ABCG5 (ATP binding cassette subfamily G member 5) - Rat Genome Database

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Gene: ABCG5 (ATP binding cassette subfamily G member 5) Homo sapiens
Analyze
Symbol: ABCG5
Name: ATP binding cassette subfamily G member 5
RGD ID: 732219
HGNC Page HGNC:13886
Description: Enables ATPase-coupled transmembrane transporter activity and protein heterodimerization activity. Contributes to ATP binding activity; ATP hydrolysis activity; and cholesterol transfer activity. Involved in cholesterol efflux; cholesterol homeostasis; and negative regulation of intestinal lipid absorption. Located in apical plasma membrane. Part of ATP-binding activity cassette (ABC) transporter complex and receptor complex. Implicated in arteriosclerosis and sitosterolemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-binding cassette sub-family G member 5; ATP-binding cassette, sub-family G (WHITE), member 5; ATP-binding cassette, subfamily G, member 5; sterolin 1; sterolin-1; STSL; STSL2
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
GRCh38243,806,211 - 43,839,231 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl243,812,472 - 43,838,865 (-)EnsemblGRCh38hg38GRCh38
GRCh37244,039,611 - 44,065,978 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36243,893,115 - 43,919,462 (-)NCBINCBI36Build 36hg18NCBI36
Build 34243,951,261 - 43,977,609NCBI
Celera243,878,347 - 43,904,690 (-)NCBICelera
Cytogenetic Map2p21NCBI
HuRef243,776,307 - 43,802,654 (-)NCBIHuRef
CHM1_1243,969,007 - 43,995,357 (-)NCBICHM1_1
T2T-CHM13v2.0243,817,805 - 43,844,170 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2,3-trilinolenoylglycerol  (ISO)
1,2,3-trilinoleoylglycerol  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
7-ketocholesterol  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
androst-4-ene-3,17-dione  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atazanavir sulfate  (EXP)
atorvastatin calcium  (ISO)
azathioprine  (ISO)
aztreonam  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bezafibrate  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bosentan  (EXP,ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
chenodeoxycholic acid  (EXP,ISO)
chlorohydrocarbon  (ISO)
cholate  (ISO)
cholesterol  (EXP,ISO)
cholic acid  (EXP,ISO)
chromium(6+)  (ISO)
clavulanic acid  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dehydroepiandrosterone  (EXP)
deoxycholic acid  (EXP,ISO)
dibenz[a,h]anthracene  (ISO)
dichloroacetic acid  (ISO)
diosgenin  (ISO)
doxycycline  (ISO)
epoxiconazole  (ISO)
erythromycin estolate  (ISO)
fenofibrate  (ISO)
fipronil  (ISO)
furan  (ISO)
genistein  (EXP)
glafenine  (ISO)
glyburide  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
guggulsterone  (EXP)
GW 3965  (ISO)
GW 4064  (EXP,ISO)
imipenem hydrate  (ISO)
indole-3-methanol  (ISO)
L-ethionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
lithocholic acid  (EXP,ISO)
lovastatin  (ISO)
metformin  (ISO)
methylmercury chloride  (ISO)
methyltestosterone  (EXP)
mirex  (ISO)
Muraglitazar  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (EXP,ISO)
O-methyleugenol  (EXP)
oltipraz  (ISO)
omeprazole  (ISO)
oxycodone  (ISO)
paracetamol  (EXP)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perhexiline  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
propiconazole  (ISO)
quercetin  (EXP,ISO)
quinolin-8-ol  (EXP)
rotenone  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
spironolactone  (ISO)
stigmasterol  (EXP)
streptozocin  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
tartrazine  (EXP)
tebuconazole  (EXP)
temozolomide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
tianeptine  (ISO)
toluene  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
triolein  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Berge KE, etal., Science 2000 Dec 1;290(5497):1771-5.
2. Down-regulation of hepatic and intestinal Abcg5 and Abcg8 expression associated with altered sterol fluxes in rats with streptozotocin-induced diabetes. Bloks VW, etal., Diabetologia 2004 Jan;47(1):104-12. Epub 2003 Nov 14.
3. The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension. Chen J, etal., BMC Genet. 2005 Jul 18;6:40.
4. Impaired VLDL assembly: a novel mechanism contributing to hepatic lipid accumulation following ovariectomy and high-fat/high-cholesterol diets? Côté I, etal., Br J Nutr. 2014 Nov 28;112(10):1592-600. doi: 10.1017/S0007114514002517. Epub 2014 Sep 29.
5. An atherogenic diet decreases liver FXR gene expression and causes severe hepatic steatosis and hepatic cholesterol accumulation: effect of endurance training. Côté I, etal., Eur J Nutr. 2013 Aug;52(5):1523-32. doi: 10.1007/s00394-012-0459-5. Epub 2012 Nov 2.
6. Effect of a high-fat diet on the hepatic expression of nuclear receptors and their target genes: relevance to drug disposition. Ghoneim RH, etal., Br J Nutr. 2015 Feb 14;113(3):507-16. doi: 10.1017/S0007114514003717. Epub 2015 Jan 23.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Lu K, etal., Am J Hum Genet 2001 Aug;69(2):278-90.
9. Effect of maternal cholestasis and treatment with ursodeoxycholic acid on the expression of genes involved in the secretion of biliary lipids by the neonatal rat liver. Macias RI, etal., Life Sci. 2006 Aug 1;79(10):1014-9. Epub 2006 May 20.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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. Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion. Yu L, etal., Proc Natl Acad Sci U S A 2002 Dec 10;99(25):16237-42. Epub 2002 Nov 20.
Additional References at PubMed
PMID:9727073   PMID:11138003   PMID:11435688   PMID:11590207   PMID:11668628   PMID:11855938   PMID:11907139   PMID:12124998   PMID:12150943   PMID:12208867   PMID:12208868   PMID:12220438  
PMID:12477932   PMID:14504269   PMID:14702039   PMID:14703505   PMID:15121760   PMID:15175352   PMID:15262185   PMID:15311998   PMID:15520451   PMID:15611112   PMID:15816807   PMID:15930516  
PMID:15980630   PMID:16250035   PMID:16472606   PMID:16518588   PMID:16614398   PMID:16870176   PMID:16893193   PMID:16980816   PMID:17055487   PMID:17098593   PMID:17102949   PMID:17403900  
PMID:17474147   PMID:17612515   PMID:17626266   PMID:17632509   PMID:17690481   PMID:17827468   PMID:18007013   PMID:18457353   PMID:18522623   PMID:18581044   PMID:18641716   PMID:18660489  
PMID:18850127   PMID:18996102   PMID:19005228   PMID:19012522   PMID:19019257   PMID:19060911   PMID:19111681   PMID:19217458   PMID:19270375   PMID:19306529   PMID:19343046   PMID:19692220  
PMID:19878569   PMID:19913121   PMID:19917453   PMID:19936222   PMID:19956635   PMID:20170916   PMID:20172523   PMID:20210363   PMID:20370913   PMID:20403997   PMID:20413122   PMID:20497293  
PMID:20521169   PMID:20581104   PMID:20602615   PMID:20628086   PMID:20679960   PMID:20686565   PMID:20855565   PMID:21873635   PMID:22655090   PMID:22898925   PMID:23179156   PMID:23556150  
PMID:23790976   PMID:24097068   PMID:24252657   PMID:24498041   PMID:24584735   PMID:24623560   PMID:24657701   PMID:24691589   PMID:24811295   PMID:26088706   PMID:26892138   PMID:27052530  
PMID:27144356   PMID:27170062   PMID:27981300   PMID:28521186   PMID:28625976   PMID:28696550   PMID:29066094   PMID:29920211   PMID:31327807   PMID:31901240   PMID:32088153   PMID:32166861  
PMID:32275988   PMID:32546081   PMID:32705597   PMID:32862661   PMID:33228147   PMID:33395105   PMID:33807969   PMID:34310734   PMID:34510707   PMID:35549507   PMID:35988751  


Genomics

Comparative Map Data
ABCG5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38243,806,211 - 43,839,231 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl243,812,472 - 43,838,865 (-)EnsemblGRCh38hg38GRCh38
GRCh37244,039,611 - 44,065,978 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36243,893,115 - 43,919,462 (-)NCBINCBI36Build 36hg18NCBI36
Build 34243,951,261 - 43,977,609NCBI
Celera243,878,347 - 43,904,690 (-)NCBICelera
Cytogenetic Map2p21NCBI
HuRef243,776,307 - 43,802,654 (-)NCBIHuRef
CHM1_1243,969,007 - 43,995,357 (-)NCBICHM1_1
T2T-CHM13v2.0243,817,805 - 43,844,170 (-)NCBIT2T-CHM13v2.0
Abcg5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391784,965,602 - 84,990,439 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1784,965,662 - 84,990,439 (-)EnsemblGRCm39 Ensembl
GRCm381784,658,174 - 84,683,011 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1784,658,234 - 84,683,011 (-)EnsemblGRCm38mm10GRCm38
MGSCv371785,057,574 - 85,082,263 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361784,566,560 - 84,591,249 (-)NCBIMGSCv36mm8
Celera1789,024,999 - 89,050,375 (-)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1755.02NCBI
Abcg5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.269,965,118 - 9,990,563 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl69,965,118 - 9,990,563 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx610,253,680 - 10,285,836 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0610,563,072 - 10,595,227 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0610,084,742 - 10,110,340 (+)NCBIRnor_WKY
