRCh38]
Chr5:33989523 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_33944753)_(33989627_?)dup duplication Alpha-methylacyl-CoA racemase deficiency [RCV004578996] Chr5:33944753..33989627 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.118C>G (p.Arg40Gly) single nucleotide variant AMACR-related disorder [RCV004730631] Chr5:34007902 [GRCh38]
Chr5:34008007 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.170T>G (p.Leu57Arg) single nucleotide variant not provided [RCV004811417] Chr5:34007850 [GRCh38]
Chr5:34007955 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.872_873delinsGG (p.Asp291Gly) indel AMACR-related disorder [RCV004730383] Chr5:33989369..33989370 [GRCh38]
Chr5:33989474..33989475 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_014324.6(AMACR):c.1057A>T (p.Ile353Leu) single nucleotide variant AMACR-related disorder [RCV004731992] Chr5:33989185 [GRCh38]
Chr5:33989290 [GRCh37]
Chr5:5p13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3131
Count of miRNA genes:1011
Interacting mature miRNAs:1164
Transcripts:ENST00000335606, ENST00000382068, ENST00000382072, ENST00000382085, ENST00000426255, ENST00000441713, ENST00000502637, ENST00000506639, ENST00000512079, ENST00000514195
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597150933GWAS1247007_Hskin pigmentation measurement QTL GWAS1247007 (human)2e-09skin pigmentation measurement53399493933994940Human
597324878GWAS1420952_H1,7-dimethylurate measurement QTL GWAS1420952 (human)6e-091,7-dimethylurate measurement53399541033995411Human
597316159GWAS1412233_H1-methylxanthine measurement QTL GWAS1412233 (human)0.0000021-methylxanthine measurement53399541033995411Human
597498651GWAS1594725_Hskin pigmentation measurement QTL GWAS1594725 (human)4e-10skin pigmentation measurement53399242433992425Human
597364093GWAS1460167_Hlongevity QTL GWAS1460167 (human)0.0000001longevity53400133934001340Human
597435478GWAS1531552_H3-hydroxy-2-ethylpropionate measurement, cerebrospinal fluid biomarker measurement QTL GWAS1531552 (human)6e-303-hydroxy-2-ethylpropionate measurement, cerebrospinal fluid biomarker measurementcerebrospinal fluid chemistry measurement (CMO:0001241)53400460234004603Human
407093741GWAS742717_Hhair color QTL GWAS742717 (human)7e-26hair color53398630433986305Human

Markers in Region
RH45195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37533,987,196 - 33,987,323UniSTSGRCh37
Build 36534,022,953 - 34,023,080RGDNCBI36
Celera533,875,626 - 33,875,753RGD
Cytogenetic Map5p13UniSTS
HuRef533,965,156 - 33,965,283UniSTS
GeneMap99-GB4 RH Map5121.98UniSTS
WI-16117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37533,988,772 - 33,988,921UniSTSGRCh37
Build 36534,024,529 - 34,024,678RGDNCBI36
Celera533,877,202 - 33,877,351RGD
Cytogenetic Map5pUniSTS
Cytogenetic Map5p13UniSTS
HuRef533,966,732 - 33,966,881UniSTS
GeneMap99-GB4 RH Map5121.57UniSTS
Whitehead-RH Map5128.7UniSTS
AMACR_3561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37533,988,896 - 33,989,600UniSTSGRCh37
Build 36534,024,653 - 34,025,357RGDNCBI36
Celera533,877,326 - 33,878,030RGD
HuRef533,966,856 - 33,967,560UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA969512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF047020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF158378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ130733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL545355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL571115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY330488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY330489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY935981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG708726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI550368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ941482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA156454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF636492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF636493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF636494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF636495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF636496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ498906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ498907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ498908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ767773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC739427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000335606   ⟹   ENSP00000334424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl533,986,165 - 34,008,050 (-)Ensembl
