DGAT1 (diacylglycerol O-acyltransferase 1) - Rat Genome Database

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Gene: DGAT1 (diacylglycerol O-acyltransferase 1) Homo sapiens
Analyze
Symbol: DGAT1
Name: diacylglycerol O-acyltransferase 1
RGD ID: 731052
HGNC Page HGNC:2843
Description: Enables diacylglycerol O-acyltransferase activity and identical protein binding activity. Involved in diacylglycerol metabolic process; monoacylglycerol biosynthetic process; and very-low-density lipoprotein particle assembly. Acts upstream of or within triglyceride biosynthetic process. Located in membrane. Implicated in cardiomyopathy and congenital diarrhea 7 with exudative enteropathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACAT related gene product 1; ACAT-related gene product 1; acyl coenzyme A:cholesterol acyltransferase related gene 1; acyl-CoA retinol O-fatty-acyltransferase; acyl-CoA:diacylglycerol acyltransferase; ARAT; ARGP1; DGAT; diacylglycerol O-acyltransferase (mouse) homolog; diacylglycerol O-acyltransferase homolog; diacylglycerol O-acyltransferase homolog 1; DIAR7; diglyceride acyltransferase; retinol O-fatty-acyltransferase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,314,584 - 144,326,852 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,314,584 - 144,326,910 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,538,247 - 145,550,515 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,510,762 - 145,521,375 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,510,762 - 145,521,350NCBI
Celera8141,713,015 - 141,725,223 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,652,765 - 140,665,081 (-)NCBIHuRef
CHM1_18145,576,522 - 145,588,858 (-)NCBICHM1_1
T2T-CHM13v2.08145,483,219 - 145,495,487 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
alcohol  (ISO)
all-trans-retinol  (EXP)
amiodarone  (EXP,ISO)
amlexanox  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
apigenin  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atorvastatin calcium  (ISO)
baicalein  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzylpenicillin  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (ISO)
carbendazim  (ISO)
chlorothalonil  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
choline  (ISO)
ciglitazone  (ISO)
cisplatin  (EXP)
clofazimine  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
dexamethasone  (EXP,ISO)
diazinon  (EXP)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
difenoconazole  (ISO)
dioscin  (ISO)
doxorubicin  (EXP,ISO)
erythromycin A  (ISO)
ethanol  (EXP,ISO)
farnesol  (EXP)
fluoxetine  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fructose  (ISO)
glutathione  (ISO)
glycidyl methacrylate  (EXP)
GW 4064  (EXP)
hexadecanoic acid  (ISO)
hydrogen peroxide  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
lead(0)  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (ISO)
liraglutide  (ISO)
menadione  (EXP)
methotrexate  (EXP)
mevalonic acid  (ISO)
microcystin-LR  (ISO)
Monobutylphthalate  (ISO)
nefazodone  (ISO)
O-methyleugenol  (EXP)
oleic acid  (EXP)
omeprazole  (ISO)
ozone  (EXP)
palmitoyl-CoA  (EXP)
paracetamol  (EXP,ISO)
penconazole  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
procymidone  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sucrose  (ISO)
sulforaphane  (EXP)
tectoridin  (ISO)
testosterone  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triptonide  (ISO)
Tris(2-ethylhexyl) phosphate  (EXP)
troglitazone  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Targeting Acyl-CoA:diacylglycerol acyltransferase 1 (DGAT1) with small molecule inhibitors for the treatment of metabolic diseases. Cao J, etal., J Biol Chem. 2011 Dec 2;286(48):41838-51. doi: 10.1074/jbc.M111.245456. Epub 2011 Oct 11.
2. Role of the DGAT gene C79T single-nucleotide polymorphism in French obese subjects. Coudreau SK, etal., Obes Res. 2003 Oct;11(10):1163-7.
3. Microarray analysis of the infrapatellar fat pad in knee osteoarthritis: relationship with joint inflammation. Gandhi R, etal., J Rheumatol. 2011 Sep;38(9):1966-72. Epub 2011 Jul 15.
4. Alterations in the lipid metabolism of rat aorta: effects of vitamin a deficiency. Gatica LV, etal., J Vasc Res. 2006;43(6):602-10. doi: 10.1159/000096247. Epub 2006 Oct 13.
5. A murine model of isolated cardiac steatosis leads to cardiomyopathy. Glenn DJ, etal., Hypertension. 2011 Feb;57(2):216-22. doi: 10.1161/HYPERTENSIONAHA.110.160655. Epub 2011 Jan 10.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Dysregulation of hepatic fatty acid metabolism in chronic kidney disease. Jin K, etal., Nephrol Dial Transplant. 2013 Feb;28(2):313-20. doi: 10.1093/ndt/gfs350. Epub 2012 Oct 8.
8. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
9. DGAT1 promoter polymorphism associated with alterations in body mass index, high density lipoprotein levels and blood pressure in Turkish women. Ludwig EH, etal., Clin Genet. 2002 Jul;62(1):68-73.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat. Smith SJ, etal., Nat Genet 2000 May;25(1):87-90.
17. Up-regulation of hepatic Acyl CoA: Diacylglycerol acyltransferase-1 (DGAT-1) expression in nephrotic syndrome. Vaziri ND, etal., Kidney Int. 2004 Jul;66(1):262-7.
18. Diacylglycerol acyltranferase 1 anti-sense oligonucleotides reduce hepatic fibrosis in mice with nonalcoholic steatohepatitis. Yamaguchi K, etal., Hepatology. 2008 Feb;47(2):625-35.
19. Validation of diacyl glycerolacyltransferase I as a novel target for the treatment of obesity and dyslipidemia using a potent and selective small molecule inhibitor. Zhao G, etal., J Med Chem. 2008 Feb 14;51(3):380-3. doi: 10.1021/jm7013887. Epub 2008 Jan 10.
Additional References at PubMed
PMID:3104518   PMID:8889548   PMID:8944226   PMID:9756920   PMID:9789033   PMID:11181995   PMID:11672446   PMID:11959864   PMID:12401709   PMID:12477932   PMID:14557275   PMID:15258194  
PMID:15308631   PMID:15380446   PMID:15489334   PMID:16214399   PMID:16306352   PMID:16870193   PMID:16894240   PMID:17510710   PMID:18238778   PMID:18458083   PMID:18757836   PMID:18768481  
PMID:19197254   PMID:20167659   PMID:20935628   PMID:21369919   PMID:21846726   PMID:21873635   PMID:21988832   PMID:22748069   PMID:23114594   PMID:23317570   PMID:23420847   PMID:24118885  
PMID:24573674   PMID:24899196   PMID:25740267   PMID:26186194   PMID:26493024   PMID:26638075   PMID:26883093   PMID:28298427   PMID:28373485   PMID:28420705   PMID:28514442   PMID:28768178  
PMID:28877685   PMID:29509190   PMID:29604290   PMID:30095213   PMID:30790345   PMID:30816200   PMID:30853196   PMID:31527615   PMID:31778854   PMID:32433610   PMID:32433611   PMID:32559414  
PMID:33750350   PMID:33824421   PMID:33961781   PMID:34095320   PMID:35256949   PMID:35696571   PMID:35764091   PMID:36603576   PMID:37516308   PMID:37779421   PMID:37820117   PMID:37973951  
PMID:38500157  


Genomics

Comparative Map Data
DGAT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,314,584 - 144,326,852 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,314,584 - 144,326,910 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,538,247 - 145,550,515 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,510,762 - 145,521,375 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,510,762 - 145,521,350NCBI
Celera8141,713,015 - 141,725,223 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,652,765 - 140,665,081 (-)NCBIHuRef
CHM1_18145,576,522 - 145,588,858 (-)NCBICHM1_1
T2T-CHM13v2.08145,483,219 - 145,495,487 (-)NCBIT2T-CHM13v2.0
Dgat1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,386,215 - 76,396,167 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,386,215 - 76,396,153 (-)EnsemblGRCm39 Ensembl
GRCm381576,502,012 - 76,512,021 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,502,015 - 76,511,953 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,332,445 - 76,342,248 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,329,270 - 76,339,073 (-)NCBIMGSCv36mm8
Celera1578,002,555 - 78,012,327 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.99NCBI
Dgat1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,104,514 - 110,119,091 (-)NCBIGRCr8
mRatBN7.27108,223,860 - 108,235,413 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,218,524 - 108,234,299 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7109,968,232 - 109,978,722 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,191,929 - 112,202,419 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,150,296 - 112,160,779 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,566,363 - 117,576,735 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,566,368 - 117,576,737 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,553,994 - 117,564,366 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,552,051 - 114,562,423 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17114,586,280 - 114,596,650 (-)NCBI
Celera7104,575,393 - 104,585,762 (-)NCBICelera
Cytogenetic Map7q34NCBI
Dgat1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,934,152 - 2,944,492 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,933,904 - 2,944,675 (-)NCBIChiLan1.0ChiLan1.0
DGAT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27161,803,409 - 161,817,182 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,333,356 - 137,347,545 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08141,079,948 - 141,090,619 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18144,069,450 - 144,080,155 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,064,587 - 144,080,155 (-)Ensemblpanpan1.1panPan2
DGAT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,745,395 - 37,761,337 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,741,706 - 37,756,916 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,708,975 - 37,723,874 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,221,616 - 38,236,548 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,216,686 - 38,236,374 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11337,913,768 - 37,928,659 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,022,406 - 38,037,326 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,498,732 - 38,513,659 (-)NCBIUU_Cfam_GSD_1.0
Dgat1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303490,312 - 499,990 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364707,916,438 - 7,926,088 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364707,916,438 - 7,926,089 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DGAT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4452,662 - 466,684 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14452,890 - 463,665 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24599,685 - 609,272 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DGAT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,531,113 - 138,541,721 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,531,384 - 138,541,637 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660391,321,925 - 1,332,539 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dgat1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473512,525,284 - 12,535,193 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473512,525,120 - 12,535,436 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DGAT1
581 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) deletion Congenital diarrhea 7 with exudative enteropathy [RCV000660629]|See cases [RCV002252199]|not provided [RCV001584520] Chr8:144318306..144318308 [GRCh38]
Chr8:145541969..145541971 [GRCh37]
Chr8:8q24.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_012079.6(DGAT1):c.751+2T>C single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV000128413]|Inborn genetic diseases [RCV001266236]|not provided [RCV001382858] Chr8:144318093 [GRCh38]
Chr8:145541756 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.805C>T (p.Arg269Cys) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV001331728] Chr8:144317964 [GRCh38]
Chr8:145541627 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.884T>C (p.Leu295Pro) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV000201459] Chr8:144317794 [GRCh38]
Chr8:145541457 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3		 benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
NM_012079.6(DGAT1):c.1311+1G>A single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV002463454]|not provided [RCV000579284] Chr8:144316852 [GRCh38]
Chr8:145540515 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_012079.6(DGAT1):c.1462del (p.Ala488fs) deletion Congenital diarrhea 7 with exudative enteropathy [RCV002463455]|not provided [RCV000599300] Chr8:144316559 [GRCh38]
Chr8:145540222 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145487123-145554934)x3 copy number gain See cases [RCV000445849] Chr8:145487123..145554934 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1260C>G (p.Ser420Arg) single nucleotide variant not provided [RCV000436889] Chr8:144316904 [GRCh38]
Chr8:145540567 [GRCh37]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
NM_012079.6(DGAT1):c.797A>G (p.Asn266Ser) single nucleotide variant DGAT1-related condition [RCV003960126]|not provided [RCV000483585] Chr8:144317972 [GRCh38]
Chr8:145541635 [GRCh37]
Chr8:8q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012079.6(DGAT1):c.676+1G>A single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV002463449]|not provided [RCV000481953] Chr8:144318260 [GRCh38]
Chr8:145541923 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_012079.6(DGAT1):c.579C>T (p.Gly193=) single nucleotide variant not provided [RCV001510558]|not specified [RCV000454601] Chr8:144318358 [GRCh38]
Chr8:145542021 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.455A>G (p.Lys152Arg) single nucleotide variant not provided [RCV001517545]|not specified [RCV000455264] Chr8:144318712 [GRCh38]
Chr8:145542375 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_012079.6(DGAT1):c.743C>A (p.Thr248Asn) single nucleotide variant not provided [RCV001510557]|not specified [RCV000455982] Chr8:144318103 [GRCh38]
Chr8:145541766 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.1007TCT[2] (p.Phe338del) microsatellite not provided [RCV000486981] Chr8:144317412..144317414 [GRCh38]
Chr8:145541075..145541077 [GRCh37]
Chr8:8q24.3		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145536497-145562111)x1 copy number loss not provided [RCV000748012] Chr8:145536497..145562111 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145536497-145567438)x1 copy number loss not provided [RCV000748013] Chr8:145536497..145567438 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145536497-145567872)x1 copy number loss not provided [RCV000748014] Chr8:145536497..145567872 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145536497-145574608)x1 copy number loss not provided [RCV000748015] Chr8:145536497..145574608 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145537235-145567438)x1 copy number loss not provided [RCV000748016] Chr8:145537235..145567438 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145537339-145561963)x3 copy number gain not provided [RCV000748017] Chr8:145537339..145561963 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145537339-145562215)x1 copy number loss not provided [RCV000748018] Chr8:145537339..145562215 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.1049C>T (p.Ala350Val) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV003315219] Chr8:144317378 [GRCh38]
Chr8:145541041 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.1454C>T (p.Ala485Val) single nucleotide variant not provided [RCV000914877]|not specified [RCV001729745] Chr8:144316567 [GRCh38]
Chr8:145540230 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.1050T>G (p.Ala350=) single nucleotide variant not provided [RCV000923502] Chr8:144317377 [GRCh38]
Chr8:145541040 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1407C>T (p.Val469=) single nucleotide variant DGAT1-related condition [RCV003958037]|not provided [RCV000895944] Chr8:144316614 [GRCh38]
Chr8:145540277 [GRCh37]
Chr8:8q24.3		 benign|likely benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.889del (p.Gln297fs) deletion Congenital diarrhea 7 with exudative enteropathy [RCV000988126] Chr8:144317789 [GRCh38]