Rnor_6.067,935,771 - 7,961,207 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl67,935,771 - 7,961,207 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.067,871,269 - 7,896,799 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.468,027,647 - 8,064,425 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.168,027,646 - 8,064,425 (-)NCBI
Celera69,686,706 - 9,712,114 (+)NCBICelera
Cytogenetic Map6q12NCBI
Abcg5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544110,964,858 - 10,986,967 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544110,964,588 - 10,987,771 (-)NCBIChiLan1.0ChiLan1.0
ABCG5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A44,745,183 - 44,771,012 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A44,745,183 - 44,771,012 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A43,896,188 - 43,922,756 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ABCG5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11046,261,747 - 46,300,084 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1046,271,772 - 46,299,773 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1046,123,805 - 46,173,246 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01047,140,680 - 47,190,102 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1047,151,472 - 47,178,440 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11046,849,037 - 46,898,531 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01047,138,987 - 47,188,120 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01047,322,375 - 47,371,811 (-)NCBIUU_Cfam_GSD_1.0
Abcg5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629236,665,097 - 36,688,553 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365088,093,804 - 8,116,877 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365088,093,804 - 8,117,467 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCG5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl396,616,246 - 96,656,889 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1396,616,304 - 96,656,893 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23102,776,822 - 102,782,661 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCG5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11463,414,241 - 63,439,193 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1463,413,691 - 63,438,917 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604548,447,921 - 48,472,592 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcg5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473825,287,841 - 25,309,828 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473825,287,574 - 25,310,643 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCG5
305 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1967
Count of miRNA genes:571
Interacting mature miRNAs:626
Transcripts:ENST00000260645, ENST00000405322, ENST00000409962, ENST00000486512, ENST00000543989
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D2S1788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37236,260,306 - 36,260,495UniSTSGRCh37
Build 36236,113,810 - 36,113,999RGDNCBI36
Celera236,096,307 - 36,096,496RGD
Cytogenetic Map2p21UniSTS
Cytogenetic Map2p22.3-p21UniSTS
HuRef235,993,843 - 35,994,000UniSTS
Marshfield Genetic Map255.51UniSTS
Marshfield Genetic Map255.51RGD
Whitehead-YAC Contig Map2 UniSTS
D2S1352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,833,714 - 50,833,825UniSTSGRCh37
Build 36250,687,218 - 50,687,329RGDNCBI36
Celera250,673,846 - 50,673,963RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef250,567,858 - 50,567,975UniSTS
Marshfield Genetic Map273.61UniSTS
Marshfield Genetic Map273.61RGD
Whitehead-YAC Contig Map2 UniSTS
RH70461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,040,043 - 44,040,208UniSTSGRCh37
Build 36243,893,547 - 43,893,712RGDNCBI36
Celera243,878,779 - 43,878,944RGD
Cytogenetic Map2p21UniSTS
HuRef243,776,739 - 43,776,904UniSTS
GeneMap99-GB4 RH Map2130.01UniSTS
NCBI RH Map2291.6UniSTS
RH27092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,046,725 - 44,046,928UniSTSGRCh37
Build 36243,900,229 - 43,900,432RGDNCBI36
Celera243,885,461 - 43,885,664RGD
Cytogenetic Map2p21UniSTS
HuRef243,783,421 - 43,783,624UniSTS
ABCG5_2000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,039,574 - 44,040,306UniSTSGRCh37
Build 36243,893,078 - 43,893,810RGDNCBI36
Celera243,878,310 - 43,879,042RGD
HuRef243,776,270 - 43,777,002UniSTS
RH70519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,046,699 - 44,046,859UniSTSGRCh37
Build 36243,900,203 - 43,900,363RGDNCBI36
Celera243,885,435 - 43,885,595RGD
Cytogenetic Map2p21UniSTS
HuRef243,783,395 - 43,783,555UniSTS
GeneMap99-GB4 RH Map2130.63UniSTS
NCBI RH Map2291.6UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 8 401 401 5 401 1
Low 176 13 50 28 181 29 40 4 109 90 148 16 10 3
Below cutoff 2039 2342 1213 176 820 21 3760 1732 3478 246 1194 1338 158 1147 2386 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF312715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF320293 (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
  AK091997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000405322   ⟹   ENSP00000384513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,812,472 - 43,838,839 (-)Ensembl
RefSeq Acc Id: ENST00000409962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,812,843 - 43,838,865 (-)Ensembl
RefSeq Acc Id: ENST00000486512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,812,560 - 43,838,750 (-)Ensembl
RefSeq Acc Id: ENST00000644754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,812,560 - 43,838,752 (-)Ensembl
RefSeq Acc Id: NM_022436   ⟹   NP_071881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,838,839 (-)NCBI
GRCh37244,039,611 - 44,066,039 (-)NCBI
Build 36243,893,115 - 43,919,462 (-)NCBI Archive
HuRef243,776,307 - 43,802,654 (-)ENTREZGENE
CHM1_1243,969,007 - 43,995,357 (-)NCBI
T2T-CHM13v2.0243,817,805 - 43,844,170 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264480   ⟹   XP_005264537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,838,839 (-)NCBI
GRCh37244,039,611 - 44,066,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712073   ⟹   XP_006712136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,806,211 - 43,838,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712074   ⟹   XP_006712137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,824,466 - 43,838,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533024   ⟹   XP_011531326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,838,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533025   ⟹   XP_011531327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,838,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533026   ⟹   XP_011531328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,838,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533027   ⟹   XP_011531329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,838,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533028   ⟹   XP_011531330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,828,071 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445409   ⟹   XP_047301365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,839,231 (-)NCBI
RefSeq Acc Id: XM_047445410   ⟹   XP_047301366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,806,211 - 43,838,839 (-)NCBI
RefSeq Acc Id: XM_047445411   ⟹   XP_047301367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,838,839 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_071881   ⟸   NM_022436
- UniProtKB: Q96QZ3 (UniProtKB/Swiss-Prot),   Q9H222 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264537   ⟸   XM_005264480
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006712136   ⟸   XM_006712073
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006712137   ⟸   XM_006712074
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011531327   ⟸   XM_011533025
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011531329   ⟸   XM_011533027
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011531328   ⟸   XM_011533026
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011531326   ⟸   XM_011533024
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011531330   ⟸   XM_011533028
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000384513   ⟸   ENST00000405322
RefSeq Acc Id: XP_047301366   ⟸   XM_047445410
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047301365   ⟸   XM_047445409
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047301367   ⟸   XM_047445411
- Peptide Label: isoform X8
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H222-F1-model_v2 AlphaFold Q9H222 1-651 view protein structure

Promoters
RGD ID:6860194
Promoter ID:EPDNEW_H3262
Type:initiation region
Name:ABCG5_1
Description:ATP binding cassette subfamily G member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3264  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,838,839 - 43,838,899EPDNEW
