SLC2A10 (solute carrier family 2 member 10) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SLC2A10 (solute carrier family 2 member 10) Homo sapiens
Analyze
Symbol: SLC2A10
Name: solute carrier family 2 member 10
RGD ID: 1315233
HGNC Page HGNC
Description: Enables D-glucose transmembrane transporter activity and dehydroascorbic acid transmembrane transporter activity. Involved in dehydroascorbic acid transport and glucose import across plasma membrane. Acts upstream of or within several processes, including regulation of gene expression; regulation of glycoprotein biosynthetic process; and regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Part of perinuclear region of cytoplasm. Is active in plasma membrane. Implicated in arterial tortuosity syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATORS; ATS; glucose transporter type 10; GLUT-10; GLUT10; MGC126706; solute carrier family 2 (facilitated glucose transporter), member 10; solute carrier family 2, facilitated glucose transporter member 10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2046,709,649 - 46,736,347 (+)EnsemblGRCh38hg38GRCh38
GRCh382046,708,358 - 46,736,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372045,338,288 - 45,364,986 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,771,686 - 44,798,393 (+)NCBINCBI36hg18NCBI36
Build 342044,771,685 - 44,798,390NCBI
Celera2042,049,759 - 42,076,462 (+)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2042,079,514 - 42,106,227 (+)NCBIHuRef
CHM1_12045,241,287 - 45,267,979 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal carotid artery morphology  (IAGP)
Abnormal thrombosis  (IAGP)
Aortic dissection  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Aortic tortuosity  (IAGP)
Aortic valve stenosis  (IAGP)
Arachnodactyly  (IAGP)
Arterial stenosis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Bicuspid aortic valve  (IAGP)
Blepharophimosis  (IAGP)
Bruising susceptibility  (IAGP)
Cardiac arrest  (IAGP)
Cardiorespiratory arrest  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Convex nasal ridge  (IAGP)
Coxa valga  (IAGP)
Coxa vara  (IAGP)
Craniosynostosis  (IAGP)
Cutis laxa  (IAGP)
Dilated cardiomyopathy  (IAGP)
Disproportionate tall stature  (IAGP)
Downslanted palpebral fissures  (IAGP)
Esophagitis  (IAGP)
Fatigue  (IAGP)
Femoral hernia  (IAGP)
Flexion contracture  (IAGP)
Focal-onset seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized arterial tortuosity  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hiatus hernia  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hyperextensible skin  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Ischemic stroke  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Keratoconus  (IAGP)
Keratoglobus  (IAGP)
Long face  (IAGP)
Long palm  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Median cleft lip and palate  (IAGP)
Micrognathia  (IAGP)
Myocardial infarction  (IAGP)
Myocarditis  (IAGP)
Myopia  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Prematurely aged appearance  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pyloric stenosis  (IAGP)
Redundant skin  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Rocker bottom foot  (IAGP)
Scoliosis  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Soft, doughy skin  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Telangiectases of the cheeks  (IAGP)
Telangiectasia of the skin  (IAGP)
Thin skin  (IAGP)
Umbilical hernia  (IAGP)
Ventricular hypertrophy  (IAGP)
References

Additional References at PubMed
PMID:11247674   PMID:11592815   PMID:11780052   PMID:12477932   PMID:12554125   PMID:12890477   PMID:12941788   PMID:14702039   PMID:15489334   PMID:15679832   PMID:15936967   PMID:15975113  
PMID:16051383   PMID:16336637   PMID:16550171   PMID:16586067   PMID:18565096   PMID:18774132   PMID:18818946   PMID:19913121   PMID:20301533   PMID:20379614   PMID:20628086   PMID:20735855  
PMID:21873635   PMID:22001912   PMID:25078964   PMID:25373504   PMID:25392904   PMID:26376865   PMID:27153185   PMID:28726533   PMID:29323665   PMID:29509190   PMID:30280653   PMID:31918632  
PMID:32453789  


Genomics

Comparative Map Data
SLC2A10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2046,709,649 - 46,736,347 (+)EnsemblGRCh38hg38GRCh38
GRCh382046,708,358 - 46,736,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372045,338,288 - 45,364,986 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,771,686 - 44,798,393 (+)NCBINCBI36hg18NCBI36
Build 342044,771,685 - 44,798,390NCBI
Celera2042,049,759 - 42,076,462 (+)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2042,079,514 - 42,106,227 (+)NCBIHuRef
CHM1_12045,241,287 - 45,267,979 (+)NCBICHM1_1
Slc2a10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392165,345,817 - 165,361,837 (+)NCBIGRCm39mm39
GRCm39 Ensembl2165,345,707 - 165,361,837 (+)Ensembl
GRCm382165,503,897 - 165,519,917 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2165,503,787 - 165,519,917 (+)EnsemblGRCm38mm10GRCm38
MGSCv372165,329,478 - 165,345,411 (+)NCBIGRCm37mm9NCBIm37
MGSCv362165,185,038 - 165,211,116 (+)NCBImm8
Celera2171,444,991 - 171,459,433 (+)NCBICelera
Cytogenetic Map2H3NCBI
cM Map285.66NCBI
Slc2a10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23154,240,395 - 154,252,690 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl3162,181,974 - 162,194,804 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03162,182,156 - 162,194,610 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03168,364,925 - 168,377,379 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43156,560,451 - 156,572,777 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13156,448,574 - 156,476,839 (+)NCBI
Celera3152,832,517 - 152,844,696 (+)NCBICelera
Cytogenetic Map3q42NCBI
Slc2a10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544510,709,681 - 10,722,264 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544510,708,147 - 10,722,109 (-)NCBIChiLan1.0ChiLan1.0
SLC2A10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12044,128,837 - 44,153,154 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2044,128,837 - 44,153,148 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02043,043,801 - 43,068,304 (+)NCBIMhudiblu_PPA_v0panPan3
SLC2A10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12433,905,099 - 33,920,604 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2433,905,203 - 33,919,454 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2433,365,346 - 33,380,379 (+)NCBI
