ABCG8 (ATP binding cassette subfamily G member 8) - Rat Genome Database

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Gene: ABCG8 (ATP binding cassette subfamily G member 8) Homo sapiens
Analyze
Symbol: ABCG8
Name: ATP binding cassette subfamily G member 8
RGD ID: 732770
HGNC Page HGNC
Description: Exhibits ATPase-coupled transmembrane transporter activity and protein heterodimerization activity. Contributes to ATP binding activity; ATPase activity; and cholesterol transfer activity. Involved in several processes, including cholesterol efflux; cholesterol homeostasis; and negative regulation of intestinal lipid absorption. Localizes to ATP-binding activity cassette (ABC) transporter complex; apical plasma membrane; and receptor complex. Implicated in arteriosclerosis; familial hyperlipidemia; gallbladder disease; obesity; and sitosterolemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP-binding cassette sub-family G member 8; ATP-binding cassette, sub-family G (WHITE), member 8; ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2); ATP-binding cassette, subfamily G, member 8; GBD4; MGC142217; sterolin 2; sterolin-2; STSL; STSL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl243,831,942 - 43,882,988 (+)EnsemblGRCh38hg38GRCh38
GRCh38243,831,942 - 43,882,988 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37244,066,110 - 44,110,127 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36243,919,607 - 43,959,109 (+)NCBINCBI36hg18NCBI36
Build 34243,977,753 - 44,017,255NCBI
Celera243,904,835 - 43,944,326 (+)NCBI
Cytogenetic Map2p21NCBI
HuRef243,802,799 - 43,841,930 (+)NCBIHuRef
CHM1_1243,995,502 - 44,035,021 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2,3-trilinolenoylglycerol  (ISO)
1,2,3-trilinoleoylglycerol  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
7-ketocholesterol  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitriptyline  (ISO)
ammonium chloride  (ISO)
androst-4-ene-3,17-dione  (EXP)
atorvastatin calcium  (ISO)
aztreonam  (ISO)
benzo[a]pyrene  (EXP)
beta-hexachlorocyclohexane  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bosentan  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP,ISO)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
cholate  (ISO)
cholesterol  (EXP,ISO)
cholic acid  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
cyclosporin A  (EXP)
DDE  (EXP)
dehydroepiandrosterone  (EXP)
deoxycholic acid  (ISO)
diosgenin  (ISO)
endosulfan  (EXP)
erythromycin estolate  (ISO)
fenofibrate  (ISO)
fipronil  (ISO)
fonofos  (EXP)
fumonisin B1  (ISO)
GW 3965  (ISO)
GW 4064  (ISO)
imipenem hydrate  (ISO)
indole-3-methanol  (ISO)
leflunomide  (EXP)
lithocholic acid  (ISO)
lovastatin  (ISO)
mercury dichloride  (ISO)
metformin  (ISO)
metronidazole  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rifampicin  (EXP)
rotenone  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium citrate  (ISO)
spironolactone  (ISO)
stigmasterol  (EXP)
streptozocin  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
toluene  (ISO)
triolein  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
zidovudine  (ISO)

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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal eye physiology  (IAGP)
Abnormal internal carotid artery morphology  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal nervous system physiology  (IAGP)
Abnormality of the liver  (IAGP)
Angina pectoris  (IAGP)
Aortic atherosclerotic lesion  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Calcification of the aorta  (IAGP)
Cerebral artery atherosclerosis  (IAGP)
Cholelithiasis  (IAGP)
Chronic hemolytic anemia  (IAGP)
Congenital hemolytic anemia  (IAGP)
Coronary artery aneurysm  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Dyspnea  (IAGP)
Elevated circulating sitosterol concentration  (IAGP)
Episodic hemolytic anemia  (IAGP)
Giant platelets  (IAGP)
Heart murmur  (IAGP)
Hepatic steatosis  (IAGP)
Hyperapobetalipoproteinemia  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperlipidemia  (IAGP)
Hypertension  (IAGP)
Impaired platelet aggregation  (IAGP)
Increased LDL cholesterol concentration  (IAGP)
Mitral regurgitation  (IAGP)
Myocardial infarction  (IAGP)
Myocardial steatosis  (IAGP)
Optic neuropathy  (IAGP)
Peripheral arterial stenosis  (IAGP)
Polygenic inheritance  (IAGP)
Precocious atherosclerosis  (IAGP)
Premature arteriosclerosis  (IAGP)
Premature coronary artery atherosclerosis  (IAGP)
Renal artery stenosis  (IAGP)
Renal steatosis  (IAGP)
Reticulocytosis  (IAGP)
Splenomegaly  (IAGP)
Stomatocytosis  (IAGP)
Sudden cardiac death  (IAGP)
Supravalvular aortic stenosis  (IAGP)
Tendon xanthomatosis  (IAGP)
Thrombocytopenia  (IAGP)
Tuberous xanthoma  (IAGP)
References

Additional References at PubMed
PMID:11590207   PMID:11668628   PMID:11893785   PMID:12111378   PMID:12124998   PMID:12150943   PMID:12208867   PMID:12208868   PMID:12220438   PMID:12477932   PMID:14504269   PMID:14703505  
PMID:15175352   PMID:15262185   PMID:15311998   PMID:15520451   PMID:15611112   PMID:15930516   PMID:16472606   PMID:16518588   PMID:16870176   PMID:16893193   PMID:16980816   PMID:17055487  
PMID:17098593   PMID:17102949   PMID:17403900   PMID:17612515   PMID:17626266   PMID:17632509   PMID:17690481   PMID:17827468   PMID:18007013   PMID:18457353   PMID:18522623   PMID:18581044  
PMID:18641716   PMID:18660489   PMID:18676680   PMID:18850127   PMID:18977479   PMID:19005228   PMID:19012522   PMID:19018975   PMID:19019257   PMID:19056482   PMID:19060906   PMID:19060911  
PMID:19111681   PMID:19170196   PMID:19217458   PMID:19270375   PMID:19306529   PMID:19343046   PMID:19692168   PMID:19692220   PMID:19878569   PMID:19936222   PMID:20163776   PMID:20170916  
PMID:20172523   PMID:20210363   PMID:20235787   PMID:20370913   PMID:20379614   PMID:20403997   PMID:20413122   PMID:20497293   PMID:20529992   PMID:20581104   PMID:20592455   PMID:20594224  
PMID:20679960   PMID:20686565   PMID:20837016   PMID:20854103   PMID:21039838   PMID:21062971   PMID:21274884   PMID:21873635   PMID:21988832   PMID:22378727   PMID:22548731   PMID:22655090  
PMID:22869156   PMID:22898925   PMID:23179156   PMID:23241408   PMID:23406058   PMID:23556150   PMID:23707316   PMID:23726366   PMID:23790976   PMID:23840693   PMID:24097068   PMID:24252657  
PMID:24584735   PMID:24657701   PMID:24691589   PMID:24811295   PMID:25056759   PMID:25804128   PMID:26088706   PMID:27144356   PMID:27981300   PMID:28514442   PMID:28521186   PMID:28739549  
PMID:29764733   PMID:30692554   PMID:31327807   PMID:31901240   PMID:32275988   PMID:32296183   PMID:32705597   PMID:33228147  


Genomics

Comparative Map Data
ABCG8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl243,831,942 - 43,882,988 (+)EnsemblGRCh38hg38GRCh38
GRCh38243,831,942 - 43,882,988 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37244,066,110 - 44,110,127 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36243,919,607 - 43,959,109 (+)NCBINCBI36hg18NCBI36
Build 34243,977,753 - 44,017,255NCBI
Celera243,904,835 - 43,944,326 (+)NCBI
Cytogenetic Map2p21NCBI
HuRef243,802,799 - 43,841,930 (+)NCBIHuRef
CHM1_1243,995,502 - 44,035,021 (+)NCBICHM1_1
Abcg8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391784,983,730 - 85,007,761 (+)NCBIGRCm39mm39
GRCm39 Ensembl1784,983,730 - 85,007,761 (+)Ensembl
GRCm381784,676,302 - 84,700,333 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1784,676,302 - 84,700,333 (+)EnsemblGRCm38mm10GRCm38
MGSCv371785,082,471 - 85,099,673 (+)NCBIGRCm37mm9NCBIm37
MGSCv361784,591,457 - 84,608,659 (+)NCBImm8
Celera1789,050,583 - 89,068,069 (+)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1755.02NCBI
Abcg8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.269,945,629 - 9,964,912 (-)NCBI
Rnor_6.0 Ensembl67,961,413 - 7,980,708 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.067,961,413 - 7,980,708 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.067,897,005 - 7,916,593 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.468,064,631 - 8,083,271 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.168,064,630 - 8,083,271 (+)NCBI
Celera69,667,270 - 9,686,500 (-)NCBICelera
Cytogenetic Map6q12NCBI
Abcg8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544110,982,307 - 11,009,116 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544110,982,307 - 11,004,789 (+)NCBIChiLan1.0ChiLan1.0