RGD ID:6860198
Promoter ID:EPDNEW_H3264
Type:initiation region
Name:ABCG5_2
Description:ATP binding cassette subfamily G member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3262  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,839,258 - 43,839,318EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) single nucleotide variant Sitosterolemia 1 [RCV002225074]|Sitosterolemia 2 [RCV000856568]|Sitosterolemia [RCV000023442]|not provided [RCV001508988] Chr2:43822924 [GRCh38]
Chr2:44050063 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) single nucleotide variant Sitosterolemia 2 [RCV000005264]|not provided [RCV001727512] Chr2:43824015 [GRCh38]
Chr2:44051154 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter) single nucleotide variant Sitosterolemia 2 [RCV000005265] Chr2:43826429 [GRCh38]
Chr2:44053568 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1256G>A (p.Arg419His) single nucleotide variant Sitosterolemia 2 [RCV000005266] Chr2:43823981 [GRCh38]
Chr2:44051120 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1256G>C (p.Arg419Pro) single nucleotide variant Sitosterolemia 2 [RCV000005267] Chr2:43823981 [GRCh38]
Chr2:44051120 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) single nucleotide variant Sitosterolemia 2 [RCV000005268]|Sitosterolemia [RCV001232197]|not provided [RCV002223753] Chr2:43824071 [GRCh38]
Chr2:44051210 [GRCh37]
Chr2:2p21
pathogenic|likely 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.392A>G (p.Tyr131Cys) single nucleotide variant Sitosterolemia 2 [RCV001263007]|Sitosterolemia [RCV000823558]|not provided [RCV000729796] Chr2:43831957 [GRCh38]
Chr2:44059096 [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_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_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) single nucleotide variant Sitosterolemia 1 [RCV001141535]|Sitosterolemia [RCV001327110]|Thrombocytopenia [RCV000852063]|not provided [RCV000729611] Chr2:43813202 [GRCh38]
Chr2:44040341 [GRCh37]
Chr2:2p21
uncertain significance
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_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_022436.2(ABCG5):c.1223G>A (p.Arg408Gln) single nucleotide variant Malignant melanoma [RCV000060572] Chr2:43824014 [GRCh38]
Chr2:44051153 [GRCh37]
Chr2:43904657 [NCBI36]
Chr2:2p21
not provided
NM_022436.3(ABCG5):c.1763-7T>G single nucleotide variant Sitosterolemia [RCV000972643]|not provided [RCV001589053]|not specified [RCV000174594] Chr2:43813316 [GRCh38]
Chr2:44040455 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) single nucleotide variant Sitosterolemia 1 [RCV001141536]|Sitosterolemia [RCV000624964]|not provided [RCV001706120]|not specified [RCV000174593] Chr2:43813208 [GRCh38]
Chr2:44040347 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|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.431T>C (p.Val144Ala) single nucleotide variant Sitosterolemia [RCV001852210]|not provided [RCV000178338] Chr2:43831839 [GRCh38]
Chr2:44058978 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1284C>T (p.Gly428_Ala429=) single nucleotide variant Sitosterolemia [RCV001510514]|not provided [RCV000884262]|not specified [RCV000180678] Chr2:43823953 [GRCh38]
Chr2:44051092 [GRCh37]
Chr2:2p21
benign|likely benign|uncertain significance
NM_022436.3(ABCG5):c.1850C>G (p.Thr617Arg) single nucleotide variant Sitosterolemia 1 [RCV000262827] Chr2:43813222 [GRCh38]
Chr2:44040361 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) single nucleotide variant Sitosterolemia 1 [RCV001094625]|Sitosterolemia [RCV000264039]|not provided [RCV001729550]|not specified [RCV001729551] Chr2:43838653 [GRCh38]
Chr2:44065792 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) single nucleotide variant Sitosterolemia 1 [RCV000367922]|Sitosterolemia [RCV002059307]|not provided [RCV000263615] Chr2:43814495 [GRCh38]
Chr2:44041634 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.978del (p.Glu326fs) deletion Sitosterolemia [RCV000208063] Chr2:43824359 [GRCh38]
Chr2:44051498 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_022436.3(ABCG5):c.1068C>A (p.Phe356Leu) single nucleotide variant not provided [RCV000595850] Chr2:43824269 [GRCh38]
Chr2:44051408 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) single nucleotide variant Sitosterolemia 1 [RCV001094624]|Thrombocytopenia [RCV000852225]|not provided [RCV000384239]|not specified [RCV001699095] Chr2:43838600 [GRCh38]
Chr2:44065739 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter) single nucleotide variant Asphyxiating thoracic dystrophy 1 [RCV000754098]|Short-rib thoracic dysplasia 15 with polydactyly [RCV000239685] Chr2:43809711 [GRCh38]
Chr2:44036850 [GRCh37]
Chr2:2p21
pathogenic
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_022436.3(ABCG5):c.1569C>T (p.Ile523_Val524=) single nucleotide variant Sitosterolemia 1 [RCV000273431]|Sitosterolemia [RCV002057696] Chr2:43819995 [GRCh38]
Chr2:44047134 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.*416G>A single nucleotide variant Sitosterolemia 1 [RCV000396945] Chr2:43812700 [GRCh38]
Chr2:44039839 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile) single nucleotide variant Sitosterolemia 1 [RCV000333591]|Sitosterolemia [RCV001497092] Chr2:43822849 [GRCh38]
Chr2:44049988 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.1873C>G (p.Leu625Val) single nucleotide variant Sitosterolemia 1 [RCV000353041] Chr2:43813199 [GRCh38]
Chr2:44040338 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys) single nucleotide variant Sitosterolemia 1 [RCV000376487] Chr2:43824255 [GRCh38]
Chr2:44051394 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.785A>G (p.Lys262Arg) single nucleotide variant Sitosterolemia 1 [RCV001094667]|Sitosterolemia [RCV000301047]|not provided [RCV001706549] Chr2:43825008 [GRCh38]
Chr2:44052147 [GRCh37]
Chr2:2p21
benign|likely benign
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_022436.3(ABCG5):c.*399C>T single nucleotide variant Sitosterolemia 1 [RCV000302415] Chr2:43812717 [GRCh38]
Chr2:44039856 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu) single nucleotide variant Sitosterolemia 1 [RCV000336129] Chr2:43824893 [GRCh38]
Chr2:44052032 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) single nucleotide variant Sitosterolemia 1 [RCV001094717]|Sitosterolemia [RCV000318037]|not provided [RCV001594969]|not specified [RCV000591475] Chr2:43813262 [GRCh38]
Chr2:44040401 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.775-10G>T single nucleotide variant Sitosterolemia 1 [RCV001094668]|Sitosterolemia [RCV000337396]|not provided [RCV001569904]|not specified [RCV001821014] Chr2:43825028 [GRCh38]
Chr2:44052167 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.*592G>A single nucleotide variant Sitosterolemia 1 [RCV000405062] Chr2:43812524 [GRCh38]
Chr2:44039663 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met) single nucleotide variant Sitosterolemia 1 [RCV000290288]|Sitosterolemia [RCV001209660] Chr2:43824074 [GRCh38]
Chr2:44051213 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*380T>G single nucleotide variant Sitosterolemia 1 [RCV000361261]|not provided [RCV001613094] Chr2:43812736 [GRCh38]
Chr2:44039875 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1180C>T (p.Leu394_Ile395=) single nucleotide variant Sitosterolemia 1 [RCV000384440] Chr2:43824057 [GRCh38]
Chr2:44051196 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*522G>A single nucleotide variant Sitosterolemia 1 [RCV000291765] Chr2:43812594 [GRCh38]
Chr2:44039733 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln) single nucleotide variant Sitosterolemia 1 [RCV000362294]|Sitosterolemia [RCV001865220]|not provided [RCV000523427] Chr2:43837917 [GRCh38]
Chr2:44065056 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1365C>T (p.Asp455_Gly456=) single nucleotide variant Sitosterolemia 1 [RCV001094751]|Sitosterolemia [RCV000388056]|not provided [RCV000598247]|not specified [RCV001729549] Chr2:43822895 [GRCh38]
Chr2:44050034 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile) single nucleotide variant Sitosterolemia 1 [RCV000325467]|Sitosterolemia [RCV001861152] Chr2:43823979 [GRCh38]
Chr2:44051118 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*621C>T single nucleotide variant Sitosterolemia 1 [RCV000345312] Chr2:43812495 [GRCh38]
Chr2:44039634 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*511C>A single nucleotide variant Sitosterolemia 1 [RCV000346640] Chr2:43812605 [GRCh38]
Chr2:44039744 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*622C>T single nucleotide variant Sitosterolemia 1 [RCV000295200] Chr2:43812494 [GRCh38]
Chr2:44039633 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.610G>A (p.Ala204Thr) single nucleotide variant Sitosterolemia 1 [RCV000311727] Chr2:43828007 [GRCh38]
Chr2:44055146 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*285G>C single nucleotide variant Sitosterolemia 1 [RCV000298190]|not provided [RCV001556599] Chr2:43812831 [GRCh38]