Chr8:145541452 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV000988127]|not provided [RCV001858686] Chr8:144317931 [GRCh38]
Chr8:145541594 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
NM_012079.6(DGAT1):c.981+1G>T single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV000844890]|not provided [RCV001858446] Chr8:144317543 [GRCh38]
Chr8:145541206 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.1310A>G (p.Gln437Arg) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV000844891] Chr8:144316854 [GRCh38]
Chr8:145540517 [GRCh37]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_012079.6(DGAT1):c.5del (p.Gly2fs) deletion Congenital diarrhea 7 with exudative enteropathy [RCV001007932]|not provided [RCV003688893] Chr8:144326632 [GRCh38]
Chr8:145550295 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_012079.6(DGAT1):c.-39= single nucleotide variant not provided [RCV001675077] Chr8:144326675 [GRCh38]
Chr8:145550338 [GRCh37]
Chr8:8q24.3		 benign
NC_000008.11:g.144327213A>C single nucleotide variant not provided [RCV001665978] Chr8:144327213 [GRCh38]
Chr8:145550876 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.1401A>T (p.Ile467=) single nucleotide variant not provided [RCV000975200] Chr8:144316620 [GRCh38]
Chr8:145540283 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.677-4G>A single nucleotide variant DGAT1-related condition [RCV003936014]|not provided [RCV000966374] Chr8:144318173 [GRCh38]
Chr8:145541836 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_012079.6(DGAT1):c.468+46C>T single nucleotide variant not provided [RCV001617134] Chr8:144318653 [GRCh38]
Chr8:145542316 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NC_000008.11:g.144327017= single nucleotide variant not provided [RCV001611067] Chr8:144327017 [GRCh38]
Chr8:145550680 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.1073G>C (p.Arg358Pro) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV001250059] Chr8:144317354 [GRCh38]
Chr8:145541017 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1312-4del deletion not provided [RCV002001522] Chr8:144316713 [GRCh38]
Chr8:145540376 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_012079.6(DGAT1):c.634C>T (p.Arg212Cys) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV001331727]|not provided [RCV001871823] Chr8:144318303 [GRCh38]
Chr8:145541966 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.856-2A>G single nucleotide variant not provided [RCV001964278] Chr8:144317824 [GRCh38]
Chr8:145541487 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.713C>T (p.Pro238Leu) single nucleotide variant not provided [RCV001341598] Chr8:144318133 [GRCh38]
Chr8:145541796 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.772G>A (p.Ala258Thr) single nucleotide variant not provided [RCV001302410] Chr8:144317997 [GRCh38]
Chr8:145541660 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1094G>A (p.Trp365Ter) single nucleotide variant not provided [RCV001382624] Chr8:144317333 [GRCh38]
Chr8:145540996 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.408G>A (p.Leu136=) single nucleotide variant not provided [RCV001412504] Chr8:144318842 [GRCh38]
Chr8:145542505 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1374G>A (p.Trp458Ter) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV001732137]|not provided [RCV001361756] Chr8:144316647 [GRCh38]
Chr8:145540310 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance
NM_012079.6(DGAT1):c.1215_1216del (p.Phe408fs) deletion Congenital diarrhea 7 with exudative enteropathy [RCV003315272] Chr8:144317054..144317055 [GRCh38]
Chr8:145540717..145540718 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_012079.6(DGAT1):c.149C>A (p.Ala50Asp) single nucleotide variant not provided [RCV001371366] Chr8:144326488 [GRCh38]
Chr8:145550151 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.626T>C (p.Phe209Ser) single nucleotide variant not provided [RCV001309677] Chr8:144318311 [GRCh38]
Chr8:145541974 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.200+4G>A single nucleotide variant not provided [RCV001324917] Chr8:144326433 [GRCh38]
Chr8:145550096 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1094+17_1094+27del microsatellite not provided [RCV001295804] Chr8:144317306..144317316 [GRCh38]
Chr8:145540969..145540979 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.443T>G (p.Phe148Cys) single nucleotide variant not provided [RCV001299994] Chr8:144318724 [GRCh38]
Chr8:145542387 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.748C>T (p.Arg250Cys) single nucleotide variant not provided [RCV001367399] Chr8:144318098 [GRCh38]
Chr8:145541761 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.820C>A (p.Arg274=) single nucleotide variant not provided [RCV001359629] Chr8:144317949 [GRCh38]
Chr8:145541612 [GRCh37]
Chr8:8q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_012079.6(DGAT1):c.1329C>T (p.Phe443=) single nucleotide variant not provided [RCV001450421] Chr8:144316692 [GRCh38]
Chr8:145540355 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.792G>A (p.Glu264=) single nucleotide variant not provided [RCV001522948] Chr8:144317977 [GRCh38]
Chr8:145541640 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.1311+9C>T single nucleotide variant DGAT1-related condition [RCV003938870]|not provided [RCV001487742] Chr8:144316844 [GRCh38]
Chr8:145540507 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.751+17del deletion not provided [RCV001496112] Chr8:144318078 [GRCh38]
Chr8:145541741 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1464C>T (p.Ala488=) single nucleotide variant not provided [RCV001402683] Chr8:144316557 [GRCh38]
Chr8:145540220 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1335C>T (p.Gly445=) single nucleotide variant not provided [RCV001520237] Chr8:144316686 [GRCh38]
Chr8:145540349 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.981+11A>C single nucleotide variant not provided [RCV001462029] Chr8:144317533 [GRCh38]
Chr8:145541196 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.289-4G>A single nucleotide variant not provided [RCV001415743] Chr8:144319072 [GRCh38]
Chr8:145542735 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.855+9G>C single nucleotide variant not provided [RCV001449520] Chr8:144317905 [GRCh38]
Chr8:145541568 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200+18C>T single nucleotide variant not provided [RCV001519517] Chr8:144326419 [GRCh38]
Chr8:145550082 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.1094+13G>C single nucleotide variant not provided [RCV001457664] Chr8:144317320 [GRCh38]
Chr8:145540983 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1094+16del deletion not provided [RCV001509720] Chr8:144317317 [GRCh38]
Chr8:145540980 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.288+264C>T single nucleotide variant not provided [RCV001716730] Chr8:144321057 [GRCh38]
Chr8:145544720 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.465G>A (p.Ala155=) single nucleotide variant not provided [RCV001513564] Chr8:144318702 [GRCh38]
Chr8:145542365 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.856-3C>T single nucleotide variant not provided [RCV001512640] Chr8:144317825 [GRCh38]
Chr8:145541488 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_012079.6(DGAT1):c.921C>T (p.Ser307=) single nucleotide variant not provided [RCV001399478] Chr8:144317686 [GRCh38]
Chr8:145541349 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.415+10G>A single nucleotide variant not provided [RCV001501669] Chr8:144318825 [GRCh38]
Chr8:145542488 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.330-14C>A single nucleotide variant not provided [RCV001523053] Chr8:144318934 [GRCh38]
Chr8:145542597 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.789C>T (p.Tyr263=) single nucleotide variant not provided [RCV001514956] Chr8:144317980 [GRCh38]
Chr8:145541643 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.21C>T (p.Ser7=) single nucleotide variant not provided [RCV001519160] Chr8:144326616 [GRCh38]
Chr8:145550279 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.1422C>T (p.His474=) single nucleotide variant not provided [RCV001517813] Chr8:144316599 [GRCh38]
Chr8:145540262 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.200+11G>T single nucleotide variant not provided [RCV001428132] Chr8:144326426 [GRCh38]
Chr8:145550089 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.109G>A (p.Gly37Ser) single nucleotide variant not provided [RCV001947380] Chr8:144326528 [GRCh38]
Chr8:145550191 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.805_*341del (p.Arg269fs) deletion Congenital diarrhea 7 with exudative enteropathy [RCV001823013] Chr8:144316213..144317964 [GRCh38]
Chr8:145539876..145541627 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.602A>G (p.His201Arg) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV001823497] Chr8:144318335 [GRCh38]
Chr8:145541998 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.278T>C (p.Val93Ala) single nucleotide variant not provided [RCV001948937] Chr8:144321331 [GRCh38]
Chr8:145544994 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.842G>A (p.Arg281Gln) single nucleotide variant not provided [RCV001864472] Chr8:144317927 [GRCh38]
Chr8:145541590 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1459G>A (p.Glu487Lys) single nucleotide variant not provided [RCV001896770] Chr8:144316562 [GRCh38]
Chr8:145540225 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1139C>T (p.Pro380Leu) single nucleotide variant not provided [RCV001948965] Chr8:144317208 [GRCh38]
Chr8:145540871 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.712C>T (p.Pro238Ser) single nucleotide variant Inborn genetic diseases [RCV002548688]|not provided [RCV001863826] Chr8:144318134 [GRCh38]
Chr8:145541797 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1296G>A (p.Thr432=) single nucleotide variant not provided [RCV002045192] Chr8:144316868 [GRCh38]
Chr8:145540531 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_012079.6(DGAT1):c.488C>T (p.Ala163Val) single nucleotide variant Inborn genetic diseases [RCV002561372]|not provided [RCV001929638] Chr8:144318547 [GRCh38]
Chr8:145542210 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_012079.6(DGAT1):c.184G>C (p.Gly62Arg) single nucleotide variant not provided [RCV002044420] Chr8:144326453 [GRCh38]
Chr8:145550116 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1216G>A (p.Gly406Arg) single nucleotide variant not provided [RCV001970749] Chr8:144317054 [GRCh38]
Chr8:145540717 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1162C>T (p.His388Tyr) single nucleotide variant not provided [RCV001874750] Chr8:144317108 [GRCh38]
Chr8:145540771 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1233G>A (p.Ser411=) single nucleotide variant not provided [RCV001971706] Chr8:144317037 [GRCh38]
Chr8:145540700 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_012079.6(DGAT1):c.936+6T>C single nucleotide variant not provided [RCV001863696] Chr8:144317665 [GRCh38]
Chr8:145541328 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_012079.6(DGAT1):c.1311+4A>G single nucleotide variant not provided [RCV002022761] Chr8:144316849 [GRCh38]
Chr8:145540512 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.95G>T (p.Arg32Leu) single nucleotide variant not provided [RCV001967754] Chr8:144326542 [GRCh38]
Chr8:145550205 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.574+5G>A single nucleotide variant not provided [RCV001911694] Chr8:144318456 [GRCh38]
Chr8:145542119 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_012079.6(DGAT1):c.894+4A>G single nucleotide variant not provided [RCV002005439] Chr8:144317780 [GRCh38]
Chr8:145541443 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1142T>C (p.Val381Ala) single nucleotide variant not provided [RCV002042142] Chr8:144317205 [GRCh38]
Chr8:145540868 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.322C>G (p.Leu108Val) single nucleotide variant not provided [RCV001945825] Chr8:144319035 [GRCh38]
Chr8:145542698 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.964C>T (p.Arg322Cys) single nucleotide variant not provided [RCV002042768] Chr8:144317561 [GRCh38]
Chr8:145541224 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.868C>T (p.Gln290Ter) single nucleotide variant not provided [RCV001982836] Chr8:144317810 [GRCh38]
Chr8:145541473 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.1270C>T (p.Arg424Ter) single nucleotide variant not provided [RCV002039874] Chr8:144316894 [GRCh38]
Chr8:145540557 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.179G>A (p.Gly60Asp) single nucleotide variant not provided [RCV001911099] Chr8:144326458 [GRCh38]
Chr8:145550121 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1337_1338delinsAT (p.Arg446His) indel not provided [RCV001969568] Chr8:144316683..144316684 [GRCh38]
Chr8:145540346..145540347 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.479C>T (p.Thr160Met) single nucleotide variant not provided [RCV001948810] Chr8:144318556 [GRCh38]
Chr8:145542219 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.57CGG[5] (p.Gly23dup) microsatellite not provided [RCV001966499] Chr8:144326568..144326569 [GRCh38]
Chr8:145550231..145550232 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.590C>T (p.Ala197Val) single nucleotide variant not provided [RCV001913120] Chr8:144318347 [GRCh38]
Chr8:145542010 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1336C>T (p.Arg446Cys) single nucleotide variant not provided [RCV001968671] Chr8:144316685 [GRCh38]
Chr8:145540348 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.750C>T (p.Arg250=) single nucleotide variant DGAT1-related condition [RCV003958441]|not provided [RCV002004913] Chr8:144318096 [GRCh38]
Chr8:145541759 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_012079.6(DGAT1):c.425T>C (p.Val142Ala) single nucleotide variant not provided [RCV001892012] Chr8:144318742 [GRCh38]
Chr8:145542405 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.809C>A (p.Ser270Tyr) single nucleotide variant not provided [RCV001927809] Chr8:144317960 [GRCh38]
Chr8:145541623 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.656G>A (p.Arg219His) single nucleotide variant not provided [RCV001926860] Chr8:144318281 [GRCh38]
Chr8:145541944 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.505G>A (p.Val169Met) single nucleotide variant not provided [RCV002041188] Chr8:144318530 [GRCh38]
Chr8:145542193 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.856-3C>G single nucleotide variant not provided [RCV002001163] Chr8:144317825 [GRCh38]
Chr8:145541488 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1462G>A (p.Ala488Thr) single nucleotide variant not provided [RCV001905049] Chr8:144316559 [GRCh38]
Chr8:145540222 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.981+3G>T single nucleotide variant not provided [RCV001931356] Chr8:144317541 [GRCh38]
Chr8:145541204 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.812C>G (p.Pro271Arg) single nucleotide variant not provided [RCV002049795] Chr8:144317957 [GRCh38]
Chr8:145541620 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.688AAG[1] (p.Lys231del) microsatellite not provided [RCV001937271] Chr8:144318153..144318155 [GRCh38]
Chr8:145541816..145541818 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.444C>T (p.Phe148=) single nucleotide variant not provided [RCV001941987] Chr8:144318723 [GRCh38]
Chr8:145542386 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1417G>A (p.Val473Ile) single nucleotide variant not provided [RCV001958405] Chr8:144316604 [GRCh38]
Chr8:145540267 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.937-10G>A single nucleotide variant not provided [RCV001963481] Chr8:144317598 [GRCh38]
Chr8:145541261 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.751G>A (p.Asp251Asn) single nucleotide variant not provided [RCV001980819] Chr8:144318095 [GRCh38]
Chr8:145541758 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.44G>A (p.Arg15Gln) single nucleotide variant not provided [RCV001915990] Chr8:144326593 [GRCh38]