ROS_Cfam_1.02434,613,963 - 34,628,991 (+)NCBI
UMICH_Zoey_3.12433,870,705 - 33,885,725 (+)NCBI
UNSW_CanFamBas_1.02433,987,615 - 34,002,642 (+)NCBI
UU_Cfam_GSD_1.02434,526,597 - 34,541,658 (+)NCBI
Slc2a10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640191,037,110 - 191,050,617 (-)NCBI
SpeTri2.0NW_0049365146,490,728 - 6,504,152 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC2A10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1748,824,414 - 48,843,201 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11748,824,054 - 48,842,811 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21754,526,449 - 54,533,934 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC2A10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1217,160,692 - 17,185,875 (-)NCBI
Vero_WHO_p1.0NW_02366605065,803,530 - 65,828,497 (-)NCBI
Slc2a10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247907,967,398 - 7,982,312 (-)NCBI

Position Markers
D20S893  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20q13.1UniSTS
Marshfield Genetic Map2077.75RGD
Marshfield Genetic Map2077.75UniSTS
Genethon Genetic Map2076.9UniSTS
D20S885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372017,963,854 - 17,963,980UniSTSGRCh37
Build 362017,911,854 - 17,911,980RGDNCBI36
Celera2018,038,401 - 18,038,527RGD
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map20q13.1UniSTS
HuRef2017,926,760 - 17,926,886UniSTS
Marshfield Genetic Map2039.9UniSTS
Marshfield Genetic Map2039.9RGD
Genethon Genetic Map2039.9UniSTS
RH66093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,364,592 - 45,364,721UniSTSGRCh37
Build 362044,797,999 - 44,798,128RGDNCBI36
Celera2042,076,068 - 42,076,197RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,105,833 - 42,105,962UniSTS
GeneMap99-GB4 RH Map20262.25UniSTS
SHGC-44522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,364,592 - 45,364,692UniSTSGRCh37
Build 362044,797,999 - 44,798,099RGDNCBI36
Celera2042,076,068 - 42,076,168RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,105,833 - 42,105,933UniSTS
TNG Radiation Hybrid Map2021238.0UniSTS
SLC2A10_1831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,364,286 - 45,365,072UniSTSGRCh37
Build 362044,797,693 - 44,798,479RGDNCBI36
Celera2042,075,762 - 42,076,548RGD
HuRef2042,105,527 - 42,106,313UniSTS
Z94364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,341,844 - 45,342,022UniSTSGRCh37
Build 362044,775,251 - 44,775,429RGDNCBI36
Celera2042,053,323 - 42,053,501RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,083,078 - 42,083,256UniSTS
STS-N36110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,363,762 - 45,364,011UniSTSGRCh37
Build 362044,797,169 - 44,797,418RGDNCBI36
Celera2042,075,238 - 42,075,487RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,105,003 - 42,105,252UniSTS
GeneMap99-GB4 RH Map20262.56UniSTS
SGC44522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,364,592 - 45,364,853UniSTSGRCh37
Build 362044,797,999 - 44,798,260RGDNCBI36
Celera2042,076,068 - 42,076,329RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,105,833 - 42,106,094UniSTS
GeneMap99-GB4 RH Map20261.21UniSTS
Whitehead-RH Map20297.7UniSTS
NCBI RH Map20487.3UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2228
Count of miRNA genes:743
Interacting mature miRNAs:826
Transcripts:ENST00000359271, ENST00000486000
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 562 633 1113 498 21 357 1025 220 493 88 750 1089 143 470 535 2
Low 1836 1551 596 119 562 98 3029 1617 2996 307 675 427 22 1 734 1958 4 2
Below cutoff 16 705 8 6 853 8 299 348 222 10 13 37 5 295

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF248053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF321240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF479407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359271   ⟹   ENSP00000352216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,709,649 - 46,736,347 (+)Ensembl
RefSeq Acc Id: ENST00000486000   ⟹   ENSP00000478679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,709,699 - 46,710,437 (+)Ensembl
RefSeq Acc Id: ENST00000611837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,714,467 - 46,725,470 (+)Ensembl
RefSeq Acc Id: NM_030777   ⟹   NP_110404
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,709,649 - 46,736,347 (+)NCBI
GRCh372045,338,279 - 45,364,986 (+)ENTREZGENE
Build 362044,771,686 - 44,798,393 (+)NCBI Archive
HuRef2042,079,514 - 42,106,227 (+)ENTREZGENE
CHM1_12045,241,287 - 45,267,979 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529060   ⟹   XP_011527362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,708,370 - 46,736,326 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529061   ⟹   XP_011527363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,712,882 - 46,736,326 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529062   ⟹   XP_011527364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,708,359 - 46,736,326 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529063   ⟹   XP_011527365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,708,360 - 46,728,627 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529064   ⟹   XP_011527366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,708,358 - 46,728,256 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529065   ⟹   XP_011527367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,708,363 - 46,736,326 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028087   ⟹   XP_016883576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,709,640 - 46,736,326 (+)NCBI
Sequence:
RefSeq Acc Id: XR_936641
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,708,364 - 46,736,326 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_110404   ⟸   NM_030777
- UniProtKB: O95528 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527366   ⟸   XM_011529064
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011527364   ⟸   XM_011529062
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011527365   ⟸   XM_011529063
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011527367   ⟸   XM_011529065
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011527362   ⟸   XM_011529060
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011527363   ⟸   XM_011529061
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016883576   ⟸   XM_017028087
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000352216   ⟸   ENST00000359271
RefSeq Acc Id: ENSP00000478679   ⟸   ENST00000486000
Protein Domains
MFS

Promoters