Chr2:44039970 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr) single nucleotide variant Sitosterolemia 1 [RCV000395583] Chr2:43824990 [GRCh38]
Chr2:44052129 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1458C>T (p.Cys486_Tyr487=) single nucleotide variant not provided [RCV000303452] Chr2:43822802 [GRCh38]
Chr2:44049941 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) single nucleotide variant Hyperuricemic nephropathy, familial juvenile type 4 [RCV001836763]|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_022436.3(ABCG5):c.905-3dup duplication Sitosterolemia [RCV000285767]|not provided [RCV000899760] Chr2:43824434..43824435 [GRCh38]
Chr2:44051573..44051574 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile) single nucleotide variant Sitosterolemia 1 [RCV001143371]|Sitosterolemia [RCV001859607]|not provided [RCV000310689]|not specified [RCV001729505] Chr2:43819994 [GRCh38]
Chr2:44047133 [GRCh37]
Chr2:2p21
benign|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_022436.3(ABCG5):c.804C>T (p.Phe268_Gly269=) single nucleotide variant Sitosterolemia 1 [RCV001139040]|not provided [RCV000383896] Chr2:43824989 [GRCh38]
Chr2:44052128 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.408C>T (p.Asp136=) single nucleotide variant not provided [RCV000280097] Chr2:43831862 [GRCh38]
Chr2:44059001 [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_022436.3(ABCG5):c.957C>T (p.Ser319_Lys320=) single nucleotide variant Sitosterolemia [RCV001078882]|not provided [RCV000384289]|not specified [RCV001820836] Chr2:43824380 [GRCh38]
Chr2:44051519 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) single nucleotide variant Sitosterolemia 1 [RCV001141657]|not provided [RCV000386077] Chr2:43828106 [GRCh38]
Chr2:44055245 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1446C>T (p.Phe482_Ser483=) single nucleotide variant Sitosterolemia [RCV002059303]|not provided [RCV000350093] Chr2:43822814 [GRCh38]
Chr2:44049953 [GRCh37]
Chr2:2p21
likely benign|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_022436.3(ABCG5):c.265+10G>A single nucleotide variant Sitosterolemia [RCV001424239]|not provided [RCV000285579] Chr2:43837824 [GRCh38]
Chr2:44064963 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.834G>A (p.Ala278_Glu279=) single nucleotide variant not provided [RCV000355005] Chr2:43824959 [GRCh38]
Chr2:44052098 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) single nucleotide variant Sitosterolemia 1 [RCV001141655]|Sitosterolemia [RCV000986627]|not provided [RCV000658134]|not specified [RCV000286622] Chr2:43828024 [GRCh38]
Chr2:44055163 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.696C>T (p.Val232_Val233=) single nucleotide variant Sitosterolemia 1 [RCV001139041]|Sitosterolemia [RCV000972441]|not provided [RCV001582908]|not specified [RCV000286899] Chr2:43826460 [GRCh38]
Chr2:44053599 [GRCh37]
Chr2:2p21
benign|likely benign|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_022436.3(ABCG5):c.1320T>A (p.Asn440Lys) single nucleotide variant Sitosterolemia [RCV001859706]|not provided [RCV000261065] Chr2:43823917 [GRCh38]
Chr2:44051056 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.501+11dup duplication Sitosterolemia [RCV002062016]|not provided [RCV001557582]|not specified [RCV000597783] Chr2:43831752..43831753 [GRCh38]
Chr2:44058891..44058892 [GRCh37]
Chr2:2p21
benign|likely benign
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_022436.3(ABCG5):c.1621G>T (p.Gly541Trp) single nucleotide variant not provided [RCV000596053] Chr2:43819943 [GRCh38]
Chr2:44047082 [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_022436.3(ABCG5):c.570G>A (p.Leu190_Gly191=) single nucleotide variant Sitosterolemia 1 [RCV000371072] Chr2:43828047 [GRCh38]
Chr2:44055186 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-118A>C single nucleotide variant Sitosterolemia 1 [RCV001094673]|Sitosterolemia [RCV000274880]|not provided [RCV001551421] Chr2:43838797 [GRCh38]
Chr2:44065936 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.1155A>G (p.Ala385_Val386=) single nucleotide variant Sitosterolemia 1 [RCV000340544] Chr2:43824082 [GRCh38]
Chr2:44051221 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) single nucleotide variant Sitosterolemia 1 [RCV001094756]|Sitosterolemia [RCV000272378]|not provided [RCV001723873]|not specified [RCV000365368] Chr2:43837951 [GRCh38]
Chr2:44065090 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.715G>A (p.Ala239Thr) single nucleotide variant Sitosterolemia 1 [RCV000395592] Chr2:43826441 [GRCh38]
Chr2:44053580 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*357dup duplication Sitosterolemia [RCV000396950] Chr2:43812758..43812759 [GRCh38]
Chr2:44039897..44039898 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1108G>A (p.Val370Ile) single nucleotide variant not provided [RCV000596353] Chr2:43824229 [GRCh38]
Chr2:44051368 [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_022436.3(ABCG5):c.1347C>T (p.Ser449_Asp450=) single nucleotide variant Sitosterolemia [RCV002062077]|not specified [RCV000593902] Chr2:43822913 [GRCh38]
Chr2:44050052 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.751C>G (p.Gln251Glu) single nucleotide variant not provided [RCV000730071] Chr2:43826405 [GRCh38]
Chr2:44053544 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.598C>G (p.Arg200Gly) single nucleotide variant not provided [RCV000591789] Chr2:43828019 [GRCh38]
Chr2:44055158 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1251G>A (p.Gln417_Asp418=) single nucleotide variant Sitosterolemia 1 [RCV001136801]|Sitosterolemia [RCV000907220]|not provided [RCV001551376]|not specified [RCV000591881] Chr2:43823986 [GRCh38]
Chr2:44051125 [GRCh37]
Chr2:2p21
benign|likely benign|uncertain significance
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln) single nucleotide variant Sitosterolemia [RCV001854093]|not provided [RCV000592725] Chr2:43828018 [GRCh38]
Chr2:44055157 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.595C>T (p.Arg199Cys) single nucleotide variant not provided [RCV000597615] Chr2:43828022 [GRCh38]
Chr2:44055161 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.758G>A (p.Arg253His) single nucleotide variant not provided [RCV000592979] Chr2:43826398 [GRCh38]
Chr2:44053537 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val) single nucleotide variant Sitosterolemia [RCV001867979]|not provided [RCV000593479] Chr2:43838568 [GRCh38]
Chr2:44065707 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1602G>C (p.Val534_Ala535=) single nucleotide variant not provided [RCV000591280] Chr2:43819962 [GRCh38]
Chr2:44047101 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1904T>C (p.Val635Ala) single nucleotide variant Sitosterolemia 1 [RCV001138937] Chr2:43813168 [GRCh38]
Chr2:44040307 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.897C>T (p.Asp299_Phe300=) single nucleotide variant Sitosterolemia [RCV000969158]|not specified [RCV000591479] Chr2:43824896 [GRCh38]
Chr2:44052035 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser) single nucleotide variant Sitosterolemia [RCV000764409]|not provided [RCV000591537] Chr2:43814506 [GRCh38]
Chr2:44041645 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) single nucleotide variant Sitosterolemia [RCV001360094]|not provided [RCV000731012] Chr2:43820036 [GRCh38]
Chr2:44047175 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile) single nucleotide variant Sitosterolemia 2 [RCV002280885]|Sitosterolemia [RCV001855650]|not provided [RCV000731084] Chr2:43838541 [GRCh38]
Chr2:44065680 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) single nucleotide variant not provided [RCV000733037] Chr2:43824066 [GRCh38]
Chr2:44051205 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.634+3A>G single nucleotide variant Sitosterolemia [RCV001364909]|not provided [RCV000734338] Chr2:43827980 [GRCh38]
Chr2:44055119 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1500A>G (p.Gly500_Tyr501=) single nucleotide variant not provided [RCV000735033] Chr2:43820064 [GRCh38]
Chr2:44047203 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1682TCA[3] (p.Ile562_Ser563insIle) microsatellite not provided [RCV000735075] Chr2:43814551..43814552 [GRCh38]
Chr2:44041690..44041691 [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_022436.3(ABCG5):c.1059G>A (p.Met353Ile) single nucleotide variant not provided [RCV000735180] Chr2:43824278 [GRCh38]
Chr2:44051417 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.403-5T>G single nucleotide variant not provided [RCV000730096] Chr2:43831872 [GRCh38]
Chr2:44059011 [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 Sitosterolemia [RCV002067146]|not provided [RCV000733189] Chr2:43838581 [GRCh38]
Chr2:44065720 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg) single nucleotide variant not provided [RCV000731406] Chr2:43814528 [GRCh38]