Chr8:145550256 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.472G>A (p.Ala158Thr) single nucleotide variant not provided [RCV002020163] Chr8:144318563 [GRCh38]
Chr8:145542226 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.599C>T (p.Ala200Val) single nucleotide variant not provided [RCV001878564] Chr8:144318338 [GRCh38]
Chr8:145542001 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.6C>T (p.Gly2=) single nucleotide variant not provided [RCV002000268] Chr8:144326631 [GRCh38]
Chr8:145550294 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_012079.6(DGAT1):c.95G>A (p.Arg32Gln) single nucleotide variant not provided [RCV001932233] Chr8:144326542 [GRCh38]
Chr8:145550205 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.841C>A (p.Arg281=) single nucleotide variant not provided [RCV002046753] Chr8:144317928 [GRCh38]
Chr8:145541591 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_012079.6(DGAT1):c.1243C>T (p.His415Tyr) single nucleotide variant not provided [RCV001882289] Chr8:144317027 [GRCh38]
Chr8:145540690 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.670A>G (p.Lys224Glu) single nucleotide variant not provided [RCV001989861] Chr8:144318267 [GRCh38]
Chr8:145541930 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.655C>T (p.Arg219Cys) single nucleotide variant not provided [RCV001932529] Chr8:144318282 [GRCh38]
Chr8:145541945 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.480G>A (p.Thr160=) single nucleotide variant not provided [RCV002050937] Chr8:144318555 [GRCh38]
Chr8:145542218 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1187G>A (p.Arg396Gln) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV003146325]|not provided [RCV001932646] Chr8:144317083 [GRCh38]
Chr8:145540746 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.422A>G (p.Asn141Ser) single nucleotide variant not provided [RCV002012014] Chr8:144318745 [GRCh38]
Chr8:145542408 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1450_1452del (p.Pro484del) deletion not provided [RCV001919474] Chr8:144316569..144316571 [GRCh38]
Chr8:145540232..145540234 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.457C>T (p.Arg153Cys) single nucleotide variant not provided [RCV002009579] Chr8:144318710 [GRCh38]
Chr8:145542373 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.955A>G (p.Ile319Val) single nucleotide variant not provided [RCV002048824] Chr8:144317570 [GRCh38]
Chr8:145541233 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1405G>A (p.Val469Ile) single nucleotide variant not provided [RCV002048845] Chr8:144316616 [GRCh38]
Chr8:145540279 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3		 uncertain significance|no classifications from unflagged records
NM_012079.6(DGAT1):c.1194C>A (p.Ser398Arg) single nucleotide variant not provided [RCV001886233] Chr8:144317076 [GRCh38]
Chr8:145540739 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.185G>C (p.Gly62Ala) single nucleotide variant not provided [RCV001916379] Chr8:144326452 [GRCh38]
Chr8:145550115 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.452A>G (p.Glu151Gly) single nucleotide variant not provided [RCV001973946] Chr8:144318715 [GRCh38]
Chr8:145542378 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.814C>T (p.Arg272Cys) single nucleotide variant not provided [RCV001906380] Chr8:144317955 [GRCh38]
Chr8:145541618 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.530_531del (p.Cys177fs) microsatellite not provided [RCV001955860] Chr8:144318504..144318505 [GRCh38]
Chr8:145542167..145542168 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.151C>T (p.Pro51Ser) single nucleotide variant not provided [RCV002010578] Chr8:144326486 [GRCh38]
Chr8:145550149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.727T>C (p.Tyr243His) single nucleotide variant not provided [RCV001953243] Chr8:144318119 [GRCh38]
Chr8:145541782 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.610C>T (p.Leu204Phe) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV002266067]|Inborn genetic diseases [RCV002562118]|not provided [RCV001934026] Chr8:144318327 [GRCh38]
Chr8:145541990 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.208C>T (p.Arg70Cys) single nucleotide variant not provided [RCV001935405] Chr8:144321401 [GRCh38]
Chr8:145545064 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145540217)_(145550299_?)dup duplication not provided [RCV001922895] Chr8:145540217..145550299 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.699C>G (p.Ser233Arg) single nucleotide variant not provided [RCV001904888] Chr8:144318147 [GRCh38]
Chr8:145541810 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1160G>A (p.Arg387Lys) single nucleotide variant not provided [RCV001879586] Chr8:144317187 [GRCh38]
Chr8:145540850 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.35C>A (p.Thr12Lys) single nucleotide variant not provided [RCV001973572] Chr8:144326602 [GRCh38]
Chr8:145550265 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1160+1G>A single nucleotide variant not provided [RCV001978173] Chr8:144317186 [GRCh38]
Chr8:145540849 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.416C>T (p.Ala139Val) single nucleotide variant not provided [RCV001959526] Chr8:144318751 [GRCh38]
Chr8:145542414 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.691_692delinsGC (p.Lys231Ala) indel not provided [RCV002018673] Chr8:144318154..144318155 [GRCh38]
Chr8:145541817..145541818 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.721G>A (p.Val241Met) single nucleotide variant not provided [RCV001958424] Chr8:144318125 [GRCh38]
Chr8:145541788 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.574G>A (p.Val192Met) single nucleotide variant not provided [RCV002010465] Chr8:144318461 [GRCh38]
Chr8:145542124 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.539C>T (p.Ala180Val) single nucleotide variant not provided [RCV001884929] Chr8:144318496 [GRCh38]
Chr8:145542159 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.540_542dup (p.Ala181dup) duplication not provided [RCV001926197] Chr8:144318492..144318493 [GRCh38]
Chr8:145542155..145542156 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144990345)_(145584675_?)dup duplication not provided [RCV001940184] Chr8:144990345..145584675 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.961G>A (p.Glu321Lys) single nucleotide variant Inborn genetic diseases [RCV002555748]|not provided [RCV001930316] Chr8:144317564 [GRCh38]
Chr8:145541227 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.894+1G>T single nucleotide variant not provided [RCV002032963] Chr8:144317783 [GRCh38]
Chr8:145541446 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.430G>T (p.Ala144Ser) single nucleotide variant not provided [RCV001870490] Chr8:144318737 [GRCh38]
Chr8:145542400 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.440C>G (p.Ala147Gly) single nucleotide variant not provided [RCV001977735] Chr8:144318727 [GRCh38]
Chr8:145542390 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.694G>A (p.Ala232Thr) single nucleotide variant not provided [RCV002047159] Chr8:144318152 [GRCh38]
Chr8:145541815 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.779C>A (p.Thr260Asn) single nucleotide variant not provided [RCV001876999] Chr8:144317990 [GRCh38]
Chr8:145541653 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.416-4A>G single nucleotide variant not provided [RCV002085460] Chr8:144318755 [GRCh38]
Chr8:145542418 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.591G>A (p.Ala197=) single nucleotide variant not provided [RCV002075419] Chr8:144318346 [GRCh38]
Chr8:145542009 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.768C>T (p.Leu256=) single nucleotide variant not provided [RCV002185021] Chr8:144318001 [GRCh38]
Chr8:145541664 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.969C>T (p.Leu323=) single nucleotide variant not provided [RCV002190734] Chr8:144317556 [GRCh38]
Chr8:145541219 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1431C>T (p.Tyr477=) single nucleotide variant not provided [RCV002208322] Chr8:144316590 [GRCh38]
Chr8:145540253 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-3del deletion not provided [RCV002109227] Chr8:144317825 [GRCh38]
Chr8:145541488 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.432T>C (p.Ala144=) single nucleotide variant DGAT1-related condition [RCV003913668]|not provided [RCV002107740] Chr8:144318735 [GRCh38]
Chr8:145542398 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_012079.6(DGAT1):c.1311+15C>T single nucleotide variant not provided [RCV002166342] Chr8:144316838 [GRCh38]
Chr8:145540501 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.540G>A (p.Ala180=) single nucleotide variant not provided [RCV002108492] Chr8:144318495 [GRCh38]
Chr8:145542158 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.468+14C>T single nucleotide variant not provided [RCV002165816] Chr8:144318685 [GRCh38]
Chr8:145542348 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.672G>A (p.Lys224=) single nucleotide variant not provided [RCV002129449] Chr8:144318265 [GRCh38]
Chr8:145541928 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1185A>G (p.Arg395=) single nucleotide variant not provided [RCV002130391] Chr8:144317085 [GRCh38]
Chr8:145540748 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.567C>T (p.Ile189=) single nucleotide variant not provided [RCV002097293] Chr8:144318468 [GRCh38]
Chr8:145542131 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.720C>T (p.Thr240=) single nucleotide variant not provided [RCV002170871] Chr8:144318126 [GRCh38]
Chr8:145541789 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.469-8C>T single nucleotide variant not provided [RCV002113242] Chr8:144318574 [GRCh38]
Chr8:145542237 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.738T>C (p.Asn246=) single nucleotide variant not provided [RCV002095771] Chr8:144318108 [GRCh38]
Chr8:145541771 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-19CT[2] microsatellite not provided [RCV002196207] Chr8:144317836..144317837 [GRCh38]
Chr8:145541499..145541500 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.895-14G>A single nucleotide variant not provided [RCV002189625] Chr8:144317726 [GRCh38]
Chr8:145541389 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.937-15G>A single nucleotide variant not provided [RCV002193529] Chr8:144317603 [GRCh38]
Chr8:145541266 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.751+10T>C single nucleotide variant not provided [RCV002215417] Chr8:144318085 [GRCh38]
Chr8:145541748 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.636C>T (p.Arg212=) single nucleotide variant DGAT1-related condition [RCV003958596]|not provided [RCV002215453] Chr8:144318301 [GRCh38]
Chr8:145541964 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1077G>A (p.Glu359=) single nucleotide variant not provided [RCV002079719] Chr8:144317350 [GRCh38]
Chr8:145541013 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1249-19T>C single nucleotide variant not provided [RCV002135152] Chr8:144316934 [GRCh38]
Chr8:145540597 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200+17C>G single nucleotide variant not provided [RCV002114604] Chr8:144326420 [GRCh38]
Chr8:145550083 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.329+8C>T single nucleotide variant not provided [RCV002213153] Chr8:144319020 [GRCh38]
Chr8:145542683 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1161-12C>T single nucleotide variant not provided [RCV002134759] Chr8:144317121 [GRCh38]
Chr8:145540784 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.200+17C>T single nucleotide variant not provided [RCV002194295] Chr8:144326420 [GRCh38]
Chr8:145550083 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.981+9G>A single nucleotide variant DGAT1-related condition [RCV003913538]|not provided [RCV002165292] Chr8:144317535 [GRCh38]
Chr8:145541198 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1260C>T (p.Ser420=) single nucleotide variant not provided [RCV002132601] Chr8:144316904 [GRCh38]
Chr8:145540567 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1455G>A (p.Ala485=) single nucleotide variant not provided [RCV002213382] Chr8:144316566 [GRCh38]
Chr8:145540229 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.732G>A (p.Pro244=) single nucleotide variant not provided [RCV002094884] Chr8:144318114 [GRCh38]
Chr8:145541777 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.537A>G (p.Pro179=) single nucleotide variant not provided [RCV002196453] Chr8:144318498 [GRCh38]
Chr8:145542161 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.630C>T (p.Ser210=) single nucleotide variant not provided [RCV002080103] Chr8:144318307 [GRCh38]
Chr8:145541970 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1245C>T (p.His415=) single nucleotide variant not provided [RCV002088143] Chr8:144317025 [GRCh38]
Chr8:145540688 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.149C>T (p.Ala50Val) single nucleotide variant not provided [RCV002190127] Chr8:144326488 [GRCh38]
Chr8:145550151 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1160+8G>A single nucleotide variant not provided [RCV002212609] Chr8:144317179 [GRCh38]
Chr8:145540842 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.147G>A (p.Pro49=) single nucleotide variant not provided [RCV002206677] Chr8:144326490 [GRCh38]
Chr8:145550153 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1160+11T>G single nucleotide variant not provided [RCV002150551] Chr8:144317176 [GRCh38]
Chr8:145540839 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1095-3dup duplication Congenital diarrhea 7 with exudative enteropathy [RCV003225762]|DGAT1-related condition [RCV003958740]|not provided [RCV002115992] Chr8:144317254..144317255 [GRCh38]
Chr8:145540917..145540918 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_012079.6(DGAT1):c.681T>G (p.Ser227=) single nucleotide variant not provided [RCV002096804] Chr8:144318165 [GRCh38]
Chr8:145541828 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-3dup duplication not provided [RCV002211776] Chr8:144317824..144317825 [GRCh38]
Chr8:145541487..145541488 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.1161-14C>T single nucleotide variant not provided [RCV002078129] Chr8:144317123 [GRCh38]
Chr8:145540786 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1455G>T (p.Ala485=) single nucleotide variant not provided [RCV002193545] Chr8:144316566 [GRCh38]
Chr8:145540229 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982-18C>A single nucleotide variant not provided [RCV002132660] Chr8:144317463 [GRCh38]
Chr8:145541126 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1389C>T (p.Ile463=) single nucleotide variant not provided [RCV002192547] Chr8:144316632 [GRCh38]
Chr8:145540295 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.984C>T (p.Val328=) single nucleotide variant not provided [RCV002195263] Chr8:144317443 [GRCh38]
Chr8:145541106 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-13A>G single nucleotide variant not provided [RCV002157308] Chr8:144318030 [GRCh38]
Chr8:145541693 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1404C>T (p.Ala468=) single nucleotide variant not provided [RCV002123194] Chr8:144316617 [GRCh38]
Chr8:145540280 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.895-17G>C single nucleotide variant not provided [RCV002157947] Chr8:144317729 [GRCh38]
Chr8:145541392 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1094+10C>T single nucleotide variant not provided [RCV002200002] Chr8:144317323 [GRCh38]
Chr8:145540986 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.894+10G>A single nucleotide variant not provided [RCV002123568] Chr8:144317774 [GRCh38]
Chr8:145541437 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.291C>T (p.Ile97=) single nucleotide variant not provided [RCV002179559] Chr8:144319066 [GRCh38]
Chr8:145542729 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_012079.6(DGAT1):c.640G>A (p.Val214Ile) single nucleotide variant not provided [RCV002103024] Chr8:144318297 [GRCh38]
