MTTP (microsomal triglyceride transfer protein) - Rat Genome Database

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Gene: MTTP (microsomal triglyceride transfer protein) Homo sapiens
Analyze
Symbol: MTTP
Name: microsomal triglyceride transfer protein
RGD ID: 1318126
HGNC Page HGNC:7467
Description: Enables lipid transfer activity and protein heterodimerization activity. Involved in several processes, including plasma lipoprotein particle assembly; protein secretion; and triglyceride transport. Located in Golgi apparatus; cytosol; and endoplasmic reticulum. Part of receptor complex. Implicated in several diseases, including abetalipoproteinemia; familial hypercholesterolemia; hyperinsulinism; metabolic dysfunction-associated steatotic liver disease; and obesity. Biomarker of steatotic liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABL; MGC149819; MGC149820; microsomal triglyceride transfer protein (large polypeptide, 88kDa); microsomal triglyceride transfer protein large subunit; MTP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38499,564,130 - 99,623,997 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl499,564,081 - 99,623,997 (+)EnsemblGRCh38hg38GRCh38
GRCh374100,485,287 - 100,545,154 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364100,704,263 - 100,764,177 (+)NCBINCBI36Build 36hg18NCBI36
Build 344100,853,158 - 100,901,804NCBI
Celera497,782,659 - 97,842,577 (+)NCBICelera
Cytogenetic Map4q23NCBI
HuRef496,223,283 - 96,283,485 (+)NCBIHuRef
CHM1_14100,461,713 - 100,521,565 (+)NCBICHM1_1
T2T-CHM13v2.04102,878,899 - 102,939,426 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-taxifolin  (EXP)
(1->4)-beta-D-glucan  (ISO)
(R)-carnitine  (ISO)
1,1-dichloroethene  (ISO)
1,2,3-trilinolenoylglycerol  (ISO)
1,2,3-trilinoleoylglycerol  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (EXP,ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP,ISO)
allopurinol  (EXP)
amiodarone  (EXP)
antirheumatic drug  (EXP)
atazanavir sulfate  (EXP)
atorvastatin calcium  (EXP,ISO)
bafilomycin A1  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzylpenicillin  (ISO)
berberine  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bosentan  (EXP)
buspirone  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
CDN1163  (EXP)
chenodeoxycholic acid  (EXP)
chloroquine  (EXP,ISO)
chlorothalonil  (ISO)
choline  (ISO)
cisplatin  (ISO)
clofibrate  (EXP,ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
cyproconazole  (EXP)
deoxycholic acid  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
Dicyclohexyl phthalate  (ISO)
endosulfan  (ISO)
enilconazole  (EXP)
entinostat  (EXP)
erythromycin A  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
glycyrrhizinic acid  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
GW 4064  (EXP)
GW 7647  (EXP)
hexadecanoic acid  (EXP)
indinavir  (EXP)
indometacin  (EXP)
isosilybin  (EXP)
L-methionine  (ISO)
lactacystin  (ISO)
lead(0)  (EXP,ISO)
lipopolysaccharide  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
mevalonic acid  (ISO)
microcystin-LR  (ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nefazodone  (EXP)
nickel atom  (EXP)
nickel dichloride  (ISO)
O-methyleugenol  (EXP)
oleic acid  (EXP)
ozone  (ISO)
paracetamol  (EXP)
perfluorobutanesulfonic acid  (EXP)
perfluorobutyric acid  (EXP)
perfluorodecanoic acid  (EXP)
perfluorododecanoic acid  (EXP)
perfluoroheptanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorohexanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanesulfonamide  (EXP)
perfluorooctanoic acid  (EXP,ISO)
perfluoroundecanoic acid  (EXP)
pirinixic acid  (ISO)
procymidone  (ISO)
propiconazole  (ISO)
PX-866  (ISO)
quercetin  (EXP)
rifampicin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sorafenib  (EXP)
stavudine  (ISO)
sulfluramid  (EXP)
sulindac  (EXP)
Sunset Yellow FCF  (EXP)
tartrazine  (EXP)
taurine  (ISO)
teniposide  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (EXP,ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (EXP)
triazines  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triolein  (ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
trovafloxacin  (ISO)
tuberostemonine  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
voriconazole  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abetalipoproteinemia  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal circulating apolipoprotein concentration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the nervous system  (IAGP)
Acanthocytosis  (IAGP)
Anemia  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Blindness  (IAGP)
Broad-based gait  (IAGP)
Cardiomegaly  (IAGP)
Chronic diarrhea  (IAGP)
Cirrhosis  (IAGP)
CNS demyelination  (IAGP)
Color vision defect  (IAGP)
Congestive heart failure  (IAGP)
Corneal ulceration  (IAGP)
Decreased circulating vitamin D concentration  (IAGP)
Decreased circulating vitamin E concentration  (IAGP)
Decreased erythrocyte sedimentation rate  (IAGP)
Decreased HDL cholesterol concentration  (IAGP)
Decreased LDL cholesterol concentration  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Failure to thrive  (IAGP)
Fat malabsorption  (IAGP)
Gait ataxia  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatic steatosis  (IAGP)
Hepatomegaly  (IAGP)
Hyperbilirubinemia  (IAGP)
Hypoalbuminemia  (IAGP)
Hypocholesterolemia  (IAGP)
Hypopigmentation of the fundus  (IAGP)
Hypothyroidism  (IAGP)
Hypotriglyceridemia  (IAGP)
Impaired distal proprioception  (IAGP)
Impaired proprioception  (IAGP)
Impaired vibratory sensation  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Kyphoscoliosis  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Nyctalopia  (IAGP)
Ophthalmoplegia  (IAGP)
Osteopenia  (IAGP)
Peripheral demyelination  (IAGP)
Pes cavus  (IAGP)
Positive Romberg sign  (IAGP)
Progressive visual loss  (IAGP)
Prolonged prothrombin time  (IAGP)
Ptosis  (IAGP)
Reduced circulating vitamin A concentration  (IAGP)
Respiratory failure  (IAGP)
Reticulocytosis  (IAGP)
Retinal degeneration  (IAGP)
Retinopathy  (IAGP)
Rod-cone dystrophy  (IAGP)
Scotoma  (IAGP)
Steatorrhea  (IAGP)
Steppage gait  (IAGP)
Talipes equinovarus  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Triglyceride-lowering effect of pitavastatin in a rat model of postprandial lipemia. Aoki T, etal., Eur J Pharmacol. 2002 May 24;444(1-2):107-13.
2. Molecular screening of the microsomal triglyceride transfer protein: association between polymorphisms and both abdominal obesity and plasma apolipoprotein B concentration. Berthier MT, etal., J Hum Genet. 2004;49(12):684-90. Epub 2004 Nov 10.
3. The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. Berthier MT, etal., Mol Genet Metab. 2004 Feb;81(2):140-3.
4. Association of neuropeptide Y receptor Y5 polymorphisms with dyslipidemia in Mexican Americans. Coletta DK, etal., Obesity (Silver Spring). 2007 Apr;15(4):809-15.
5. Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. Cuchel M, etal., N Engl J Med. 2007 Jan 11;356(2):148-56.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. The microsomal triglyceride transfer protein gene-493T variant lowers cholesterol but increases the risk of coronary heart disease. Ledmyr H, etal., Circulation. 2004 May 18;109(19):2279-84. Epub 2004 May 10.
8. Liver microsomal triglyceride transfer protein is involved in hepatitis C liver steatosis. Mirandola S, etal., Gastroenterology. 2006 May;130(6):1661-9. Epub 2006 Mar 6.
9. Polymorphisms of microsomal triglyceride transfer protein gene and manganese superoxide dismutase gene in non-alcoholic steatohepatitis. Namikawa C, etal., J Hepatol. 2004 May;40(5):781-6.
10. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Narcisi TM, etal., Am J Hum Genet. 1995 Dec;57(6):1298-310.
11. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. Ohashi K, etal., J Lipid Res. 2000 Aug;41(8):1199-204.
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Visceral obesity and hyperinsulinemia modulate the impact of the microsomal triglyceride transfer protein -493G/T polymorphism on plasma lipoprotein levels in men. St-Pierre J, etal., Atherosclerosis. 2002 Feb;160(2):317-24.
16. Association of a microsomal triglyceride transfer protein gene polymorphism with blood pressure in Japanese women. Yamada Y, etal., Int J Mol Med. 2006 Jan;17(1):83-8.
Additional References at PubMed
PMID:1439810   PMID:7545943   PMID:7664034   PMID:7961826   PMID:8111381   PMID:8125298   PMID:8361539   PMID:8856971   PMID:8876250   PMID:8939939   PMID:9106493   PMID:9211060  
PMID:9694898   PMID:9915855   PMID:10679949   PMID:11358959   PMID:11792722   PMID:11834530   PMID:12020640   PMID:12116231   PMID:12231571   PMID:12477932   PMID:12630961   PMID:12691171  
PMID:12716735   PMID:12775233   PMID:12818411   PMID:14615589   PMID:14732481   PMID:15028851   PMID:15297289   PMID:15337761   PMID:15489334   PMID:15504742   PMID:15547294   PMID:15547295  
PMID:15654125   PMID:15701598   PMID:15719047   PMID:15795421   PMID:15864113   PMID:15897609   PMID:15911777   PMID:15953542   PMID:16015282   PMID:16183064   PMID:16291571   PMID:16321277  
PMID:16344560   PMID:16458034   PMID:16478722   PMID:16518588   PMID:16611701   PMID:16617174   PMID:16712791   PMID:16721486   PMID:17275380   PMID:17339647   PMID:17464986   PMID:17476189  
PMID:17647275   PMID:17690102   PMID:17700364   PMID:17784784   PMID:17825806   PMID:17854051   PMID:17924655   PMID:18027103   PMID:18034366   PMID:18065580   PMID:18280132   PMID:18325332  
PMID:18482281   PMID:18497882   PMID:18497885   PMID:18624350   PMID:18803359   PMID:18951054   PMID:18996102   PMID:19018985   PMID:19056372   PMID:19155782   PMID:19255880   PMID:19262398  
PMID:19403348   PMID:19420105   PMID:19501864   PMID:19546343   PMID:19689828   PMID:19733470   PMID:19817962   PMID:19913121   PMID:20007910   PMID:20592474   PMID:20602615   PMID:20628086  
PMID:20855565   PMID:21316344   PMID:21394827   PMID:21438662   PMID:21502686   PMID:21727734   PMID:21873635   PMID:22147193   PMID:22150066   PMID:22236406   PMID:22357705   PMID:22496539  
PMID:23043934   PMID:23273182   PMID:23356586   PMID:23382219   PMID:23475612   PMID:23532846   PMID:23556456   PMID:23609384   PMID:23738963   PMID:23749231   PMID:23936387   PMID:24139731  
PMID:24378322   PMID:24588800   PMID:24842304   PMID:25108285   PMID:25287167   PMID:25501226   PMID:25921304   PMID:26224785   PMID:26458397   PMID:26549023   PMID:26912792   PMID:27160094  
PMID:27170061   PMID:27256115   PMID:27487388   PMID:27841945   PMID:28356060   PMID:28514664   PMID:28702990   PMID:28902428   PMID:28950858   PMID:28953935   PMID:29540175   PMID:29698057  
PMID:30021884   PMID:30246767   PMID:30358967   PMID:30522860   PMID:30782561   PMID:30790698   PMID:31353085   PMID:31387896   PMID:31395737   PMID:31533023   PMID:32047110   PMID:32760060  
PMID:33005030   PMID:33258201   PMID:33924242   PMID:34052173   PMID:34206252   PMID:34673018   PMID:35575683   PMID:36027755   PMID:36053190   PMID:36215168   PMID:36228741   PMID:36724073  
PMID:37726765   PMID:38290649   PMID:38325741  


Genomics

Comparative Map Data
MTTP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38499,564,130 - 99,623,997 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl499,564,081 - 99,623,997 (+)EnsemblGRCh38hg38GRCh38
GRCh374100,485,287 - 100,545,154 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364100,704,263 - 100,764,177 (+)NCBINCBI36Build 36hg18NCBI36
Build 344100,853,158 - 100,901,804NCBI
Celera497,782,659 - 97,842,577 (+)NCBICelera
Cytogenetic Map4q23NCBI
HuRef496,223,283 - 96,283,485 (+)NCBIHuRef
CHM1_14100,461,713 - 100,521,565 (+)NCBICHM1_1
T2T-CHM13v2.04102,878,899 - 102,939,426 (+)NCBIT2T-CHM13v2.0
Mttp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393137,795,616 - 137,849,179 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3137,795,615 - 137,850,729 (-)EnsemblGRCm39 Ensembl
GRCm383138,089,855 - 138,143,418 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3138,089,854 - 138,144,968 (-)EnsemblGRCm38mm10GRCm38
MGSCv373137,752,819 - 137,806,352 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363138,028,273 - 138,068,711 (-)NCBIMGSCv36mm8
Celera3144,502,913 - 144,554,347 (-)NCBICelera
Cytogenetic Map3G3NCBI
cM Map364.06NCBI
Mttp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82229,286,501 - 229,327,650 (-)NCBIGRCr8
mRatBN7.22226,613,090 - 226,654,239 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2226,613,090 - 226,654,239 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2234,352,193 - 234,393,386 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02232,251,937 - 232,293,127 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02227,116,603 - 227,157,800 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02243,366,181 - 243,407,608 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2243,366,181 - 243,407,608 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02261,907,825 - 261,948,693 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42235,613,710 - 235,654,848 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12235,600,461 - 235,641,567 (-)NCBI