Chr2:44041667 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1806C>T (p.Phe602_Thr603=) single nucleotide variant Sitosterolemia 1 [RCV001141537]|Sitosterolemia [RCV000958290]|not provided [RCV001709687]|not specified [RCV000728857] Chr2:43813266 [GRCh38]
Chr2:44040405 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022436.3(ABCG5):c.411C>T (p.Thr137=) single nucleotide variant not provided [RCV000734595] Chr2:43831859 [GRCh38]
Chr2:44058998 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.442C>T (p.Leu148=) single nucleotide variant Sitosterolemia 1 [RCV001141659]|Sitosterolemia [RCV001523024]|not provided [RCV000734052] Chr2:43831828 [GRCh38]
Chr2:44058967 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022436.3(ABCG5):c.1354G>C (p.Glu452Gln) single nucleotide variant not provided [RCV000733462] Chr2:43822906 [GRCh38]
Chr2:44050045 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1950C>T (p.Ser650_Arg651=) single nucleotide variant not provided [RCV000733516] Chr2:43813122 [GRCh38]
Chr2:44040261 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1358G>C (p.Ser453Thr) single nucleotide variant not provided [RCV000734188] Chr2:43822902 [GRCh38]
Chr2:44050041 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1707A>C (p.Lys569Asn) single nucleotide variant not provided [RCV000734771] Chr2:43814532 [GRCh38]
Chr2:44041671 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.915G>A (p.Thr305_Ser306=) single nucleotide variant Sitosterolemia [RCV001401108]|not provided [RCV000732701] Chr2:43824422 [GRCh38]
Chr2:44051561 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.550C>T (p.Leu184_Ile185=) single nucleotide variant not provided [RCV000733583] Chr2:43828067 [GRCh38]
Chr2:44055206 [GRCh37]
Chr2:2p21
uncertain significance
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_022436.3(ABCG5):c.658A>G (p.Thr220Ala) single nucleotide variant not provided [RCV000731824] Chr2:43826498 [GRCh38]
Chr2:44053637 [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_022436.3(ABCG5):c.828G>A (p.Thr276_Pro277=) single nucleotide variant not provided [RCV000729310] Chr2:43824965 [GRCh38]
Chr2:44052104 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.502-11_502-10del microsatellite not provided [RCV000731929] Chr2:43828125..43828126 [GRCh38]
Chr2:44055264..44055265 [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.1770A>C (p.Ser590_Asn591=) single nucleotide variant not provided [RCV000734256] Chr2:43813302 [GRCh38]
Chr2:44040441 [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_022436.3(ABCG5):c.850T>C (p.Phe284Leu) single nucleotide variant not provided [RCV000728101] Chr2:43824943 [GRCh38]
Chr2:44052082 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1311C>T (p.Asn437_Ala438=) single nucleotide variant Sitosterolemia [RCV002067096]|not provided [RCV000729467] Chr2:43823926 [GRCh38]
Chr2:44051065 [GRCh37]
Chr2:2p21
likely benign|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 Hereditary nonpolyposis colorectal neoplasms [RCV002231155] 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 deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_022436.3(ABCG5):c.1398C>T (p.Ala466_Tyr467=) single nucleotide variant not provided [RCV000595762] Chr2:43822862 [GRCh38]
Chr2:44050001 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.510C>T (p.Ala170_Val171=) single nucleotide variant Sitosterolemia [RCV001455111]|not provided [RCV000594544] Chr2:43828107 [GRCh38]
Chr2:44055246 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.403-1G>A single nucleotide variant not provided [RCV000594338] Chr2:43831868 [GRCh38]
Chr2:44059007 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.780T>C (p.Phe260_Asp261=) single nucleotide variant Sitosterolemia [RCV001462661]|not provided [RCV000595218] Chr2:43825013 [GRCh38]
Chr2:44052152 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.403-2A>G single nucleotide variant not provided [RCV000595343] Chr2:43831869 [GRCh38]
Chr2:44059008 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1410C>T (p.His470_Val471=) single nucleotide variant Sitosterolemia [RCV001471046]|not provided [RCV000635391] Chr2:43822850 [GRCh38]
Chr2:44049989 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1255C>T (p.Arg419Cys) single nucleotide variant not provided [RCV000596623] Chr2:43823982 [GRCh38]
Chr2:44051121 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1492C>T (p.Arg498Ter) single nucleotide variant not provided [RCV000597042] Chr2:43820072 [GRCh38]
Chr2:44047211 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) single nucleotide variant Sitosterolemia 1 [RCV001143372]|Sitosterolemia [RCV001521409]|not provided [RCV001584407]|not specified [RCV000595235] Chr2:43819997 [GRCh38]
Chr2:44047136 [GRCh37]
Chr2:2p21
benign|likely benign|uncertain significance
NM_022436.3(ABCG5):c.1528C>G (p.His510Asp) single nucleotide variant not provided [RCV000595595] Chr2:43820036 [GRCh38]
Chr2:44047175 [GRCh37]
Chr2:2p21
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 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_022436.3(ABCG5):c.1463+319C>G single nucleotide variant not provided [RCV001692479] Chr2:43822478 [GRCh38]
Chr2:44049617 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1463+64G>A single nucleotide variant not provided [RCV001645943] Chr2:43822733 [GRCh38]
Chr2:44049872 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.265+189C>T single nucleotide variant not provided [RCV001534204] Chr2:43837645 [GRCh38]
Chr2:44064784 [GRCh37]
Chr2:2p21
benign
NM_016008.4(DYNC2LI1):c.*16T>C single nucleotide variant not provided [RCV001690626] Chr2:43809783 [GRCh38]
Chr2:44036922 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1762+337G>A single nucleotide variant not provided [RCV001647845] Chr2:43814140 [GRCh38]
Chr2:44041279 [GRCh37]
Chr2:2p21
benign
NM_016008.4(DYNC2LI1):c.*7T>C single nucleotide variant not provided [RCV001611988] Chr2:43809774 [GRCh38]
Chr2:44036913 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.*72G>A single nucleotide variant not provided [RCV001547473] Chr2:43813044 [GRCh38]
Chr2:44040183 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1324+164C>T single nucleotide variant not provided [RCV001645564] Chr2:43823749 [GRCh38]
Chr2:44050888 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.774+215dup duplication not provided [RCV001547271] Chr2:43826166..43826167 [GRCh38]
Chr2:44053305..44053306 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) single nucleotide variant Sitosterolemia 1 [RCV001136802]|Sitosterolemia [RCV000967650]|not provided [RCV001551444]|not specified [RCV001819078] Chr2:43824009 [GRCh38]
Chr2:44051148 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser) single nucleotide variant Sitosterolemia [RCV000901064] Chr2:43822894 [GRCh38]
Chr2:44050033 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1128A>G (p.Thr376_Arg377=) single nucleotide variant Sitosterolemia [RCV001497202]|not provided [RCV000982955] Chr2:43824109 [GRCh38]
Chr2:44051248 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1197C>T (p.Phe399_Leu400=) single nucleotide variant Sitosterolemia [RCV000983568] Chr2:43824040 [GRCh38]
Chr2:44051179 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser) single nucleotide variant Sitosterolemia 1 [RCV001143373]|Sitosterolemia [RCV000960558]|not provided [RCV001574207] Chr2:43820014 [GRCh38]
Chr2:44047153 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.775-7T>A single nucleotide variant Sitosterolemia [RCV001405140]|not provided [RCV000944421] Chr2:43825025 [GRCh38]
Chr2:44052164 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp) single nucleotide variant Sitosterolemia [RCV001053780] Chr2:43824021 [GRCh38]
Chr2:44051160 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr) single nucleotide variant Sitosterolemia [RCV001059769] Chr2:43813216 [GRCh38]
Chr2:44040355 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1325-2A>G single nucleotide variant Sitosterolemia [RCV000778618] Chr2:43822937 [GRCh38]
Chr2:44050076 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.775-3C>G single nucleotide variant Thrombocytopenia [RCV000852214] Chr2:43825021 [GRCh38]
Chr2:44052160 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1838G>A (p.Cys613Tyr) single nucleotide variant Sitosterolemia [RCV000796214] Chr2:43813234 [GRCh38]
Chr2:44040373 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44024281-44136423)x1 copy number loss not provided [RCV000847791] Chr2:44024281..44136423 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) single nucleotide variant Sitosterolemia 1 [RCV001136896]|Sitosterolemia [RCV001512079]|not provided [RCV002261289] Chr2:43838541 [GRCh38]
Chr2:44065680 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022436.3(ABCG5):c.1196T>G (p.Phe399Cys) single nucleotide variant Sitosterolemia 1 [RCV001136803] Chr2:43824041 [GRCh38]
Chr2:44051180 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1118+13C>G single nucleotide variant Sitosterolemia 1 [RCV001136804]|Sitosterolemia [RCV001856744] Chr2:43824206 [GRCh38]
Chr2:44051345 [GRCh37]