Chr8:145541960 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.575-14C>T single nucleotide variant not provided [RCV002203591] Chr8:144318376 [GRCh38]
Chr8:145542039 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-20C>T single nucleotide variant not provided [RCV002163315] Chr8:144318189 [GRCh38]
Chr8:145541852 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.600G>A (p.Ala200=) single nucleotide variant not provided [RCV002220738] Chr8:144318337 [GRCh38]
Chr8:145542000 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.289-17C>T single nucleotide variant not provided [RCV002135966] Chr8:144319085 [GRCh38]
Chr8:145542748 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1312-16G>A single nucleotide variant not provided [RCV002124229] Chr8:144316725 [GRCh38]
Chr8:145540388 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.288+19C>T single nucleotide variant not provided [RCV002159055] Chr8:144321302 [GRCh38]
Chr8:145544965 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.639C>T (p.Asp213=) single nucleotide variant not provided [RCV002161107] Chr8:144318298 [GRCh38]
Chr8:145541961 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.415+8G>A single nucleotide variant not provided [RCV002176714] Chr8:144318827 [GRCh38]
Chr8:145542490 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1317A>G (p.Pro439=) single nucleotide variant not provided [RCV002157518] Chr8:144316704 [GRCh38]
Chr8:145540367 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200+20C>T single nucleotide variant not provided [RCV002140513] Chr8:144326417 [GRCh38]
Chr8:145550080 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.781T>C (p.Leu261=) single nucleotide variant not provided [RCV002140612] Chr8:144317988 [GRCh38]
Chr8:145541651 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.102C>A (p.Ala34=) single nucleotide variant not provided [RCV002140872] Chr8:144326535 [GRCh38]
Chr8:145550198 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.937-13C>T single nucleotide variant not provided [RCV002135954] Chr8:144317601 [GRCh38]
Chr8:145541264 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.289-5C>T single nucleotide variant DGAT1-related condition [RCV003960923]|not provided [RCV002198783] Chr8:144319073 [GRCh38]
Chr8:145542736 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.663C>G (p.Ala221=) single nucleotide variant not provided [RCV002199546] Chr8:144318274 [GRCh38]
Chr8:145541937 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.129G>A (p.Ala43=) single nucleotide variant not provided [RCV002175796] Chr8:144326508 [GRCh38]
Chr8:145550171 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.960C>T (p.Ile320=) single nucleotide variant not provided [RCV002158402] Chr8:144317565 [GRCh38]
Chr8:145541228 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.574+11A>G single nucleotide variant not provided [RCV002136146] Chr8:144318450 [GRCh38]
Chr8:145542113 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.895-20C>T single nucleotide variant not provided [RCV002181618] Chr8:144317732 [GRCh38]
Chr8:145541395 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-8C>T single nucleotide variant not provided [RCV002160155] Chr8:144317830 [GRCh38]
Chr8:145541493 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.594G>A (p.Leu198=) single nucleotide variant not provided [RCV002184775] Chr8:144318343 [GRCh38]
Chr8:145542006 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.873C>T (p.Leu291=) single nucleotide variant not provided [RCV003118323] Chr8:144317805 [GRCh38]
Chr8:145541468 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-5C>G single nucleotide variant not provided [RCV003118130] Chr8:144318174 [GRCh38]
Chr8:145541837 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1183C>T (p.Arg395Ter) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV002249860]|not provided [RCV003718458] Chr8:144317087 [GRCh38]
Chr8:145540750 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.719_737dup (p.Leu247fs) duplication Congenital diarrhea 7 with exudative enteropathy [RCV002249861] Chr8:144318108..144318109 [GRCh38]
Chr8:145541771..145541772 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.140del (p.Pro47fs) deletion Congenital diarrhea 7 with exudative enteropathy [RCV002283911] Chr8:144326497 [GRCh38]
Chr8:145550160 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.365C>T (p.Ser122Phe) single nucleotide variant Inborn genetic diseases [RCV003299306] Chr8:144318885 [GRCh38]
Chr8:145542548 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1416C>T (p.Tyr472=) single nucleotide variant not provided [RCV002681556] Chr8:144316605 [GRCh38]
Chr8:145540268 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.540G>T (p.Ala180=) single nucleotide variant not provided [RCV002681315] Chr8:144318495 [GRCh38]
Chr8:145542158 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.314T>C (p.Leu105Pro) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV002463474] Chr8:144319043 [GRCh38]
Chr8:145542706 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.1161-6C>T single nucleotide variant not provided [RCV003011985] Chr8:144317115 [GRCh38]
Chr8:145540778 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.692A>C (p.Lys231Thr) single nucleotide variant Inborn genetic diseases [RCV002731939] Chr8:144318154 [GRCh38]
Chr8:145541817 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.176_178dup (p.Val59_Gly60insVal) duplication not provided [RCV003014679] Chr8:144326458..144326459 [GRCh38]
Chr8:145550121..145550122 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1186C>T (p.Arg396Trp) single nucleotide variant not provided [RCV002613826] Chr8:144317084 [GRCh38]
Chr8:145540747 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.980C>G (p.Ala327Gly) single nucleotide variant not provided [RCV002750827] Chr8:144317545 [GRCh38]
Chr8:145541208 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1006A>G (p.Ile336Val) single nucleotide variant not provided [RCV002616799] Chr8:144317421 [GRCh38]
Chr8:145541084 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.864C>T (p.Phe288=) single nucleotide variant not provided [RCV002726312] Chr8:144317814 [GRCh38]
Chr8:145541477 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1248+4A>G single nucleotide variant not provided [RCV002775054] Chr8:144317018 [GRCh38]
Chr8:145540681 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.430G>C (p.Ala144Pro) single nucleotide variant Inborn genetic diseases [RCV002841775] Chr8:144318737 [GRCh38]
Chr8:145542400 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1346A>G (p.Gln449Arg) single nucleotide variant not provided [RCV002839446] Chr8:144316675 [GRCh38]
Chr8:145540338 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1161-13C>T single nucleotide variant not provided [RCV002614233] Chr8:144317122 [GRCh38]
Chr8:145540785 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-15C>G single nucleotide variant not provided [RCV003017280] Chr8:144318184 [GRCh38]
Chr8:145541847 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.417G>A (p.Ala139=) single nucleotide variant not provided [RCV002730494] Chr8:144318750 [GRCh38]
Chr8:145542413 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1330G>A (p.Val444Met) single nucleotide variant not provided [RCV002618622] Chr8:144316691 [GRCh38]
Chr8:145540354 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.97G>A (p.Asp33Asn) single nucleotide variant Inborn genetic diseases [RCV002777743] Chr8:144326540 [GRCh38]
Chr8:145550203 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.188A>C (p.His63Pro) single nucleotide variant not provided [RCV002685616] Chr8:144326449 [GRCh38]
Chr8:145550112 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1249-12C>T single nucleotide variant not provided [RCV003013570] Chr8:144316927 [GRCh38]
Chr8:145540590 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1425C>T (p.Asp475=) single nucleotide variant not provided [RCV003016109] Chr8:144316596 [GRCh38]
Chr8:145540259 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1362C>T (p.Asn454=) single nucleotide variant not provided [RCV002617560] Chr8:144316659 [GRCh38]
Chr8:145540322 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.661G>A (p.Ala221Thr) single nucleotide variant not provided [RCV002614792] Chr8:144318276 [GRCh38]
Chr8:145541939 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.662C>G (p.Ala221Gly) single nucleotide variant not provided [RCV003014310] Chr8:144318275 [GRCh38]
Chr8:145541938 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.894+18G>A single nucleotide variant not provided [RCV002726360] Chr8:144317766 [GRCh38]
Chr8:145541429 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.458G>C (p.Arg153Pro) single nucleotide variant not provided [RCV002908287] Chr8:144318709 [GRCh38]
Chr8:145542372 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.40T>G (p.Ser14Ala) single nucleotide variant Inborn genetic diseases [RCV002779182] Chr8:144326597 [GRCh38]
Chr8:145550260 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.952C>T (p.Arg318Cys) single nucleotide variant not provided [RCV002615387] Chr8:144317573 [GRCh38]
Chr8:145541236 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.691A>G (p.Lys231Glu) single nucleotide variant Inborn genetic diseases [RCV002990765] Chr8:144318155 [GRCh38]
Chr8:145541818 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1254G>C (p.Leu418=) single nucleotide variant not provided [RCV002882050] Chr8:144316910 [GRCh38]
Chr8:145540573 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.305G>A (p.Arg102Gln) single nucleotide variant not provided [RCV003080377] Chr8:144319052 [GRCh38]
Chr8:145542715 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1299C>T (p.Gly433=) single nucleotide variant not provided [RCV002658877] Chr8:144316865 [GRCh38]
Chr8:145540528 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.915G>C (p.Gln305His) single nucleotide variant Inborn genetic diseases [RCV002692150] Chr8:144317692 [GRCh38]
Chr8:145541355 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.591G>C (p.Ala197=) single nucleotide variant not provided [RCV002914049] Chr8:144318346 [GRCh38]
Chr8:145542009 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.466G>A (p.Val156Met) single nucleotide variant not provided [RCV002593220] Chr8:144318701 [GRCh38]
Chr8:145542364 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.575-13A>G single nucleotide variant not provided [RCV002590345] Chr8:144318375 [GRCh38]
Chr8:145542038 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.201-7_201-6del microsatellite not provided [RCV002705378] Chr8:144321414..144321415 [GRCh38]
Chr8:145545077..145545078 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1148del (p.Lys383fs) deletion not provided [RCV002797390] Chr8:144317199 [GRCh38]
Chr8:145540862 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.397G>A (p.Ala133Thr) single nucleotide variant not provided [RCV002569737] Chr8:144318853 [GRCh38]
Chr8:145542516 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.330-3del deletion not provided [RCV002795996] Chr8:144318923 [GRCh38]
Chr8:145542586 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.936+20T>C single nucleotide variant not provided [RCV002571677] Chr8:144317651 [GRCh38]
Chr8:145541314 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.7G>T (p.Asp3Tyr) single nucleotide variant Inborn genetic diseases [RCV002738030] Chr8:144326630 [GRCh38]
Chr8:145550293 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.52A>T (p.Ser18Cys) single nucleotide variant Inborn genetic diseases [RCV002619953]|not provided [RCV002619952] Chr8:144326585 [GRCh38]
Chr8:145550248 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.278T>A (p.Val93Glu) single nucleotide variant not provided [RCV002735299] Chr8:144321331 [GRCh38]
Chr8:145544994 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.937-1G>A single nucleotide variant not provided [RCV003079091] Chr8:144317589 [GRCh38]
Chr8:145541252 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.611T>A (p.Leu204His) single nucleotide variant not provided [RCV002913717] Chr8:144318326 [GRCh38]
Chr8:145541989 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.819C>G (p.Ile273Met) single nucleotide variant not provided [RCV002590454] Chr8:144317950 [GRCh38]
Chr8:145541613 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.719C>G (p.Thr240Ser) single nucleotide variant not provided [RCV003055287] Chr8:144318127 [GRCh38]
Chr8:145541790 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1412T>C (p.Met471Thr) single nucleotide variant not provided [RCV002569754] Chr8:144316609 [GRCh38]
Chr8:145540272 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.201-35_201-15del deletion not provided [RCV003019350] Chr8:144321423..144321443 [GRCh38]
Chr8:145545086..145545106 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1337G>A (p.Arg446His) single nucleotide variant not provided [RCV002985686] Chr8:144316684 [GRCh38]
Chr8:145540347 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1348G>A (p.Gly450Ser) single nucleotide variant not provided [RCV003023845] Chr8:144316673 [GRCh38]
Chr8:145540336 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.982-42_982-10del deletion not provided [RCV002595103] Chr8:144317455..144317487 [GRCh38]
Chr8:145541118..145541150 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.574+17C>T single nucleotide variant not provided [RCV002626807] Chr8:144318444 [GRCh38]
Chr8:145542107 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.409G>C (p.Val137Leu) single nucleotide variant Inborn genetic diseases [RCV003004039] Chr8:144318841 [GRCh38]
Chr8:145542504 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1095G>A (p.Trp365Ter) single nucleotide variant not provided [RCV002508906] Chr8:144317252 [GRCh38]
Chr8:145540915 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.174C>T (p.Gly58=) single nucleotide variant not provided [RCV002894236] Chr8:144326463 [GRCh38]
Chr8:145550126 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1312-13C>T single nucleotide variant not provided [RCV003005022] Chr8:144316722 [GRCh38]
Chr8:145540385 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1085G>A (p.Arg362Gln) single nucleotide variant not provided [RCV002766569] Chr8:144317342 [GRCh38]
Chr8:145541005 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.981+19C>T single nucleotide variant not provided [RCV002574028] Chr8:144317525 [GRCh38]
Chr8:145541188 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1248+17dup duplication not provided [RCV002894357] Chr8:144317004..144317005 [GRCh38]
Chr8:145540667..145540668 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.201-15G>T single nucleotide variant not provided [RCV002741367] Chr8:144321423 [GRCh38]
Chr8:145545086 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200+5C>T single nucleotide variant not provided [RCV002623506] Chr8:144326432 [GRCh38]
Chr8:145550095 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1344C>T (p.Phe448=) single nucleotide variant not provided [RCV002890788] Chr8:144316677 [GRCh38]
Chr8:145540340 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.11G>C (p.Arg4Pro) single nucleotide variant not provided [RCV003040117] Chr8:144326626 [GRCh38]
Chr8:145550289 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1050T>C (p.Ala350=) single nucleotide variant not provided [RCV002929174] Chr8:144317377 [GRCh38]
Chr8:145541040 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.609C>T (p.Ile203=) single nucleotide variant not provided [RCV002954135] Chr8:144318328 [GRCh38]
Chr8:145541991 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1084C>T (p.Arg362Trp) single nucleotide variant not provided [RCV003006291] Chr8:144317343 [GRCh38]
Chr8:145541006 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.937G>A (p.Asp313Asn) single nucleotide variant not provided [RCV002667009] Chr8:144317588 [GRCh38]
Chr8:145541251 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.469-11C>A single nucleotide variant not provided [RCV002828665] Chr8:144318577 [GRCh38]
Chr8:145542240 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982G>A (p.Val328Ile) single nucleotide variant not provided [RCV002667591] Chr8:144317445 [GRCh38]