RGD ID:6799066
Promoter ID:HG_KWN:39699
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000359271,   OTTHUMT00000193678
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,771,406 - 44,771,906 (+)MPROMDB
RGD ID:13207173
Promoter ID:EPDNEW_H27167
Type:initiation region
Name:SLC2A10_2
Description:solute carrier family 2 member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27169  EPDNEW_H27168  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,708,310 - 46,708,370EPDNEW
RGD ID:13207177
Promoter ID:EPDNEW_H27168
Type:initiation region
Name:SLC2A10_3
Description:solute carrier family 2 member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27167  EPDNEW_H27169  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,709,172 - 46,709,232EPDNEW
RGD ID:13207175
Promoter ID:EPDNEW_H27169
Type:initiation region
Name:SLC2A10_1
Description:solute carrier family 2 member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27167  EPDNEW_H27168  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,709,649 - 46,709,709EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_030777.4(SLC2A10):c.238G>A (p.Gly80Arg) single nucleotide variant not provided [RCV000521208] Chr20:46725274 [GRCh38]
Chr20:45353913 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.961del (p.Val321fs) deletion Arterial tortuosity syndrome [RCV000004848] Chr20:46725997 [GRCh38]
Chr20:45354636 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) deletion Arterial tortuosity syndrome [RCV000004849]|Cardiovascular phenotype [RCV000243541]|not provided [RCV000197366] Chr20:46726908 [GRCh38]
Chr20:45355547 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_030777.4(SLC2A10):c.189G>C (p.Leu63=) single nucleotide variant Arterial tortuosity syndrome [RCV000541771] Chr20:46725225 [GRCh38]
Chr20:45353864 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn) single nucleotide variant Arterial tortuosity syndrome [RCV001456321]|not provided [RCV000836031]|not specified [RCV001358748] Chr20:46733767 [GRCh38]
Chr20:45362406 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1234G>A (p.Ala412Thr) single nucleotide variant Arterial tortuosity syndrome [RCV000549142] Chr20:46726270 [GRCh38]
Chr20:45354909 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.505G>A (p.Gly169Ser) single nucleotide variant Arterial tortuosity syndrome [RCV000555699]|not provided [RCV000585103] Chr20:46725541 [GRCh38]
Chr20:45354180 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.212G>T (p.Cys71Phe) single nucleotide variant not provided [RCV000522269] Chr20:46725248 [GRCh38]
Chr20:45353887 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) single nucleotide variant Arterial tortuosity syndrome [RCV000004847] Chr20:46725546 [GRCh38]
Chr20:45354185 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) single nucleotide variant Arterial tortuosity syndrome [RCV000004850]|not provided [RCV000498947] Chr20:46725279 [GRCh38]
Chr20:45353918 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) single nucleotide variant Arterial tortuosity syndrome [RCV000004851]|not provided [RCV000199687] Chr20:46726312 [GRCh38]
Chr20:45354951 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) single nucleotide variant Arterial tortuosity syndrome [RCV000004852]|Cardiovascular phenotype [RCV000619910]|Familial thoracic aortic aneurysm and aortic dissection [RCV000616750] Chr20:46725430 [GRCh38]
Chr20:45354069 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) single nucleotide variant Arterial tortuosity syndrome [RCV000357718]|Cardiovascular phenotype [RCV000621541]|not specified [RCV000128119] Chr20:46725273 [GRCh38]
Chr20:45353912 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) single nucleotide variant Arterial tortuosity syndrome [RCV000234189]|Cardiovascular phenotype [RCV000244204]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770702]|not specified [RCV000128120] Chr20:46725352 [GRCh38]
Chr20:45353991 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) single nucleotide variant Arterial tortuosity syndrome [RCV001086887]|Cardiovascular phenotype [RCV000250258]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770703]|not provided [RCV000755386]|not specified [RCV000128121] Chr20:46725402 [GRCh38]
Chr20:45354041 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) single nucleotide variant Arterial tortuosity syndrome [RCV000355944]|Cardiovascular phenotype [RCV000241677]|not specified [RCV000175951] Chr20:46725652 [GRCh38]
Chr20:45354291 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) single nucleotide variant Arterial tortuosity syndrome [RCV000228430]|Cardiovascular phenotype [RCV000249171]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171029]|not specified [RCV000128123] Chr20:46725852 [GRCh38]
Chr20:45354491 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) single nucleotide variant Arterial tortuosity syndrome [RCV000230382]|Cardiovascular phenotype [RCV000246894]|not specified [RCV000128124] Chr20:46726190 [GRCh38]
Chr20:45354829 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.1288+10G>A single nucleotide variant Arterial tortuosity syndrome [RCV000205809]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171031]|not specified [RCV000128125] Chr20:46726334 [GRCh38]
Chr20:45354973 [GRCh37]
Chr20:20q13.12
benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) single nucleotide variant Arterial tortuosity syndrome [RCV000227382]|Cardiovascular phenotype [RCV000245374]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171032]|not provided [RCV000756646]|not specified [RCV000128126] Chr20:46729453 [GRCh38]
Chr20:45358092 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) single nucleotide variant Arterial tortuosity syndrome [RCV000366812]|Cardiovascular phenotype [RCV000250025]|not specified [RCV000128127] Chr20:46729482 [GRCh38]
Chr20:45358121 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.1547+18T>G single nucleotide variant not specified [RCV000128128] Chr20:46729506 [GRCh38]
Chr20:45358145 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.1548-19C>T single nucleotide variant not specified [RCV000128129] Chr20:46733737 [GRCh38]
Chr20:45362376 [GRCh37]
Chr20:20q13.12
benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.1548-18G>A single nucleotide variant not specified [RCV000128130] Chr20:46733738 [GRCh38]