Chr2:2p21
likely benign|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_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.-85A>C single nucleotide variant Sitosterolemia 1 [RCV001139137] Chr2:43838764 [GRCh38]
Chr2:44065903 [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_022436.3(ABCG5):c.*225G>T single nucleotide variant Sitosterolemia 1 [RCV001138935] Chr2:43812891 [GRCh38]
Chr2:44040030 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*153C>A single nucleotide variant Sitosterolemia 1 [RCV001138936] Chr2:43812963 [GRCh38]
Chr2:44040102 [GRCh37]
Chr2:2p21
uncertain significance
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.1537G>C (p.Gly513Arg) single nucleotide variant Sitosterolemia [RCV001047225] Chr2:43820027 [GRCh38]
Chr2:44047166 [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_022436.3(ABCG5):c.403-8T>C single nucleotide variant Sitosterolemia [RCV001067183] Chr2:43831875 [GRCh38]
Chr2:44059014 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1620G>A (p.Ala540_Gly541=) single nucleotide variant Sitosterolemia [RCV001222337] Chr2:43819944 [GRCh38]
Chr2:44047083 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter) single nucleotide variant Sitosterolemia 2 [RCV001534613]|not provided [RCV000997120] Chr2:43822886 [GRCh38]
Chr2:44050025 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_022436.3(ABCG5):c.692T>C (p.Ile231Thr) single nucleotide variant Abnormal bleeding [RCV001270500]|not provided [RCV000997121] Chr2:43826464 [GRCh38]
Chr2:44053603 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1631T>A (p.Val544Asp) single nucleotide variant not provided [RCV001092626] Chr2:43819933 [GRCh38]
Chr2:44047072 [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_022436.3(ABCG5):c.575del (p.Gly192fs) deletion Sitosterolemia 1 [RCV002245833]|not provided [RCV001008401] Chr2:43828042 [GRCh38]
Chr2:44055181 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_022436.3(ABCG5):c.1768T>C (p.Ser590Pro) single nucleotide variant Sitosterolemia 1 [RCV001141538] Chr2:43813304 [GRCh38]
Chr2:44040443 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.774+198C>A single nucleotide variant not provided [RCV001546640] Chr2:43826184 [GRCh38]
Chr2:44053323 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1324+242G>C single nucleotide variant not provided [RCV001596099] Chr2:43823671 [GRCh38]
Chr2:44050810 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1464-291G>A single nucleotide variant not provided [RCV001715767] Chr2:43820391 [GRCh38]
Chr2:44047530 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.774+73T>A single nucleotide variant not provided [RCV001550290] Chr2:43826309 [GRCh38]
Chr2:44053448 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1463+318dup duplication not provided [RCV001674170] Chr2:43822478..43822479 [GRCh38]
Chr2:44049617..44049618 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.502-192C>T single nucleotide variant not provided [RCV001659229] Chr2:43828307 [GRCh38]
Chr2:44055446 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.774+215del deletion not provided [RCV001550695] Chr2:43826167 [GRCh38]
Chr2:44053306 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.774+276C>G single nucleotide variant not provided [RCV001561772] Chr2:43826106 [GRCh38]
Chr2:44053245 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.502-133G>A single nucleotide variant not provided [RCV001674344] Chr2:43828248 [GRCh38]
Chr2:44055387 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.775-259G>A single nucleotide variant not provided [RCV001691287] Chr2:43825277 [GRCh38]
Chr2:44052416 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.904+138T>A single nucleotide variant not provided [RCV001693215] Chr2:43824751 [GRCh38]
Chr2:44051890 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1464-108A>T single nucleotide variant not provided [RCV001620480] Chr2:43820208 [GRCh38]
Chr2:44047347 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1119-30A>G single nucleotide variant not provided [RCV001545806] Chr2:43824148 [GRCh38]
Chr2:44051287 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1649+142G>A single nucleotide variant not provided [RCV001665391] Chr2:43819773 [GRCh38]
Chr2:44046912 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.634+131C>T single nucleotide variant not provided [RCV001620751] Chr2:43827852 [GRCh38]
Chr2:44054991 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1463+318del deletion not provided [RCV001656800] Chr2:43822479 [GRCh38]
Chr2:44049618 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.775-45G>T single nucleotide variant not provided [RCV001710708] Chr2:43825063 [GRCh38]
Chr2:44052202 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1629_1638dup (p.Gly547fs) duplication not provided [RCV001682677] Chr2:43819925..43819926 [GRCh38]
Chr2:44047064..44047065 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.1464-219G>A single nucleotide variant not provided [RCV001547576] Chr2:43820319 [GRCh38]
Chr2:44047458 [GRCh37]
Chr2:2p21
likely benign
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.1337G>A (p.Arg446Gln) single nucleotide variant Sitosterolemia [RCV001046676] Chr2:43822923 [GRCh38]
Chr2:44050062 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1376A>G (p.Gln459Arg) single nucleotide variant Sitosterolemia 1 [RCV001143374] Chr2:43822884 [GRCh38]
Chr2:44050023 [GRCh37]
Chr2:2p21
uncertain significance
NM_016008.4(DYNC2LI1):c.1042G>C (p.Glu348Gln) single nucleotide variant not provided [RCV000958289] Chr2:43809753 [GRCh38]
Chr2:44036892 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1324+73A>T single nucleotide variant not provided [RCV001551257] Chr2:43823840 [GRCh38]
Chr2:44050979 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.774+166T>C single nucleotide variant not provided [RCV001558513] Chr2:43826216 [GRCh38]
Chr2:44053355 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1463+321T>G single nucleotide variant not provided [RCV001559484] Chr2:43822476 [GRCh38]
Chr2:44049615 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.144-45C>A single nucleotide variant not provided [RCV001555972] Chr2:43838000 [GRCh38]
Chr2:44065139 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1463+320del deletion not provided [RCV001621448] Chr2:43822477 [GRCh38]
Chr2:44049616 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.502-256G>A single nucleotide variant not provided [RCV001716400] Chr2:43828371 [GRCh38]
Chr2:44055510 [GRCh37]
Chr2:2p21
benign
NM_016008.4(DYNC2LI1):c.*141T>G single nucleotide variant not provided [RCV001621605] Chr2:43809908 [GRCh38]
Chr2:44037047 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.266-216C>T single nucleotide variant not provided [RCV001698515] Chr2:43832299 [GRCh38]
Chr2:44059438 [GRCh37]
Chr2:2p21
benign
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_022436.3(ABCG5):c.*535C>T single nucleotide variant Sitosterolemia 1 [RCV001136699] Chr2:43812581 [GRCh38]
Chr2:44039720 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.*352T>C single nucleotide variant Sitosterolemia 1 [RCV001138934] Chr2:43812764 [GRCh38]
Chr2:44039903 [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_022436.3(ABCG5):c.1463+198C>T single nucleotide variant not provided [RCV001586911] Chr2:43822599 [GRCh38]
Chr2:44049738 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1463+317_1463+318insC insertion not provided [RCV001645111] Chr2:43822479..43822480 [GRCh38]
Chr2:44049618..44049619 [GRCh37]
Chr2:2p21
benign
NM_016008.4(DYNC2LI1):c.994-44A>G single nucleotide variant not provided [RCV001651862] Chr2:43809661 [GRCh38]
Chr2:44036800 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1463+319_1463+320insGG insertion not provided [RCV001690639] Chr2:43822477..43822478 [GRCh38]
Chr2:44049616..44049617 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1763-114C>G single nucleotide variant not provided [RCV001708140] Chr2:43813423 [GRCh38]
Chr2:44040562 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1763-210T>C single nucleotide variant not provided [RCV001690810] Chr2:43813519 [GRCh38]
Chr2:44040658 [GRCh37]
Chr2:2p21
benign
Single allele deletion Gingival bleeding [RCV001003841] Chr2:44041487..44060795 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met) single nucleotide variant Sitosterolemia 1 [RCV001139039] Chr2:43824966 [GRCh38]
Chr2:44052105 [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.538G>A (p.Val180Met) single nucleotide variant Sitosterolemia 1 [RCV001141656] Chr2:43828079 [GRCh38]
Chr2:44055218 [GRCh37]
Chr2:2p21
uncertain significance
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_022436.3(ABCG5):c.1285G>A (p.Ala429Thr) single nucleotide variant Sitosterolemia [RCV001236399] Chr2:43823952 [GRCh38]
Chr2:44051091 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.635-153_1588del deletion Sitosterolemia [RCV001214157] Chr2:43819976..43826674 [GRCh38]