Chr8:145541108 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.554T>C (p.Leu185Pro) single nucleotide variant not provided [RCV002597124] Chr8:144318481 [GRCh38]
Chr8:145542144 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.982-11C>T single nucleotide variant not provided [RCV003059632] Chr8:144317456 [GRCh38]
Chr8:145541119 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.203G>A (p.Cys68Tyr) single nucleotide variant not provided [RCV002594659] Chr8:144321406 [GRCh38]
Chr8:145545069 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.894+4A>C single nucleotide variant not provided [RCV002574635] Chr8:144317780 [GRCh38]
Chr8:145541443 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1161-4G>A single nucleotide variant not provided [RCV002894269] Chr8:144317113 [GRCh38]
Chr8:145540776 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.509C>T (p.Ala170Val) single nucleotide variant not provided [RCV002741861] Chr8:144318526 [GRCh38]
Chr8:145542189 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.658A>G (p.Arg220Gly) single nucleotide variant not provided [RCV002851124] Chr8:144318279 [GRCh38]
Chr8:145541942 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1020G>A (p.Trp340Ter) single nucleotide variant not provided [RCV002741110] Chr8:144317407 [GRCh38]
Chr8:145541070 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.22C>A (p.Arg8=) single nucleotide variant not provided [RCV002967240] Chr8:144326615 [GRCh38]
Chr8:145550278 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-5C>T single nucleotide variant not provided [RCV002629349] Chr8:144318174 [GRCh38]
Chr8:145541837 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1295C>T (p.Thr432Met) single nucleotide variant not provided [RCV002966057] Chr8:144316869 [GRCh38]
Chr8:145540532 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1368T>C (p.Ala456=) single nucleotide variant not provided [RCV002633121] Chr8:144316653 [GRCh38]
Chr8:145540316 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.751+8C>G single nucleotide variant not provided [RCV003065090] Chr8:144318087 [GRCh38]
Chr8:145541750 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-14C>A single nucleotide variant not provided [RCV003047729] Chr8:144318031 [GRCh38]
Chr8:145541694 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-16T>C single nucleotide variant not provided [RCV002675861] Chr8:144318185 [GRCh38]
Chr8:145541848 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1312-5C>T single nucleotide variant not provided [RCV002598325] Chr8:144316714 [GRCh38]
Chr8:145540377 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1224C>T (p.Phe408=) single nucleotide variant not provided [RCV002650402] Chr8:144317046 [GRCh38]
Chr8:145540709 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1104G>T (p.Glu368Asp) single nucleotide variant not provided [RCV002966767] Chr8:144317243 [GRCh38]
Chr8:145540906 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1095-16G>C single nucleotide variant not provided [RCV002581514] Chr8:144317268 [GRCh38]
Chr8:145540931 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-20G>A single nucleotide variant not provided [RCV002580600] Chr8:144317842 [GRCh38]
Chr8:145541505 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1373G>C (p.Trp458Ser) single nucleotide variant not provided [RCV002721028] Chr8:144316648 [GRCh38]
Chr8:145540311 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1443T>C (p.Tyr481=) single nucleotide variant not provided [RCV002627944] Chr8:144316578 [GRCh38]
Chr8:145540241 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.150C>G (p.Ala50=) single nucleotide variant not provided [RCV002716439] Chr8:144326487 [GRCh38]
Chr8:145550150 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1053G>A (p.Glu351=) single nucleotide variant not provided [RCV002599639] Chr8:144317374 [GRCh38]
Chr8:145541037 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1128C>G (p.Asn376Lys) single nucleotide variant Inborn genetic diseases [RCV002748585] Chr8:144317219 [GRCh38]
Chr8:145540882 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1249-4T>C single nucleotide variant not provided [RCV002629885] Chr8:144316919 [GRCh38]
Chr8:145540582 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.144C>T (p.Ala48=) single nucleotide variant not provided [RCV002578354] Chr8:144326493 [GRCh38]
Chr8:145550156 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.624C>T (p.Leu208=) single nucleotide variant not provided [RCV003027114] Chr8:144318313 [GRCh38]
Chr8:145541976 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.902T>C (p.Val301Ala) single nucleotide variant Inborn genetic diseases [RCV002901022] Chr8:144317705 [GRCh38]
Chr8:145541368 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1449C>A (p.Ala483=) single nucleotide variant not provided [RCV002580852] Chr8:144316572 [GRCh38]
Chr8:145540235 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.306G>A (p.Arg102=) single nucleotide variant not provided [RCV002672264] Chr8:144319051 [GRCh38]
Chr8:145542714 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200G>C (p.Arg67Thr) single nucleotide variant not provided [RCV002791657] Chr8:144326437 [GRCh38]
Chr8:145550100 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.289-9C>G single nucleotide variant not provided [RCV002631022] Chr8:144319077 [GRCh38]
Chr8:145542740 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1044C>T (p.Ala348=) single nucleotide variant not provided [RCV002598628] Chr8:144317383 [GRCh38]
Chr8:145541046 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1427A>C (p.Tyr476Ser) single nucleotide variant Inborn genetic diseases [RCV002897531] Chr8:144316594 [GRCh38]
Chr8:145540257 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.445C>T (p.Gln149Ter) single nucleotide variant not provided [RCV002631838] Chr8:144318722 [GRCh38]
Chr8:145542385 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.795C>T (p.Leu265=) single nucleotide variant not provided [RCV003062932] Chr8:144317974 [GRCh38]
Chr8:145541637 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1311+2T>C single nucleotide variant not provided [RCV002715386] Chr8:144316851 [GRCh38]
Chr8:145540514 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.201G>T (p.Arg67Ser) single nucleotide variant not provided [RCV002937387] Chr8:144321408 [GRCh38]
Chr8:145545071 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.228C>T (p.Phe76=) single nucleotide variant not provided [RCV002647637] Chr8:144321381 [GRCh38]
Chr8:145545044 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.583C>T (p.Leu195=) single nucleotide variant not provided [RCV003061996] Chr8:144318354 [GRCh38]
Chr8:145542017 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1140T>C (p.Pro380=) single nucleotide variant not provided [RCV003049822] Chr8:144317207 [GRCh38]
Chr8:145540870 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1011C>T (p.Phe337=) single nucleotide variant not provided [RCV002944276] Chr8:144317416 [GRCh38]
Chr8:145541079 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_012079.6(DGAT1):c.1095-7C>T single nucleotide variant not provided [RCV003067502] Chr8:144317259 [GRCh38]
Chr8:145540922 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.751+5G>A single nucleotide variant not provided [RCV002609175] Chr8:144318090 [GRCh38]
Chr8:145541753 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.749G>T (p.Arg250Leu) single nucleotide variant Inborn genetic diseases [RCV002604920]|not provided [RCV002604919] Chr8:144318097 [GRCh38]
Chr8:145541760 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.17G>A (p.Ser6Asn) single nucleotide variant not provided [RCV002608332] Chr8:144326620 [GRCh38]
Chr8:145550283 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.504C>T (p.His168=) single nucleotide variant not provided [RCV002585944] Chr8:144318531 [GRCh38]
Chr8:145542194 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.812C>T (p.Pro271Leu) single nucleotide variant not provided [RCV002583148] Chr8:144317957 [GRCh38]
Chr8:145541620 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.304C>T (p.Arg102Trp) single nucleotide variant not provided [RCV002586047] Chr8:144319053 [GRCh38]
Chr8:145542716 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.200+7G>C single nucleotide variant not provided [RCV002587019] Chr8:144326430 [GRCh38]
Chr8:145550093 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1311+5G>A single nucleotide variant not provided [RCV002604593] Chr8:144316848 [GRCh38]
Chr8:145540511 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.155A>G (p.Asn52Ser) single nucleotide variant not provided [RCV002588484] Chr8:144326482 [GRCh38]
Chr8:145550145 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1045G>A (p.Val349Met) single nucleotide variant not provided [RCV002613009] Chr8:144317382 [GRCh38]
Chr8:145541045 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.752-13dup duplication not provided [RCV003052401] Chr8:144318029..144318030 [GRCh38]
Chr8:145541692..145541693 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.629C>T (p.Ser210Phe) single nucleotide variant not provided [RCV002606569] Chr8:144318308 [GRCh38]
Chr8:145541971 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1383C>T (p.Leu461=) single nucleotide variant not provided [RCV002612155] Chr8:144316638 [GRCh38]
Chr8:145540301 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1095-21_1095-20del deletion not provided [RCV002612754] Chr8:144317272..144317273 [GRCh38]
Chr8:145540935..145540936 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1246G>A (p.Glu416Lys) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV003228207] Chr8:144317024 [GRCh38]
Chr8:145540687 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1161-19C>T single nucleotide variant not provided [RCV003686186] Chr8:144317128 [GRCh38]
Chr8:145540791 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1094+9C>T single nucleotide variant not provided [RCV003873971] Chr8:144317324 [GRCh38]
Chr8:145540987 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.751+8C>T single nucleotide variant not provided [RCV003875333] Chr8:144318087 [GRCh38]
Chr8:145541750 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.867C>T (p.Thr289=) single nucleotide variant not provided [RCV003543551] Chr8:144317811 [GRCh38]
Chr8:145541474 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-1G>C single nucleotide variant not provided [RCV003570844] Chr8:144317823 [GRCh38]
Chr8:145541486 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.574+17C>G single nucleotide variant not provided [RCV003543559] Chr8:144318444 [GRCh38]
Chr8:145542107 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.951A>C (p.Ser317=) single nucleotide variant not provided [RCV003569093] Chr8:144317574 [GRCh38]
Chr8:145541237 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3 copy number gain not provided [RCV003484758] Chr8:145080420..146258478 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.982-18C>T single nucleotide variant not provided [RCV003666203] Chr8:144317463 [GRCh38]
Chr8:145541126 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1094+2T>C single nucleotide variant DGAT1-related condition [RCV003402939] Chr8:144317331 [GRCh38]
Chr8:145540994 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.768C>G (p.Leu256=) single nucleotide variant not provided [RCV003693197] Chr8:144318001 [GRCh38]
Chr8:145541664 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.574+1G>A single nucleotide variant not provided [RCV003740208] Chr8:144318460 [GRCh38]
Chr8:145542123 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.714G>A (p.Pro238=) single nucleotide variant not provided [RCV003826969] Chr8:144318132 [GRCh38]
Chr8:145541795 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.355C>T (p.Gln119Ter) single nucleotide variant not provided [RCV003694294] Chr8:144318895 [GRCh38]
Chr8:145542558 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.1249-13C>T single nucleotide variant not provided [RCV003831386] Chr8:144316928 [GRCh38]
Chr8:145540591 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-10T>C single nucleotide variant not provided [RCV003827116] Chr8:144317832 [GRCh38]
Chr8:145541495 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.751+2T>G single nucleotide variant not provided [RCV003692412] Chr8:144318093 [GRCh38]
Chr8:145541756 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.129G>C (p.Ala43=) single nucleotide variant not provided [RCV003661879] Chr8:144326508 [GRCh38]
Chr8:145550171 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.45G>A (p.Arg15=) single nucleotide variant not provided [RCV003881613] Chr8:144326592 [GRCh38]
Chr8:145550255 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.288+20G>A single nucleotide variant not provided [RCV003831393] Chr8:144321301 [GRCh38]
Chr8:145544964 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1311+11C>T single nucleotide variant not provided [RCV003828705] Chr8:144316842 [GRCh38]
Chr8:145540505 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.291C>A (p.Ile97=) single nucleotide variant not provided [RCV003576463] Chr8:144319066 [GRCh38]
Chr8:145542729 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.546G>T (p.Val182=) single nucleotide variant not provided [RCV003579455] Chr8:144318489 [GRCh38]
Chr8:145542152 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1267C>T (p.Leu423=) single nucleotide variant not provided [RCV003877367] Chr8:144316897 [GRCh38]
Chr8:145540560 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1257G>C (p.Val419=) single nucleotide variant not provided [RCV003573419] Chr8:144316907 [GRCh38]
Chr8:145540570 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982-16_982-14del deletion not provided [RCV003712964] Chr8:144317459..144317461 [GRCh38]
Chr8:145541122..145541124 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-12T>C single nucleotide variant not provided [RCV003716614] Chr8:144318029 [GRCh38]
Chr8:145541692 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1311+13_1311+48del deletion not provided [RCV003686827] Chr8:144316805..144316840 [GRCh38]
Chr8:145540468..145540503 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-14T>C single nucleotide variant not provided [RCV003545507] Chr8:144318183 [GRCh38]
Chr8:145541846 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.14_138del (p.Gly5fs) deletion not provided [RCV003690918] Chr8:144326499..144326623 [GRCh38]
Chr8:145550162..145550286 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.234T>C (p.Ser78=) single nucleotide variant not provided [RCV003547657] Chr8:144321375 [GRCh38]
Chr8:145545038 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.36A>G (p.Thr12=) single nucleotide variant not provided [RCV003690975] Chr8:144326601 [GRCh38]
Chr8:145550264 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.469-6C>A single nucleotide variant not provided [RCV003693198] Chr8:144318572 [GRCh38]
Chr8:145542235 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.416-10C>G single nucleotide variant not provided [RCV003829412] Chr8:144318761 [GRCh38]
Chr8:145542424 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1386C>T (p.Ile462=) single nucleotide variant not provided [RCV003715853] Chr8:144316635 [GRCh38]
Chr8:145540298 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.972G>A (p.Leu324=) single nucleotide variant not provided [RCV003882001] Chr8:144317553 [GRCh38]
Chr8:145541216 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982-9C>A single nucleotide variant not provided [RCV003576784] Chr8:144317454 [GRCh38]
Chr8:145541117 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.751+14T>G single nucleotide variant not provided [RCV003714518] Chr8:144318081 [GRCh38]
Chr8:145541744 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.858G>A (p.Leu286=) single nucleotide variant not provided [RCV003574483] Chr8:144317820 [GRCh38]
Chr8:145541483 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.105T>A (p.Ala35=) single nucleotide variant not provided [RCV003692674] Chr8:144326532 [GRCh38]