Celera2218,769,332 - 218,810,411 (-)NCBICelera
Cytogenetic Map2q43NCBI
Mttp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554967,963,262 - 8,009,838 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554967,963,323 - 8,022,393 (-)NCBIChiLan1.0ChiLan1.0
MTTP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2397,646,193 - 97,705,596 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1497,929,920 - 97,989,327 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0491,987,756 - 92,047,127 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14102,648,793 - 102,708,107 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4102,648,793 - 102,708,107 (+)Ensemblpanpan1.1panPan2
MTTP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13221,582,368 - 21,626,806 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3221,570,801 - 21,628,624 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3220,269,932 - 20,326,464 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03221,791,316 - 21,847,942 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3221,803,303 - 21,847,792 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13221,768,037 - 21,824,593 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03221,555,521 - 21,612,308 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03218,256,944 - 18,313,535 (-)NCBIUU_Cfam_GSD_1.0
Mttp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530119,994,708 - 20,057,294 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365203,338,881 - 3,381,627 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365203,337,726 - 3,417,818 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTTP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8120,820,656 - 120,879,388 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18120,820,660 - 120,871,468 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28130,036,478 - 130,087,445 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTTP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1747,706,591 - 47,765,154 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl747,717,089 - 47,765,149 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603726,182,236 - 26,230,115 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mttp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248307,464,686 - 7,506,129 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248307,463,671 - 7,505,607 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTTP
976 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001386140.1(MTTP):c.215del (p.Pro72fs) deletion Abetalipoproteinaemia [RCV000015302]|not provided [RCV003556023] Chr4:99582057 [GRCh38]
Chr4:100503214 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) single nucleotide variant Abetalipoproteinaemia [RCV000015303]|MTTP-related disorder [RCV003398517]|not provided [RCV001851870] Chr4:99611156 [GRCh38]
Chr4:100532313 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1867+5G>A single nucleotide variant Abetalipoproteinaemia [RCV000015304]|not provided [RCV003556024] Chr4:99611245 [GRCh38]
Chr4:100532402 [GRCh37]
Chr4:4q23		 pathogenic|likely pathogenic
NM_001386140.1(MTTP):c.1237-1G>A single nucleotide variant Abetalipoproteinaemia [RCV000015305] Chr4:99601606 [GRCh38]
Chr4:100522763 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) single nucleotide variant Abetalipoproteinaemia [RCV000015306]|not provided [RCV001222493] Chr4:99608827 [GRCh38]
Chr4:100529984 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del) deletion Abetalipoproteinaemia [RCV000015307] Chr4:4q22-q24 pathogenic
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) single nucleotide variant Abetalipoproteinaemia [RCV000015308] Chr4:99619094 [GRCh38]
Chr4:100540251 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) single nucleotide variant Abetalipoproteinaemia [RCV000015309] Chr4:99608977 [GRCh38]
Chr4:100530134 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) single nucleotide variant Abetalipoproteinaemia [RCV000333725]|Abetalipoproteinaemia [RCV002496371]|RECLASSIFIED - MTTP POLYMORPHISM [RCV000015310]|not provided [RCV001522091]|not specified [RCV000117636] Chr4:99583507 [GRCh38]
Chr4:100504664 [GRCh37]
Chr4:4q23		 benign|likely benign|conflicting interpretations of pathogenicity|protective
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) single nucleotide variant Abetalipoproteinaemia [RCV000015311]|not provided [RCV000760413] Chr4:99622756 [GRCh38]
Chr4:100543913 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.978C>G (p.Val326=) single nucleotide variant not provided [RCV001495081] Chr4:99597135 [GRCh38]
Chr4:100518292 [GRCh37]
Chr4:4q23		 likely benign
GRCh38/hg38 4q23(chr4:97972342-100038125)x3 copy number gain See cases [RCV000051632] Chr4:97972342..100038125 [GRCh38]
Chr4:98893493..100959282 [GRCh37]
Chr4:99112516..101178305 [NCBI36]
Chr4:4q23		 uncertain significance
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
NM_001386140.1(MTTP):c.555G>A (p.Val185=) single nucleotide variant not provided [RCV001425465] Chr4:99591288 [GRCh38]
Chr4:100512445 [GRCh37]
Chr4:100731468 [NCBI36]
Chr4:4q23		 likely benign|not provided
NM_000253.3(MTTP):c.570C>T (p.Ala190=) single nucleotide variant Malignant melanoma [RCV000074308] Chr4:99591303 [GRCh38]
Chr4:100512460 [GRCh37]
Chr4:100731483 [NCBI36]
Chr4:4q23		 not provided
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) single nucleotide variant Abetalipoproteinaemia [RCV000271514]|not provided [RCV001522092]|not specified [RCV000117637] Chr4:99589702 [GRCh38]
Chr4:100510859 [GRCh37]
Chr4:4q23		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) single nucleotide variant Abetalipoproteinaemia [RCV000322921]|not provided [RCV001512214]|not specified [RCV000117638] Chr4:99591255 [GRCh38]
Chr4:100512412 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) single nucleotide variant Abetalipoproteinaemia [RCV000625114]|not provided [RCV001520399]|not specified [RCV000117639] Chr4:99591762 [GRCh38]
Chr4:100512919 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) single nucleotide variant Abetalipoproteinaemia [RCV000348296]|not provided [RCV001522093]|not specified [RCV000117640] Chr4:99594865 [GRCh38]
Chr4:100516022 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) single nucleotide variant Abetalipoproteinaemia [RCV000370519]|not provided [RCV001522095]|not specified [RCV000117641] Chr4:99597126 [GRCh38]
Chr4:100518283 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) single nucleotide variant Abetalipoproteinaemia [RCV000368352]|not provided [RCV001522090]|not specified [RCV000178064] Chr4:99583409 [GRCh38]
Chr4:100504566 [GRCh37]
Chr4:4q23		 benign|likely benign
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24		 pathogenic
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 copy number loss See cases [RCV000140412] Chr4:92610413..101521991 [GRCh38]
Chr4:93531564..102443148 [GRCh37]
Chr4:93750587..102662171 [NCBI36]
Chr4:4q22.1-24		 pathogenic
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) single nucleotide variant Abetalipoproteinaemia [RCV001151100]|MTTP-related disorder [RCV003937616]|not provided [RCV000178738] Chr4:99589668 [GRCh38]
Chr4:100510825 [GRCh37]
Chr4:4q23		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) single nucleotide variant Abetalipoproteinaemia [RCV000625116]|not provided [RCV001510429]|not specified [RCV001175049] Chr4:99611445 [GRCh38]
Chr4:99611445..99611446 [GRCh38]
Chr4:100532602 [GRCh37]
Chr4:100532602..100532603 [GRCh37]
Chr4:4q23		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.*382T>C single nucleotide variant Abetalipoproteinaemia [RCV000259348] Chr4:99623230 [GRCh38]
Chr4:100544387 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*506A>G single nucleotide variant Abetalipoproteinaemia [RCV000263037]|not provided [RCV004716130] Chr4:99623354 [GRCh38]
Chr4:100544511 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) single nucleotide variant Abetalipoproteinaemia [RCV000607200]|not provided [RCV001522096]|not specified [RCV000279021] Chr4:99600648 [GRCh38]
Chr4:100521805 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) single nucleotide variant Abetalipoproteinaemia [RCV000625396]|MTTP-related disorder [RCV004752823]|not provided [RCV000338031]|not specified [RCV001700028] Chr4:99621151 [GRCh38]
Chr4:100542308 [GRCh37]
Chr4:4q23		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val) single nucleotide variant Abetalipoproteinaemia [RCV000278394]|not provided [RCV001850839] Chr4:99591727 [GRCh38]
Chr4:100512884 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.-84T>C single nucleotide variant Abetalipoproteinaemia [RCV000285368]|not provided [RCV004695768] Chr4:99574826 [GRCh38]
Chr4:100495983 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) single nucleotide variant Abetalipoproteinaemia [RCV000612694]|not provided [RCV000954625]|not specified [RCV001699381] Chr4:99591235 [GRCh38]
Chr4:100512392 [GRCh37]
Chr4:4q23		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.*862C>A single nucleotide variant Abetalipoproteinaemia [RCV000270580]|not provided [RCV004716131] Chr4:99623710 [GRCh38]
Chr4:100544867 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) single nucleotide variant Abetalipoproteinaemia [RCV001275670]|not provided [RCV000487586]|not specified [RCV000734434] Chr4:99622836 [GRCh38]
Chr4:100543993 [GRCh37]
Chr4:4q23		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) single nucleotide variant Abetalipoproteinaemia [RCV000276357]|not provided [RCV001522721]|not specified [RCV001192652] Chr4:99583418 [GRCh38]
Chr4:99583418..99583419 [GRCh38]
Chr4:100504575 [GRCh37]
Chr4:100504575..100504576 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.1769+9C>T single nucleotide variant Abetalipoproteinaemia [RCV000267002]|not provided [RCV001522097] Chr4:99608986 [GRCh38]
Chr4:100530143 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser) single nucleotide variant Abetalipoproteinaemia [RCV000273108]|not provided [RCV001090877] Chr4:99606880 [GRCh38]
Chr4:100528037 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) single nucleotide variant Abetalipoproteinaemia [RCV000313466]|not provided [RCV001522094] Chr4:99597090 [GRCh38]
Chr4:100518247 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) single nucleotide variant Abetalipoproteinaemia [RCV000375996]|MTTP-related disorder [RCV003912467]|not provided [RCV000881195] Chr4:99612966 [GRCh38]
Chr4:100534123 [GRCh37]
Chr4:4q23		 benign|likely benign|uncertain significance
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) single nucleotide variant Abetalipoproteinaemia [RCV000376488]|not provided [RCV001522722]|not specified [RCV001192653] Chr4:99589746 [GRCh38]
Chr4:100510903 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.-6G>A single nucleotide variant Abetalipoproteinaemia [RCV000355527]|not provided [RCV000998244] Chr4:99574904 [GRCh38]
Chr4:100496061 [GRCh37]
Chr4:4q23		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) single nucleotide variant Abetalipoproteinaemia [RCV000379788]|not provided [RCV001510428]|not specified [RCV001175009] Chr4:99591692 [GRCh38]
Chr4:100512849 [GRCh37]
Chr4:4q23		 benign|likely benign|uncertain significance
NM_001386140.1(MTTP):c.*183C>T single nucleotide variant Abetalipoproteinaemia [RCV000303961]|not provided [RCV001613143] Chr4:99623031 [GRCh38]
Chr4:100544188 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.799T>C (p.Leu267=) single nucleotide variant Abetalipoproteinaemia [RCV000403692]|not provided [RCV000921720] Chr4:99594773 [GRCh38]
Chr4:100515930 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_000253.3(MTTP):c.-252G>C single nucleotide variant Abetalipoproteinaemia [RCV000288415]|not provided [RCV004716128]|not specified [RCV001729556] Chr4:99564087 [GRCh38]
Chr4:100485244 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1769+3A>G single nucleotide variant Abetalipoproteinaemia [RCV000359611]|not provided [RCV001245593] Chr4:99608980 [GRCh38]
Chr4:100530137 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000253.3(MTTP):c.-214G>A single nucleotide variant Abetalipoproteinaemia [RCV000600514]|MTTP-related disorder [RCV003902338]|not provided [RCV001727699]|not specified [RCV001700073] Chr4:99564125 [GRCh38]
Chr4:100485282 [GRCh37]
Chr4:4q23		 benign|likely benign|uncertain significance