Chr2:44047115..44053813 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.509C>T (p.Ala170Val) single nucleotide variant Sitosterolemia 1 [RCV001141658] Chr2:43828108 [GRCh38]
Chr2:44055247 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr) single nucleotide variant Sitosterolemia [RCV001214634] Chr2:43824116 [GRCh38]
Chr2:44051255 [GRCh37]
Chr2:2p21
uncertain significance
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_022436.3(ABCG5):c.151G>A (p.Val51Met) single nucleotide variant Sitosterolemia 1 [RCV001143475] Chr2:43837948 [GRCh38]
Chr2:44065087 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
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.55G>C (p.Asp19His) single nucleotide variant Gallbladder disease 4 [RCV000005263]|Sitosterolemia 1 [RCV001094725]|Sitosterolemia [RCV000269126]|not provided [RCV001705581]|not specified [RCV000266053] Chr2:43839108 [GRCh38]
Chr2:44066247 [GRCh37]
Chr2:2p21
pathogenic|risk factor|association|benign|likely benign
NM_022436.3(ABCG5):c.862G>T (p.Gly288Cys) single nucleotide variant Sitosterolemia [RCV001301630] Chr2:43824931 [GRCh38]
Chr2:44052070 [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_022436.3(ABCG5):c.451A>C (p.Thr151Pro) single nucleotide variant Sitosterolemia [RCV001316530] Chr2:43831819 [GRCh38]
Chr2:44058958 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1218G>A (p.Arg406_Val407=) single nucleotide variant Sitosterolemia [RCV001413675] Chr2:43824019 [GRCh38]
Chr2:44051158 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.963A>C (p.Arg321Ser) single nucleotide variant Sitosterolemia [RCV001341916] Chr2:43824374 [GRCh38]
Chr2:44051513 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) single nucleotide variant Sitosterolemia 1 [RCV002245972]|Sitosterolemia 2 [RCV002280904]|Sitosterolemia [RCV001350898] Chr2:43824423 [GRCh38]
Chr2:44051562 [GRCh37]
Chr2:2p21
pathogenic|uncertain significance
NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn) single nucleotide variant Sitosterolemia [RCV001301490] Chr2:43822912 [GRCh38]
Chr2:44050051 [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.832G>A (p.Ala278Thr) single nucleotide variant Sitosterolemia [RCV001361109] Chr2:43824961 [GRCh38]
Chr2:44052100 [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
NM_022436.3(ABCG5):c.1348G>C (p.Asp450His) single nucleotide variant Sitosterolemia [RCV001347684] Chr2:43822912 [GRCh38]
Chr2:44050051 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.634+1G>C single nucleotide variant Sitosterolemia 1 [RCV001336052] Chr2:43827982 [GRCh38]
Chr2:44055121 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.933C>T (p.Ser311_Lys312=) single nucleotide variant Sitosterolemia [RCV001297141] Chr2:43824404 [GRCh38]
Chr2:44051543 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) single nucleotide variant Sitosterolemia [RCV001449803] Chr2:43826405 [GRCh38]
Chr2:44053544 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter) single nucleotide variant Sitosterolemia 1 [RCV001294126] Chr2:43813186 [GRCh38]
Chr2:44040325 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1878T>C (p.Ile626_Leu627=) single nucleotide variant Sitosterolemia [RCV001484763] Chr2:43813194 [GRCh38]
Chr2:44040333 [GRCh37]
Chr2:2p21
likely benign
NC_000002.11:g.(?_44047116)_44053814del deletion Sitosterolemia [RCV001379258]   likely pathogenic
NM_022436.3(ABCG5):c.342T>C (p.Tyr114=) single nucleotide variant Sitosterolemia [RCV001436496] Chr2:43832007 [GRCh38]
Chr2:44059146 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.177T>C (p.Ser59=) single nucleotide variant Sitosterolemia [RCV001449442] Chr2:43837922 [GRCh38]
Chr2:44065061 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.634+1G>A single nucleotide variant Sitosterolemia [RCV001379567] Chr2:43827982 [GRCh38]
Chr2:44055121 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.143+9G>C single nucleotide variant Sitosterolemia [RCV001435005] Chr2:43838528 [GRCh38]
Chr2:44065667 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1324+45C>T single nucleotide variant not provided [RCV001535140] Chr2:43823868 [GRCh38]
Chr2:44051007 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1463+318G>T single nucleotide variant not provided [RCV001586200] Chr2:43822479 [GRCh38]
Chr2:44049618 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.634A>G (p.Lys212Glu) single nucleotide variant not provided [RCV001508989] Chr2:43827983 [GRCh38]
Chr2:44055122 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.502-273A>G single nucleotide variant not provided [RCV001654129] Chr2:43828388 [GRCh38]
Chr2:44055527 [GRCh37]
Chr2:2p21
benign
NM_016008.4(DYNC2LI1):c.994-155A>G single nucleotide variant not provided [RCV001618946] Chr2:43809550 [GRCh38]
Chr2:44036689 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.501+141C>T single nucleotide variant not provided [RCV001592085] Chr2:43831628 [GRCh38]
Chr2:44058767 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1463+287A>C single nucleotide variant not provided [RCV001649799] Chr2:43822510 [GRCh38]
Chr2:44049649 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1650-166A>C single nucleotide variant not provided [RCV001666076] Chr2:43814755 [GRCh38]
Chr2:44041894 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1463+141G>A single nucleotide variant not provided [RCV001688092] Chr2:43822656 [GRCh38]
Chr2:44049795 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1516C>T (p.Leu506Phe) single nucleotide variant not provided [RCV001508987] Chr2:43820048 [GRCh38]
Chr2:44047187 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1775T>C (p.Val592Ala) single nucleotide variant Sitosterolemia [RCV001992790] Chr2:43813297 [GRCh38]
Chr2:44040436 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.296T>G (p.Met99Arg) single nucleotide variant Sitosterolemia 2 [RCV002246205] Chr2:43832053 [GRCh38]
Chr2:44059192 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.403-5T>A single nucleotide variant not provided [RCV001774102] Chr2:43831872 [GRCh38]
Chr2:44059011 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.301G>T (p.Gly101Trp) single nucleotide variant Sitosterolemia [RCV001868473]|not provided [RCV001765800] Chr2:43832048 [GRCh38]
Chr2:44059187 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.775-46C>T single nucleotide variant not provided [RCV001786211] Chr2:43825064 [GRCh38]
Chr2:44052203 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.121C>G (p.Leu41Val) single nucleotide variant not provided [RCV001761283] Chr2:43838559 [GRCh38]
Chr2:44065698 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.774+1G>T single nucleotide variant not provided [RCV001795007] Chr2:43826381 [GRCh38]
Chr2:44053520 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.-76C>T single nucleotide variant Sitosterolemia [RCV001779417] Chr2:43838755 [GRCh38]
Chr2:44065894 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1640G>C (p.Gly547Ala) single nucleotide variant not specified [RCV001822478] Chr2:43819924 [GRCh38]
Chr2:44047063 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.143+7C>T single nucleotide variant Sitosterolemia [RCV001874874] Chr2:43838530 [GRCh38]
Chr2:44065669 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.238C>A (p.Gln80Lys) single nucleotide variant Sitosterolemia [RCV001873908]|not provided [RCV002261396] Chr2:43837861 [GRCh38]
Chr2:44065000 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met) single nucleotide variant Sitosterolemia [RCV001867094] Chr2:43824288 [GRCh38]
Chr2:44051427 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1462T>C (p.Trp488Arg) single nucleotide variant Sitosterolemia [RCV002015930] Chr2:43822798 [GRCh38]
Chr2:44049937 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.940C>T (p.Arg314Trp) single nucleotide variant Sitosterolemia [RCV002013688] Chr2:43824397 [GRCh38]
Chr2:44051536 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp) single nucleotide variant Sitosterolemia [RCV002012506] Chr2:43824009 [GRCh38]
Chr2:44051148 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.941G>A (p.Arg314Gln) single nucleotide variant Sitosterolemia [RCV002016881] Chr2:43824396 [GRCh38]
Chr2:44051535 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.962G>A (p.Arg321Lys) single nucleotide variant Sitosterolemia [RCV001958307] Chr2:43824375 [GRCh38]
Chr2:44051514 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.922G>C (p.Asp308His) single nucleotide variant Sitosterolemia [RCV001971234] Chr2:43824415 [GRCh38]
Chr2:44051554 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.634+6T>G single nucleotide variant Sitosterolemia [RCV001923981] Chr2:43827977 [GRCh38]
Chr2:44055116 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.11:g.(?_44027960)_(44223086_?)dup duplication not provided [RCV002014505] Chr2:44027960..44223086 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.866A>G (p.Tyr289Cys) single nucleotide variant Sitosterolemia [RCV001907855] Chr2:43824927 [GRCh38]