Ensembl Acc Id: ENST00000382068   ⟹   ENSP00000477108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl533,997,244 - 34,008,028 (-)Ensembl
Ensembl Acc Id: ENST00000382072   ⟹   ENSP00000371504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl533,987,174 - 34,008,031 (-)Ensembl
Ensembl Acc Id: ENST00000382085   ⟹   ENSP00000371517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl533,988,307 - 34,008,028 (-)Ensembl
Ensembl Acc Id: ENST00000426255   ⟹   ENSP00000476965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl533,997,007 - 34,008,084 (-)Ensembl
Ensembl Acc Id: ENST00000502637   ⟹   ENSP00000424351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl533,988,684 - 34,008,104 (-)Ensembl
Ensembl Acc Id: ENST00000506639   ⟹   ENSP00000427227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl533,988,084 - 34,008,031 (-)Ensembl
Ensembl Acc Id: ENST00000512079   ⟹   ENSP00000477411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl533,997,204 - 34,008,028 (-)Ensembl
Ensembl Acc Id: ENST00000514195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl533,988,084 - 34,008,031 (-)Ensembl
RefSeq Acc Id: NM_001167595   ⟹   NP_001161067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38533,986,986 - 34,008,050 (-)NCBI
GRCh37533,987,091 - 34,008,220 (-)ENTREZGENE
HuRef533,965,051 - 33,986,185 (-)ENTREZGENE
CHM1_1533,988,659 - 34,009,789 (-)NCBI
T2T-CHM13v2.0534,108,905 - 34,129,983 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014324   ⟹   NP_055139
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38533,986,165 - 34,008,050 (-)NCBI
GRCh37533,987,091 - 34,008,220 (-)ENTREZGENE
Build 36534,023,652 - 34,043,963 (-)NCBI Archive
HuRef533,965,051 - 33,986,185 (-)ENTREZGENE
CHM1_1533,988,659 - 34,009,789 (-)NCBI
T2T-CHM13v2.0534,108,084 - 34,129,983 (-)NCBI
Sequence:
RefSeq Acc Id: NM_203382   ⟹   NP_976316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38533,986,165 - 34,008,050 (-)NCBI
GRCh37533,987,091 - 34,008,220 (-)ENTREZGENE
Build 36534,023,652 - 34,043,963 (-)NCBI Archive
HuRef533,965,051 - 33,986,185 (-)ENTREZGENE
CHM1_1533,988,659 - 34,009,789 (-)NCBI
T2T-CHM13v2.0534,108,084 - 34,129,983 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001161067 (Get FASTA)   NCBI Sequence Viewer  
  NP_055139 (Get FASTA)   NCBI Sequence Viewer  
  NP_976316 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD10205 (Get FASTA)   NCBI Sequence Viewer  
  AAF22610 (Get FASTA)   NCBI Sequence Viewer  
  AAH09471 (Get FASTA)   NCBI Sequence Viewer  
  AAP35857 (Get FASTA)   NCBI Sequence Viewer  
  AAQ67234 (Get FASTA)   NCBI Sequence Viewer  
  AAQ94259 (Get FASTA)   NCBI Sequence Viewer  
  AAY16192 (Get FASTA)   NCBI Sequence Viewer  
  ABQ59031 (Get FASTA)   NCBI Sequence Viewer  
  ACL67853 (Get FASTA)   NCBI Sequence Viewer  
  ACL67854 (Get FASTA)   NCBI Sequence Viewer  
  ACL67855 (Get FASTA)   NCBI Sequence Viewer  
  BAD96551 (Get FASTA)   NCBI Sequence Viewer  
  BAF85677 (Get FASTA)   NCBI Sequence Viewer  
  BAG50838 (Get FASTA)   NCBI Sequence Viewer  
  BAG51110 (Get FASTA)   NCBI Sequence Viewer  
  CAB44062 (Get FASTA)   NCBI Sequence Viewer  
  CEF39433 (Get FASTA)   NCBI Sequence Viewer  
  EAX10815 (Get FASTA)   NCBI Sequence Viewer  
  EAX10816 (Get FASTA)   NCBI Sequence Viewer  
  EAX10817 (Get FASTA)   NCBI Sequence Viewer  
  EAX10818 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000334424
  ENSP00000334424.6
  ENSP00000371504
  ENSP00000371504.2