ABCG8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A44,771,247 - 44,905,375 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A44,771,247 - 44,904,830 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A43,922,787 - 43,966,678 (+)NCBIMhudiblu_PPA_v0panPan3
ABCG8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11046,300,142 - 46,319,592 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1046,300,165 - 46,319,229 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1046,161,869 - 46,181,385 (+)NCBI
ROS_Cfam_1.01047,178,745 - 47,198,241 (+)NCBI
UMICH_Zoey_3.11046,887,146 - 46,906,668 (+)NCBI
UNSW_CanFamBas_1.01047,176,806 - 47,196,259 (+)NCBI
UU_Cfam_GSD_1.01047,360,439 - 47,379,994 (+)NCBI
Abcg8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629236,645,685 - 36,664,967 (-)NCBI
SpeTri2.0NW_0049365088,074,697 - 8,093,424 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCG8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl396,594,778 - 96,616,229 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1396,596,975 - 96,616,224 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23102,751,981 - 102,768,385 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCG8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11463,389,817 - 63,420,048 (-)NCBI
ChlSab1.1 Ensembl1463,390,433 - 63,413,906 (-)Ensembl
Abcg8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473825,310,740 - 25,330,097 (+)NCBI

Position Markers
D2S119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,073,996 - 44,074,219UniSTSGRCh37
GRCh37244,074,047 - 44,074,204UniSTSGRCh37
Build 36243,927,551 - 43,927,708RGDNCBI36
Celera243,912,770 - 43,912,923RGD
Celera243,912,719 - 43,912,938UniSTS
Cytogenetic Map2p21UniSTS
HuRef243,810,739 - 43,810,886UniSTS
HuRef243,810,688 - 43,810,901UniSTS
Marshfield Genetic Map265.39RGD
Genethon Genetic Map269.0UniSTS
TNG Radiation Hybrid Map231303.0UniSTS
deCODE Assembly Map268.55UniSTS
Stanford-G3 RH Map21807.0UniSTS
GeneMap99-GB4 RH Map2134.49UniSTS
Whitehead-RH Map2196.3UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2291.6UniSTS
GeneMap99-G3 RH Map21804.0UniSTS
RH104294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,101,724 - 44,101,856UniSTSGRCh37
Build 36243,955,228 - 43,955,360RGDNCBI36
Celera243,940,445 - 43,940,577RGD
Cytogenetic Map2p21UniSTS
HuRef243,838,049 - 43,838,181UniSTS
GeneMap99-GB4 RH Map2130.63UniSTS
ABCG8_1950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,105,013 - 44,105,681UniSTSGRCh37
Build 36243,958,517 - 43,959,185RGDNCBI36
Celera243,943,734 - 43,944,402RGD
HuRef243,841,338 - 43,842,006UniSTS
G29195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,105,397 - 44,105,532UniSTSGRCh37
Build 36243,958,901 - 43,959,036RGDNCBI36
Celera243,944,118 - 43,944,253RGD
Cytogenetic Map2p21UniSTS
HuRef243,841,722 - 43,841,857UniSTS
D2S2928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,082,674 - 44,082,803UniSTSGRCh37
Build 36243,936,178 - 43,936,307RGDNCBI36
Celera243,921,393 - 43,921,522RGD
Cytogenetic Map2p21UniSTS
HuRef243,819,349 - 43,819,478UniSTS
D2S119  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p21UniSTS
Marshfield Genetic Map265.39UniSTS
Genethon Genetic Map269.0UniSTS
deCODE Assembly Map268.55UniSTS
GeneMap99-GB4 RH Map2134.49UniSTS
Whitehead-RH Map2196.3UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2307.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:265
Count of miRNA genes:233
Interacting mature miRNAs:252
Transcripts:ENST00000272286
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 42 383 383 33 383 3
Low 210 11 45 44 140 46 11 3 564 68 91 9 25 1
Below cutoff 1280 1140 860 109 597 18 1975 937 2471 153 880 781 90 855 1072

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001357321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_939707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF320294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF324494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000272286   ⟹   ENSP00000272286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,838,971 - 43,882,988 (+)Ensembl
RefSeq Acc Id: ENST00000643284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,832,142 - 43,848,590 (+)Ensembl
RefSeq Acc Id: ENST00000644611   ⟹   ENSP00000495423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,831,942 - 43,873,929 (+)Ensembl
RefSeq Acc Id: NM_001357321   ⟹   NP_001344250
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,838,971 - 43,882,988 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022437   ⟹   NP_071882
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,838,971 - 43,882,988 (+)NCBI
GRCh37244,066,103 - 44,105,947 (+)NCBI
Build 36243,919,607 - 43,959,109 (+)NCBI Archive
HuRef243,802,799 - 43,841,930 (+)ENTREZGENE
CHM1_1243,995,502 - 44,035,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533029   ⟹   XP_011531331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,831,942 - 43,880,051 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533030   ⟹   XP_011531332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,832,097 - 43,880,051 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001738891
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,832,083 - 43,880,016 (+)NCBI
Sequence:
RefSeq Acc Id: XR_939707
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,832,083 - 43,880,016 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_071882   ⟸   NM_022437
- Peptide Label: isoform 1
- UniProtKB: Q9H221 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531332   ⟸   XM_011533030
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011531331   ⟸   XM_011533029
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001344250   ⟸   NM_001357321
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000272286   ⟸   ENST00000272286
RefSeq Acc Id: ENSP00000495423   ⟸   ENST00000644611
Promoters
RGD ID:6860196
Promoter ID:EPDNEW_H3263
Type:initiation region
Name:ABCG8_1
Description:ATP binding cassette subfamily G member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,838,975 - 43,839,035EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter) single nucleotide variant Sitosterolemia 1 [RCV000032718] Chr2:43846309 [GRCh38]
Chr2:44073448 [GRCh37]
Chr2:2p21
pathogenic
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) single nucleotide variant Sitosterolemia 1 [RCV000993693]|Sitosterolemia [RCV000005255]|not provided [RCV000255446] Chr2:43872094 [GRCh38]
Chr2:44099233 [GRCh37]
Chr2:2p21
pathogenic
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) single nucleotide variant Sitosterolemia 1 [RCV000993692]|Sitosterolemia [RCV000005256]|not provided [RCV000726168] Chr2:43875377 [GRCh38]
Chr2:44102516 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) single nucleotide variant Sitosterolemia 1 [RCV000005257]|not provided [RCV000593346] Chr2:43877865 [GRCh38]
Chr2:44105004 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) single nucleotide variant Sitosterolemia 1 [RCV000005258]|not provided [RCV000727975] Chr2:43852692 [GRCh38]
Chr2:44079831 [GRCh37]
Chr2:2p21
pathogenic|uncertain significance
NM_022437.3(ABCG8):c.547del (p.Gln183fs) deletion Sitosterolemia 1 [RCV000005259]|not provided [RCV000726960] Chr2:43851806 [GRCh38]
Chr2:44078945 [GRCh37]
Chr2:2p21
pathogenic
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) single nucleotide variant Sitosterolemia 1 [RCV000993691]|Sitosterolemia [RCV000005260] Chr2:43873809 [GRCh38]
Chr2:44100948 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg) single nucleotide variant Sitosterolemia 1 [RCV000005261] Chr2:43877591 [GRCh38]
Chr2:44104730 [GRCh37]
Chr2:2p21
pathogenic
NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr) single nucleotide variant Sitosterolemia 1 [RCV000005262] Chr2:43852483 [GRCh38]
Chr2:44079622 [GRCh37]
Chr2:2p21
pathogenic
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) single nucleotide variant Gallbladder disease 4 [RCV000005263]|Sitosterolemia 1 [RCV001094725]|Sitosterolemia [RCV000269126]|not specified [RCV000266053] Chr2:43839108 [GRCh38]
Chr2:44066247 [GRCh37]
Chr2:2p21
pathogenic|risk factor|benign|likely benign
NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys) single nucleotide variant Sitosterolemia 1 [RCV001263007]|Sitosterolemia [RCV000823558]|not provided [RCV000729796] Chr2:43831957 [GRCh38]
Chr2:44059096 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.165+10C>T single nucleotide variant not provided [RCV000729850] Chr2:43844618 [GRCh38]
Chr2:44071757 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.1884+9G>A single nucleotide variant not provided [RCV000728268] Chr2:43877697 [GRCh38]
Chr2:44104836 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.863C>T (p.Ser288Phe) single nucleotide variant not provided [RCV000728317] Chr2:43852767 [GRCh38]
Chr2:44079906 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) single nucleotide variant not provided [RCV000728786] Chr2:43832024 [GRCh38]
Chr2:44059163 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu) single nucleotide variant not provided [RCV000729605] Chr2:43839115 [GRCh38]
Chr2:44066254 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1211+7A>T single nucleotide variant not provided [RCV000729057] Chr2:43872313 [GRCh38]
Chr2:44099452 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.369C>T (p.His123=) single nucleotide variant not provided [RCV000729104] Chr2:43851630 [GRCh38]
Chr2:44078769 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.579G>A (p.Ala193=) single nucleotide variant not provided [RCV000728756] Chr2:43852371 [GRCh38]
Chr2:44079510 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.695-7T>C single nucleotide variant not provided [RCV000729190] Chr2:43852592 [GRCh38]
Chr2:44079731 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1757-4C>G single nucleotide variant not provided [RCV000729372] Chr2:43877557 [GRCh38]
Chr2:44104696 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.389G>T (p.Gly130Val) single nucleotide variant not provided [RCV000729375] Chr2:43851650 [GRCh38]
Chr2:44078789 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.652C>T (p.Arg218Cys) single nucleotide variant not provided [RCV000729381] Chr2:43852444 [GRCh38]
Chr2:44079583 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) single nucleotide variant not provided [RCV000594048] Chr2:43875265 [GRCh38]
Chr2:44102404 [GRCh37]
Chr2:2p21
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
NM_022437.2(ABCG8):c.689A>T (p.Asn230Ile) single nucleotide variant Malignant melanoma [RCV000065598] Chr2:43852481 [GRCh38]
Chr2:44079620 [GRCh37]
Chr2:43933124 [NCBI36]
Chr2:2p21
not provided
NM_022437.2(ABCG8):c.690C>T (p.Asn230=) single nucleotide variant Malignant melanoma [RCV000065599] Chr2:43852482 [GRCh38]
Chr2:44079621 [GRCh37]
Chr2:43933125 [NCBI36]
Chr2:2p21
not provided
NM_022437.2(ABCG8):c.1213C>T (p.Arg405Cys) single nucleotide variant Malignant melanoma [RCV000065600] Chr2:43873788 [GRCh38]
Chr2:44100927 [GRCh37]
Chr2:43954431 [NCBI36]
Chr2:2p21
not provided
NM_022437.2(ABCG8):c.1330T>A (p.Ser444Thr) single nucleotide variant Malignant melanoma [RCV000065601] Chr2:43873905 [GRCh38]
Chr2:44101044 [GRCh37]
Chr2:43954548 [NCBI36]
Chr2:2p21
not provided
NM_022437.2(ABCG8):c.208C>T (p.Gln70Ter) single nucleotide variant Malignant melanoma [RCV000060573] Chr2:43846197 [GRCh38]
Chr2:44073336 [GRCh37]
Chr2:43926840 [NCBI36]
Chr2:2p21
not provided
NM_022437.2(ABCG8):c.687G>A (p.Trp229Ter) single nucleotide variant Malignant melanoma [RCV000060574] Chr2:43852479 [GRCh38]
Chr2:44079618 [GRCh37]
Chr2:43933122 [NCBI36]
Chr2:2p21
not provided
NM_022437.2(ABCG8):c.1186G>A (p.Val396Met) single nucleotide variant Malignant melanoma [RCV000060575] Chr2:43872281 [GRCh38]
Chr2:44099420 [GRCh37]
Chr2:43952924 [NCBI36]
Chr2:2p21
not provided
NM_022437.3(ABCG8):c.965-1G>C single nucleotide variant Sitosterolemia [RCV000778619]|not provided [RCV000658014] Chr2:43871975 [GRCh38]
Chr2:44099114 [GRCh37]
Chr2:2p21
pathogenic|uncertain significance
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) single nucleotide variant Sitosterolemia 1 [RCV000289049]|not specified [RCV000180363] Chr2:43872294 [GRCh38]
Chr2:44099433 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.-19T>G single nucleotide variant Sitosterolemia 1 [RCV001094723]|Sitosterolemia [RCV000280268]|not specified [RCV000173521] Chr2:43839035 [GRCh38]
Chr2:44066174 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.51C>A (p.Pro17=) single nucleotide variant not provided [RCV000946604]|not specified [RCV000173522] Chr2:43839104 [GRCh38]
Chr2:44066243 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu) single nucleotide variant not provided [RCV000173894] Chr2:43874481 [GRCh38]
Chr2:44101620 [GRCh37]
Chr2:2p21
uncertain significance
GRCh38/hg38 2p21(chr2:43762375-44960289)x3 copy number gain See cases [RCV000135631] Chr2:43762375..44960289 [GRCh38]
Chr2:43989514..45187428 [GRCh37]
Chr2:43843018..45040932 [NCBI36]
Chr2:2p21
pathogenic|uncertain significance
GRCh38/hg38 2p21(chr2:43676810-45016061)x3 copy number gain See cases [RCV000137089] Chr2:43676810..45016061 [GRCh38]
Chr2:43903949..45243200 [GRCh37]
Chr2:43757453..45096704 [NCBI36]
Chr2:2p21
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_022436.3(ABCG5):c.229G>T (p.Glu77Ter) single nucleotide variant Sitosterolemia 2 [RCV000005269] Chr2:43837870 [GRCh38]
Chr2:44065009 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.46C>T (p.Gln16Ter) single nucleotide variant Sitosterolemia 2 [RCV000023441] Chr2:43838634 [GRCh38]
Chr2:44065773 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.2(ABCG5):c.327C>T (p.Phe109=) single nucleotide variant Malignant melanoma [RCV000065597] Chr2:43832022 [GRCh38]
Chr2:44059161 [GRCh37]
Chr2:43912665 [NCBI36]
Chr2:2p21
not provided
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) single nucleotide variant Sitosterolemia 1 [RCV001137117]|Sitosterolemia [RCV000764411]|not provided [RCV000180362] Chr2:43872296 [GRCh38]
Chr2:44099435 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.1387G>A (p.Val463Ile) single nucleotide variant not provided [RCV000180679] Chr2:43873962 [GRCh38]
Chr2:44101101 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1569A>G (p.Pro523=) single nucleotide variant Sitosterolemia 1 [RCV000262266] Chr2:43875226 [GRCh38]
Chr2:44102365 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) single nucleotide variant Sitosterolemia 1 [RCV001094625]|Sitosterolemia [RCV000264039] Chr2:43838653 [GRCh38]
Chr2:44065792 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) single nucleotide variant Sitosterolemia 1 [RCV000403108]|not provided [RCV000342751] Chr2:43877832 [GRCh38]
Chr2:44104971 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.453G>A (p.Val151=) single nucleotide variant Sitosterolemia 1 [RCV000303480]|not specified [RCV000348951] Chr2:43851714 [GRCh38]
Chr2:44078853 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val) single nucleotide variant Sitosterolemia 1 [RCV000292147]|not provided [RCV000306353] Chr2:43872117 [GRCh38]
Chr2:44099256 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) single nucleotide variant Sitosterolemia 1 [RCV001094726]|Sitosterolemia [RCV000262892]|not provided [RCV000318546] Chr2:43852616 [GRCh38]
Chr2:44079755 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) single nucleotide variant Sitosterolemia [RCV000305538]|not provided [RCV000301884] Chr2:43874431 [GRCh38]
Chr2:44101570 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) single nucleotide variant Sitosterolemia 1 [RCV000331475]|not specified [RCV000365326] Chr2:43875302 [GRCh38]
Chr2:44102441 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) single nucleotide variant Sitosterolemia 1 [RCV001094624]|Thrombocytopenia [RCV000852225]|not provided [RCV000384239] Chr2:43838600 [GRCh38]
Chr2:44065739 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) single nucleotide variant Sitosterolemia 1 [RCV000315492]|not specified [RCV000324327] Chr2:43844604 [GRCh38]
Chr2:44071743 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) single nucleotide variant Abnormal bleeding [RCV001270619]|Sitosterolemia 1 [RCV000340091]|not provided [RCV000395773] Chr2:43877815 [GRCh38]
Chr2:44104954 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.*96del deletion Sitosterolemia [RCV000286369] Chr2:43878008 [GRCh38]
Chr2:44105147 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) single nucleotide variant Sitosterolemia 1 [RCV000282782]|not specified [RCV000733035] Chr2:43877786 [GRCh38]