NM_001386140.1(MTTP):c.1557+7T>A single nucleotide variant Abetalipoproteinaemia [RCV000321181]|not provided [RCV000889565] Chr4:99606967 [GRCh38]
Chr4:100528124 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.*279C>G single nucleotide variant Abetalipoproteinaemia [RCV000361171]|not provided [RCV001591004] Chr4:99623127 [GRCh38]
Chr4:100544284 [GRCh37]
Chr4:4q23		 benign|likely benign|uncertain significance
NM_001386140.1(MTTP):c.-82C>T single nucleotide variant Abetalipoproteinaemia [RCV000342573]|not provided [RCV004695769] Chr4:99574828 [GRCh38]
Chr4:100495985 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.394-7C>T single nucleotide variant Abetalipoproteinaemia [RCV000362686]|not provided [RCV000894325] Chr4:99589636 [GRCh38]
Chr4:100510793 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) single nucleotide variant Abetalipoproteinaemia [RCV000307655]|not provided [RCV000894326]|not specified [RCV001700335] Chr4:99597180 [GRCh38]
Chr4:100518337 [GRCh37]
Chr4:4q23		 benign|likely benign|uncertain significance
NM_001386140.1(MTTP):c.1769+14C>T single nucleotide variant Abetalipoproteinaemia [RCV000625115]|not provided [RCV001513413]|not specified [RCV001700336] Chr4:99608991 [GRCh38]
Chr4:100530148 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.*694A>C single nucleotide variant Abetalipoproteinaemia [RCV000386815] Chr4:99623542 [GRCh38]
Chr4:100544699 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn) single nucleotide variant Abetalipoproteinaemia [RCV000293276]|not provided [RCV001242950] Chr4:99613090 [GRCh38]
Chr4:100534247 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*989T>C single nucleotide variant Abetalipoproteinaemia [RCV000325609] Chr4:99623837 [GRCh38]
Chr4:100544994 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) single nucleotide variant Abetalipoproteinaemia [RCV000601949]|Inborn genetic diseases [RCV004021936]|MTTP-related disorder [RCV004752870]|not provided [RCV001245458] Chr4:99622820 [GRCh38]
Chr4:100543977 [GRCh37]
Chr4:4q23		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.2513+13G>A single nucleotide variant Abetalipoproteinaemia [RCV000614210]|not provided [RCV001520334]|not specified [RCV001699382] Chr4:99621244 [GRCh38]
Chr4:100542401 [GRCh37]
Chr4:4q23		 benign|likely benign|uncertain significance
NM_000253.3(MTTP):c.-241G>A single nucleotide variant Abetalipoproteinaemia [RCV000326207]|not provided [RCV004716129] Chr4:99564098 [GRCh38]
Chr4:100485255 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.*1046C>G single nucleotide variant Abetalipoproteinaemia [RCV000295065]|not provided [RCV004716132] Chr4:99623894 [GRCh38]
Chr4:100545051 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.*55G>C single nucleotide variant Abetalipoproteinaemia [RCV000309881] Chr4:99622903 [GRCh38]
Chr4:100544060 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) single nucleotide variant Abetalipoproteinaemia [RCV000607588]|not provided [RCV001522571]|not specified [RCV001700074] Chr4:99581979 [GRCh38]
Chr4:100503136 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) single nucleotide variant Abetalipoproteinaemia [RCV000328976]|Inborn genetic diseases [RCV004021932]|not provided [RCV000900718] Chr4:99589739 [GRCh38]
Chr4:100510896 [GRCh37]
Chr4:4q23		 benign|likely benign|uncertain significance
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg) single nucleotide variant Abetalipoproteinaemia [RCV000393272]|Inborn genetic diseases [RCV004021934] Chr4:99594875 [GRCh38]
Chr4:100516032 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val) single nucleotide variant Abetalipoproteinaemia [RCV000393258]|Inborn genetic diseases [RCV004021935]|not provided [RCV002520191] Chr4:99597173 [GRCh38]
Chr4:100518330 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg) single nucleotide variant Abetalipoproteinaemia [RCV000296581]|not provided [RCV000948683] Chr4:99622799 [GRCh38]
Chr4:100543956 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.*1118C>T single nucleotide variant Abetalipoproteinaemia [RCV000350027] Chr4:99623966 [GRCh38]
Chr4:100545123 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala) single nucleotide variant Abetalipoproteinaemia [RCV000372042]|not provided [RCV001343278]|not specified [RCV004767240] Chr4:99611352 [GRCh38]
Chr4:100532509 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) single nucleotide variant Abetalipoproteinaemia [RCV000396400]|not provided [RCV001522089] Chr4:99574948 [GRCh38]
Chr4:100496105 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.-54C>T single nucleotide variant Abetalipoproteinaemia [RCV000396402] Chr4:99574856 [GRCh38]
Chr4:100496013 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg) single nucleotide variant Abetalipoproteinaemia [RCV000281649]|Inborn genetic diseases [RCV004021933]|not provided [RCV001351055] Chr4:99594807 [GRCh38]
Chr4:100515964 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) single nucleotide variant Abetalipoproteinaemia [RCV001145100]|not provided [RCV000277823] Chr4:99612948 [GRCh38]
Chr4:100534105 [GRCh37]
Chr4:4q23		 conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) single nucleotide variant Abetalipoproteinaemia [RCV001275666]|not provided [RCV000923467]|not specified [RCV000312000] Chr4:99608939 [GRCh38]
Chr4:100530096 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) single nucleotide variant Abetalipoproteinaemia [RCV001828278]|not provided [RCV000316882] Chr4:99608923 [GRCh38]
Chr4:100530080 [GRCh37]
Chr4:4q23		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp) single nucleotide variant Abetalipoproteinaemia [RCV001277713]|Inborn genetic diseases [RCV004649551]|not provided [RCV001351032] Chr4:99613088 [GRCh38]
Chr4:100534245 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.43T>C (p.Tyr15His) single nucleotide variant not provided [RCV000488104] Chr4:99574952 [GRCh38]
Chr4:100496109 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=) single nucleotide variant Abetalipoproteinaemia [RCV001277714]|not provided [RCV002069411] Chr4:99622713 [GRCh38]
Chr4:100543870 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.2212del (p.Ser738fs) deletion Abetalipoproteinaemia [RCV000588539]|not provided [RCV001853979] Chr4:99613134 [GRCh38]
Chr4:100534291 [GRCh37]
Chr4:4q23		 pathogenic|likely pathogenic
NM_000253.4(MTTP):c.-205G>A single nucleotide variant Abetalipoproteinaemia [RCV000290993] Chr4:99564134 [GRCh38]
Chr4:100485291 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*517A>T single nucleotide variant Abetalipoproteinaemia [RCV000329928] Chr4:99623365 [GRCh38]
Chr4:100544522 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*41A>G single nucleotide variant Abetalipoproteinaemia [RCV000402948] Chr4:99622889 [GRCh38]
Chr4:100544046 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000253.4(MTTP):c.-149C>A single nucleotide variant Abetalipoproteinaemia [RCV000404090] Chr4:99564190 [GRCh38]
Chr4:100485347 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys) single nucleotide variant Abetalipoproteinaemia [RCV000319032]|not provided [RCV001046810] Chr4:99612964 [GRCh38]
Chr4:100534121 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*1044G>T single nucleotide variant Abetalipoproteinaemia [RCV000389447] Chr4:99623892 [GRCh38]
Chr4:100545049 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*454dup duplication Abetalipoproteinaemia [RCV000298256] Chr4:99623283..99623284 [GRCh38]
Chr4:100544440..100544441 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.-28T>C single nucleotide variant Abetalipoproteinaemia [RCV000298354] Chr4:99574882 [GRCh38]
Chr4:100496039 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000253.4(MTTP):c.-153C>G single nucleotide variant Abetalipoproteinaemia [RCV000338940] Chr4:99564186 [GRCh38]
Chr4:100485343 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*82G>A single nucleotide variant Abetalipoproteinaemia [RCV000339040] Chr4:99622930 [GRCh38]
Chr4:100544087 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*490_*494del deletion Abetalipoproteinaemia [RCV000355423] Chr4:99623338..99623342 [GRCh38]
Chr4:100544495..100544499 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*98T>A single nucleotide variant Abetalipoproteinaemia [RCV000397977] Chr4:99622946 [GRCh38]
Chr4:100544103 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1401A>G (p.Lys467=) single nucleotide variant not provided [RCV000885182]|not specified [RCV000730095] Chr4:99606804 [GRCh38]
Chr4:100527961 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met) single nucleotide variant Abetalipoproteinaemia [RCV001830621]|not provided [RCV000732342] Chr4:99583492 [GRCh38]
Chr4:100504649 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001386140.1(MTTP):c.708_709del (p.His236fs) microsatellite Abetalipoproteinaemia [RCV000500344]|not provided [RCV001068073] Chr4:99591735..99591736 [GRCh38]
Chr4:100512892..100512893 [GRCh37]
Chr4:4q23		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1 copy number loss See cases [RCV000511194] Chr4:92201567..103043808 [GRCh37]
Chr4:4q22.1-24		 pathogenic
NM_001386140.1(MTTP):c.1016C>A (p.Ala339Glu) single nucleotide variant not provided [RCV001945003] Chr4:99597173 [GRCh38]
Chr4:100518330 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn) single nucleotide variant Abetalipoproteinaemia [RCV000625394]|MTTP-related disorder [RCV003927934]|not provided [RCV000879647]|not specified [RCV000595861] Chr4:99591285 [GRCh38]
Chr4:100512442 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1770-10T>C single nucleotide variant Abetalipoproteinaemia [RCV000625395]|not specified [RCV001700424] Chr4:99611133 [GRCh38]
Chr4:100532290 [GRCh37]
Chr4:4q23		 benign|likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001386140.1(MTTP):c.1558-2A>G single nucleotide variant Abetalipoproteinaemia [RCV000674027] Chr4:99608764 [GRCh38]
Chr4:100529921 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala) single nucleotide variant Abetalipoproteinaemia [RCV001578626]|not provided [RCV002570815] Chr4:99621096 [GRCh38]
Chr4:100542253 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg) single nucleotide variant Abetalipoproteinaemia [RCV001578628] Chr4:99622837 [GRCh38]
Chr4:100543994 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001386140.1(MTTP):c.2448A>G (p.Thr816=) single nucleotide variant not provided [RCV000976558] Chr4:99621166 [GRCh38]
Chr4:100542323 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1617G>A (p.Val539=) single nucleotide variant not provided [RCV000938237] Chr4:99608825 [GRCh38]
Chr4:100529982 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1068-108del deletion not provided [RCV001708043] Chr4:99600448 [GRCh38]
Chr4:100521605 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1770-68del deletion not provided [RCV001680665] Chr4:99611066 [GRCh38]
Chr4:100532223 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.648T>A (p.Ser216=) single nucleotide variant not provided [RCV000978416] Chr4:99591680 [GRCh38]
Chr4:100512837 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) single nucleotide variant Abetalipoproteinaemia [RCV001147756]|MTTP-related disorder [RCV003960546]|not provided [RCV000941545] Chr4:99581954 [GRCh38]
Chr4:100503111 [GRCh37]
Chr4:4q23		 benign|likely benign|uncertain significance
NM_001386140.1(MTTP):c.2658G>A (p.Pro886=) single nucleotide variant not provided [RCV000976478] Chr4:99622821 [GRCh38]
Chr4:100543978 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu) single nucleotide variant Abetalipoproteinaemia [RCV001832491]|Inborn genetic diseases [RCV004031701]|not provided [RCV001054110] Chr4:99621175 [GRCh38]
Chr4:100542332 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*436A>G single nucleotide variant Abetalipoproteinaemia [RCV001147948] Chr4:99623284 [GRCh38]
Chr4:100544441 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2634C>G (p.Cys878Trp) single nucleotide variant not provided [RCV000998245] Chr4:99622797 [GRCh38]
Chr4:100543954 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser) single nucleotide variant Abetalipoproteinaemia [RCV001146947] Chr4:99594756 [GRCh38]
Chr4:100515913 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1814del (p.Tyr605fs) deletion not provided [RCV001060465] Chr4:99611187 [GRCh38]
Chr4:100532344 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.186C>T (p.Asn62=) single nucleotide variant not provided [RCV000923033] Chr4:99582029 [GRCh38]
Chr4:100503186 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2607G>A (p.Pro869=) single nucleotide variant not provided [RCV000928040] Chr4:99622770 [GRCh38]
Chr4:100543927 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.618+10A>T single nucleotide variant not provided [RCV000945035] Chr4:99591361 [GRCh38]