  ENSP00000371517
  ENSP00000371517.3
  ENSP00000424351.1
  ENSP00000427227.1
GenBank Protein Q9UHK6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_976316   ⟸   NM_203382
- Peptide Label: isoform 2
- UniProtKB: A8KAC3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161067   ⟸   NM_001167595
- Peptide Label: isoform 3
- UniProtKB: Q53GV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055139   ⟸   NM_014324
- Peptide Label: isoform 1
- UniProtKB: Q96GH1 (UniProtKB/Swiss-Prot),   Q3KT79 (UniProtKB/Swiss-Prot),   O43673 (UniProtKB/Swiss-Prot),   F8W9N1 (UniProtKB/Swiss-Prot),   B8Y918 (UniProtKB/Swiss-Prot),   B8Y916 (UniProtKB/Swiss-Prot),   A5YM47 (UniProtKB/Swiss-Prot),   Q9Y3Q1 (UniProtKB/Swiss-Prot),   Q9UHK6 (UniProtKB/Swiss-Prot),   Q53GV0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000424351   ⟸   ENST00000502637
Ensembl Acc Id: ENSP00000476965   ⟸   ENST00000426255
Ensembl Acc Id: ENSP00000334424   ⟸   ENST00000335606
Ensembl Acc Id: ENSP00000427227   ⟸   ENST00000506639
Ensembl Acc Id: ENSP00000477411   ⟸   ENST00000512079
Ensembl Acc Id: ENSP00000477108   ⟸   ENST00000382068
Ensembl Acc Id: ENSP00000371504   ⟸   ENST00000382072
Ensembl Acc Id: ENSP00000371517   ⟸   ENST00000382085

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UHK6-F1-model_v2 AlphaFold Q9UHK6 1-382 view protein structure

Promoters
RGD ID:6869342
Promoter ID:EPDNEW_H7836
Type:initiation region
Name:AMACR_1
Description:alpha-methylacyl-CoA racemase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7837  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,008,049 - 34,008,109EPDNEW
RGD ID:6869344
Promoter ID:EPDNEW_H7837
Type:single initiation site
Name:AMACR_2
Description:alpha-methylacyl-CoA racemase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7836  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,010,219 - 34,010,279EPDNEW
RGD ID:6802848
Promoter ID:HG_KWN:49924
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001167595,   NM_001167596,   NM_001167597,   NM_001167598,   NM_203382,   OTTHUMT00000207467,   UC003JII.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36534,043,661 - 34,044,161 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:451 AgrOrtholog
COSMIC AMACR COSMIC
Ensembl Genes ENSG00000242110 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000335606 ENTREZGENE
  ENST00000335606.11 UniProtKB/Swiss-Prot
  ENST00000382072 ENTREZGENE
  ENST00000382072.6 UniProtKB/Swiss-Prot
  ENST00000382085 ENTREZGENE
  ENST00000382085.7 UniProtKB/Swiss-Prot
  ENST00000502637.5 UniProtKB/TrEMBL
  ENST00000506639.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.1540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000242110 GTEx
HGNC ID HGNC:451 ENTREZGENE
Human Proteome Map AMACR Human Proteome Map
InterPro CoA-transferase_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CoA-Trfase_fam_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CoA-Trfase_III_dom3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CoA-Trfase_III_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23600 UniProtKB/Swiss-Prot
NCBI Gene 23600 ENTREZGENE
OMIM 604489 OMIM
PANTHER ALPHA-METHYLACYL-COA RACEMASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUCCINYL-COA--D-CITRAMALATE COA-TRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CoA_transf_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24757 PharmGKB
Superfamily-SCOP SSF89796 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5YM47 ENTREZGENE
  A8KAC3 ENTREZGENE, UniProtKB/TrEMBL
  AMACR_HUMAN UniProtKB/Swiss-Prot
  B8Y916 ENTREZGENE
  B8Y918 ENTREZGENE
  D6RB81_HUMAN UniProtKB/TrEMBL
  F8W9N1 ENTREZGENE
  O43673 ENTREZGENE
  Q3KT79 ENTREZGENE
  Q53GV0 ENTREZGENE, UniProtKB/TrEMBL
  Q96GH1 ENTREZGENE
  Q9UHK6 ENTREZGENE
  Q9Y3Q1 ENTREZGENE
UniProt Secondary A5YM47 UniProtKB/Swiss-Prot
  B8Y916 UniProtKB/Swiss-Prot
  B8Y918 UniProtKB/Swiss-Prot
  F8W9N1 UniProtKB/Swiss-Prot
  O43673 UniProtKB/Swiss-Prot
  Q3KT79 UniProtKB/Swiss-Prot
  Q96GH1 UniProtKB/Swiss-Prot
  Q9Y3Q1 UniProtKB/Swiss-Prot