Chr2:44104925 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.628G>A (p.Val210Met) single nucleotide variant Sitosterolemia 1 [RCV000268337]|not provided [RCV000955917] Chr2:43852420 [GRCh38]
Chr2:44079559 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022437.3(ABCG8):c.342G>A (p.Leu114=) single nucleotide variant Sitosterolemia 1 [RCV000271754]|not provided [RCV000729735] Chr2:43851603 [GRCh38]
Chr2:44078742 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg) single nucleotide variant Sitosterolemia 1 [RCV001094755]|Sitosterolemia [RCV000275956] Chr2:43832068 [GRCh38]
Chr2:44059207 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1695C>T (p.Ala565=) single nucleotide variant Sitosterolemia 1 [RCV000276035] Chr2:43875352 [GRCh38]
Chr2:44102491 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) single nucleotide variant Sitosterolemia 1 [RCV000333238]|not specified [RCV000595016] Chr2:43872128 [GRCh38]
Chr2:44099267 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022437.3(ABCG8):c.1412-8C>T single nucleotide variant Sitosterolemia 1 [RCV000397660]|not specified [RCV000734873] Chr2:43874399 [GRCh38]
Chr2:44101538 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.675G>A (p.Val225=) single nucleotide variant Sitosterolemia 1 [RCV000353144] Chr2:43852467 [GRCh38]
Chr2:44079606 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022437.3(ABCG8):c.36G>A (p.Pro12=) single nucleotide variant Sitosterolemia 1 [RCV000375988] Chr2:43839089 [GRCh38]
Chr2:44066228 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.39G>T (p.Met13Ile) single nucleotide variant Sitosterolemia 1 [RCV000377306] Chr2:43838641 [GRCh38]
Chr2:44065780 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.642G>A (p.Ser214=) single nucleotide variant Sitosterolemia 1 [RCV000317041]|not provided [RCV000597045] Chr2:43852434 [GRCh38]
Chr2:44079573 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.762C>T (p.Thr254=) single nucleotide variant Sitosterolemia 1 [RCV000318126] Chr2:43852666 [GRCh38]
Chr2:44079805 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu) single nucleotide variant Sitosterolemia 1 [RCV000357070] Chr2:43875225 [GRCh38]
Chr2:44102364 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1756+15C>T single nucleotide variant Sitosterolemia 1 [RCV000288872] Chr2:43875428 [GRCh38]
Chr2:44102567 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022437.3(ABCG8):c.611G>A (p.Arg204His) single nucleotide variant Sitosterolemia 1 [RCV000358331]|not provided [RCV001247274] Chr2:43852403 [GRCh38]
Chr2:44079542 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1736A>T (p.Asn579Ile) single nucleotide variant Sitosterolemia 1 [RCV000380944] Chr2:43875393 [GRCh38]
Chr2:44102532 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.94A>G (p.Ser32Gly) single nucleotide variant Sitosterolemia 1 [RCV000403947]|not provided [RCV000967641] Chr2:43844537 [GRCh38]
Chr2:44071676 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022437.3(ABCG8):c.1412-9_1412-8insT insertion Sitosterolemia [RCV000340620] Chr2:43874398..43874399 [GRCh38]
Chr2:44101537..44101538 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.1470T>C (p.Gly490=) single nucleotide variant Sitosterolemia 1 [RCV000360299] Chr2:43874465 [GRCh38]
Chr2:44101604 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) single nucleotide variant Sitosterolemia 1 [RCV000384329]|not provided [RCV000592118] Chr2:43877589 [GRCh38]
Chr2:44104728 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) single nucleotide variant Sitosterolemia 1 [RCV000306959]|not provided [RCV000955916] Chr2:43846228 [GRCh38]
Chr2:44073367 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln) single nucleotide variant Sitosterolemia 1 [RCV000362294]|not provided [RCV000523427] Chr2:43837917 [GRCh38]
Chr2:44065056 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1061G>A (p.Arg354His) single nucleotide variant Sitosterolemia 1 [RCV000386530] Chr2:43872072 [GRCh38]
Chr2:44099211 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=) single nucleotide variant Sitosterolemia 1 [RCV000387716]|not specified [RCV000595758] Chr2:43872265 [GRCh38]
Chr2:44099404 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn) single nucleotide variant Sitosterolemia 1 [RCV000366265] Chr2:43846264 [GRCh38]
Chr2:44073403 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=) single nucleotide variant Sitosterolemia 1 [RCV000327423]|not provided [RCV000966795] Chr2:43877586 [GRCh38]
Chr2:44104725 [GRCh37]
Chr2:2p21
benign|likely benign|uncertain significance
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) single nucleotide variant Sitosterolemia 1 [RCV000297461]|not provided [RCV000963087] Chr2:43875163 [GRCh38]
Chr2:44102302 [GRCh37]
Chr2:2p21
benign|likely benign|uncertain significance
NM_022437.3(ABCG8):c.220C>G (p.Pro74Ala) single nucleotide variant Sitosterolemia 1 [RCV000394801] Chr2:43846209 [GRCh38]
Chr2:44073348 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.64-7C>T single nucleotide variant Sitosterolemia 1 [RCV000350519] Chr2:43844500 [GRCh38]
Chr2:44071639 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.165+13C>T single nucleotide variant Sitosterolemia 1 [RCV000351233] Chr2:43844621 [GRCh38]
Chr2:44071760 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) single nucleotide variant Sitosterolemia 1 [RCV001143675]|not provided [RCV000303441] Chr2:43872105 [GRCh38]
Chr2:44099244 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) single nucleotide variant Sitosterolemia 1 [RCV001141660]|Sitosterolemia [RCV001086479]|not provided [RCV000766455]|not specified [RCV000376941] Chr2:43832056 [GRCh38]
Chr2:44059195 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.1225A>G (p.Asn409Asp) single nucleotide variant not provided [RCV000272646] Chr2:43873800 [GRCh38]
Chr2:44100939 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=) single nucleotide variant not provided [RCV000275812] Chr2:43874411 [GRCh38]
Chr2:44101550 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1611G>A (p.Leu537=) single nucleotide variant not provided [RCV000380657] Chr2:43875268 [GRCh38]
Chr2:44102407 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.28G>A (p.Gly10Arg) single nucleotide variant not provided [RCV000313279] Chr2:43838652 [GRCh38]
Chr2:44065791 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) single nucleotide variant Sitosterolemia 1 [RCV001143674]|not provided [RCV000345893] Chr2:43852774 [GRCh38]
Chr2:44079913 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1837T>C (p.Tyr613His) single nucleotide variant not provided [RCV000384026] Chr2:43877641 [GRCh38]
Chr2:44104780 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1756+6G>A single nucleotide variant not provided [RCV000279671] Chr2:43875419 [GRCh38]
Chr2:44102558 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.98C>G (p.Pro33Arg) single nucleotide variant not provided [RCV000281113] Chr2:43838582 [GRCh38]
Chr2:44065721 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.172C>G (p.Leu58Val) single nucleotide variant not provided [RCV000347917] Chr2:43846161 [GRCh38]
Chr2:44073300 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.43C>G (p.Leu15Val) single nucleotide variant not provided [RCV000350361] Chr2:43838637 [GRCh38]
Chr2:44065776 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1656G>A (p.Leu552=) single nucleotide variant not specified [RCV000283483] Chr2:43875313 [GRCh38]
Chr2:44102452 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.265+10G>A single nucleotide variant not provided [RCV000285579] Chr2:43837824 [GRCh38]
Chr2:44064963 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1495G>A (p.Gly499Arg) single nucleotide variant Sitosterolemia 1 [RCV001139360]|not provided [RCV000356172] Chr2:43875152 [GRCh38]
Chr2:44102291 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.322+10A>G single nucleotide variant not provided [RCV000288199] Chr2:43846321 [GRCh38]
Chr2:44073460 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly) single nucleotide variant Sitosterolemia [RCV000892629]|not specified [RCV000393828] Chr2:43838630 [GRCh38]
Chr2:44065769 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.787C>T (p.Arg263Trp) single nucleotide variant not provided [RCV000358504] Chr2:43852691 [GRCh38]