Chr4:100512518 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.162C>T (p.Ser54=) single nucleotide variant MTTP-related disorder [RCV003960382]|not provided [RCV000919934] Chr4:99582005 [GRCh38]
Chr4:100503162 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1668C>T (p.Asp556=) single nucleotide variant Abetalipoproteinaemia [RCV001827114]|not provided [RCV000982581] Chr4:99608876 [GRCh38]
Chr4:100530033 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.540T>A (p.Ala180=) single nucleotide variant not provided [RCV000928292] Chr4:99591273 [GRCh38]
Chr4:100512430 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=) single nucleotide variant Abetalipoproteinaemia [RCV001276109]|not provided [RCV000928899] Chr4:99619069 [GRCh38]
Chr4:100540226 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.606G>A (p.Thr202=) single nucleotide variant not provided [RCV000927888] Chr4:99591339 [GRCh38]
Chr4:100512496 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln) single nucleotide variant Abetalipoproteinaemia [RCV001276105]|Inborn genetic diseases [RCV004031364]|not provided [RCV001044596] Chr4:99611157 [GRCh38]
Chr4:100532314 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu) single nucleotide variant Abetalipoproteinaemia [RCV001827440]|not provided [RCV001067607] Chr4:99608772 [GRCh38]
Chr4:100529929 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.494_501+11del deletion not provided [RCV001067761] Chr4:99589742..99589760 [GRCh38]
Chr4:100510899..100510917 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr) single nucleotide variant Abetalipoproteinaemia [RCV001827244]|not provided [RCV001040757] Chr4:99594777 [GRCh38]
Chr4:100515934 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.858del (p.Ile287fs) deletion not provided [RCV001036760] Chr4:99594831 [GRCh38]
Chr4:100515988 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) single nucleotide variant Abetalipoproteinaemia [RCV000781607]|not provided [RCV000815577] Chr4:99583431 [GRCh38]
Chr4:100504588 [GRCh37]
Chr4:4q23		 pathogenic|likely pathogenic
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu) single nucleotide variant Abetalipoproteinaemia [RCV000770995]|not provided [RCV002533982] Chr4:99618993 [GRCh38]
Chr4:100540150 [GRCh37]
Chr4:4q23		 pathogenic|likely pathogenic|not provided
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His) single nucleotide variant Abetalipoproteinaemia [RCV000770996] Chr4:99601674 [GRCh38]
Chr4:100522831 [GRCh37]
Chr4:4q23		 pathogenic|not provided
NM_001386140.1(MTTP):c.1830G>A (p.Arg610=) single nucleotide variant not provided [RCV000942708] Chr4:99611203 [GRCh38]
Chr4:100532360 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) single nucleotide variant Abetalipoproteinaemia [RCV001276102]|MTTP-related disorder [RCV003932936]|not provided [RCV000908614] Chr4:99581938 [GRCh38]
Chr4:100503095 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.1135T>C (p.Leu379=) single nucleotide variant not provided [RCV000943072] Chr4:99600632 [GRCh38]
Chr4:100521789 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1868-6C>T single nucleotide variant Abetalipoproteinaemia [RCV001276106]|not provided [RCV000982785] Chr4:99611326 [GRCh38]
Chr4:100532483 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.1985G>C (p.Ser662Thr) single nucleotide variant Abetalipoproteinaemia [RCV001275668]|not provided [RCV000945001] Chr4:99611449 [GRCh38]
Chr4:100532606 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2259C>A (p.Val753=) single nucleotide variant not provided [RCV000942402] Chr4:99619015 [GRCh38]
Chr4:100540172 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.687T>C (p.Ala229=) single nucleotide variant not provided [RCV000981969] Chr4:99591719 [GRCh38]
Chr4:100512876 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2610C>A (p.Leu870=) single nucleotide variant not provided [RCV000978574] Chr4:99622773 [GRCh38]
Chr4:100543930 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2526A>G (p.Lys842=) single nucleotide variant not provided [RCV000941184] Chr4:99622689 [GRCh38]
Chr4:100543846 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.591G>A (p.Ala197=) single nucleotide variant not provided [RCV000928908] Chr4:99591324 [GRCh38]
Chr4:100512481 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=) single nucleotide variant Abetalipoproteinaemia [RCV001276108]|not provided [RCV000941290] Chr4:99613113 [GRCh38]
Chr4:100534270 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.1867+1G>A single nucleotide variant Abetalipoproteinaemia [RCV001532971]|Abetalipoproteinaemia [RCV002501036]|not provided [RCV000791633] Chr4:99611241 [GRCh38]
Chr4:100532398 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1868-2A>G single nucleotide variant Abetalipoproteinaemia [RCV001275667]|MTTP-related disorder [RCV003392605]|not provided [RCV000801014] Chr4:99611330 [GRCh38]
Chr4:100532487 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.*668A>G single nucleotide variant Abetalipoproteinaemia [RCV001149488] Chr4:99623516 [GRCh38]
Chr4:100544673 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser) single nucleotide variant Abetalipoproteinaemia [RCV001147854] Chr4:99600633 [GRCh38]
Chr4:100521790 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*474T>C single nucleotide variant Abetalipoproteinaemia [RCV001147950] Chr4:99623322 [GRCh38]
Chr4:100544479 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*796C>T single nucleotide variant Abetalipoproteinaemia [RCV001149489] Chr4:99623644 [GRCh38]
Chr4:100544801 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met) single nucleotide variant Abetalipoproteinaemia [RCV001147755]|Inborn genetic diseases [RCV002559417]|not provided [RCV002032376] Chr4:99581953 [GRCh38]
Chr4:100503110 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.393+11G>A single nucleotide variant Abetalipoproteinaemia [RCV001151099]|not provided [RCV001464504] Chr4:99583528 [GRCh38]
Chr4:100504685 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.2340T>C (p.Asn780=) single nucleotide variant Abetalipoproteinaemia [RCV001827093]|not provided [RCV000979553] Chr4:99619096 [GRCh38]
Chr4:100540253 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=) single nucleotide variant Abetalipoproteinaemia [RCV001276107]|not provided [RCV000940629] Chr4:99611357 [GRCh38]
Chr4:100532514 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.927G>A (p.Arg309=) single nucleotide variant Abetalipoproteinaemia [RCV001147852]|not provided [RCV003769709] Chr4:99597084 [GRCh38]
Chr4:100518241 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.*219G>A single nucleotide variant Abetalipoproteinaemia [RCV001147945] Chr4:99623067 [GRCh38]
Chr4:100544224 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2515C>T (p.Gln839Ter) single nucleotide variant not provided [RCV001061210] Chr4:99622678 [GRCh38]
Chr4:100543835 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.759G>A (p.Lys253=) single nucleotide variant Abetalipoproteinaemia [RCV001832554]|not provided [RCV001062180] Chr4:99594733 [GRCh38]
Chr4:100515890 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*826T>C single nucleotide variant Abetalipoproteinaemia [RCV001149490] Chr4:99623674 [GRCh38]
Chr4:100544831 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp) single nucleotide variant Abetalipoproteinaemia [RCV001146948]|not provided [RCV002557149] Chr4:99594765 [GRCh38]
Chr4:100515922 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*184G>A single nucleotide variant Abetalipoproteinaemia [RCV001147056] Chr4:99623032 [GRCh38]
Chr4:100544189 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr) single nucleotide variant Abetalipoproteinaemia [RCV001147754] Chr4:99574961 [GRCh38]
Chr4:100496118 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu) single nucleotide variant Abetalipoproteinaemia [RCV001147758]|not provided [RCV001248706] Chr4:99582002 [GRCh38]
Chr4:100503159 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4q23(chr4:100239111-100509321)x3 copy number gain not provided [RCV000847681] Chr4:100239111..100509321 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) single nucleotide variant Abetalipoproteinaemia [RCV001146949]|not provided [RCV000892865] Chr4:99597072 [GRCh38]
Chr4:100518229 [GRCh37]
Chr4:4q23		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386140.1(MTTP):c.756G>A (p.Ser252=) single nucleotide variant Abetalipoproteinaemia [RCV001144995]|not provided [RCV002070749] Chr4:99591788 [GRCh38]
Chr4:100512945 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.163G>A (p.Val55Met) single nucleotide variant Abetalipoproteinaemia [RCV001276104]|not provided [RCV001059997] Chr4:99582006 [GRCh38]
Chr4:100503163 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1522C>T (p.Leu508Phe) single nucleotide variant not provided [RCV001212515] Chr4:99606925 [GRCh38]
Chr4:100528082 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val) single nucleotide variant Abetalipoproteinaemia [RCV001830046]|Inborn genetic diseases [RCV004649544]|not provided [RCV001248618] Chr4:99581973 [GRCh38]
Chr4:100503130 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe) single nucleotide variant Abetalipoproteinaemia [RCV001834097]|Inborn genetic diseases [RCV002563948]|not provided [RCV001239614] Chr4:99594851 [GRCh38]
Chr4:100516008 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu) single nucleotide variant Abetalipoproteinaemia [RCV001835157]|not provided [RCV001243183] Chr4:99612968 [GRCh38]
Chr4:100534125 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.91G>A (p.Asp31Asn) single nucleotide variant Inborn genetic diseases [RCV002562597]|not provided [RCV001225331] Chr4:99581934 [GRCh38]
Chr4:100503091 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys) single nucleotide variant Abetalipoproteinaemia [RCV001828981]|not provided [RCV001241606] Chr4:99621231 [GRCh38]
Chr4:100542388 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly) single nucleotide variant Abetalipoproteinaemia [RCV001835132]|not provided [RCV001242576] Chr4:99621096 [GRCh38]
Chr4:100542253 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val) single nucleotide variant Abetalipoproteinaemia [RCV001836152]|not provided [RCV001210440] Chr4:99589701 [GRCh38]
Chr4:100510858 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*113G>C single nucleotide variant Abetalipoproteinaemia [RCV001147055]|not provided [RCV001545915] Chr4:99622961 [GRCh38]
Chr4:100544118 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.*468A>C single nucleotide variant Abetalipoproteinaemia [RCV001147949] Chr4:99623316 [GRCh38]
Chr4:100544473 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.75dup (p.Leu26fs) duplication Abetalipoproteinaemia [RCV003128080] Chr4:99581917..99581918 [GRCh38]
Chr4:100503074..100503075 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.249+23A>G single nucleotide variant not provided [RCV001569455] Chr4:99582115 [GRCh38]
Chr4:100503272 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2648C>A (p.Ala883Asp) single nucleotide variant not provided [RCV003107260] Chr4:99622811 [GRCh38]
Chr4:100543968 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1612A>G (p.Thr538Ala) single nucleotide variant Inborn genetic diseases [RCV003293129] Chr4:99608820 [GRCh38]
Chr4:100529977 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1345-77C>T single nucleotide variant not provided [RCV001588421] Chr4:99606671 [GRCh38]
Chr4:100527828 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1558-209C>T single nucleotide variant not provided [RCV001721924] Chr4:99608557 [GRCh38]
Chr4:100529714 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.62-240G>T single nucleotide variant not provided [RCV001721926] Chr4:99581665 [GRCh38]
Chr4:100502822 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1770-47A>T single nucleotide variant not provided [RCV001721933] Chr4:99611096 [GRCh38]
Chr4:100532253 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1068-108dup duplication not provided [RCV001555726] Chr4:99600447..99600448 [GRCh38]
Chr4:100521604..100521605 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2513+190A>G single nucleotide variant not provided [RCV001719177] Chr4:99621421 [GRCh38]
Chr4:100542578 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.2513+94A>G single nucleotide variant not provided [RCV001652846] Chr4:99621325 [GRCh38]
Chr4:100542482 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.2218-235T>C single nucleotide variant not provided [RCV001672168] Chr4:99618739 [GRCh38]
Chr4:99618739..99618740 [GRCh38]
Chr4:100539896 [GRCh37]