Chr8:145550195 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1249-10C>T single nucleotide variant not provided [RCV003693340] Chr8:144316925 [GRCh38]
Chr8:145540588 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.330-26_330-18del deletion not provided [RCV003577349] Chr8:144318938..144318946 [GRCh38]
Chr8:145542601..145542609 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-20dup duplication not provided [RCV003688493] Chr8:144318036..144318037 [GRCh38]
Chr8:145541699..145541700 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.289-9C>T single nucleotide variant not provided [RCV003577363] Chr8:144319077 [GRCh38]
Chr8:145542740 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-18C>T single nucleotide variant not provided [RCV003687808] Chr8:144318035 [GRCh38]
Chr8:145541698 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1005C>G (p.Leu335=) single nucleotide variant not provided [RCV003574110] Chr8:144317422 [GRCh38]
Chr8:145541085 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.481G>C (p.Glu161Gln) single nucleotide variant not provided [RCV003877455] Chr8:144318554 [GRCh38]
Chr8:145542217 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.677-17C>T single nucleotide variant not provided [RCV003714870] Chr8:144318186 [GRCh38]
Chr8:145541849 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.63C>T (p.Gly21=) single nucleotide variant not provided [RCV003831367] Chr8:144326574 [GRCh38]
Chr8:145550237 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.612C>T (p.Leu204=) single nucleotide variant not provided [RCV003572405] Chr8:144318325 [GRCh38]
Chr8:145541988 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-2A>G single nucleotide variant not provided [RCV003688404] Chr8:144318019 [GRCh38]
Chr8:145541682 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.415+9G>C single nucleotide variant not provided [RCV003878616] Chr8:144318826 [GRCh38]
Chr8:145542489 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1249-11T>C single nucleotide variant not provided [RCV003689825] Chr8:144316926 [GRCh38]
Chr8:145540589 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.201-15G>A single nucleotide variant not provided [RCV003694393] Chr8:144321423 [GRCh38]
Chr8:145545086 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.469-6C>T single nucleotide variant not provided [RCV003694005] Chr8:144318572 [GRCh38]
Chr8:145542235 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.357G>A (p.Gln119=) single nucleotide variant not provided [RCV003695272] Chr8:144318893 [GRCh38]
Chr8:145542556 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1311+9C>A single nucleotide variant not provided [RCV003686828] Chr8:144316844 [GRCh38]
Chr8:145540507 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.778_788del (p.Thr260fs) deletion not provided [RCV003574324] Chr8:144317981..144317991 [GRCh38]
Chr8:145541644..145541654 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.1212G>A (p.Arg404=) single nucleotide variant not provided [RCV003659971] Chr8:144317058 [GRCh38]
Chr8:145540721 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.855+15_855+21del microsatellite not provided [RCV003661287] Chr8:144317893..144317899 [GRCh38]
Chr8:145541556..145541562 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1251C>T (p.Tyr417=) single nucleotide variant not provided [RCV003577378] Chr8:144316913 [GRCh38]
Chr8:145540576 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.246C>T (p.Phe82=) single nucleotide variant not provided [RCV003576585] Chr8:144321363 [GRCh38]
Chr8:145545026 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1014C>T (p.Phe338=) single nucleotide variant not provided [RCV003579042] Chr8:144317413 [GRCh38]
Chr8:145541076 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.972G>C (p.Leu324=) single nucleotide variant not provided [RCV003689162] Chr8:144317553 [GRCh38]
Chr8:145541216 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.453G>A (p.Glu151=) single nucleotide variant not provided [RCV003686982] Chr8:144318714 [GRCh38]
Chr8:145542377 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.981+15G>A single nucleotide variant not provided [RCV003660174] Chr8:144317529 [GRCh38]
Chr8:145541192 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1095-12C>T single nucleotide variant not provided [RCV003661317] Chr8:144317264 [GRCh38]
Chr8:145540927 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.469-11C>T single nucleotide variant not provided [RCV003547311] Chr8:144318577 [GRCh38]
Chr8:145542240 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.330-5C>T single nucleotide variant not provided [RCV003688205] Chr8:144318925 [GRCh38]
Chr8:145542588 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.968T>G (p.Leu323Arg) single nucleotide variant not provided [RCV003689164] Chr8:144317557 [GRCh38]
Chr8:145541220 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.982-14C>T single nucleotide variant not provided [RCV003880183] Chr8:144317459 [GRCh38]
Chr8:145541122 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.801del (p.Arg269fs) deletion not provided [RCV003661476] Chr8:144317968 [GRCh38]
Chr8:145541631 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.739del (p.Asn246_Leu247insTer) deletion not provided [RCV003693481] Chr8:144318107 [GRCh38]
Chr8:145541770 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.1249-9C>T single nucleotide variant not provided [RCV003572684] Chr8:144316924 [GRCh38]
Chr8:145540587 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.416-18T>C single nucleotide variant not provided [RCV003545035] Chr8:144318769 [GRCh38]
Chr8:145542432 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.676+12_676+21dup duplication not provided [RCV003693268] Chr8:144318239..144318240 [GRCh38]
Chr8:145541902..145541903 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1161-12C>A single nucleotide variant not provided [RCV003663091] Chr8:144317121 [GRCh38]
Chr8:145540784 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.751+15G>A single nucleotide variant not provided [RCV003571936] Chr8:144318080 [GRCh38]
Chr8:145541743 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.294G>A (p.Leu98=) single nucleotide variant not provided [RCV003690499] Chr8:144319063 [GRCh38]
Chr8:145542726 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1032C>A (p.Ser344=) single nucleotide variant not provided [RCV003714100] Chr8:144317395 [GRCh38]
Chr8:145541058 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.267G>A (p.Leu89=) single nucleotide variant not provided [RCV003713010] Chr8:144321342 [GRCh38]
Chr8:145545005 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.70_122del (p.Pro24fs) deletion not provided [RCV003715786] Chr8:144326515..144326567 [GRCh38]
Chr8:145550178..145550230 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.982-12C>T single nucleotide variant not provided [RCV003712959] Chr8:144317457 [GRCh38]
Chr8:145541120 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1161-17T>C single nucleotide variant not provided [RCV003851225] Chr8:144317126 [GRCh38]
Chr8:145540789 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.415+14dup duplication not provided [RCV003663776] Chr8:144318820..144318821 [GRCh38]
Chr8:145542483..145542484 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-14del deletion not provided [RCV003699241] Chr8:144318031 [GRCh38]
Chr8:145541694 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.428_429del (p.Phe143fs) deletion not provided [RCV003659373] Chr8:144318738..144318739 [GRCh38]
Chr8:145542401..145542402 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.288+11_288+23del deletion not provided [RCV003851881] Chr8:144321298..144321310 [GRCh38]
Chr8:145544961..145544973 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.543T>G (p.Ala181=) single nucleotide variant not provided [RCV003663981] Chr8:144318492 [GRCh38]
Chr8:145542155 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200+10C>G single nucleotide variant not provided [RCV003674267] Chr8:144326427 [GRCh38]
Chr8:145550090 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.574+9C>T single nucleotide variant not provided [RCV003813844] Chr8:144318452 [GRCh38]
Chr8:145542115 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.339C>T (p.Ile113=) single nucleotide variant not provided [RCV003850861] Chr8:144318911 [GRCh38]
Chr8:145542574 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.315G>A (p.Leu105=) single nucleotide variant not provided [RCV003673646] Chr8:144319042 [GRCh38]
Chr8:145542705 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.771C>T (p.Phe257=) single nucleotide variant not provided [RCV003817220] Chr8:144317998 [GRCh38]
Chr8:145541661 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-19C>T single nucleotide variant not provided [RCV003837717] Chr8:144318036 [GRCh38]
Chr8:145541699 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1161-9C>T single nucleotide variant not provided [RCV003658907] Chr8:144317118 [GRCh38]
Chr8:145540781 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1249-16C>G single nucleotide variant not provided [RCV003659383] Chr8:144316931 [GRCh38]
Chr8:145540594 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1312-15C>T single nucleotide variant not provided [RCV003562069] Chr8:144316724 [GRCh38]
Chr8:145540387 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1311+16G>A single nucleotide variant not provided [RCV003670381] Chr8:144316837 [GRCh38]
Chr8:145540500 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-4G>C single nucleotide variant not provided [RCV003669688] Chr8:144318173 [GRCh38]
Chr8:145541836 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.69_82dup (p.Glu28fs) duplication not provided [RCV003674226] Chr8:144326554..144326555 [GRCh38]
Chr8:145550217..145550218 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.752-18C>A single nucleotide variant not provided [RCV003550045] Chr8:144318035 [GRCh38]
Chr8:145541698 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.69_82del (p.Pro24fs) deletion not provided [RCV003811018] Chr8:144326555..144326568 [GRCh38]
Chr8:145550218..145550231 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.78G>A (p.Ala26=) single nucleotide variant not provided [RCV003700027] Chr8:144326559 [GRCh38]
Chr8:145550222 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.804C>T (p.Pro268=) single nucleotide variant not provided [RCV003548305] Chr8:144317965 [GRCh38]
Chr8:145541628 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.330-13C>T single nucleotide variant not provided [RCV003670438] Chr8:144318933 [GRCh38]
Chr8:145542596 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.711C>T (p.Ala237=) single nucleotide variant not provided [RCV003669445] Chr8:144318135 [GRCh38]
Chr8:145541798 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.558T>G (p.Val186=) single nucleotide variant not provided [RCV003703474] Chr8:144318477 [GRCh38]
Chr8:145542140 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.289-7C>T single nucleotide variant not provided [RCV003561749] Chr8:144319075 [GRCh38]
Chr8:145542738 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1173G>A (p.Lys391=) single nucleotide variant not provided [RCV003703605] Chr8:144317097 [GRCh38]
Chr8:145540760 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.87G>A (p.Glu29=) single nucleotide variant not provided [RCV003673953] Chr8:144326550 [GRCh38]
Chr8:145550213 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.732G>T (p.Pro244=) single nucleotide variant not provided [RCV003670387] Chr8:144318114 [GRCh38]
Chr8:145541777 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1016A>T (p.Tyr339Phe) single nucleotide variant not provided [RCV003815149] Chr8:144317411 [GRCh38]
Chr8:145541074 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.856-5C>G single nucleotide variant not provided [RCV003851376] Chr8:144317827 [GRCh38]
Chr8:145541490 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1249-17T>C single nucleotide variant not provided [RCV003723727] Chr8:144316932 [GRCh38]
Chr8:145540595 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1023C>G (p.Leu341=) single nucleotide variant not provided [RCV003671412] Chr8:144317404 [GRCh38]
Chr8:145541067 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1311+20C>T single nucleotide variant not provided [RCV003664609] Chr8:144316833 [GRCh38]
Chr8:145540496 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.981+8C>T single nucleotide variant DGAT1-related condition [RCV003981139]|not provided [RCV003817346] Chr8:144317536 [GRCh38]
Chr8:145541199 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1044C>G (p.Ala348=) single nucleotide variant not provided [RCV003726487] Chr8:144317383 [GRCh38]
Chr8:145541046 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.288+12A>G single nucleotide variant not provided [RCV003702575] Chr8:144321309 [GRCh38]
Chr8:145544972 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-15C>T single nucleotide variant not provided [RCV003673168] Chr8:144318032 [GRCh38]
Chr8:145541695 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.729C>T (p.Tyr243=) single nucleotide variant not provided [RCV003856231] Chr8:144318117 [GRCh38]
Chr8:145541780 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200+18C>A single nucleotide variant not provided [RCV003702668] Chr8:144326419 [GRCh38]
Chr8:145550082 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.574+13C>T single nucleotide variant not provided [RCV003666717] Chr8:144318448 [GRCh38]
Chr8:145542111 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1035C>T (p.Cys345=) single nucleotide variant not provided [RCV003666893] Chr8:144317392 [GRCh38]
Chr8:145541055 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.42G>A (p.Ser14=) single nucleotide variant not provided [RCV003838131] Chr8:144326595 [GRCh38]
Chr8:145550258 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.289-7C>G single nucleotide variant not provided [RCV003671027] Chr8:144319075 [GRCh38]
Chr8:145542738 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1419C>T (p.Val473=) single nucleotide variant not provided [RCV003837067] Chr8:144316602 [GRCh38]
Chr8:145540265 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.369G>A (p.Leu123=) single nucleotide variant not provided [RCV003856002] Chr8:144318881 [GRCh38]
Chr8:145542544 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1075del (p.Glu359fs) deletion not provided [RCV003723587] Chr8:144317352 [GRCh38]
Chr8:145541015 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.423T>C (p.Asn141=) single nucleotide variant not provided [RCV003816695] Chr8:144318744 [GRCh38]
Chr8:145542407 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-19C>T single nucleotide variant not provided [RCV003855361] Chr8:144317841 [GRCh38]
Chr8:145541504 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1311+10C>T single nucleotide variant not provided [RCV003666755] Chr8:144316843 [GRCh38]
Chr8:145540506 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1160+9G>A single nucleotide variant not provided [RCV003701403] Chr8:144317178 [GRCh38]
Chr8:145540841 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.895-11C>G single nucleotide variant not provided [RCV003700144] Chr8:144317723 [GRCh38]
Chr8:145541386 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1248+17G>A single nucleotide variant not provided [RCV003671003] Chr8:144317005 [GRCh38]
Chr8:145540668 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1101C>T (p.Ser367=) single nucleotide variant not provided [RCV003814381] Chr8:144317246 [GRCh38]
Chr8:145540909 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.736A>G (p.Asn246Asp) single nucleotide variant not provided [RCV003723576] Chr8:144318110 [GRCh38]
Chr8:145541773 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1190del (p.Gly397fs) deletion not provided [RCV003723575] Chr8:144317080 [GRCh38]
Chr8:145540743 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.534C>T (p.Phe178=) single nucleotide variant not provided [RCV003812081] Chr8:144318501 [GRCh38]