Chr2:44079830 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln) single nucleotide variant Sitosterolemia 1 [RCV001139254]|not specified [RCV000395777] Chr2:43851752 [GRCh38]
Chr2:44078891 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022437.3(ABCG8):c.331A>C (p.Arg111=) single nucleotide variant Sitosterolemia 1 [RCV001137001]|not provided [RCV000292088] Chr2:43851592 [GRCh38]
Chr2:44078731 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) single nucleotide variant not provided [RCV000296238] Chr2:43872104 [GRCh38]
Chr2:44099243 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.729C>T (p.Leu243=) single nucleotide variant not provided [RCV000267860] Chr2:43852633 [GRCh38]
Chr2:44079772 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.551G>A (p.Arg184His) single nucleotide variant not provided [RCV000406333] Chr2:43851812 [GRCh38]
Chr2:44078951 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser) single nucleotide variant Sitosterolemia [RCV000779329]|not provided [RCV000597056] Chr2:43875286 [GRCh38]
Chr2:44102425 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.351G>A (p.Val117=) single nucleotide variant not provided [RCV000594804] Chr2:43851612 [GRCh38]
Chr2:44078751 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.470T>A (p.Leu157Gln) single nucleotide variant not provided [RCV000595273] Chr2:43851731 [GRCh38]
Chr2:44078870 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.63_63+53del deletion not provided [RCV000596937] Chr2:43839114..43839167 [GRCh38]
Chr2:44066253..44066306 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022437.3(ABCG8):c.1763C>A (p.Ala588Glu) single nucleotide variant not provided [RCV000596670] Chr2:43877567 [GRCh38]
Chr2:44104706 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.-15A>C single nucleotide variant Sitosterolemia 1 [RCV001094724]|Sitosterolemia [RCV000335368] Chr2:43839039 [GRCh38]
Chr2:44066178 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022437.3(ABCG8):c.1675G>T (p.Ala559Ser) single nucleotide variant Sitosterolemia 1 [RCV000367511] Chr2:43875332 [GRCh38]
Chr2:44102471 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1210del (p.Arg404fs) deletion Sitosterolemia [RCV000405530] Chr2:43872304 [GRCh38]
Chr2:44099443 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.*206C>T single nucleotide variant Sitosterolemia 1 [RCV000406129] Chr2:43878119 [GRCh38]
Chr2:44105258 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.266G>C (p.Gly89Ala) single nucleotide variant Sitosterolemia 1 [RCV000307666] Chr2:43832083 [GRCh38]
Chr2:44059222 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.*141T>G single nucleotide variant Sitosterolemia 1 [RCV000336457] Chr2:43878054 [GRCh38]
Chr2:44105193 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-118A>C single nucleotide variant Sitosterolemia 1 [RCV001094673]|Sitosterolemia [RCV000274880] Chr2:43838797 [GRCh38]
Chr2:44065936 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) single nucleotide variant Sitosterolemia 1 [RCV001094756]|Sitosterolemia [RCV000272378]|not specified [RCV000365368] Chr2:43837951 [GRCh38]
Chr2:44065090 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022437.3(ABCG8):c.*523_*531del deletion Sitosterolemia [RCV000301299] Chr2:43878433..43878441 [GRCh38]
Chr2:44105572..44105580 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1203G>A (p.Thr401=) single nucleotide variant Sitosterolemia 1 [RCV000344050] Chr2:43872298 [GRCh38]
Chr2:44099437 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.-53C>G single nucleotide variant Sitosterolemia 1 [RCV000379394] Chr2:43839001 [GRCh38]
Chr2:44066140 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1489-15G>A single nucleotide variant Sitosterolemia 1 [RCV000397664] Chr2:43875131 [GRCh38]
Chr2:44102270 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.576C>T (p.Ile192=) single nucleotide variant Sitosterolemia 1 [RCV001139257]|not provided [RCV000907221]|not specified [RCV000596127] Chr2:43852368 [GRCh38]
Chr2:44079507 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022437.3(ABCG8):c.1212-7T>A single nucleotide variant Sitosterolemia 1 [RCV001137120]|not provided [RCV000596297] Chr2:43873780 [GRCh38]
Chr2:44100919 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.15G>A (p.Ala5=) single nucleotide variant not provided [RCV000596309] Chr2:43839068 [GRCh38]
Chr2:44066207 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1411+8T>A single nucleotide variant not provided [RCV000596342] Chr2:43873994 [GRCh38]
Chr2:44101133 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.1385A>G (p.Asn462Ser) single nucleotide variant Sitosterolemia 1 [RCV001139358] Chr2:43873960 [GRCh38]
Chr2:44101099 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.634G>T (p.Gly212Trp) single nucleotide variant not provided [RCV000591653] Chr2:43852426 [GRCh38]
Chr2:44079565 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.365G>A (p.Arg122Gln) single nucleotide variant not provided [RCV000591667] Chr2:43831984 [GRCh38]
Chr2:44059123 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) single nucleotide variant Sitosterolemia 1 [RCV001137122]|not provided [RCV000730098] Chr2:43873928 [GRCh38]
Chr2:44101067 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1212-10G>C single nucleotide variant not provided [RCV000730100] Chr2:43873777 [GRCh38]
Chr2:44100916 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=) single nucleotide variant not provided [RCV000592534] Chr2:43877904 [GRCh38]
Chr2:44105043 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.613G>C (p.Val205Leu) single nucleotide variant not provided [RCV000592640] Chr2:43852405 [GRCh38]
Chr2:44079544 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1807C>G (p.Leu603Val) single nucleotide variant not provided [RCV000592962] Chr2:43877611 [GRCh38]
Chr2:44104750 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1852G>C (p.Gly618Arg) single nucleotide variant not provided [RCV000597504] Chr2:43877656 [GRCh38]
Chr2:44104795 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr) single nucleotide variant not provided [RCV000593013] Chr2:43875305 [GRCh38]
Chr2:44102444 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1522A>G (p.Ile508Val) single nucleotide variant not provided [RCV000593053] Chr2:43875179 [GRCh38]
Chr2:44102318 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_022437.3(ABCG8):c.1169C>G (p.Thr390Arg) single nucleotide variant not provided [RCV000730348] Chr2:43872264 [GRCh38]
Chr2:44099403 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1336A>G (p.Met446Val) single nucleotide variant not provided [RCV000598191] Chr2:43873911 [GRCh38]
Chr2:44101050 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1943T>C (p.Ile648Thr) single nucleotide variant not provided [RCV000598375] Chr2:43877834 [GRCh38]
Chr2:44104973 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-85A>C single nucleotide variant Sitosterolemia 1 [RCV001139137] Chr2:43838764 [GRCh38]
Chr2:44065903 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val) single nucleotide variant not provided [RCV000593479] Chr2:43838568 [GRCh38]
Chr2:44065707 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs) duplication not provided [RCV000593549] Chr2:43852436..43852437 [GRCh38]
Chr2:44079575..44079576 [GRCh37]
Chr2:2p21
pathogenic
NM_022437.3(ABCG8):c.745C>G (p.His249Asp) single nucleotide variant not provided [RCV000593646] Chr2:43852649 [GRCh38]
Chr2:44079788 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1059G>C (p.Val353=) single nucleotide variant not provided [RCV000596816] Chr2:43872070 [GRCh38]
Chr2:44099209 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.949C>A (p.Pro317Thr) single nucleotide variant not provided [RCV000596861] Chr2:43852853 [GRCh38]
Chr2:44079992 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=) single nucleotide variant not provided [RCV000593809] Chr2:43877593 [GRCh38]
Chr2:44104732 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.888G>T (p.Ala296=) single nucleotide variant not provided [RCV000597431] Chr2:43852792 [GRCh38]
Chr2:44079931 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=) single nucleotide variant not provided [RCV000591149] Chr2:43875307 [GRCh38]