Chr4:100539896..100539897 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1990-97C>A single nucleotide variant not provided [RCV001552575] Chr4:99612816 [GRCh38]
Chr4:100533973 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr) single nucleotide variant Abetalipoproteinaemia [RCV001578673]|not provided [RCV002568509] Chr4:99581907 [GRCh38]
Chr4:100503064 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser) single nucleotide variant Abetalipoproteinaemia [RCV001578675]|not provided [RCV002569099] Chr4:99589700 [GRCh38]
Chr4:100510857 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) single nucleotide variant Abetalipoproteinaemia [RCV001147757]|not provided [RCV000889102] Chr4:99581967 [GRCh38]
Chr4:100503124 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) single nucleotide variant Abetalipoproteinaemia [RCV001147853]|not provided [RCV000910632] Chr4:99597129 [GRCh38]
Chr4:100518286 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.1345-10G>A single nucleotide variant not provided [RCV000932764] Chr4:99606738 [GRCh38]
Chr4:100527895 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1170G>A (p.Gln390=) single nucleotide variant not provided [RCV000980482] Chr4:99600667 [GRCh38]
Chr4:100521824 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2532C>T (p.Tyr844=) single nucleotide variant Abetalipoproteinaemia [RCV001276110]|not provided [RCV000978710] Chr4:99622695 [GRCh38]
Chr4:100543852 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2513+9C>T single nucleotide variant not provided [RCV000931323] Chr4:99621240 [GRCh38]
Chr4:100542397 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.759-5T>C single nucleotide variant not provided [RCV000906484] Chr4:99594728 [GRCh38]
Chr4:100515885 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1931G>A (p.Arg644Lys) single nucleotide variant not provided [RCV001238675] Chr4:99611395 [GRCh38]
Chr4:100532552 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*1018G>A single nucleotide variant Abetalipoproteinaemia [RCV001145204] Chr4:99623866 [GRCh38]
Chr4:100545023 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*434G>A single nucleotide variant Abetalipoproteinaemia [RCV001147947] Chr4:99623282 [GRCh38]
Chr4:100544439 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1392del (p.Glu465fs) deletion Abetalipoproteinaemia [RCV001260389]|not provided [RCV001227851] Chr4:99606795 [GRCh38]
Chr4:100527952 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1769+12T>C single nucleotide variant Abetalipoproteinaemia [RCV001149396]|not provided [RCV003679043] Chr4:99608989 [GRCh38]
Chr4:100530146 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.*515G>A single nucleotide variant Abetalipoproteinaemia [RCV001149486]|not provided [RCV003433040] Chr4:99623363 [GRCh38]
Chr4:100544520 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.1803C>A (p.Val601=) single nucleotide variant not provided [RCV000912133] Chr4:99611176 [GRCh38]
Chr4:100532333 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1149T>C (p.Ser383=) single nucleotide variant Abetalipoproteinaemia [RCV001827045]|MTTP-related disorder [RCV003943082]|not provided [RCV000957569] Chr4:99600646 [GRCh38]
Chr4:100521803 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2342+238A>G single nucleotide variant not provided [RCV001562452] Chr4:99619336 [GRCh38]
Chr4:100540493 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.*38G>A single nucleotide variant Abetalipoproteinaemia [RCV001578676] Chr4:99622886 [GRCh38]
Chr4:100544043 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met) single nucleotide variant Abetalipoproteinaemia [RCV002468545] Chr4:99612934 [GRCh38]
Chr4:100534091 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn) single nucleotide variant Abetalipoproteinaemia [RCV002468546] Chr4:99622826 [GRCh38]
Chr4:100543983 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2218-32T>G single nucleotide variant not provided [RCV001657404] Chr4:99618942 [GRCh38]
Chr4:100540099 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1867+36C>T single nucleotide variant not provided [RCV001576071] Chr4:99611276 [GRCh38]
Chr4:100532433 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2513+235T>C single nucleotide variant not provided [RCV001719298] Chr4:99621466 [GRCh38]
Chr4:100542623 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.394-32T>C single nucleotide variant not provided [RCV001615861] Chr4:99589611 [GRCh38]
Chr4:100510768 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1557+264C>T single nucleotide variant not provided [RCV001527989] Chr4:99607224 [GRCh38]
Chr4:100528381 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.61+136_61+137del deletion not provided [RCV001618874] Chr4:99575105..99575106 [GRCh38]
Chr4:100496262..100496263 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1989+192T>A single nucleotide variant not provided [RCV001663174] Chr4:99611645 [GRCh38]
Chr4:100532802 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.501+108G>A single nucleotide variant not provided [RCV001719176] Chr4:99589858 [GRCh38]
Chr4:100511015 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.394-250G>A single nucleotide variant not provided [RCV001721984] Chr4:99589393 [GRCh38]
Chr4:100510550 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1990-157C>T single nucleotide variant not provided [RCV001721985] Chr4:99612756 [GRCh38]
Chr4:100533913 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1068-85C>T single nucleotide variant not provided [RCV001721987] Chr4:99600480 [GRCh38]
Chr4:100521637 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1237-85G>A single nucleotide variant not provided [RCV001721989] Chr4:99601522 [GRCh38]
Chr4:100522679 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.2514-89A>G single nucleotide variant not provided [RCV001721934] Chr4:99622588 [GRCh38]
Chr4:100543745 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.502-42C>T single nucleotide variant not provided [RCV001721935] Chr4:99591193 [GRCh38]
Chr4:100512350 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1237-225T>G single nucleotide variant not provided [RCV001721986] Chr4:99601382 [GRCh38]
Chr4:100522539 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1067+102A>T single nucleotide variant not provided [RCV001721988] Chr4:99597326 [GRCh38]
Chr4:100518483 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.2343-51A>T single nucleotide variant not provided [RCV001721990] Chr4:99621010 [GRCh38]
Chr4:100542167 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.*1003T>C single nucleotide variant Abetalipoproteinaemia [RCV001145203] Chr4:99623851 [GRCh38]
Chr4:100545008 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1116_1125del (p.Leu372fs) deletion not provided [RCV001054632] Chr4:99600609..99600618 [GRCh38]
Chr4:100521766..100521775 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1237-172C>T single nucleotide variant not provided [RCV001683859] Chr4:99601435 [GRCh38]
Chr4:100522592 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1989+27T>C single nucleotide variant not provided [RCV001666954] Chr4:99611480 [GRCh38]
Chr4:100532637 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.759-116A>G single nucleotide variant not provided [RCV001680637] Chr4:99594617 [GRCh38]
Chr4:100515774 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.393+234G>A single nucleotide variant not provided [RCV001585548] Chr4:99583751 [GRCh38]
Chr4:100504908 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1557+48del deletion not provided [RCV001669942] Chr4:99606998 [GRCh38]
Chr4:100528155 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.2513+193del deletion not provided [RCV001648189] Chr4:99621416 [GRCh38]
Chr4:100542573 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1344+99C>T single nucleotide variant not provided [RCV001589891] Chr4:99601813 [GRCh38]
Chr4:100522970 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu) single nucleotide variant Abetalipoproteinaemia [RCV001276103]|not provided [RCV001064336] Chr4:99581989 [GRCh38]
Chr4:100503146 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1237-219_1237-134del deletion not provided [RCV001669565] Chr4:99601386..99601471 [GRCh38]
Chr4:100522543..100522628 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.250-90T>C single nucleotide variant not provided [RCV001671732] Chr4:99583284 [GRCh38]
Chr4:99583284..99583285 [GRCh38]
Chr4:100504441 [GRCh37]
Chr4:100504441..100504442 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.502-12C>T single nucleotide variant Abetalipoproteinaemia [RCV001144994]|not provided [RCV002070748] Chr4:99591223 [GRCh38]
Chr4:100512380 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) single nucleotide variant Abetalipoproteinaemia [RCV001145102]|not provided [RCV001858952] Chr4:99619076 [GRCh38]
Chr4:100540233 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.502-254C>T single nucleotide variant not provided [RCV001690835] Chr4:99590981 [GRCh38]
Chr4:100512138 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile) single nucleotide variant Abetalipoproteinaemia [RCV001578674] Chr4:99608860 [GRCh38]
Chr4:100530017 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1557+48dup duplication not provided [RCV001707038] Chr4:99606997..99606998 [GRCh38]
Chr4:100528154..100528155 [GRCh37]
Chr4:4q23		 benign
NC_000004.12:g.(?_99618964)_(99622858_?)del deletion not provided [RCV001033227] Chr4:100540121..100544015 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1982G>A (p.Gly661Asp) single nucleotide variant not provided [RCV001042784] Chr4:99611446 [GRCh38]
Chr4:100532603 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.173G>A (p.Arg58His) single nucleotide variant Abetalipoproteinaemia [RCV001833669]|Inborn genetic diseases [RCV002555897]|not provided [RCV001070687] Chr4:99582016 [GRCh38]
Chr4:100503173 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.580T>C (p.Cys194Arg) single nucleotide variant not provided [RCV001035031] Chr4:99591313 [GRCh38]
Chr4:100512470 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg) single nucleotide variant Abetalipoproteinaemia [RCV001275664]|not provided [RCV001044825] Chr4:99591269 [GRCh38]
Chr4:100512426 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys) single nucleotide variant Abetalipoproteinaemia [RCV001275669]|not provided [RCV001044914] Chr4:99613067 [GRCh38]
Chr4:100534224 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.-20G>A single nucleotide variant Abetalipoproteinaemia [RCV001146855] Chr4:99574890 [GRCh38]
Chr4:100496047 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2033C>A (p.Thr678Asn) single nucleotide variant not provided [RCV001037842] Chr4:99612956 [GRCh38]
Chr4:100534113 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.*267A>C single nucleotide variant Abetalipoproteinaemia [RCV001147946]|not provided [RCV001586006] Chr4:99623115 [GRCh38]
Chr4:100544272 [GRCh37]
Chr4:4q23		 benign|likely benign
NM_001386140.1(MTTP):c.1204C>T (p.His402Tyr) single nucleotide variant not provided [RCV001204437] Chr4:99600701 [GRCh38]
Chr4:100521858 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) single nucleotide variant Abetalipoproteinaemia [RCV001833797]|MTTP-related disorder [RCV003898195]|not provided [RCV001204439] Chr4:99611338 [GRCh38]
Chr4:100532495 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr) single nucleotide variant Abetalipoproteinaemia [RCV001145101]|not provided [RCV002557106] Chr4:99613118 [GRCh38]
Chr4:100534275 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.436G>T (p.Glu146Ter) single nucleotide variant not provided [RCV001090876] Chr4:99589685 [GRCh38]
Chr4:100510842 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.*588A>G single nucleotide variant Abetalipoproteinaemia [RCV001149487] Chr4:99623436 [GRCh38]
Chr4:100544593 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter) single nucleotide variant Abetalipoproteinaemia [RCV003142191]|not provided [RCV001229404] Chr4:99619085 [GRCh38]
Chr4:100540242 [GRCh37]
Chr4:4q23		 pathogenic|likely pathogenic
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) single nucleotide variant Abetalipoproteinaemia [RCV001275665]|not provided [RCV001042370] Chr4:99608826 [GRCh38]
Chr4:100529983 [GRCh37]
Chr4:4q23		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val) single nucleotide variant Abetalipoproteinaemia [RCV001835256]|not provided [RCV001246025] Chr4:99622792 [GRCh38]
Chr4:100543949 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1 copy number loss not provided [RCV001259285] Chr4:94692345..101308220 [GRCh37]
Chr4:4q22.2-24		 likely pathogenic
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263695] Chr4:99594749 [GRCh38]