Chr2:44052066 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.642G>A (p.Met214Ile) single nucleotide variant Sitosterolemia [RCV001928035] Chr2:43826514 [GRCh38]
Chr2:44053653 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.433C>T (p.Arg145Cys) single nucleotide variant Sitosterolemia [RCV002028578] Chr2:43831837 [GRCh38]
Chr2:44058976 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1323_1324+2del deletion Sitosterolemia [RCV001968898] Chr2:43823911..43823914 [GRCh38]
Chr2:44051050..44051053 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.718C>T (p.Arg240Cys) single nucleotide variant Sitosterolemia [RCV001911893] Chr2:43826438 [GRCh38]
Chr2:44053577 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.975A>G (p.Ile325Met) single nucleotide variant Sitosterolemia [RCV001885669] Chr2:43824362 [GRCh38]
Chr2:44051501 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.11:g.(?_44040255)_(44041748_?)del deletion Sitosterolemia [RCV002026463] Chr2:44040255..44041748 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.82G>T (p.Ala28Ser) single nucleotide variant Sitosterolemia [RCV002011244] Chr2:43838598 [GRCh38]
Chr2:44065737 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1138del (p.Leu379_Val380insTer) deletion Sitosterolemia [RCV001948755] Chr2:43824099 [GRCh38]
Chr2:44051238 [GRCh37]
Chr2:2p21
pathogenic
NC_000002.11:g.(?_44001278)_(45236249_?)dup duplication not provided [RCV001926231] Chr2:44001278..45236249 [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.51C>A (p.Pro17=) single nucleotide variant not provided [RCV000946604]|not specified [RCV000173522] Chr2:43839104 [GRCh38]
Chr2:44066243 [GRCh37]
Chr2:2p21
benign|likely benign
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.29G>C (p.Gly10Ala) single nucleotide variant not provided [RCV001730333] Chr2:43839082 [GRCh38]
Chr2:44066221 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.861C>T (p.Cys287_Gly288=) single nucleotide variant Sitosterolemia [RCV002103386] Chr2:43824932 [GRCh38]
Chr2:44052071 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV002224309] Chr2:43839055 [GRCh38]
Chr2:44066194 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.1324+11A>G single nucleotide variant Sitosterolemia [RCV002111936] Chr2:43823902 [GRCh38]
Chr2:44051041 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.775-18C>G single nucleotide variant Sitosterolemia [RCV002156056] Chr2:43825036 [GRCh38]
Chr2:44052175 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.15G>C (p.Ala5=) single nucleotide variant not provided [RCV001417282] Chr2:43839068 [GRCh38]
Chr2:44066207 [GRCh37]
Chr2:2p21
likely benign
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.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.1325-8A>G single nucleotide variant Sitosterolemia [RCV002115006] Chr2:43822943 [GRCh38]
Chr2:44050082 [GRCh37]
Chr2:2p21
likely benign
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.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.21G>C (p.Glu7Asp) single nucleotide variant not provided [RCV000729574] Chr2:43839074 [GRCh38]
Chr2:44066213 [GRCh37]
Chr2:2p21
uncertain significance
NM_022437.3(ABCG8):c.63+40G>A single nucleotide variant not provided [RCV001598580] Chr2:43839156 [GRCh38]
Chr2:44066295 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.775-18C>T single nucleotide variant Sitosterolemia [RCV002173007] Chr2:43825036 [GRCh38]
Chr2:44052175 [GRCh37]
Chr2:2p21
likely benign
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.12G>A (p.Lys4=) single nucleotide variant not provided [RCV001489910] Chr2:43839065 [GRCh38]
Chr2:44066204 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.272G>A (p.Gly91Glu) single nucleotide variant Sitosterolemia 1 [RCV002245434] Chr2:43832077 [GRCh38]
Chr2:44059216 [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_016008.4(DYNC2LI1):c.1041C>A (p.Ile347=) single nucleotide variant not provided [RCV002148107] Chr2:43809752 [GRCh38]
Chr2:44036891 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1419C>A (p.Pro473_Phe474=) single nucleotide variant Sitosterolemia [RCV002192203] Chr2:43822841 [GRCh38]
Chr2:44049980 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1467G>A (p.Thr489_Leu490=) single nucleotide variant Sitosterolemia [RCV002193554] Chr2:43820097 [GRCh38]
Chr2:44047236 [GRCh37]
Chr2:2p21
likely benign
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_022436.3(ABCG5):c.1325-1G>T single nucleotide variant not provided [RCV002224328] Chr2:43822936 [GRCh38]
Chr2:44050075 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.45C>G (p.Leu15=) single nucleotide variant Sitosterolemia [RCV002117229] Chr2:43838635 [GRCh38]
Chr2:44065774 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.-15A>C single nucleotide variant Sitosterolemia 1 [RCV001094724]|Sitosterolemia [RCV000335368]|not provided [RCV001613095] Chr2:43839039 [GRCh38]
Chr2:44066178 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.501+11C>T single nucleotide variant Sitosterolemia [RCV002097059] Chr2:43831758 [GRCh38]
Chr2:44058897 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.-19T>G single nucleotide variant Sitosterolemia 1 [RCV001094723]|Sitosterolemia [RCV000280268]|not provided [RCV001527911]|not specified [RCV000173521] Chr2:43839035 [GRCh38]
Chr2:44066174 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1649+9T>A single nucleotide variant Sitosterolemia [RCV002219939] Chr2:43819906 [GRCh38]
Chr2:44047045 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1324+13G>A single nucleotide variant Sitosterolemia [RCV002158446] Chr2:43823900 [GRCh38]
Chr2:44051039 [GRCh37]
Chr2:2p21
likely benign
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_022436.3(ABCG5):c.775-17G>A single nucleotide variant Sitosterolemia [RCV002103888] Chr2:43825035 [GRCh38]
Chr2:44052174 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.265+13A>G single nucleotide variant Sitosterolemia [RCV002171300] Chr2:43837821 [GRCh38]
Chr2:44064960 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.402+19C>A single nucleotide variant Sitosterolemia [RCV002113600] Chr2:43831928 [GRCh38]
Chr2:44059067 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1890del (p.Phe630fs) deletion Sitosterolemia 1 [RCV002245426]|Sitosterolemia 2 [RCV002280914]|not provided [RCV002261459] Chr2:43813182 [GRCh38]
Chr2:44040321 [GRCh37]
Chr2:2p21
pathogenic|uncertain significance
NM_022437.3(ABCG8):c.6C>G (p.Ala2=) single nucleotide variant not provided [RCV002098046] Chr2:43839059 [GRCh38]
Chr2:44066198 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.429C>T (p.Thr143=) single nucleotide variant Sitosterolemia [RCV002203567] Chr2:43831841 [GRCh38]
Chr2:44058980 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1649+2dup duplication Sitosterolemia 2 [RCV002272934] Chr2:43819912..43819913 [GRCh38]
Chr2:44047051..44047052 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.728G>T (p.Arg243Leu) single nucleotide variant Sitosterolemia 2 [RCV002280996] Chr2:43826428 [GRCh38]
Chr2:44053567 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1183A>G (p.Ile395Val) single nucleotide variant not provided [RCV002261679] Chr2:43824054 [GRCh38]
Chr2:44051193 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
NM_022436.3(ABCG5):c.728G>A (p.Arg243Gln) single nucleotide variant not provided [RCV002261680] Chr2:43826428 [GRCh38]
Chr2:44053567 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter) single nucleotide variant Abnormal circulating lipid concentration [RCV002283584]|Hypercholesterolemia [RCV002282969] Chr2:43838616 [GRCh38]
Chr2:44065755 [GRCh37]
Chr2:2p21
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13886 AgrOrtholog
COSMIC ABCG5 COSMIC
Ensembl Genes ENSG00000138075 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000384513 ENTREZGENE
  ENSP00000384513.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000405322 ENTREZGENE
  ENST00000405322.8 UniProtKB/Swiss-Prot
  ENST00000644754 ENTREZGENE
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138075 GTEx
HGNC ID HGNC:13886 ENTREZGENE
Human Proteome Map ABCG5 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_2_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCG_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64240 UniProtKB/Swiss-Prot
NCBI Gene 64240 ENTREZGENE
OMIM 605459 OMIM
  618666 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 PA24411 PharmGKB
PROSITE ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ABCG5_HUMAN UniProtKB/Swiss-Prot
  Q53QN9_HUMAN UniProtKB/TrEMBL
  Q53T83_HUMAN UniProtKB/TrEMBL
  Q96QZ3 ENTREZGENE
  Q9H222 ENTREZGENE
UniProt Secondary Q2T9G2 UniProtKB/Swiss-Prot
  Q96QZ2 UniProtKB/Swiss-Prot
  Q96QZ3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCG5  ATP binding cassette subfamily G member 5    ATP-binding cassette, sub-family G (WHITE), member 5  Symbol and/or name change 5135510 APPROVED
2011-08-16 ABCG5  ATP-binding cassette, sub-family G (WHITE), member 5  ABCG5  ATP-binding cassette, sub-family G (WHITE), member 5  Symbol and/or name change 5135510 APPROVED