Chr2:44102446 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.562-7C>A single nucleotide variant Sitosterolemia 1 [RCV001139256] Chr2:43852347 [GRCh38]
Chr2:44079486 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1817T>C (p.Ile606Thr) single nucleotide variant not provided [RCV000591321] Chr2:43877621 [GRCh38]
Chr2:44104760 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1429A>G (p.Met477Val) single nucleotide variant not provided [RCV000591381] Chr2:43874424 [GRCh38]
Chr2:44101563 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1406C>A (p.Ser469Tyr) single nucleotide variant not provided [RCV000591498] Chr2:43873981 [GRCh38]
Chr2:44101120 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) single nucleotide variant Sitosterolemia 1 [RCV001336053]|not provided [RCV000591513] Chr2:43844540 [GRCh38]
Chr2:44071679 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=) single nucleotide variant not provided [RCV000730596] Chr2:43873868 [GRCh38]
Chr2:44101007 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.*6G>A single nucleotide variant not provided [RCV000731005] Chr2:43877919 [GRCh38]
Chr2:44105058 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1469G>C (p.Gly490Ala) single nucleotide variant not provided [RCV000731016] Chr2:43874464 [GRCh38]
Chr2:44101603 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile) single nucleotide variant not provided [RCV000731084] Chr2:43838541 [GRCh38]
Chr2:44065680 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.612C>T (p.Arg204=) single nucleotide variant not provided [RCV000731122] Chr2:43852404 [GRCh38]
Chr2:44079543 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.938G>A (p.Arg313His) single nucleotide variant not provided [RCV000732038] Chr2:43852842 [GRCh38]
Chr2:44079981 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1366G>A (p.Gly456Ser) single nucleotide variant Sitosterolemia 1 [RCV001139357]|not provided [RCV000732991] Chr2:43873941 [GRCh38]
Chr2:44101080 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.21G>C (p.Glu7Asp) single nucleotide variant not provided [RCV000729574] Chr2:43839074 [GRCh38]
Chr2:44066213 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.86C>T (p.Pro29Leu) single nucleotide variant not provided [RCV000731163] Chr2:43838594 [GRCh38]
Chr2:44065733 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) single nucleotide variant not provided [RCV000732196] Chr2:43872035 [GRCh38]
Chr2:44099174 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1894_1895inv (p.Val632Thr) inversion not provided [RCV000733112] Chr2:43877785..43877786 [GRCh38]
Chr2:44104924..44104925 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile) single nucleotide variant not provided [RCV000733144] Chr2:43877649 [GRCh38]
Chr2:44104788 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.785A>G (p.Asn262Ser) single nucleotide variant not provided [RCV000733843] Chr2:43852689 [GRCh38]
Chr2:44079828 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.450C>T (p.His150=) single nucleotide variant not provided [RCV000594132] Chr2:43851711 [GRCh38]
Chr2:44078850 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1637C>T (p.Ala546Val) single nucleotide variant not provided [RCV000735144] Chr2:43875294 [GRCh38]
Chr2:44102433 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1756+6G>T single nucleotide variant not provided [RCV000728576] Chr2:43875419 [GRCh38]
Chr2:44102558 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1657C>T (p.Leu553Phe) single nucleotide variant not provided [RCV000730223] Chr2:43875314 [GRCh38]
Chr2:44102453 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1070A>G (p.Asp357Gly) single nucleotide variant not provided [RCV000730271] Chr2:43872081 [GRCh38]
Chr2:44099220 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1752G>C (p.Trp584Cys) single nucleotide variant not provided [RCV000730275] Chr2:43875409 [GRCh38]
Chr2:44102548 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.220T>G (p.Leu74Val) single nucleotide variant not provided [RCV000733169] Chr2:43837879 [GRCh38]
Chr2:44065018 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.99G>A (p.Pro33=) single nucleotide variant not provided [RCV000733189] Chr2:43838581 [GRCh38]
Chr2:44065720 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1762G>A (p.Ala588Thr) single nucleotide variant not provided [RCV000733250] Chr2:43877566 [GRCh38]
Chr2:44104705 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1852G>A (p.Gly618Arg) single nucleotide variant not provided [RCV000734446] Chr2:43877656 [GRCh38]
Chr2:44104795 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.694+5G>C single nucleotide variant not provided [RCV000728644] Chr2:43852491 [GRCh38]
Chr2:44079630 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.300C>G (p.Ser100=) single nucleotide variant not provided [RCV000728787] Chr2:43832049 [GRCh38]
Chr2:44059188 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.860C>T (p.Thr287Met) single nucleotide variant not provided [RCV000730336] Chr2:43852764 [GRCh38]
Chr2:44079903 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) single nucleotide variant not provided [RCV000730444] Chr2:43874468 [GRCh38]
Chr2:44101607 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.1557C>T (p.Ala519=) single nucleotide variant not provided [RCV000731407] Chr2:43875214 [GRCh38]
Chr2:44102353 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser) single nucleotide variant not provided [RCV000731435] Chr2:43875410 [GRCh38]
Chr2:44102549 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.385T>A (p.Ser129Thr) single nucleotide variant not provided [RCV000732433] Chr2:43851646 [GRCh38]
Chr2:44078785 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1885-7T>C single nucleotide variant not provided [RCV000594504] Chr2:43877769 [GRCh38]
Chr2:44104908 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1061G>T (p.Arg354Leu) single nucleotide variant not provided [RCV000733381] Chr2:43872072 [GRCh38]
Chr2:44099211 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=) single nucleotide variant Sitosterolemia 1 [RCV001141977]|not provided [RCV000733393] Chr2:43875304 [GRCh38]
Chr2:44102443 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1549T>C (p.Trp517Arg) single nucleotide variant not provided [RCV000734098] Chr2:43875206 [GRCh38]
Chr2:44102345 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.322+6G>A single nucleotide variant not provided [RCV000734717] Chr2:43846317 [GRCh38]
Chr2:44073456 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1754C>T (p.Thr585Ile) single nucleotide variant not provided [RCV000594606] Chr2:43875411 [GRCh38]
Chr2:44102550 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=) single nucleotide variant not provided [RCV000732565] Chr2:43872295 [GRCh38]
Chr2:44099434 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.714A>G (p.Glu238=) single nucleotide variant not provided [RCV000734174] Chr2:43852618 [GRCh38]
Chr2:44079757 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.72_73delinsC (p.Gln24fs) indel not provided [RCV000734832] Chr2:43844515..43844516 [GRCh38]
Chr2:44071654..44071655 [GRCh37]
Chr2:2p21
pathogenic
NM_022437.3(ABCG8):c.1412-8dup duplication not specified [RCV000734849] Chr2:43874398..43874399 [GRCh38]
Chr2:44101537..44101538 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.215A>T (p.Lys72Met) single nucleotide variant not provided [RCV000731656] Chr2:43846204 [GRCh38]
Chr2:44073343 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1220T>A (p.Ile407Asn) single nucleotide variant not provided [RCV000733628] Chr2:43873795 [GRCh38]
Chr2:44100934 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.866G>A (p.Gly289Asp) single nucleotide variant not provided [RCV000734222] Chr2:43852770 [GRCh38]
Chr2:44079909 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=) single nucleotide variant not provided [RCV000729660] Chr2:43875190 [GRCh38]
Chr2:44102329 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=) single nucleotide variant not provided [RCV000732801] Chr2:43877814 [GRCh38]
Chr2:44104953 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.576C>A (p.Ile192=) single nucleotide variant not provided [RCV000732858] Chr2:43852368 [GRCh38]