Chr4:100515906 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263696] Chr4:99594877 [GRCh38]
Chr4:100516034 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263697] Chr4:99597224 [GRCh38]
Chr4:100518381 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263698] Chr4:99600596 [GRCh38]
Chr4:100521753 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263699] Chr4:99600614 [GRCh38]
Chr4:100521771 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263700] Chr4:99601691 [GRCh38]
Chr4:100522848 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263701] Chr4:99601697 [GRCh38]
Chr4:100522854 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263702] Chr4:99606770 [GRCh38]
Chr4:100527927 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263776] Chr4:99608925 [GRCh38]
Chr4:100530082 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263778] Chr4:99612944 [GRCh38]
Chr4:100534101 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263779] Chr4:99613048 [GRCh38]
Chr4:100534205 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263780] Chr4:99619016 [GRCh38]
Chr4:100540173 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263775] Chr4:99608913 [GRCh38]
Chr4:100530070 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter) single nucleotide variant Abetalipoproteinaemia [RCV001263777] Chr4:99611423 [GRCh38]
Chr4:100532580 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter) single nucleotide variant Abetalipoproteinaemia [RCV001264268] Chr4:99583482 [GRCh38]
Chr4:100504639 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter) single nucleotide variant Abetalipoproteinaemia [RCV001264269]|not provided [RCV003770376] Chr4:99589649 [GRCh38]
Chr4:100510806 [GRCh37]
Chr4:4q23		 pathogenic|likely pathogenic
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter) single nucleotide variant Abetalipoproteinaemia [RCV001264270] Chr4:99591316 [GRCh38]
Chr4:100512473 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.265G>A (p.Val89Ile) single nucleotide variant not provided [RCV001302829] Chr4:99583389 [GRCh38]
Chr4:100504546 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter) single nucleotide variant Abetalipoproteinaemia [RCV001329127] Chr4:99622741 [GRCh38]
Chr4:100543898 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.2141T>C (p.Met714Thr) single nucleotide variant not provided [RCV001317278] Chr4:99613064 [GRCh38]
Chr4:100534221 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) single nucleotide variant Abetalipoproteinaemia [RCV001830333]|Abetalipoproteinaemia [RCV002486270]|not provided [RCV001319993] Chr4:99608844 [GRCh38]
Chr4:100530001 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.207G>A (p.Trp69Ter) single nucleotide variant Abetalipoproteinaemia [RCV001333311] Chr4:99582050 [GRCh38]
Chr4:100503207 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1765G>A (p.Ala589Thr) single nucleotide variant not provided [RCV001325751] Chr4:99608973 [GRCh38]
Chr4:100530130 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr) single nucleotide variant Abetalipoproteinaemia [RCV001825894]|not provided [RCV001343527] Chr4:99601656 [GRCh38]
Chr4:100522813 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.393+5A>G single nucleotide variant Abetalipoproteinaemia [RCV001329128]|not provided [RCV004692522] Chr4:99583522 [GRCh38]
Chr4:100504679 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.502-2A>G single nucleotide variant Abetalipoproteinaemia [RCV001329129]|not provided [RCV002546305] Chr4:99591233 [GRCh38]
Chr4:100512390 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.96G>A (p.Arg32=) single nucleotide variant not provided [RCV001392804] Chr4:99581939 [GRCh38]
Chr4:100503096 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.290del (p.Gly97fs) deletion not provided [RCV001383325] Chr4:99583413 [GRCh38]
Chr4:100504570 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1558-19T>C single nucleotide variant not provided [RCV001422224] Chr4:99608747 [GRCh38]
Chr4:100529904 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.625G>A (p.Gly209Ser) single nucleotide variant not provided [RCV001338034] Chr4:99591657 [GRCh38]
Chr4:100512814 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1443G>A (p.Leu481=) single nucleotide variant not provided [RCV001422651] Chr4:99606846 [GRCh38]
Chr4:100528003 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.168C>T (p.Gly56=) single nucleotide variant not provided [RCV001396792] Chr4:99582011 [GRCh38]
Chr4:100503168 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile) single nucleotide variant Abetalipoproteinaemia [RCV001825988]|not provided [RCV001359011] Chr4:99621066 [GRCh38]
Chr4:100542223 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr) single nucleotide variant Abetalipoproteinaemia [RCV001277711]|Inborn genetic diseases [RCV003284134]|not provided [RCV002542880] Chr4:99608937 [GRCh38]
Chr4:100530094 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1017G>A (p.Ala339=) single nucleotide variant not provided [RCV001433277] Chr4:99597174 [GRCh38]
Chr4:100518331 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1599A>G (p.Lys533=) single nucleotide variant not provided [RCV001415325] Chr4:99608807 [GRCh38]
Chr4:100529964 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.393+7G>C single nucleotide variant not provided [RCV001397307] Chr4:99583524 [GRCh38]
Chr4:100504681 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.664A>G (p.Ile222Val) single nucleotide variant not provided [RCV001326236] Chr4:99591696 [GRCh38]
Chr4:100512853 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) single nucleotide variant Abetalipoproteinaemia [RCV001825875]|not provided [RCV001341986] Chr4:99601695 [GRCh38]
Chr4:100522852 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser) single nucleotide variant Abetalipoproteinaemia [RCV001831235]|not provided [RCV001362792] Chr4:99606943 [GRCh38]
Chr4:100528100 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His) single nucleotide variant Abetalipoproteinaemia [RCV001830167]|not provided [RCV001300025] Chr4:99619071 [GRCh38]
Chr4:100540228 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.236T>G (p.Leu79Trp) single nucleotide variant not provided [RCV001362851] Chr4:99582079 [GRCh38]
Chr4:100503236 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.249G>A (p.Thr83=) single nucleotide variant not provided [RCV001362892] Chr4:99582092 [GRCh38]
Chr4:100503249 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met) single nucleotide variant Abetalipoproteinaemia [RCV001830985]|not provided [RCV001323990] Chr4:99591291 [GRCh38]
Chr4:100512448 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met) single nucleotide variant Abetalipoproteinaemia [RCV001830970]|not provided [RCV001321949] Chr4:99594828 [GRCh38]
Chr4:100515985 [GRCh37]
Chr4:4q23		 uncertain significance
NC_000004.11:g.(?_100532469)_(100544005_?)dup duplication not provided [RCV001372099] Chr4:100532469..100544005 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.543T>G (p.His181Gln) single nucleotide variant Abetalipoproteinaemia [RCV001826119]|not provided [RCV001374183] Chr4:99591276 [GRCh38]
Chr4:100512433 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr) single nucleotide variant Abetalipoproteinaemia [RCV001835598]|not provided [RCV001319515] Chr4:99583456 [GRCh38]
Chr4:100504613 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1258G>T (p.Gly420Cys) single nucleotide variant not provided [RCV001306926] Chr4:99601628 [GRCh38]
Chr4:100522785 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.582C>T (p.Cys194=) single nucleotide variant not provided [RCV001412376] Chr4:99591315 [GRCh38]
Chr4:100512472 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2191C>G (p.Leu731Val) single nucleotide variant not provided [RCV001340575] Chr4:99613114 [GRCh38]
Chr4:100534271 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val) single nucleotide variant Abetalipoproteinaemia [RCV001277709]|not provided [RCV002541664] Chr4:99574943 [GRCh38]
Chr4:100496100 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro) single nucleotide variant Abetalipoproteinaemia [RCV001277710] Chr4:99589679 [GRCh38]
Chr4:100510836 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys) single nucleotide variant Abetalipoproteinaemia [RCV001277712]|Inborn genetic diseases [RCV004649550]|not provided [RCV001880236] Chr4:99611340 [GRCh38]
Chr4:100532497 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn) single nucleotide variant Abetalipoproteinaemia [RCV001277715]|not provided [RCV001345532] Chr4:99622829 [GRCh38]
Chr4:100543986 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.766T>C (p.Leu256=) single nucleotide variant not provided [RCV001493739] Chr4:99594740 [GRCh38]
Chr4:100515897 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg) single nucleotide variant Abetalipoproteinaemia [RCV001831260]|not provided [RCV001365641] Chr4:99612929 [GRCh38]
Chr4:100534086 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu) single nucleotide variant Abetalipoproteinaemia [RCV001830156]|not provided [RCV001299014] Chr4:99611415 [GRCh38]
Chr4:100532572 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1989G>T (p.Gln663His) single nucleotide variant not provided [RCV001365881] Chr4:99611453 [GRCh38]
Chr4:100532610 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.967G>A (p.Ala323Thr) single nucleotide variant not provided [RCV001366002] Chr4:99597124 [GRCh38]
Chr4:100518281 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1032C>A (p.Ile344=) single nucleotide variant not provided [RCV001490199] Chr4:99597189 [GRCh38]
Chr4:100518346 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.414T>C (p.Tyr138=) single nucleotide variant not provided [RCV001499042] Chr4:99589663 [GRCh38]
Chr4:100510820 [GRCh37]
Chr4:4q23		 likely benign
NC_000004.12:g.99574331G>T single nucleotide variant not provided [RCV001519435] Chr4:99574331 [GRCh38]
Chr4:100495488 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.705A>T (p.Thr235=) single nucleotide variant not provided [RCV001505521] Chr4:99591737 [GRCh38]
Chr4:100512894 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1038A>G (p.Gln346=) single nucleotide variant not provided [RCV001438269] Chr4:99597195 [GRCh38]
Chr4:100518352 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1407C>T (p.Asp469=) single nucleotide variant Abetalipoproteinaemia [RCV001826277]|not provided [RCV001453490] Chr4:99606810 [GRCh38]
Chr4:100527967 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1167C>G (p.Leu389=) single nucleotide variant not provided [RCV001485486] Chr4:99600664 [GRCh38]
Chr4:100521821 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1770-16T>C single nucleotide variant not provided [RCV001495379] Chr4:99611127 [GRCh38]
Chr4:100532284 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.502-7T>C single nucleotide variant not provided [RCV001485784] Chr4:99591228 [GRCh38]
Chr4:100512385 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1305T>C (p.Leu435=) single nucleotide variant not provided [RCV001458429] Chr4:99601675 [GRCh38]
Chr4:100522832 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1680C>T (p.Ile560=) single nucleotide variant not provided [RCV001451289] Chr4:99608888 [GRCh38]
Chr4:100530045 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.783C>T (p.Thr261=) single nucleotide variant not provided [RCV001430619] Chr4:99594757 [GRCh38]
Chr4:100515914 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1551T>C (p.Thr517=) single nucleotide variant not provided [RCV001430753] Chr4:99606954 [GRCh38]
Chr4:100528111 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2469A>T (p.Pro823=) single nucleotide variant not provided [RCV001499128] Chr4:99621187 [GRCh38]
Chr4:100542344 [GRCh37]
Chr4:4q23		 likely benign
NC_000004.11:g.(?_100527895)_(100542398_?)dup duplication not provided [RCV001378667] Chr4:100527895..100542398 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1989+12C>G single nucleotide variant not provided [RCV001492824] Chr4:99611465 [GRCh38]
Chr4:100532622 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1068-5dup duplication not provided [RCV001522051] Chr4:99600553..99600554 [GRCh38]
Chr4:100521710..100521711 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.564T>C (p.Ile188=) single nucleotide variant not provided [RCV001491627] Chr4:99591297 [GRCh38]
Chr4:100512454 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2409C>G (p.Thr803=) single nucleotide variant not provided [RCV001483961] Chr4:99621127 [GRCh38]
Chr4:100542284 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.717A>G (p.Gly239=) single nucleotide variant not provided [RCV001491756] Chr4:99591749 [GRCh38]