Chr20:45362377 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) single nucleotide variant Arterial tortuosity syndrome [RCV000277015]|Cardiovascular phenotype [RCV000249379]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770710]|not specified [RCV000128131] Chr20:46733760 [GRCh38]
Chr20:45362399 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) single nucleotide variant Arterial tortuosity syndrome [RCV000363470]|Cardiovascular phenotype [RCV000254458]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770711]|not specified [RCV000128132] Chr20:46733817 [GRCh38]
Chr20:45362456 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) single nucleotide variant Arterial tortuosity syndrome [RCV000456483]|Cardiovascular phenotype [RCV000247579]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769677]|not specified [RCV000128133] Chr20:46733825 [GRCh38]
Chr20:45362464 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.-27C>T single nucleotide variant Arterial tortuosity syndrome [RCV000287536]|not specified [RCV000128134] Chr20:46709710 [GRCh38]
Chr20:45338349 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.-15C>T single nucleotide variant Arterial tortuosity syndrome [RCV000394632]|not specified [RCV000128135] Chr20:46709722 [GRCh38]
Chr20:45338361 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter) single nucleotide variant Arterial tortuosity syndrome [RCV000202459] Chr20:46725792 [GRCh38]
Chr20:45354431 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) single nucleotide variant Arterial tortuosity syndrome [RCV000202463] Chr20:46725453 [GRCh38]
Chr20:45354092 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu) single nucleotide variant Arterial tortuosity syndrome [RCV000202473] Chr20:46726909 [GRCh38]
Chr20:45355548 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val) single nucleotide variant Arterial tortuosity syndrome [RCV000202496] Chr20:46725461 [GRCh38]
Chr20:45354100 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) deletion Arterial tortuosity syndrome [RCV000202501]|not provided [RCV000599026] Chr20:46725764..46725767 [GRCh38]
Chr20:45354403..45354406 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) single nucleotide variant Arterial tortuosity syndrome [RCV000202510]|Cardiovascular phenotype [RCV000248625] Chr20:46725721 [GRCh38]
Chr20:45354360 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) single nucleotide variant Arterial tortuosity syndrome [RCV000202526]|not provided [RCV000997785] Chr20:46726884 [GRCh38]
Chr20:45355523 [GRCh37]
Chr20:20q13.12
pathogenic|uncertain significance
NM_030777.4(SLC2A10):c.1411+1G>A single nucleotide variant Arterial tortuosity syndrome [RCV000202532] Chr20:46726987 [GRCh38]
Chr20:45355626 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu) single nucleotide variant Arterial tortuosity syndrome [RCV000202540] Chr20:46725773 [GRCh38]
Chr20:45354412 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.1411+480_1547+299del deletion Arterial tortuosity syndrome [RCV000202550] Chr20:46727444..46729765 [GRCh38]
Chr20:45356083..45358404 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) single nucleotide variant Arterial tortuosity syndrome [RCV000202558]|not provided [RCV000492992] Chr20:46726905 [GRCh38]
Chr20:45355544 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) single nucleotide variant Arterial tortuosity syndrome [RCV000319871]|Cardiovascular phenotype [RCV000252305]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770704]|not provided [RCV000724210]|not specified [RCV000199609] Chr20:46725551 [GRCh38]
Chr20:45354190 [GRCh37]
Chr20:20q13.12
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) single nucleotide variant Arterial tortuosity syndrome [RCV000185549]|Cardiovascular phenotype [RCV000251075] Chr20:46725728 [GRCh38]
Chr20:45354367 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) single nucleotide variant Arterial tortuosity syndrome [RCV001087931]|Cardiovascular phenotype [RCV000242080]|not provided [RCV000724461]|not specified [RCV000178369] Chr20:46729405 [GRCh38]
Chr20:45358044 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.1593G>A (p.Pro531=) single nucleotide variant Arterial tortuosity syndrome [RCV000475676]|not specified [RCV000200433] Chr20:46733801 [GRCh38]
Chr20:45362440 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln) single nucleotide variant Arterial tortuosity syndrome [RCV001037765]|not provided [RCV000196471] Chr20:46726899 [GRCh38]
Chr20:45355538 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.416A>G (p.Tyr139Cys) single nucleotide variant not provided [RCV000200509] Chr20:46725452 [GRCh38]
Chr20:45354091 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) single nucleotide variant Arterial tortuosity syndrome [RCV000700242]|not provided [RCV000200540] Chr20:46726093 [GRCh38]
Chr20:45354732 [GRCh37]
Chr20:20q13.12
likely pathogenic|likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val) single nucleotide variant Cardiovascular phenotype [RCV000243048]|not provided [RCV000200650] Chr20:46733824 [GRCh38]
Chr20:45362463 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val) single nucleotide variant Arterial tortuosity syndrome [RCV000702084]|not provided [RCV000200749] Chr20:46729364 [GRCh38]
Chr20:45358003 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.443T>C (p.Leu148Pro) single nucleotide variant not provided [RCV000197067] Chr20:46725479 [GRCh38]
Chr20:45354118 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) single nucleotide variant Arterial tortuosity syndrome [RCV000202447]|Cardiovascular phenotype [RCV000248956]|not provided [RCV000997782]|not specified [RCV000202814] Chr20:46725349 [GRCh38]
Chr20:45353988 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.430A>T (p.Thr144Ser) single nucleotide variant not provided [RCV000197243] Chr20:46725466 [GRCh38]
Chr20:45354105 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln) single nucleotide variant Arterial tortuosity syndrome [RCV000815839]|not specified [RCV000197301] Chr20:46726244 [GRCh38]
Chr20:45354883 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.878G>A (p.Arg293His) single nucleotide variant Arterial tortuosity syndrome [RCV000644030]|not provided [RCV000197611] Chr20:46725914 [GRCh38]
Chr20:45354553 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1411+2T>A single nucleotide variant not provided [RCV000197685] Chr20:46726988 [GRCh38]
Chr20:45355627 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) single nucleotide variant Arterial tortuosity syndrome [RCV000685755]|Cardiovascular phenotype [RCV000620419]|not provided [RCV000197827] Chr20:46725884 [GRCh38]