Chr2:44079507 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44103017-44235543)x2 copy number gain not provided [RCV000752930] Chr2:44103017..44235543 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter) single nucleotide variant not provided [RCV000594922] Chr2:43844563 [GRCh38]
Chr2:44071702 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.282G>A (p.Thr94=) single nucleotide variant not provided [RCV000730751] Chr2:43832067 [GRCh38]
Chr2:44059206 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.35C>T (p.Pro12Leu) single nucleotide variant not provided [RCV000730773] Chr2:43839088 [GRCh38]
Chr2:44066227 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1180G>C (p.Gly394Arg) single nucleotide variant not provided [RCV000730779] Chr2:43872275 [GRCh38]
Chr2:44099414 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.546C>T (p.Ala182=) single nucleotide variant not provided [RCV000731761] Chr2:43851807 [GRCh38]
Chr2:44078946 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.130C>A (p.Pro44Thr) single nucleotide variant not provided [RCV000731763] Chr2:43844573 [GRCh38]
Chr2:44071712 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val) single nucleotide variant Sitosterolemia 1 [RCV001139258]|not provided [RCV000732928] Chr2:43852370 [GRCh38]
Chr2:44079509 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) single nucleotide variant not provided [RCV000732929] Chr2:43875372 [GRCh38]
Chr2:44102511 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.768C>T (p.Ser256=) single nucleotide variant not provided [RCV000732945] Chr2:43852672 [GRCh38]
Chr2:44079811 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=) single nucleotide variant not provided [RCV000729179] Chr2:43875253 [GRCh38]
Chr2:44102392 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) single nucleotide variant Sitosterolemia 1 [RCV001143788]|not provided [RCV000730825] Chr2:43877643 [GRCh38]
Chr2:44104782 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) single nucleotide variant not provided [RCV000731839] Chr2:43875324 [GRCh38]
Chr2:44102463 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.181C>T (p.Arg61Trp) single nucleotide variant Sitosterolemia [RCV001343394]|not provided [RCV000734914] Chr2:43837918 [GRCh38]
Chr2:44065057 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.619A>G (p.Asn207Asp) single nucleotide variant Sitosterolemia 1 [RCV001139259]|not provided [RCV000730905] Chr2:43852411 [GRCh38]
Chr2:44079550 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.249C>T (p.Cys83=) single nucleotide variant not provided [RCV000729378] Chr2:43837850 [GRCh38]
Chr2:44064989 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) single nucleotide variant Sitosterolemia 1 [RCV001143473]|Sitosterolemia [RCV001319981]|not provided [RCV000734930] Chr2:43837864 [GRCh38]
Chr2:44065003 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1211+10T>C single nucleotide variant not provided [RCV000729546] Chr2:43872316 [GRCh38]
Chr2:44099455 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44065338-44079721)x3 copy number gain See cases [RCV000449177] Chr2:44065338..44079721 [GRCh37]
Chr2:2p21
benign
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_022436.3(ABCG5):c.94G>A (p.Ala32Thr) single nucleotide variant not specified [RCV000503124] Chr2:43838586 [GRCh38]
Chr2:44065725 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.11:g.38121110_47669522inv inversion Lynch syndrome [RCV000494356] Chr2:38121110..47669522 [GRCh37]
Chr2:2p22.2-21
pathogenic
GRCh37/hg19 2p21(chr2:43386188-45013725)x3 copy number gain See cases [RCV000511805] Chr2:43386188..45013725 [GRCh37]
Chr2:2p21
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_022437.3(ABCG8):c.-10T>C single nucleotide variant not provided [RCV000595991] Chr2:43839044 [GRCh38]
Chr2:44066183 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.965-1G>A single nucleotide variant Sitosterolemia [RCV000602419] Chr2:43871975 [GRCh38]
Chr2:44099114 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022437.3(ABCG8):c.64-2A>G single nucleotide variant not provided [RCV000595922] Chr2:43844505 [GRCh38]
Chr2:44071644 [GRCh37]
Chr2:2p21
pathogenic
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=) single nucleotide variant not provided [RCV000596016] Chr2:43872136 [GRCh38]
Chr2:44099275 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1453G>A (p.Gly485Arg) single nucleotide variant not provided [RCV000596193] Chr2:43874448 [GRCh38]
Chr2:44101587 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) single nucleotide variant Sitosterolemia 1 [RCV001137121]|not provided [RCV000596406] Chr2:43873860 [GRCh38]
Chr2:44100999 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly) single nucleotide variant Sitosterolemia 1 [RCV001143575]|not provided [RCV000594891] Chr2:43844519 [GRCh38]
Chr2:44071658 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.-27G>A single nucleotide variant Congenital hemolytic anemia [RCV000655925] Chr2:43839027 [GRCh38]
Chr2:44066166 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) single nucleotide variant Sitosterolemia [RCV000764410]|not provided [RCV000596299] Chr2:43872255 [GRCh38]
Chr2:44099394 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
GRCh37/hg19 2p21(chr2:44087491-44109281)x3 copy number gain not provided [RCV000752929] Chr2:44087491..44109281 [GRCh37]
Chr2:2p21
benign
GRCh37/hg19 2p21(chr2:44070780-44132918)x1 copy number loss not provided [RCV000752928] Chr2:44070780..44132918 [GRCh37]
Chr2:2p21
likely benign
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_022437.3(ABCG8):c.1107C>T (p.Asp369=) single nucleotide variant not provided [RCV000980476] Chr2:43872118 [GRCh38]
Chr2:44099257 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser) single nucleotide variant not provided [RCV000885112] Chr2:43873801 [GRCh38]
Chr2:44100940 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) single nucleotide variant Sitosterolemia 1 [RCV001137123]|not provided [RCV000966357] Chr2:43873940 [GRCh38]
Chr2:44101079 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.154C>G (p.Leu52Val) single nucleotide variant Sitosterolemia 1 [RCV001143576]|not provided [RCV000946605] Chr2:43844597 [GRCh38]
Chr2:44071736 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val) single nucleotide variant not provided [RCV000960559] Chr2:43877854 [GRCh38]
Chr2:44104993 [GRCh37]
Chr2:2p21
benign
GRCh37/hg19 2p21(chr2:44024281-44136423)x1 copy number loss not provided [RCV000847791] Chr2:44024281..44136423 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1866C>A (p.Ile622=) single nucleotide variant not provided [RCV000796296] Chr2:43877670 [GRCh38]
Chr2:44104809 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.*344A>G single nucleotide variant Sitosterolemia 1 [RCV001137229] Chr2:43878257 [GRCh38]
Chr2:44105396 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.175G>T (p.Ala59Ser) single nucleotide variant Sitosterolemia 1 [RCV001136999] Chr2:43846164 [GRCh38]
Chr2:44073303 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1691A>G (p.Asn564Ser) single nucleotide variant not provided [RCV000800700] Chr2:43875348 [GRCh38]
Chr2:44102487 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.561+14C>T single nucleotide variant Sitosterolemia 1 [RCV001139255] Chr2:43851836 [GRCh38]
Chr2:44078975 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.139G>C (p.Val47Leu) single nucleotide variant Sitosterolemia 1 [RCV001136897] Chr2:43838541 [GRCh38]
Chr2:44065680 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1202C>T (p.Thr401Met) single nucleotide variant Sitosterolemia 1 [RCV001137118] Chr2:43872297 [GRCh38]
Chr2:44099436 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:43995167-44385714)x3 copy number gain not provided [RCV001005254] Chr2:43995167..44385714 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.1513T>C (p.Cys505Arg) single nucleotide variant not provided [RCV001237690] Chr2:43875170 [GRCh38]
Chr2:44102309 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) single nucleotide variant Sitosterolemia 1 [RCV001136896] Chr2:43838541 [GRCh38]
Chr2:44065680 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.*12C>G single nucleotide variant Sitosterolemia 1 [RCV001137228] Chr2:43877925 [GRCh38]