Chr4:100512906 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2232A>G (p.Gln744=) single nucleotide variant not provided [RCV001453454] Chr4:99618988 [GRCh38]
Chr4:100540145 [GRCh37]
Chr4:4q23		 likely benign
NC_000004.11:g.(?_100522557)_100534157del deletion not provided [RCV001381599]   pathogenic
NM_001386140.1(MTTP):c.645A>G (p.Thr215=) single nucleotide variant not provided [RCV001486004] Chr4:99591677 [GRCh38]
Chr4:100512834 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1867+19G>A single nucleotide variant not provided [RCV001491894] Chr4:99611259 [GRCh38]
Chr4:100532416 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.855G>A (p.Thr285=) single nucleotide variant not provided [RCV001467379] Chr4:99594829 [GRCh38]
Chr4:100515986 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1803C>T (p.Val601=) single nucleotide variant not provided [RCV001484900] Chr4:99611176 [GRCh38]
Chr4:100532333 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1440C>T (p.Ala480=) single nucleotide variant not provided [RCV001492054] Chr4:99606843 [GRCh38]
Chr4:100528000 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.297G>A (p.Lys99=) single nucleotide variant not provided [RCV001406769] Chr4:99583421 [GRCh38]
Chr4:100504578 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.216T>G (p.Pro72=) single nucleotide variant not provided [RCV001432438] Chr4:99582059 [GRCh38]
Chr4:100503216 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2280T>C (p.Asp760=) single nucleotide variant not provided [RCV001430293] Chr4:99619036 [GRCh38]
Chr4:100540193 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.393+7G>A single nucleotide variant not provided [RCV001441132] Chr4:99583524 [GRCh38]
Chr4:100504681 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.369G>A (p.Thr123=) single nucleotide variant not provided [RCV001409637] Chr4:99583493 [GRCh38]
Chr4:100504650 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.558C>A (p.Ile186=) single nucleotide variant not provided [RCV001402185] Chr4:99591291 [GRCh38]
Chr4:100512448 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.759-8T>C single nucleotide variant not provided [RCV001434327] Chr4:99594725 [GRCh38]
Chr4:100515882 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.291A>C (p.Gly97=) single nucleotide variant not provided [RCV001425043] Chr4:99583415 [GRCh38]
Chr4:100504572 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1352_1355del (p.Val451fs) deletion not provided [RCV001380876] Chr4:99606755..99606758 [GRCh38]
Chr4:100527912..100527915 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1233C>T (p.Leu411=) single nucleotide variant Abetalipoproteinaemia [RCV001578627]|not provided [RCV001441897] Chr4:99600730 [GRCh38]
Chr4:100521887 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1067+19G>A single nucleotide variant not provided [RCV001418974] Chr4:99597243 [GRCh38]
Chr4:100518400 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2265T>G (p.Gly755=) single nucleotide variant not provided [RCV001428063] Chr4:99619021 [GRCh38]
Chr4:100540178 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.501+8C>T single nucleotide variant Abetalipoproteinaemia [RCV003227976]|not provided [RCV001441923] Chr4:99589758 [GRCh38]
Chr4:100510915 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.810A>G (p.Gly270=) single nucleotide variant not provided [RCV001447255] Chr4:99594784 [GRCh38]
Chr4:100515941 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.378T>C (p.His126=) single nucleotide variant not provided [RCV001426840] Chr4:99583502 [GRCh38]
Chr4:100504659 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.99G>A (p.Leu33=) single nucleotide variant not provided [RCV001434217] Chr4:99581942 [GRCh38]
Chr4:100503099 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.151C>T (p.Leu51=) single nucleotide variant not provided [RCV001392975] Chr4:99581994 [GRCh38]
Chr4:100503151 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1222C>T (p.Leu408=) single nucleotide variant not provided [RCV001405860] Chr4:99600719 [GRCh38]
Chr4:100521876 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1867+10C>T single nucleotide variant not provided [RCV001408358] Chr4:99611250 [GRCh38]
Chr4:100532407 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1067+1G>C single nucleotide variant not provided [RCV001377084] Chr4:99597225 [GRCh38]
Chr4:100518382 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.393+10C>A single nucleotide variant not provided [RCV001399909] Chr4:99583527 [GRCh38]
Chr4:100504684 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1587C>T (p.His529=) single nucleotide variant not provided [RCV001410621] Chr4:99608795 [GRCh38]
Chr4:100529952 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.267T>C (p.Val89=) single nucleotide variant not provided [RCV001428910] Chr4:99583391 [GRCh38]
Chr4:100504548 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.228T>C (p.Asp76=) single nucleotide variant not provided [RCV001429017] Chr4:99582071 [GRCh38]
Chr4:100503228 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1949del (p.Ile650fs) deletion Abetalipoproteinaemia [RCV002469388]|not provided [RCV001380632] Chr4:99611413 [GRCh38]
Chr4:100532570 [GRCh37]
Chr4:4q23		 pathogenic|likely pathogenic
NM_001386140.1(MTTP):c.468T>C (p.Phe156=) single nucleotide variant not provided [RCV001445423] Chr4:99589717 [GRCh38]
Chr4:100510874 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.609C>T (p.Thr203=) single nucleotide variant not provided [RCV001401618] Chr4:99591342 [GRCh38]
Chr4:100512499 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.373del (p.Leu125fs) deletion not provided [RCV001386899] Chr4:99583496 [GRCh38]
Chr4:100504653 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1473G>A (p.Lys491=) single nucleotide variant not provided [RCV001408518] Chr4:99606876 [GRCh38]
Chr4:100528033 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2541G>A (p.Leu847=) single nucleotide variant not provided [RCV001416412] Chr4:99622704 [GRCh38]
Chr4:100543861 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) duplication Abetalipoproteinaemia [RCV001831391]|MTTP-related disorder [RCV003405634]|not provided [RCV001385678] Chr4:99589664..99589665 [GRCh38]
Chr4:100510821..100510822 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1728C>T (p.Leu576=) single nucleotide variant not provided [RCV001406201] Chr4:99608936 [GRCh38]
Chr4:100530093 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.900A>G (p.Gly300=) single nucleotide variant not provided [RCV001440465] Chr4:99594874 [GRCh38]
Chr4:100516031 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2514-6G>A single nucleotide variant not provided [RCV001445573] Chr4:99622671 [GRCh38]
Chr4:100543828 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.258T>C (p.Asp86=) single nucleotide variant not provided [RCV001406287] Chr4:99583382 [GRCh38]
Chr4:100504539 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.909+7G>T single nucleotide variant not provided [RCV001448193] Chr4:99594890 [GRCh38]
Chr4:100516047 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1839T>C (p.Ser613=) single nucleotide variant MTTP-related disorder [RCV003965846]|not provided [RCV001438296] Chr4:99611212 [GRCh38]
Chr4:100532369 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.141del (p.Gly49fs) deletion Abetalipoproteinaemia [RCV002499810]|not provided [RCV001389022] Chr4:99581984 [GRCh38]
Chr4:100503141 [GRCh37]
Chr4:4q23		 pathogenic|likely pathogenic
NM_001386140.1(MTTP):c.1605T>C (p.His535=) single nucleotide variant MTTP-related disorder [RCV003966040]|not provided [RCV001505220] Chr4:99608813 [GRCh38]
Chr4:100529970 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2583C>T (p.Ser861=) single nucleotide variant not provided [RCV001472445] Chr4:99622746 [GRCh38]
Chr4:100543903 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1557+191_1557+196del microsatellite not provided [RCV001539919] Chr4:99607144..99607149 [GRCh38]
Chr4:100528301..100528306 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.758+201A>T single nucleotide variant not provided [RCV001587787] Chr4:99591991 [GRCh38]
Chr4:100513148 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2218-9T>C single nucleotide variant not provided [RCV001457793] Chr4:99618965 [GRCh38]
Chr4:100540122 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1388A>C (p.Lys463Thr) single nucleotide variant Inborn genetic diseases [RCV003161036]|not provided [RCV001508154] Chr4:99606791 [GRCh38]
Chr4:100527948 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1990-29G>A single nucleotide variant not provided [RCV001673570] Chr4:99612884 [GRCh38]
Chr4:100534041 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.489A>G (p.Gly163=) single nucleotide variant not provided [RCV001495956] Chr4:99589738 [GRCh38]
Chr4:100510895 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1185T>C (p.Tyr395=) single nucleotide variant not provided [RCV001486456] Chr4:99600682 [GRCh38]
Chr4:100521839 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.61+9G>T single nucleotide variant not provided [RCV001476249] Chr4:99574979 [GRCh38]
Chr4:100496136 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2217+185A>T single nucleotide variant not provided [RCV001619477] Chr4:99613325 [GRCh38]
Chr4:100534482 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.2040C>T (p.Asp680=) single nucleotide variant not provided [RCV001462701] Chr4:99612963 [GRCh38]
Chr4:100534120 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2352G>T (p.Val784=) single nucleotide variant not provided [RCV001458946] Chr4:99621070 [GRCh38]
Chr4:100542227 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1938T>C (p.Ser646=) single nucleotide variant not provided [RCV001459340] Chr4:99611402 [GRCh38]
Chr4:100532559 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1557+47_1557+48dup duplication not provided [RCV001617386] Chr4:99606997..99606998 [GRCh38]
Chr4:100528154..100528155 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.758+81TG[7] microsatellite not provided [RCV001613533] Chr4:99591871..99591874 [GRCh38]
Chr4:100513028..100513031 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.789A>G (p.Ala263=) single nucleotide variant not provided [RCV001453160] Chr4:99594763 [GRCh38]
Chr4:100515920 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2431T>C (p.Leu811=) single nucleotide variant not provided [RCV001477491] Chr4:99621149 [GRCh38]
Chr4:100542306 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2217+257T>G single nucleotide variant not provided [RCV001687808] Chr4:99613397 [GRCh38]
Chr4:100534554 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.618+7T>C single nucleotide variant not provided [RCV001477844] Chr4:99591358 [GRCh38]
Chr4:100512515 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.393+10C>T single nucleotide variant not provided [RCV001453419] Chr4:99583527 [GRCh38]
Chr4:100504684 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1911C>T (p.Tyr637=) single nucleotide variant not provided [RCV001501115] Chr4:99611375 [GRCh38]
Chr4:100532532 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2124C>T (p.Asn708=) single nucleotide variant not provided [RCV001481192] Chr4:99613047 [GRCh38]
Chr4:100534204 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.758+10T>C single nucleotide variant not provided [RCV001457014] Chr4:99591800 [GRCh38]
Chr4:100512957 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1437T>C (p.Asn479=) single nucleotide variant not provided [RCV001458079] Chr4:99606840 [GRCh38]
Chr4:100527997 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2160A>G (p.Ala720=) single nucleotide variant not provided [RCV001506435] Chr4:99613083 [GRCh38]
Chr4:100534240 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.394-4C>T single nucleotide variant not provided [RCV001472938] Chr4:99589639 [GRCh38]
Chr4:100510796 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1275A>G (p.Arg425=) single nucleotide variant not provided [RCV001465524] Chr4:99601645 [GRCh38]
Chr4:100522802 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2073T>C (p.Gly691=) single nucleotide variant not provided [RCV001495467] Chr4:99612996 [GRCh38]
Chr4:100534153 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.394-8C>G single nucleotide variant not provided [RCV001495904] Chr4:99589635 [GRCh38]
Chr4:100510792 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.963C>T (p.Ser321=) single nucleotide variant not provided [RCV001497798] Chr4:99597120 [GRCh38]
Chr4:100518277 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.483C>T (p.Ser161=) single nucleotide variant not provided [RCV001457009] Chr4:99589732 [GRCh38]