Chr20:45354523 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_030777.4(SLC2A10):c.635G>C (p.Gly212Ala) single nucleotide variant not specified [RCV000197879] Chr20:46725671 [GRCh38]
Chr20:45354310 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly) single nucleotide variant Arterial tortuosity syndrome [RCV000233181] Chr20:46726926 [GRCh38]
Chr20:45355565 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) single nucleotide variant Arterial tortuosity syndrome [RCV000354340]|Cardiovascular phenotype [RCV000618750]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171026]|not specified [RCV000198021] Chr20:46725353 [GRCh38]
Chr20:45353992 [GRCh37]
Chr20:20q13.12
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.1175G>A (p.Ser392Asn) single nucleotide variant not provided [RCV000198110] Chr20:46726211 [GRCh38]
Chr20:45354850 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) single nucleotide variant Arterial tortuosity syndrome [RCV000341783]|not specified [RCV000198206] Chr20:46726261 [GRCh38]
Chr20:45354900 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala) single nucleotide variant Arterial tortuosity syndrome [RCV000560592]|not provided [RCV000727007] Chr20:46726046 [GRCh38]
Chr20:45354685 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.611G>A (p.Gly204Asp) single nucleotide variant Arterial tortuosity syndrome [RCV000544217] Chr20:46725647 [GRCh38]
Chr20:45354286 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys) single nucleotide variant Arterial tortuosity syndrome [RCV000526612]|Cardiovascular phenotype [RCV000619832]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171033]|not provided [RCV000198411] Chr20:46733808 [GRCh38]
Chr20:45362447 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) single nucleotide variant Arterial tortuosity syndrome [RCV000644034]|not specified [RCV000198441] Chr20:46725816 [GRCh38]
Chr20:45354455 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile) single nucleotide variant Arterial tortuosity syndrome [RCV000477467]|Cardiovascular phenotype [RCV000621869]|not provided [RCV000198548] Chr20:46729356 [GRCh38]
Chr20:45357995 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn) single nucleotide variant Arterial tortuosity syndrome [RCV000644029]|not provided [RCV000195424] Chr20:46726977 [GRCh38]
Chr20:45355616 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.129C>G (p.Ser43Arg) single nucleotide variant not provided [RCV000198918] Chr20:46725165 [GRCh38]
Chr20:45353804 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.145T>A (p.Phe49Ile) single nucleotide variant not provided [RCV000199050] Chr20:46725181 [GRCh38]
Chr20:45353820 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.371C>T (p.Ser124Leu) single nucleotide variant not provided [RCV000195531] Chr20:46725407 [GRCh38]
Chr20:45354046 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) single nucleotide variant Arterial tortuosity syndrome [RCV000202453]|not provided [RCV000195605] Chr20:46725727 [GRCh38]
Chr20:45354366 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.587A>T (p.Lys196Met) single nucleotide variant not specified [RCV000195701] Chr20:46725623 [GRCh38]
Chr20:45354262 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) single nucleotide variant Bicuspid aortic valve [RCV000582570]|not provided [RCV000199139] Chr20:46725965 [GRCh38]
Chr20:45354604 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys) single nucleotide variant Arterial tortuosity syndrome [RCV000389505]|not provided [RCV000199255] Chr20:46725709 [GRCh38]
Chr20:45354348 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_030777.4(SLC2A10):c.995T>C (p.Val332Ala) single nucleotide variant Arterial tortuosity syndrome [RCV001343842]|not provided [RCV000199334] Chr20:46726031 [GRCh38]
Chr20:45354670 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His) single nucleotide variant not provided [RCV000585246] Chr20:46725350 [GRCh38]
Chr20:45353989 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr) single nucleotide variant Arterial tortuosity syndrome [RCV000687656]|not provided [RCV000756648] Chr20:46725352 [GRCh38]
Chr20:45353991 [GRCh37]
Chr20:20q13.12
pathogenic|likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1096C>T (p.Pro366Ser) single nucleotide variant Arterial tortuosity syndrome [RCV001367371]|not provided [RCV000195875] Chr20:46726132 [GRCh38]
Chr20:45354771 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu) single nucleotide variant not provided [RCV000199476]|not specified [RCV001192939] Chr20:46725540 [GRCh38]
Chr20:45354179 [GRCh37]
Chr20:20q13.12
conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) single nucleotide variant Aortic aneurysm, familial thoracic 2 [RCV000581259]|Arterial tortuosity syndrome [RCV000356436]|Cardiovascular phenotype [RCV000253705]|not provided [RCV000766833] Chr20:46726945 [GRCh38]
Chr20:45355584 [GRCh37]
Chr20:20q13.12
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.859G>A (p.Ala287Thr) single nucleotide variant not provided [RCV000196028] Chr20:46725895 [GRCh38]
Chr20:45354534 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) single nucleotide variant Arterial tortuosity syndrome [RCV000340579]|Cardiovascular phenotype [RCV000253407]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171030]|not provided [RCV000196120] Chr20:46725967 [GRCh38]
Chr20:45354606 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys) single nucleotide variant Arterial tortuosity syndrome [RCV000800770]|Cardiovascular phenotype [RCV000618481]|not provided [RCV000196153] Chr20:46733779 [GRCh38]
Chr20:45362418 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys) single nucleotide variant Arterial tortuosity syndrome [RCV001040072]|not provided [RCV000199912] Chr20:46729422 [GRCh38]
Chr20:45358061 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) single nucleotide variant Arterial tortuosity syndrome [RCV000295195]|Cardiovascular phenotype [RCV000252911]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770706]|not specified [RCV000196275] Chr20:46725801 [GRCh38]
Chr20:45354440 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.1387A>C (p.Ser463Arg) single nucleotide variant Arterial tortuosity syndrome [RCV000795533]|not specified [RCV000196340] Chr20:46726962 [GRCh38]
Chr20:45355601 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.794G>C (p.Gly265Ala) single nucleotide variant not specified [RCV000199982] Chr20:46725830 [GRCh38]