Chr2:44105064 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.*376C>T single nucleotide variant Sitosterolemia 1 [RCV001137230] Chr2:43878289 [GRCh38]
Chr2:44105428 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.-31T>C single nucleotide variant Sitosterolemia 1 [RCV001141760] Chr2:43839023 [GRCh38]
Chr2:44066162 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.743C>T (p.Ala248Val) single nucleotide variant Sitosterolemia 1 [RCV001141880] Chr2:43852647 [GRCh38]
Chr2:44079786 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.786C>A (p.Asn262Lys) single nucleotide variant Sitosterolemia 1 [RCV001141881] Chr2:43852690 [GRCh38]
Chr2:44079829 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1017G>A (p.Arg339=) single nucleotide variant not provided [RCV000931609] Chr2:43872028 [GRCh38]
Chr2:44099167 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.1716C>T (p.Leu572=) single nucleotide variant not provided [RCV000974764] Chr2:43875373 [GRCh38]
Chr2:44102512 [GRCh37]
Chr2:2p21
benign
NM_022437.3(ABCG8):c.1386C>T (p.Asn462=) single nucleotide variant Sitosterolemia 1 [RCV001139359]|not provided [RCV000888273] Chr2:43873961 [GRCh38]
Chr2:44101100 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.33G>T (p.Gly11=) single nucleotide variant not provided [RCV000921471] Chr2:43838647 [GRCh38]
Chr2:44065786 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.-33A>C single nucleotide variant Sitosterolemia 1 [RCV001139135] Chr2:43838712 [GRCh38]
Chr2:44065851 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.207C>G (p.Leu69=) single nucleotide variant Sitosterolemia 1 [RCV001143474] Chr2:43837892 [GRCh38]
Chr2:44065031 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.888G>A (p.Ala296=) single nucleotide variant not provided [RCV000912688] Chr2:43852792 [GRCh38]
Chr2:44079931 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.855G>A (p.Leu285=) single nucleotide variant Sitosterolemia 1 [RCV001143673] Chr2:43852759 [GRCh38]
Chr2:44079898 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1743C>A (p.Ser581Arg) single nucleotide variant Sitosterolemia 1 [RCV001143787] Chr2:43875400 [GRCh38]
Chr2:44102539 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-24G>C single nucleotide variant Sitosterolemia 1 [RCV001139134] Chr2:43838703 [GRCh38]
Chr2:44065842 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.455G>A (p.Arg152His) single nucleotide variant Sitosterolemia 1 [RCV001139253] Chr2:43851716 [GRCh38]
Chr2:44078855 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1346C>T (p.Ala449Val) single nucleotide variant not provided [RCV001217061] Chr2:43873921 [GRCh38]
Chr2:44101060 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-41C>T single nucleotide variant Sitosterolemia 1 [RCV001139136] Chr2:43838720 [GRCh38]
Chr2:44065859 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.69C>T (p.Ser23=) single nucleotide variant Sitosterolemia 1 [RCV001136899] Chr2:43838611 [GRCh38]
Chr2:44065750 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.-48G>T single nucleotide variant Sitosterolemia 1 [RCV001141759] Chr2:43839006 [GRCh38]
Chr2:44066145 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.694+7G>T single nucleotide variant Sitosterolemia 1 [RCV001141879] Chr2:43852493 [GRCh38]
Chr2:44079632 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.151G>A (p.Val51Met) single nucleotide variant Sitosterolemia 1 [RCV001143475] Chr2:43837948 [GRCh38]
Chr2:44065087 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1858C>T (p.Leu620Phe) single nucleotide variant Sitosterolemia 1 [RCV001143789] Chr2:43877662 [GRCh38]
Chr2:44104801 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe) single nucleotide variant not provided [RCV001092627] Chr2:43852626 [GRCh38]
Chr2:44079765 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.*507G>C single nucleotide variant Sitosterolemia 1 [RCV001139476] Chr2:43878420 [GRCh38]
Chr2:44105559 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp) single nucleotide variant Sitosterolemia 1 [RCV001136898] Chr2:43838602 [GRCh38]
Chr2:44065741 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.23C>A (p.Thr8Asn) single nucleotide variant Sitosterolemia 1 [RCV001136900] Chr2:43838657 [GRCh38]
Chr2:44065796 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.285G>C (p.Val95=) single nucleotide variant Sitosterolemia 1 [RCV001137000] Chr2:43846274 [GRCh38]
Chr2:44073413 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1206G>C (p.Leu402=) single nucleotide variant Sitosterolemia 1 [RCV001137119] Chr2:43872301 [GRCh38]
Chr2:44099440 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.*477A>G single nucleotide variant Sitosterolemia 1 [RCV001137231] Chr2:43878390 [GRCh38]
Chr2:44105529 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1444del (p.Leu482fs) deletion not provided [RCV001233551] Chr2:43874439 [GRCh38]
Chr2:44101578 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.226G>A (p.Val76Met) single nucleotide variant Sitosterolemia [RCV001062708] Chr2:43837873 [GRCh38]
Chr2:44065012 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter) single nucleotide variant Sitosterolemia 1 [RCV001248858] Chr2:43852808 [GRCh38]
Chr2:44079947 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.281C>T (p.Thr94Met) single nucleotide variant Sitosterolemia 1 [RCV001143472] Chr2:43832068 [GRCh38]
Chr2:44059207 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.168G>A (p.Val56=) single nucleotide variant Sitosterolemia 1 [RCV001143577] Chr2:43846157 [GRCh38]
Chr2:44073296 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.632G>A (p.Arg211Gln) single nucleotide variant not provided [RCV001214704] Chr2:43852424 [GRCh38]
Chr2:44079563 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44058332-44323064)x3 copy number gain not provided [RCV001258529] Chr2:44058332..44323064 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.749A>G (p.Asn250Ser) single nucleotide variant not provided [RCV001309653] Chr2:43852653 [GRCh38]
Chr2:44079792 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.1269G>T (p.Glu423Asp) single nucleotide variant not provided [RCV001295248] Chr2:43873844 [GRCh38]
Chr2:44100983 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.292_293delinsTG (p.Ala98Cys) indel Sitosterolemia 1 [RCV001329275] Chr2:43832056..43832057 [GRCh38]
Chr2:44059195..44059196 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.977G>A (p.Ser326Asn) single nucleotide variant not provided [RCV001315535] Chr2:43871988 [GRCh38]
Chr2:44099127 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.2T>C (p.Met1Thr) single nucleotide variant Sitosterolemia [RCV001346003] Chr2:43838678 [GRCh38]
Chr2:44065817 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp) single nucleotide variant Sitosterolemia [RCV001307964] Chr2:43838564 [GRCh38]
Chr2:44065703 [GRCh37]
Chr2:2p21
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13887 AgrOrtholog
COSMIC ABCG8 COSMIC
Ensembl Genes ENSG00000143921 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000272286 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495423 UniProtKB/TrEMBL
Ensembl Transcript ENST00000272286 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644611 UniProtKB/TrEMBL
GTEx ENSG00000143921 GTEx
HGNC ID HGNC:13887 ENTREZGENE
Human Proteome Map ABCG8 Human Proteome Map
InterPro ABC_2_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCG_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64241 UniProtKB/Swiss-Prot
NCBI Gene 64241 ENTREZGENE
OMIM 210250 OMIM
  605460 OMIM
  611465 OMIM
Pfam ABC2_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC2_membrane_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24412 PharmGKB
PROSITE ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y6M1_HUMAN UniProtKB/TrEMBL
  ABCG8_HUMAN UniProtKB/Swiss-Prot
  B7ZL41_HUMAN UniProtKB/TrEMBL
  Q14CR0_HUMAN UniProtKB/TrEMBL
  Q96A01_HUMAN UniProtKB/TrEMBL
  Q9H221 ENTREZGENE
UniProt Secondary Q53QN8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCG8  ATP binding cassette subfamily G member 8    ATP-binding cassette, sub-family G (WHITE), member 8  Symbol and/or name change 5135510 APPROVED
2011-08-16 ABCG8  ATP-binding cassette, sub-family G (WHITE), member 8  ABCG8  ATP-binding cassette, sub-family G (WHITE), member 8  Symbol and/or name change 5135510 APPROVED