Chr8:145542164 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-9C>T single nucleotide variant not provided [RCV003667100] Chr8:144317831 [GRCh38]
Chr8:145541494 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1038G>A (p.Leu346=) single nucleotide variant not provided [RCV003672289] Chr8:144317389 [GRCh38]
Chr8:145541052 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.201-6T>C single nucleotide variant not provided [RCV003701564] Chr8:144321414 [GRCh38]
Chr8:145545077 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1161-5T>C single nucleotide variant not provided [RCV003836581] Chr8:144317114 [GRCh38]
Chr8:145540777 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982-18_982-11del deletion not provided [RCV003580488] Chr8:144317456..144317463 [GRCh38]
Chr8:145541119..145541126 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.948C>T (p.Tyr316=) single nucleotide variant not provided [RCV003836715] Chr8:144317577 [GRCh38]
Chr8:145541240 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.289-22_289-20del deletion not provided [RCV003672407] Chr8:144319088..144319090 [GRCh38]
Chr8:145542751..145542753 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.751+9C>T single nucleotide variant not provided [RCV003559047] Chr8:144318086 [GRCh38]
Chr8:145541749 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.741G>A (p.Leu247=) single nucleotide variant not provided [RCV003580214] Chr8:144318105 [GRCh38]
Chr8:145541768 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.684A>G (p.Ala228=) single nucleotide variant not provided [RCV003580266] Chr8:144318162 [GRCh38]
Chr8:145541825 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.201-5G>A single nucleotide variant not provided [RCV003550174] Chr8:144321413 [GRCh38]
Chr8:145545076 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1160+19T>C single nucleotide variant not provided [RCV003851701] Chr8:144317168 [GRCh38]
Chr8:145540831 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982-17C>A single nucleotide variant not provided [RCV003818969] Chr8:144317462 [GRCh38]
Chr8:145541125 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.330-12C>G single nucleotide variant not provided [RCV003563372] Chr8:144318932 [GRCh38]
Chr8:145542595 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.31A>C (p.Arg11=) single nucleotide variant not provided [RCV003859646] Chr8:144326606 [GRCh38]
Chr8:145550269 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1312-12C>T single nucleotide variant not provided [RCV003861083] Chr8:144316721 [GRCh38]
Chr8:145540384 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982-5G>A single nucleotide variant not provided [RCV003565775] Chr8:144317450 [GRCh38]
Chr8:145541113 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1248+15G>C single nucleotide variant not provided [RCV003552184] Chr8:144317007 [GRCh38]
Chr8:145540670 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.676+9C>T single nucleotide variant not provided [RCV003551831] Chr8:144318252 [GRCh38]
Chr8:145541915 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1026C>T (p.Phe342=) single nucleotide variant not provided [RCV003842155] Chr8:144317401 [GRCh38]
Chr8:145541064 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.302C>G (p.Ala101Gly) single nucleotide variant not provided [RCV003681059] Chr8:144319055 [GRCh38]
Chr8:145542718 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.981+20G>A single nucleotide variant not provided [RCV003842170] Chr8:144317524 [GRCh38]
Chr8:145541187 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.216G>A (p.Gln72=) single nucleotide variant DGAT1-related condition [RCV003893328]|not provided [RCV003729332] Chr8:144321393 [GRCh38]
Chr8:145545056 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982-5G>C single nucleotide variant not provided [RCV003860889] Chr8:144317450 [GRCh38]
Chr8:145541113 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.774C>G (p.Ala258=) single nucleotide variant not provided [RCV003710220] Chr8:144317995 [GRCh38]
Chr8:145541658 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1160+14G>A single nucleotide variant not provided [RCV003683478] Chr8:144317173 [GRCh38]
Chr8:145540836 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.676+9del deletion not provided [RCV003705429] Chr8:144318252 [GRCh38]
Chr8:145541915 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1095-20del deletion not provided [RCV003709383] Chr8:144317272 [GRCh38]
Chr8:145540935 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.111C>T (p.Gly37=) single nucleotide variant not provided [RCV003568745] Chr8:144326526 [GRCh38]
Chr8:145550189 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.855+13G>C single nucleotide variant not provided [RCV003710327] Chr8:144317901 [GRCh38]
Chr8:145541564 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.416-20C>T single nucleotide variant not provided [RCV003681948] Chr8:144318771 [GRCh38]
Chr8:145542434 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.201-7C>T single nucleotide variant not provided [RCV003550848] Chr8:144321415 [GRCh38]
Chr8:145545078 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.936+13G>A single nucleotide variant not provided [RCV003708889] Chr8:144317658 [GRCh38]
Chr8:145541321 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.340C>T (p.Leu114=) single nucleotide variant not provided [RCV003553500] Chr8:144318910 [GRCh38]
Chr8:145542573 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.895-9C>T single nucleotide variant not provided [RCV003705400] Chr8:144317721 [GRCh38]
Chr8:145541384 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-14C>T single nucleotide variant not provided [RCV003823378] Chr8:144318031 [GRCh38]
Chr8:145541694 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.201-17G>A single nucleotide variant not provided [RCV003707170] Chr8:144321425 [GRCh38]
Chr8:145545088 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.406C>T (p.Leu136=) single nucleotide variant not provided [RCV003674709] Chr8:144318844 [GRCh38]
Chr8:145542507 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.788dup (p.Tyr263Ter) duplication not provided [RCV003681373] Chr8:144317980..144317981 [GRCh38]
Chr8:145541643..145541644 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.856-4C>G single nucleotide variant not provided [RCV003846334] Chr8:144317826 [GRCh38]
Chr8:145541489 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.134del (p.Asp45fs) deletion not provided [RCV003683097] Chr8:144326503 [GRCh38]
Chr8:145550166 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.894+12del deletion not provided [RCV003567379] Chr8:144317772 [GRCh38]
Chr8:145541435 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.936+9C>T single nucleotide variant not provided [RCV003674760] Chr8:144317662 [GRCh38]
Chr8:145541325 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.468+13C>T single nucleotide variant not provided [RCV003681334] Chr8:144318686 [GRCh38]
Chr8:145542349 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-10G>A single nucleotide variant not provided [RCV003704692] Chr8:144318179 [GRCh38]
Chr8:145541842 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.939C>T (p.Asp313=) single nucleotide variant not provided [RCV003678926] Chr8:144317586 [GRCh38]
Chr8:145541249 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.702T>C (p.Ser234=) single nucleotide variant not provided [RCV003726954] Chr8:144318144 [GRCh38]
Chr8:145541807 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.585G>A (p.Leu195=) single nucleotide variant not provided [RCV003674591] Chr8:144318352 [GRCh38]
Chr8:145542015 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.553C>T (p.Leu185=) single nucleotide variant not provided [RCV003859356] Chr8:144318482 [GRCh38]
Chr8:145542145 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.957C>T (p.Ile319=) single nucleotide variant not provided [RCV003709864] Chr8:144317568 [GRCh38]
Chr8:145541231 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.906C>T (p.Pro302=) single nucleotide variant not provided [RCV003843214] Chr8:144317701 [GRCh38]
Chr8:145541364 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-14C>G single nucleotide variant not provided [RCV003848113] Chr8:144318031 [GRCh38]
Chr8:145541694 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1227G>A (p.Leu409=) single nucleotide variant not provided [RCV003865607] Chr8:144317043 [GRCh38]
Chr8:145540706 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1160+11TG[4] microsatellite not provided [RCV003704698] Chr8:144317163..144317168 [GRCh38]
Chr8:145540826..145540831 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982-5dup duplication not provided [RCV003567342] Chr8:144317449..144317450 [GRCh38]
Chr8:145541112..145541113 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.676+15G>A single nucleotide variant not provided [RCV003707643] Chr8:144318246 [GRCh38]
Chr8:145541909 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.834G>A (p.Leu278=) single nucleotide variant not provided [RCV003867294] Chr8:144317935 [GRCh38]
Chr8:145541598 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1249-14C>G single nucleotide variant not provided [RCV003872418] Chr8:144316929 [GRCh38]
Chr8:145540592 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1094+18G>A single nucleotide variant not provided [RCV003841698] Chr8:144317315 [GRCh38]
Chr8:145540978 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.468+7A>C single nucleotide variant not provided [RCV003685982] Chr8:144318692 [GRCh38]
Chr8:145542355 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.329+18G>A single nucleotide variant not provided [RCV003682394] Chr8:144319010 [GRCh38]
Chr8:145542673 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.798C>T (p.Asn266=) single nucleotide variant not provided [RCV003674670] Chr8:144317971 [GRCh38]
Chr8:145541634 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-5_677-3dup duplication not provided [RCV003553809] Chr8:144318171..144318172 [GRCh38]
Chr8:145541834..145541835 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.288+8G>A single nucleotide variant not provided [RCV003733159] Chr8:144321313 [GRCh38]
Chr8:145544976 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.981+15G>C single nucleotide variant not provided [RCV003709859] Chr8:144317529 [GRCh38]
Chr8:145541192 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.288+20G>T single nucleotide variant not provided [RCV003551936] Chr8:144321301 [GRCh38]
Chr8:145544964 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.330-7C>A single nucleotide variant not provided [RCV003853439] Chr8:144318927 [GRCh38]
Chr8:145542590 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.189C>T (p.His63=) single nucleotide variant not provided [RCV003568707] Chr8:144326448 [GRCh38]
Chr8:145550111 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.150C>T (p.Ala50=) single nucleotide variant not provided [RCV003733620] Chr8:144326487 [GRCh38]
Chr8:145550150 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_012079.6(DGAT1):c.1263C>T (p.Val421=) single nucleotide variant not provided [RCV003867507] Chr8:144316901 [GRCh38]
Chr8:145540564 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.855+11G>A single nucleotide variant not provided [RCV003684451] Chr8:144317903 [GRCh38]
Chr8:145541566 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1161-18A>G single nucleotide variant not provided [RCV003710906] Chr8:144317127 [GRCh38]
Chr8:145540790 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.752-4C>A single nucleotide variant not provided [RCV003681708] Chr8:144318021 [GRCh38]
Chr8:145541684 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1152G>A (p.Trp384Ter) single nucleotide variant not provided [RCV003857636] Chr8:144317195 [GRCh38]
Chr8:145540858 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.200+20C>G single nucleotide variant not provided [RCV003857643] Chr8:144326417 [GRCh38]
Chr8:145550080 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.615C>T (p.Phe205=) single nucleotide variant not provided [RCV003567612] Chr8:144318322 [GRCh38]
Chr8:145541985 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.921dup (p.Met308fs) duplication not provided [RCV003567619] Chr8:144317685..144317686 [GRCh38]
Chr8:145541348..145541349 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.514C>T (p.Leu172=) single nucleotide variant not provided [RCV003729216] Chr8:144318521 [GRCh38]
Chr8:145542184 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1239C>T (p.Phe413=) single nucleotide variant not provided [RCV003868280] Chr8:144317031 [GRCh38]
Chr8:145540694 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1311+16G>T single nucleotide variant not provided [RCV003709329] Chr8:144316837 [GRCh38]
Chr8:145540500 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.171C>T (p.Ala57=) single nucleotide variant not provided [RCV003682091] Chr8:144326466 [GRCh38]
Chr8:145550129 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.474C>A (p.Ala158=) single nucleotide variant not provided [RCV003718796] Chr8:144318561 [GRCh38]
Chr8:145542224 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.693G>A (p.Lys231=) single nucleotide variant not provided [RCV003684805] Chr8:144318153 [GRCh38]
Chr8:145541816 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.982-1G>A single nucleotide variant not provided [RCV003684897] Chr8:144317446 [GRCh38]
Chr8:145541109 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.895-8C>G single nucleotide variant not provided [RCV003685965] Chr8:144317720 [GRCh38]
Chr8:145541383 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.696C>T (p.Ala232=) single nucleotide variant not provided [RCV003686072] Chr8:144318150 [GRCh38]
Chr8:145541813 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.416-6C>T single nucleotide variant not provided [RCV003870934] Chr8:144318757 [GRCh38]
Chr8:145542420 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200+2T>A single nucleotide variant not provided [RCV003562231] Chr8:144326435 [GRCh38]
Chr8:145550098 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.1161-11C>T single nucleotide variant not provided [RCV003674459] Chr8:144317120 [GRCh38]
Chr8:145540783 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.574+8C>A single nucleotide variant not provided [RCV003734868] Chr8:144318453 [GRCh38]
Chr8:145542116 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.39G>C (p.Gly13=) single nucleotide variant not provided [RCV003722681] Chr8:144326598 [GRCh38]
Chr8:145550261 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.330-10C>T single nucleotide variant not provided [RCV003733021] Chr8:144318930 [GRCh38]
Chr8:145542593 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.369G>T (p.Leu123=) single nucleotide variant not provided [RCV003721558] Chr8:144318881 [GRCh38]
Chr8:145542544 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.574+2T>G single nucleotide variant not provided [RCV003568219] Chr8:144318459 [GRCh38]
Chr8:145542122 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.856-17_856-14del microsatellite not provided [RCV003868506] Chr8:144317836..144317839 [GRCh38]
Chr8:145541499..145541502 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.330-14C>T single nucleotide variant not provided [RCV003721493] Chr8:144318934 [GRCh38]
Chr8:145542597 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.717C>T (p.His239=) single nucleotide variant not provided [RCV003542800] Chr8:144318129 [GRCh38]
Chr8:145541792 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.201-1G>C single nucleotide variant not provided [RCV003722938] Chr8:144321409 [GRCh38]
Chr8:145545072 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.895-19G>A single nucleotide variant not provided [RCV003847355] Chr8:144317731 [GRCh38]
Chr8:145541394 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1161-1G>A single nucleotide variant not provided [RCV003684220] Chr8:144317110 [GRCh38]
Chr8:145540773 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.752-18C>G single nucleotide variant not provided [RCV003721326] Chr8:144318035 [GRCh38]