Chr20:45354469 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln) single nucleotide variant not specified [RCV000200110] Chr20:46725680 [GRCh38]
Chr20:45354319 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.462C>G (p.Asn154Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000208402] Chr20:46725498 [GRCh38]
Chr20:45354137 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.252G>A (p.Val84=) single nucleotide variant Arterial tortuosity syndrome [RCV000231255] Chr20:46725288 [GRCh38]
Chr20:45353927 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) single nucleotide variant Arterial tortuosity syndrome [RCV000229091]|not specified [RCV000612938] Chr20:46725666 [GRCh38]
Chr20:45354305 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) single nucleotide variant Arterial tortuosity syndrome [RCV001002470]|Cardiovascular phenotype [RCV000246524]|not provided [RCV000585432]|not specified [RCV000338554] Chr20:46725710 [GRCh38]
Chr20:45354349 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.696C>G (p.Thr232=) single nucleotide variant Arterial tortuosity syndrome [RCV000234521] Chr20:46725732 [GRCh38]
Chr20:45354371 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1461C>T (p.Val487=) single nucleotide variant not specified [RCV000600323] Chr20:46729402 [GRCh38]
Chr20:45358041 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) single nucleotide variant Arterial tortuosity syndrome [RCV000559415]|Familial thoracic aortic aneurysm and aortic dissection [RCV000606630] Chr20:46725684 [GRCh38]
Chr20:45354323 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.237C>A (p.Leu79=) single nucleotide variant not provided [RCV000997781]|not specified [RCV000603515] Chr20:46725273 [GRCh38]
Chr20:45353912 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.633G>A (p.Pro211=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001171027]|not provided [RCV000864126]|not specified [RCV000243555] Chr20:46725669 [GRCh38]
Chr20:45354308 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser) single nucleotide variant Arterial tortuosity syndrome [RCV000689753]|Cardiovascular phenotype [RCV000248432] Chr20:46726310 [GRCh38]
Chr20:45354949 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) single nucleotide variant Arterial tortuosity syndrome [RCV000459737]|Cardiovascular phenotype [RCV000253424] Chr20:46725817 [GRCh38]
Chr20:45354456 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser) single nucleotide variant Arterial tortuosity syndrome [RCV000458304]|Cardiovascular phenotype [RCV000249243] Chr20:46725155 [GRCh38]
Chr20:45353794 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.144G>A (p.Glu48=) single nucleotide variant Cardiovascular phenotype [RCV000244652] Chr20:46725180 [GRCh38]
Chr20:45353819 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.367G>A (p.Val123Met) single nucleotide variant Arterial tortuosity syndrome [RCV001217868]|Cardiovascular phenotype [RCV000254387] Chr20:46725403 [GRCh38]
Chr20:45354042 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=) single nucleotide variant Arterial tortuosity syndrome [RCV001461613]|not provided [RCV000864839]|not specified [RCV000242462] Chr20:46726946 [GRCh38]
Chr20:45355585 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1233C>T (p.Thr411=) single nucleotide variant Arterial tortuosity syndrome [RCV001505346]|Cardiovascular phenotype [RCV000249742]|not provided [RCV000872482] Chr20:46726269 [GRCh38]
Chr20:45354908 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser) single nucleotide variant Cardiovascular phenotype [RCV000247481] Chr20:46725646 [GRCh38]
Chr20:45354285 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile) single nucleotide variant Arterial tortuosity syndrome [RCV000467385]|Cardiovascular phenotype [RCV000252463] Chr20:46725617 [GRCh38]
Chr20:45354256 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu) single nucleotide variant Arterial tortuosity syndrome [RCV000805423]|Cardiovascular phenotype [RCV000247680] Chr20:46726123 [GRCh38]
Chr20:45354762 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.315C>T (p.Arg105=) single nucleotide variant Arterial tortuosity syndrome [RCV000471356]|Cardiovascular phenotype [RCV000245478]|not specified [RCV000421410] Chr20:46725351 [GRCh38]
Chr20:45353990 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) single nucleotide variant Arterial tortuosity syndrome [RCV000468449]|Cardiovascular phenotype [RCV000250376]|not specified [RCV000431013] Chr20:46726248 [GRCh38]
Chr20:45354887 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val) single nucleotide variant Arterial tortuosity syndrome [RCV001316953]|not provided [RCV000521540] Chr20:46725833 [GRCh38]
Chr20:45354472 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) single nucleotide variant Arterial tortuosity syndrome [RCV001088214]|Cardiovascular phenotype [RCV000243129]|not provided [RCV000459139]|not specified [RCV000433364] Chr20:46733756 [GRCh38]
Chr20:45362395 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.*143G>A single nucleotide variant Arterial tortuosity syndrome [RCV000265876] Chr20:46733977 [GRCh38]
Chr20:45362616 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.*958C>T single nucleotide variant Arterial tortuosity syndrome [RCV000302741] Chr20:46734792 [GRCh38]
Chr20:45363431 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.*29C>G single nucleotide variant Arterial tortuosity syndrome [RCV000268943] Chr20:46733863 [GRCh38]
Chr20:45362502 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.*1394G>A single nucleotide variant Arterial tortuosity syndrome [RCV000292991] Chr20:46735228 [GRCh38]
Chr20:45363867 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) single nucleotide variant Arterial tortuosity syndrome [RCV000260059]|Cardiovascular phenotype [RCV000622068]|not specified [RCV000422082] Chr20:46725366 [GRCh38]
Chr20:45354005 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.*809C>T single nucleotide variant Arterial tortuosity syndrome [RCV000271043] Chr20:46734643 [GRCh38]
Chr20:45363282 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_030777.4(SLC2A10):c.*2176T>C single nucleotide variant Arterial tortuosity syndrome [RCV000309276] Chr20:46736010 [GRCh38]
Chr20:45364649 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.*513T>C single nucleotide variant Arterial tortuosity syndrome [RCV000308462] Chr20:46734347 [GRCh38]