Chr4:100510889 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.216T>C (p.Pro72=) single nucleotide variant not provided [RCV001453650] Chr4:99582059 [GRCh38]
Chr4:100503216 [GRCh37]
Chr4:4q23		 likely benign
NC_000004.12:g.99574660T>C single nucleotide variant not provided [RCV001519437] Chr4:99574660 [GRCh38]
Chr4:100495817 [GRCh37]
Chr4:4q23		 benign
NM_001386140.1(MTTP):c.1344+8C>T single nucleotide variant not provided [RCV001500322] Chr4:99601722 [GRCh38]
Chr4:100522879 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1980C>T (p.His660=) single nucleotide variant not provided [RCV001471174] Chr4:99611444 [GRCh38]
Chr4:100532601 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1542T>G (p.Pro514=) single nucleotide variant not provided [RCV001471178] Chr4:99606945 [GRCh38]
Chr4:100528102 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1769+8A>G single nucleotide variant not provided [RCV001403981] Chr4:99608985 [GRCh38]
Chr4:100530142 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2055C>T (p.Asn685=) single nucleotide variant not provided [RCV001480322] Chr4:99612978 [GRCh38]
Chr4:100534135 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2121C>T (p.Phe707=) single nucleotide variant not provided [RCV001496507] Chr4:99613044 [GRCh38]
Chr4:100534201 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.502-20G>T single nucleotide variant not provided [RCV001458980] Chr4:99591215 [GRCh38]
Chr4:100512372 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1341C>T (p.Leu447=) single nucleotide variant not provided [RCV001505179] Chr4:99601711 [GRCh38]
Chr4:100522868 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.426A>C (p.Ala142=) single nucleotide variant not provided [RCV001438324] Chr4:99589675 [GRCh38]
Chr4:100510832 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2133T>C (p.Ser711=) single nucleotide variant not provided [RCV001466112] Chr4:99613056 [GRCh38]
Chr4:100534213 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2217+7C>A single nucleotide variant not provided [RCV001418061] Chr4:99613147 [GRCh38]
Chr4:100534304 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1104C>T (p.Thr368=) single nucleotide variant not provided [RCV001418175] Chr4:99600601 [GRCh38]
Chr4:100521758 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2442C>T (p.Ile814=) single nucleotide variant not provided [RCV001426289] Chr4:99621160 [GRCh38]
Chr4:100542317 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2218-2A>G single nucleotide variant not provided [RCV001385679] Chr4:99618972 [GRCh38]
Chr4:100540129 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.250-10G>C single nucleotide variant not provided [RCV001430234] Chr4:99583364 [GRCh38]
Chr4:100504521 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1236+7C>G single nucleotide variant not provided [RCV001496957] Chr4:99600740 [GRCh38]
Chr4:100521897 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.2274T>C (p.Ala758=) single nucleotide variant not provided [RCV001416336] Chr4:99619030 [GRCh38]
Chr4:100540187 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1770-8T>C single nucleotide variant not provided [RCV001416444] Chr4:99611135 [GRCh38]
Chr4:100532292 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1077G>C (p.Leu359=) single nucleotide variant not provided [RCV001468222] Chr4:99600574 [GRCh38]
Chr4:100521731 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1959C>T (p.Tyr653=) single nucleotide variant not provided [RCV001468305] Chr4:99611423 [GRCh38]
Chr4:100532580 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.640del (p.Ala214fs) deletion Abetalipoproteinaemia [RCV002251190] Chr4:99591672 [GRCh38]
Chr4:100512829 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1691T>C (p.Ile564Thr) single nucleotide variant not provided [RCV003093914]|not specified [RCV002238561] Chr4:99608899 [GRCh38]
Chr4:100530056 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1877G>A (p.Arg626His) single nucleotide variant not provided [RCV001730354] Chr4:99611341 [GRCh38]
Chr4:100532498 [GRCh37]
Chr4:4q23		 likely benign|uncertain significance
NM_001386140.1(MTTP):c.501+1G>A single nucleotide variant Abetalipoproteinaemia [RCV001784684] Chr4:99589751 [GRCh38]
Chr4:100510908 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1331_1332delinsAT (p.Gly444Asp) indel not provided [RCV001767996] Chr4:99601701..99601702 [GRCh38]
Chr4:100522858..100522859 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.501+62T>C single nucleotide variant not provided [RCV001800022] Chr4:99589812 [GRCh38]
Chr4:100510969 [GRCh37]
Chr4:4q23		 likely benign
NM_001386140.1(MTTP):c.1655C>T (p.Pro552Leu) single nucleotide variant not specified [RCV001797873] Chr4:99608863 [GRCh38]
Chr4:100530020 [GRCh37]
Chr4:4q23		 uncertain significance
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del deletion Abetalipoproteinaemia [RCV001779466] Chr4:100522763..100534298 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.619-1G>C single nucleotide variant not provided [RCV002003805] Chr4:99591650 [GRCh38]
Chr4:100512807 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.688G>A (p.Val230Met) single nucleotide variant not provided [RCV001895996] Chr4:99591720 [GRCh38]
Chr4:100512877 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.910-6T>C single nucleotide variant not provided [RCV001949861] Chr4:99597061 [GRCh38]
Chr4:100518218 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.787G>A (p.Ala263Thr) single nucleotide variant not provided [RCV001825285] Chr4:99594761 [GRCh38]
Chr4:100515918 [GRCh37]
Chr4:4q23		 not provided
NM_001386140.1(MTTP):c.934A>G (p.Arg312Gly) single nucleotide variant not provided [RCV002008918] Chr4:99597091 [GRCh38]
Chr4:100518248 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu) single nucleotide variant Abetalipoproteinaemia [RCV003228010]|not provided [RCV001864330] Chr4:99606794 [GRCh38]
Chr4:100527951 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1686_1689del (p.Ser563fs) deletion not provided [RCV001970145] Chr4:99608892..99608895 [GRCh38]
Chr4:100530049..100530052 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) single nucleotide variant Abetalipoproteinaemia [RCV002478225]|not provided [RCV001895491] Chr4:99606788 [GRCh38]
Chr4:100527945 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.781A>T (p.Thr261Ser) single nucleotide variant not provided [RCV002044829] Chr4:99594755 [GRCh38]
Chr4:100515912 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2026G>A (p.Ala676Thr) single nucleotide variant not provided [RCV001965658] Chr4:99612949 [GRCh38]
Chr4:100534106 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2357T>C (p.Ile786Thr) single nucleotide variant not provided [RCV002021826] Chr4:99621075 [GRCh38]
Chr4:100542232 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) single nucleotide variant Abetalipoproteinaemia [RCV002478219]|not provided [RCV001892343] Chr4:99594837 [GRCh38]
Chr4:100515994 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1739A>C (p.Gln580Pro) single nucleotide variant not provided [RCV001968700] Chr4:99608947 [GRCh38]
Chr4:100530104 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2335A>T (p.Lys779Ter) single nucleotide variant not provided [RCV001946726] Chr4:99619091 [GRCh38]
Chr4:100540248 [GRCh37]
Chr4:4q23		 pathogenic
NC_000004.11:g.(?_100510780)_(100528137_?)del deletion not provided [RCV002043033] Chr4:100510780..100528137 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.74G>A (p.Gly25Asp) single nucleotide variant not provided [RCV001911678]|not specified [RCV002271695] Chr4:99581917 [GRCh38]
Chr4:100503074 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2668T>C (p.Ser890Pro) single nucleotide variant not provided [RCV001964179] Chr4:99622831 [GRCh38]
Chr4:100543988 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25		 likely pathogenic
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp) single nucleotide variant Abetalipoproteinaemia [RCV001844377] Chr4:99622783 [GRCh38]
Chr4:100543940 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2661T>A (p.Asp887Glu) single nucleotide variant not provided [RCV001947341] Chr4:99622824 [GRCh38]
Chr4:100543981 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.563T>C (p.Ile188Thr) single nucleotide variant not provided [RCV002005348] Chr4:99591296 [GRCh38]
Chr4:100512453 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2141T>A (p.Met714Lys) single nucleotide variant not provided [RCV001872469] Chr4:99613064 [GRCh38]
Chr4:100534221 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.70A>G (p.Thr24Ala) single nucleotide variant not provided [RCV001912932] Chr4:99581913 [GRCh38]
Chr4:100503070 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.249+19A>G single nucleotide variant not provided [RCV001912972] Chr4:99582111 [GRCh38]
Chr4:100503268 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1697A>G (p.Glu566Gly) single nucleotide variant not provided [RCV001873072] Chr4:99608905 [GRCh38]
Chr4:100530062 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_001386140.1(MTTP):c.1913C>T (p.Ser638Leu) single nucleotide variant not provided [RCV001926584] Chr4:99611377 [GRCh38]
Chr4:100532534 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.431C>A (p.Ala144Asp) single nucleotide variant Inborn genetic diseases [RCV004041548]|not provided [RCV001927540] Chr4:99589680 [GRCh38]
Chr4:100510837 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1769G>A (p.Ser590Asn) single nucleotide variant not provided [RCV002042042] Chr4:99608977 [GRCh38]
Chr4:100530134 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1344+2T>C single nucleotide variant not provided [RCV002006294] Chr4:99601716 [GRCh38]
Chr4:100522873 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.2043G>T (p.Glu681Asp) single nucleotide variant not provided [RCV002020485] Chr4:99612966 [GRCh38]
Chr4:100534123 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.988del (p.Leu330fs) deletion not provided [RCV002004853] Chr4:99597144 [GRCh38]
Chr4:100518301 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.2156C>T (p.Ser719Leu) single nucleotide variant not provided [RCV001941137] Chr4:99613079 [GRCh38]
Chr4:100534236 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2343-2A>T single nucleotide variant not provided [RCV002038475] Chr4:99621059 [GRCh38]
Chr4:100542216 [GRCh37]
Chr4:4q23		 likely pathogenic
NM_001386140.1(MTTP):c.1815T>A (p.Tyr605Ter) single nucleotide variant not provided [RCV001923825] Chr4:99611188 [GRCh38]
Chr4:100532345 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.2369T>C (p.Ile790Thr) single nucleotide variant not provided [RCV001933873] Chr4:99621087 [GRCh38]
Chr4:100542244 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1123A>C (p.Ile375Leu) single nucleotide variant not provided [RCV001940297] Chr4:99600620 [GRCh38]
Chr4:100521777 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.534C>A (p.Tyr178Ter) single nucleotide variant not provided [RCV001962970] Chr4:99591267 [GRCh38]
Chr4:100512424 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.502-1G>C single nucleotide variant not provided [RCV002038571] Chr4:99591234 [GRCh38]
Chr4:100512391 [GRCh37]
Chr4:4q23		 likely pathogenic
NC_000004.11:g.(?_100470245)_(100521910_?)dup duplication not provided [RCV001943284] Chr4:100470245..100521910 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.167G>A (p.Gly56Asp) single nucleotide variant not provided [RCV001981100] Chr4:99582010 [GRCh38]
Chr4:100503167 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.421G>C (p.Glu141Gln) single nucleotide variant not provided [RCV001866525] Chr4:99589670 [GRCh38]
Chr4:100510827 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2611C>T (p.His871Tyr) single nucleotide variant not provided [RCV001923477] Chr4:99622774 [GRCh38]
Chr4:100543931 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1949_1950insA (p.Phe651fs) insertion not provided [RCV001958676] Chr4:99611413..99611414 [GRCh38]
Chr4:100532570..100532571 [GRCh37]
Chr4:4q23		 pathogenic
NM_001386140.1(MTTP):c.2606C>T (p.Pro869Leu) single nucleotide variant not provided [RCV001887895] Chr4:99622769 [GRCh38]
Chr4:100543926 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1882G>T (p.Ala628Ser) single nucleotide variant not provided [RCV002039201] Chr4:99611346 [GRCh38]
Chr4:100532503 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.1964G>T (p.Gly655Val) single nucleotide variant not provided [RCV002001046] Chr4:99611428 [GRCh38]
Chr4:100532585 [GRCh37]
Chr4:4q23		 uncertain significance
NM_001386140.1(MTTP):c.2577A>T (p.Lys859Asn) single nucleot