Chr8:145541698 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.575-15C>T single nucleotide variant not provided [RCV003550608] Chr8:144318377 [GRCh38]
Chr8:145542040 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1095-5C>T single nucleotide variant not provided [RCV003731615] Chr8:144317257 [GRCh38]
Chr8:145540920 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1161-15C>T single nucleotide variant not provided [RCV003868678] Chr8:144317124 [GRCh38]
Chr8:145540787 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.762C>T (p.Tyr254=) single nucleotide variant not provided [RCV003722127] Chr8:144318007 [GRCh38]
Chr8:145541670 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.937-7T>C single nucleotide variant not provided [RCV003567133] Chr8:144317595 [GRCh38]
Chr8:145541258 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1314C>T (p.Ile438=) single nucleotide variant not provided [RCV003721987] Chr8:144316707 [GRCh38]
Chr8:145540370 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1248+8C>T single nucleotide variant not provided [RCV003823680] Chr8:144317014 [GRCh38]
Chr8:145540677 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200+13C>A single nucleotide variant not provided [RCV003864709] Chr8:144326424 [GRCh38]
Chr8:145550087 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-10del deletion not provided [RCV003683597] Chr8:144318179 [GRCh38]
Chr8:145541842 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.937-4G>A single nucleotide variant not provided [RCV003564415] Chr8:144317592 [GRCh38]
Chr8:145541255 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1095-4C>G single nucleotide variant not provided [RCV003568759] Chr8:144317256 [GRCh38]
Chr8:145540919 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1380G>T (p.Ser460=) single nucleotide variant not provided [RCV003675472] Chr8:144316641 [GRCh38]
Chr8:145540304 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1095-10T>C single nucleotide variant not provided [RCV003853087] Chr8:144317262 [GRCh38]
Chr8:145540925 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.855+15T>C single nucleotide variant not provided [RCV003542118] Chr8:144317899 [GRCh38]
Chr8:145541562 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1312-14C>T single nucleotide variant not provided [RCV003682190] Chr8:144316723 [GRCh38]
Chr8:145540386 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.289-11A>G single nucleotide variant not provided [RCV003865713] Chr8:144319079 [GRCh38]
Chr8:145542742 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.303C>T (p.Ala101=) single nucleotide variant not provided [RCV003682712] Chr8:144319054 [GRCh38]
Chr8:145542717 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.200+2T>C single nucleotide variant not provided [RCV003681200] Chr8:144326435 [GRCh38]
Chr8:145550098 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.574+10dup duplication not provided [RCV003841748] Chr8:144318450..144318451 [GRCh38]
Chr8:145542113..145542114 [GRCh37]
Chr8:8q24.3		 benign
NM_012079.6(DGAT1):c.752-15C>G single nucleotide variant not provided [RCV003562147] Chr8:144318032 [GRCh38]
Chr8:145541695 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.356_376delinsTGGTGGACCCCATCCAGGTGGTTTCTGGGACCCCATCC (p.Gln119fs) indel not provided [RCV003554510] Chr8:144318874..144318894 [GRCh38]
Chr8:145542537..145542557 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_012079.6(DGAT1):c.1161-19del deletion not provided [RCV003859382] Chr8:144317128 [GRCh38]
Chr8:145540791 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.676+9C>A single nucleotide variant not provided [RCV003675845] Chr8:144318252 [GRCh38]
Chr8:145541915 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.329+17G>T single nucleotide variant not provided [RCV003859421] Chr8:144319011 [GRCh38]
Chr8:145542674 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.328_329+2del deletion not provided [RCV003703947] Chr8:144319026..144319029 [GRCh38]
Chr8:145542689..145542692 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_012079.6(DGAT1):c.1311+11C>A single nucleotide variant not provided [RCV003670803] Chr8:144316842 [GRCh38]
Chr8:145540505 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.489G>A (p.Ala163=) single nucleotide variant not provided [RCV003822704] Chr8:144318546 [GRCh38]
Chr8:145542209 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.856-5C>A single nucleotide variant not provided [RCV003858276] Chr8:144317827 [GRCh38]
Chr8:145541490 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1074G>C (p.Arg358=) single nucleotide variant not provided [RCV003859815] Chr8:144317353 [GRCh38]
Chr8:145541016 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.469-18C>T single nucleotide variant not provided [RCV003566622] Chr8:144318584 [GRCh38]
Chr8:145542247 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.894+15G>T single nucleotide variant not provided [RCV003822191] Chr8:144317769 [GRCh38]
Chr8:145541432 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1336del (p.Arg446fs) deletion not provided [RCV003707661] Chr8:144316685 [GRCh38]
Chr8:145540348 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.1380G>A (p.Ser460=) single nucleotide variant not provided [RCV003864556] Chr8:144316641 [GRCh38]
Chr8:145540304 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.677-19C>T single nucleotide variant not provided [RCV003840911] Chr8:144318188 [GRCh38]
Chr8:145541851 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.372C>T (p.Phe124=) single nucleotide variant not provided [RCV003564060] Chr8:144318878 [GRCh38]
Chr8:145542541 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.528G>A (p.Leu176=) single nucleotide variant not provided [RCV003853989] Chr8:144318507 [GRCh38]
Chr8:145542170 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.102C>T (p.Ala34=) single nucleotide variant not provided [RCV003678553] Chr8:144326535 [GRCh38]
Chr8:145550198 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1167C>T (p.Phe389=) single nucleotide variant not provided [RCV003678582] Chr8:144317103 [GRCh38]
Chr8:145540766 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.396C>T (p.Pro132=) single nucleotide variant not provided [RCV003863368] Chr8:144318854 [GRCh38]
Chr8:145542517 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.937-16G>A single nucleotide variant not provided [RCV003677427] Chr8:144317604 [GRCh38]
Chr8:145541267 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.867C>G (p.Thr289=) single nucleotide variant not provided [RCV003708482] Chr8:144317811 [GRCh38]
Chr8:145541474 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1290G>A (p.Ala430=) single nucleotide variant not provided [RCV003553545] Chr8:144316874 [GRCh38]
Chr8:145540537 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.516G>A (p.Leu172=) single nucleotide variant not provided [RCV003847118] Chr8:144318519 [GRCh38]
Chr8:145542182 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.1249-15T>C single nucleotide variant not provided [RCV003841080] Chr8:144316930 [GRCh38]
Chr8:145540593 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.895-4G>A single nucleotide variant not provided [RCV003562832] Chr8:144317716 [GRCh38]
Chr8:145541379 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.894+13_894+14insCT insertion not provided [RCV003861586] Chr8:144317770..144317771 [GRCh38]
Chr8:145541433..145541434 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.306G>C (p.Arg102=) single nucleotide variant not provided [RCV003733456] Chr8:144319051 [GRCh38]
Chr8:145542714 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.895-12C>G single nucleotide variant not provided [RCV003541887] Chr8:144317724 [GRCh38]
Chr8:145541387 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.415+7T>G single nucleotide variant not provided [RCV003564161] Chr8:144318828 [GRCh38]
Chr8:145542491 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.749G>A (p.Arg250His) single nucleotide variant not provided [RCV003708349] Chr8:144318097 [GRCh38]
Chr8:145541760 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_012079.6(DGAT1):c.289-8C>T single nucleotide variant not provided [RCV003734411] Chr8:144319076 [GRCh38]
Chr8:145542739 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.612C>G (p.Leu204=) single nucleotide variant DGAT1-related condition [RCV003967337] Chr8:144318325 [GRCh38]
Chr8:145541988 [GRCh37]
Chr8:8q24.3		 likely benign
NM_012079.6(DGAT1):c.836T>C (p.Leu279Pro) single nucleotide variant Congenital diarrhea 7 with exudative enteropathy [RCV003988781] Chr8:144317933 [GRCh38]
Chr8:145541596 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19635812
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19635812

Predicted Target Of
Summary Value
Count of predictions:3402
Count of miRNA genes:847
Interacting mature miRNAs:1031
Transcripts:ENST00000332324, ENST00000524844, ENST00000524965, ENST00000525371, ENST00000526479, ENST00000527438, ENST00000527885, ENST00000528718, ENST00000531896
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.

Markers in Region
RH79683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,538,097 - 145,538,360UniSTSGRCh37
Build 368145,508,905 - 145,509,168RGDNCBI36
Celera8141,712,865 - 141,713,128RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,652,616 - 140,652,879UniSTS
GeneMap99-GB4 RH Map8563.95UniSTS
D8S1577E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,540,003 - 145,540,078UniSTSGRCh37
Build 368145,510,811 - 145,510,886RGDNCBI36
Celera8141,714,771 - 141,714,846RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,654,522 - 140,654,597UniSTS
DGAT1_8848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,539,755 - 145,540,344UniSTSGRCh37
Build 368145,510,563 - 145,511,152RGDNCBI36
Celera8141,714,523 - 141,715,112RGD
HuRef8140,654,274 - 140,654,863UniSTS
STS-M64673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,538,135 - 145,538,322UniSTSGRCh37
Build 368145,508,943 - 145,509,130RGDNCBI36
Celera8141,712,903 - 141,713,090RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,652,654 - 140,652,841UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2427 2891 1718 620 1847 462 4345 2132 3225 408 1442 1605 171 1204 2786 3
Low 10 96 5 4 102 3 11 62 486 10 7 4 1 2 1 2
Below cutoff 1 3 1 2 1 10 1 8 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB057815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC142402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF059202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI907285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK300256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY016503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000332324   ⟹   ENSP00000332258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,316,325 - 144,326,910 (-)Ensembl
RefSeq Acc Id: ENST00000524844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,317,075 - 144,318,321 (-)Ensembl
RefSeq Acc Id: ENST00000524965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,316,320 - 144,318,724 (-)Ensembl
RefSeq Acc Id: ENST00000525371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,318,094 - 144,326,667 (-)Ensembl
RefSeq Acc Id: ENST00000527885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,316,843 - 144,317,633 (-)Ensembl
RefSeq Acc Id: ENST00000528718   ⟹   ENSP00000482264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,314,584 - 144,326,852 (-)Ensembl
RefSeq Acc Id: ENST00000531896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,317,917 - 144,326,674 (-)Ensembl
RefSeq Acc Id: ENST00000620428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,314,590 - 144,315,138 (-)Ensembl
RefSeq Acc Id: NM_012079   ⟹   NP_036211
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,314,584 - 144,326,852 (-)NCBI
GRCh378145,538,246 - 145,550,582 (-)NCBI
Build 368145,510,762 - 145,521,375 (-)NCBI Archive
HuRef8140,652,765 - 140,665,081 (-)NCBI
CHM1_18145,576,522 - 145,588,858 (-)NCBI
T2T-CHM13v2.08145,483,219 - 145,495,487 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517356   ⟹   XP_011515658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,314,584 - 144,325,252 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422387   ⟹   XP_047278343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,314,584 - 144,325,381 (-)NCBI
RefSeq Acc Id: XM_047422388   ⟹   XP_047278344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,314,584 - 144,324,228 (-)NCBI
RefSeq Acc Id: XM_047422389   ⟹   XP_047278345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,314,584 - 144,324,228 (-)NCBI
RefSeq Acc Id: XM_054361435   ⟹   XP_054217410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,483,219 - 145,493,855 (-)NCBI
RefSeq Acc Id: XM_054361436   ⟹   XP_054217411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,483,219 - 145,494,016 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_036211   ⟸   NM_012079
- UniProtKB: D3DWL6 (UniProtKB/Swiss-Prot),   B2RWQ2 (UniProtKB/Swiss-Prot),   Q96BB8 (UniProtKB/Swiss-Prot),   O75907 (UniProtKB/Swiss-Prot),   Q9BRH5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515658   ⟸   XM_011517356
- Peptide Label: isoform X1
- UniProtKB: Q9BRH5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000332258   ⟸   ENST00000332324
RefSeq Acc Id: ENSP00000482264   ⟸   ENST00000528718
RefSeq Acc Id: XP_047278343   ⟸   XM_047422387
- Peptide Label: isoform X2
- UniProtKB: Q9BRH5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278345   ⟸   XM_047422389
- Peptide Label: isoform X3
- UniProtKB: Q9BRH5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278344   ⟸   XM_047422388
- Peptide Label: isoform X3
- UniProtKB: Q9BRH5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217411   ⟸   XM_054361436
- Peptide Label: isoform X2
- UniProtKB: Q9BRH5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217410   ⟸   XM_054361435
- Peptide Label: isoform X1
- UniProtKB: Q9BRH5 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75907-F1-model_v2 AlphaFold O75907 1-488 view protein structure

Promoters
RGD ID:7214463
Promoter ID:EPDNEW_H12971
Type:initiation region
Name:DGAT1_1
Description:diacylglycerol O-acyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,326,852 - 144,326,912EPDNEW
RGD ID:6813380
Promoter ID:HG_ACW:79419
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:DGAT1.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,515,881 - 145,516,687 (-)MPROMDB
RGD ID:6806606
Promoter ID:HG_KWN:62331
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012079,   UC010MFV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,521,051 - 145,521,551 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2843 AgrOrtholog
COSMIC DGAT1 COSMIC
Ensembl Genes ENSG00000185000 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285482 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000332324.5 UniProtKB/TrEMBL
  ENST00000528718 ENTREZGENE
  ENST00000528718.6 UniProtKB/Swiss-Prot
  ENST00000644790.2 UniProtKB/Swiss-Prot
GTEx ENSG00000185000 GTEx
  ENSG00000285482 GTEx
HGNC ID HGNC:2843 ENTREZGENE
Human Proteome Map DGAT1 Human Proteome Map
InterPro Diacylglycerol_acylTrfase1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MBOAT_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oat_ACAT_DAG_ARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8694 UniProtKB/Swiss-Prot
NCBI Gene 8694 ENTREZGENE
OMIM 604900 OMIM
PANTHER DIACYLGLYCEROL O-ACYLTRANSFERASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10408 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MBOAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27303 PharmGKB
PIRSF Oat_ACAT_DAG_ARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oat_dag UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MR74_HUMAN UniProtKB/TrEMBL
  B2RWQ2 ENTREZGENE
  D3DWL6 ENTREZGENE
  DGAT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96BB8 ENTREZGENE
  Q9BRH5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2RWQ2 UniProtKB/Swiss-Prot
  D3DWL6 UniProtKB/Swiss-Prot
  Q96BB8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 DGAT1  diacylglycerol O-acyltransferase 1  DGAT1  diacylglycerol O-acyltransferase homolog 1 (mouse)  Symbol and/or name change 5135510 APPROVED