Chr20:45362986 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_030777.4(SLC2A10):c.*2316C>T single nucleotide variant Arterial tortuosity syndrome [RCV000360083] Chr20:46736150 [GRCh38]
Chr20:45364789 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) single nucleotide variant Arterial tortuosity syndrome [RCV000275279]|Cardiovascular phenotype [RCV000617505]|not specified [RCV000419941] Chr20:46725661 [GRCh38]
Chr20:45354300 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.*280C>T single nucleotide variant Arterial tortuosity syndrome [RCV000372065] Chr20:46734114 [GRCh38]
Chr20:45362753 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.*1162C>T single nucleotide variant Arterial tortuosity syndrome [RCV000372757] Chr20:46734996 [GRCh38]
Chr20:45363635 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1293T>C single nucleotide variant Arterial tortuosity syndrome [RCV000318794] Chr20:46735127 [GRCh38]
Chr20:45363766 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.*334A>G single nucleotide variant Arterial tortuosity syndrome [RCV000282635] Chr20:46734168 [GRCh38]
Chr20:45362807 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.*1143G>T single nucleotide variant Arterial tortuosity syndrome [RCV000322730] Chr20:46734977 [GRCh38]
Chr20:45363616 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1340G>A single nucleotide variant Arterial tortuosity syndrome [RCV000375694] Chr20:46735174 [GRCh38]
Chr20:45363813 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.*50T>C single nucleotide variant Arterial tortuosity syndrome [RCV000329261] Chr20:46733884 [GRCh38]
Chr20:45362523 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) single nucleotide variant Arterial tortuosity syndrome [RCV000326716]|not specified [RCV000611666] Chr20:46725846 [GRCh38]
Chr20:45354485 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.*470_*472del deletion Arterial tortuosity syndrome [RCV000352882] Chr20:46734295..46734297 [GRCh38]
Chr20:45362934..45362936 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*180A>G single nucleotide variant Arterial tortuosity syndrome [RCV000380165] Chr20:46734014 [GRCh38]
Chr20:45362653 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys) single nucleotide variant Aortic aneurysm, familial thoracic 6 [RCV000845461]|Arterial tortuosity syndrome [RCV000290249]|not provided [RCV000497610] Chr20:46725956 [GRCh38]
Chr20:45354595 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1731C>T single nucleotide variant Arterial tortuosity syndrome [RCV000388374] Chr20:46735565 [GRCh38]
Chr20:45364204 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*389C>G single nucleotide variant Arterial tortuosity syndrome [RCV000337696] Chr20:46734223 [GRCh38]
Chr20:45362862 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*2150C>A single nucleotide variant Arterial tortuosity syndrome [RCV000393439] Chr20:46735984 [GRCh38]
Chr20:45364623 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.*56A>G single nucleotide variant Arterial tortuosity syndrome [RCV000383783] Chr20:46733890 [GRCh38]
Chr20:45362529 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.*401C>A single nucleotide variant Arterial tortuosity syndrome [RCV000396855] Chr20:46734235 [GRCh38]
Chr20:45362874 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1272G>C single nucleotide variant Arterial tortuosity syndrome [RCV000261297] Chr20:46735106 [GRCh38]
Chr20:45363745 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) single nucleotide variant Arterial tortuosity syndrome [RCV000297350]|not provided [RCV000868886]|not specified [RCV000437797] Chr20:46726880 [GRCh38]
Chr20:45355519 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.*478G>A single nucleotide variant Arterial tortuosity syndrome [RCV000398324] Chr20:46734312 [GRCh38]
Chr20:45362951 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_030777.4(SLC2A10):c.*2365T>A single nucleotide variant Arterial tortuosity syndrome [RCV000399854] Chr20:46736199 [GRCh38]
Chr20:45364838 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile) single nucleotide variant Arterial tortuosity syndrome [RCV000400074] Chr20:46729430 [GRCh38]
Chr20:45358069 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*2203C>A single nucleotide variant Arterial tortuosity syndrome [RCV000347527] Chr20:46736037 [GRCh38]
Chr20:45364676 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*2285T>G single nucleotide variant Arterial tortuosity syndrome [RCV000303031] Chr20:46736119 [GRCh38]
Chr20:45364758 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.*1100T>G single nucleotide variant Arterial tortuosity syndrome [RCV000267591] Chr20:46734934 [GRCh38]
Chr20:45363573 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser) single nucleotide variant Arterial tortuosity syndrome [RCV001269301] Chr20:46725103 [GRCh38]
Chr20:45353742 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.163C>T (p.Leu55Phe) single nucleotide variant not provided [RCV000488998] Chr20:46725199 [GRCh38]
Chr20:45353838 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe) single nucleotide variant Arterial tortuosity syndrome [RCV000302783] Chr20:46725107 [GRCh38]
Chr20:45353746 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*712A>G single nucleotide variant Arterial tortuosity syndrome [RCV000363152] Chr20:46734546 [GRCh38]
Chr20:45363185 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys) single nucleotide variant Arterial tortuosity syndrome [RCV000400575] Chr20:46725336 [GRCh38]
Chr20:45353975 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.-22A>G single nucleotide variant Arterial tortuosity syndrome [RCV000347203] Chr20:46709715 [GRCh38]
Chr20:45338354 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1628T>A single nucleotide variant Arterial tortuosity syndrome [RCV000350169] Chr20:46735462 [GRCh38]
Chr20:45364101 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val) single nucleotide variant Arterial tortuosity syndrome [RCV001312628]|Cardiovascular phenotype [RCV000618065]|not provided [RCV000521329] Chr20:46725491 [GRCh38]
Chr20:45354130 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1858T>G single nucleotide variant Arterial tortuosity syndrome [RCV000296293] Chr20:46735692 [GRCh38]
Chr20:45364331 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*171C>T single nucleotide variant Arterial tortuosity syndrome [RCV000321019] Chr20:46734005 [GRCh38]
Chr20:45362644 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*269del deletion Arterial tortuosity syndrome [RCV000336130] Chr20:46734102 [GRCh38]
Chr20:45362741 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*182T>G single nucleotide variant Arterial tortuosity syndrome [RCV000285691] Chr20:46734016 [GRCh38]
Chr20:45362655 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*2416_*2418del deletion Arterial tortuosity syndrome [RCV000297388] Chr20:46736248..46736250 [GRCh38]
Chr20:45364887..45364889 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*2254del deletion Arterial tortuosity syndrome [RCV000393432] Chr20:46736088 [GRCh38]
Chr20:45364727 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*472dup duplication Arterial tortuosity syndrome [RCV000311794] Chr20:46734294..46734295 [GRCh38]
Chr20:45362933..45362934 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1000C>T single nucleotide variant Arterial tortuosity syndrome [RCV000357618] Chr20:46734834 [GRCh38]
Chr20:45363473 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.-60G>T single nucleotide variant Arterial tortuosity syndrome [RCV000394599] Chr20:46709677 [GRCh38]
Chr20:45338316 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.504C>T (p.Phe168=) single nucleotide variant Cardiovascular phenotype [RCV000621169]|not specified [RCV000601295] Chr20:46725540 [GRCh38]
Chr20:45354179 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) single nucleotide variant Arterial tortuosity syndrome [RCV000313426] Chr20:46733804 [GRCh38]
Chr20:45362443 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*2018C>T single nucleotide variant Arterial tortuosity syndrome [RCV000344188] Chr20:46735852 [GRCh38]
Chr20:45364491 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu) single nucleotide variant Arterial tortuosity syndrome [RCV000397732] Chr20:46726001 [GRCh38]
Chr20:45354640 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1758A>C single nucleotide variant Arterial tortuosity syndrome [RCV001139065] Chr20:46735592 [GRCh38]
Chr20:45364231 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.-55G>T single nucleotide variant Arterial tortuosity syndrome [RCV001138752] Chr20:46709682 [GRCh38]
Chr20:45338321 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val) single nucleotide variant Arterial tortuosity syndrome [RCV001138753] Chr20:46725209 [GRCh38]
Chr20:45353848 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp) single nucleotide variant Arterial tortuosity syndrome [RCV000581358] Chr20:46725233 [GRCh38]
Chr20:45353872 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*579G>C single nucleotide variant Arterial tortuosity syndrome [RCV001138971] Chr20:46734413 [GRCh38]
Chr20:45363052 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.475G>T (p.Gly159Cys) single nucleotide variant not provided [RCV000585578] Chr20:46725511 [GRCh38]
Chr20:45354150 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) single nucleotide variant Ehlers-Danlos syndrome, classic type [RCV000583694] Chr20:46725200 [GRCh38]
Chr20:45353839 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1110T>C (p.Thr370=) single nucleotide variant not specified [RCV000605814] Chr20:46726146 [GRCh38]
Chr20:45354785 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.4+9C>G single nucleotide variant not specified [RCV000438237] Chr20:46709749 [GRCh38]
Chr20:45338388 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1289-6C>T single nucleotide variant Arterial tortuosity syndrome [RCV000472232]|not specified [RCV000441732] Chr20:46726858 [GRCh38]
Chr20:45355497 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His) single nucleotide variant Arterial tortuosity syndrome [RCV001136614]|not provided [RCV000418131] Chr20:46726050 [GRCh38]
Chr20:45354689 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1547+19G>A single nucleotide variant not specified [RCV000424467] Chr20:46729507 [GRCh38]
Chr20:45358146 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) single nucleotide variant Arterial tortuosity syndrome [RCV000475316]|not specified [RCV000421466] Chr20:46725997 [GRCh38]
Chr20:45354636 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.1412-3C>T single nucleotide variant Arterial tortuosity syndrome [RCV000808509]|Cardiovascular phenotype [RCV000617316]|not specified [RCV000421568] Chr20:46729350 [GRCh38]
Chr20:45357989 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1446C>T (p.Tyr482=) single nucleotide variant Arterial tortuosity syndrome [RCV001483661]|not specified [RCV000428678] Chr20:46729387 [GRCh38]
Chr20:45358026 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.948C>T (p.Leu316=) single nucleotide variant Arterial tortuosity syndrome [RCV000952615]|not specified [RCV000435569] Chr20:46725984 [GRCh38]
Chr20:45354623 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.873G>A (p.Val291=) single nucleotide variant Arterial tortuosity syndrome [RCV000533325]|not specified [RCV000439009] Chr20:46725909 [GRCh38]
Chr20:45354548 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1269C>T (p.Phe423=) single nucleotide variant Arterial tortuosity syndrome [RCV001502738]|not provided [RCV000891318]|not specified [RCV000442758] Chr20:46726305 [GRCh38]
Chr20:45354944 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1412-13C>T single nucleotide variant not specified [RCV000439543] Chr20:46729340 [GRCh38]
Chr20:45357979 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.*8G>A single nucleotide variant not specified [RCV000436197] Chr20:46733842 [GRCh38]
Chr20:45362481 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.792T>C (p.His264=) single nucleotide variant Arterial tortuosity syndrome [RCV000869445]|Cardiovascular phenotype [RCV000619568]|not specified [RCV000426744] Chr20:46725828 [GRCh38]
Chr20:45354467 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=) single nucleotide variant Arterial tortuosity syndrome [RCV000463626]|Cardiovascular phenotype [RCV000617401]|not specified [RCV000433911] Chr20:46726044 [GRCh38]
Chr20:45354683 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_030777.4(SLC2A10):c.267C>T (p.Ser89=) single nucleotide variant Arterial tortuosity syndrome [RCV001463479]|not provided [RCV000470274] Chr20:46725303 [GRCh38]
Chr20:45353942 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys) single nucleotide variant Arterial tortuosity syndrome [RCV000462934] Chr20:46725101 [GRCh38]
Chr20:45353740 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1611C>G (p.Ile537Met) single nucleotide variant Arterial tortuosity syndrome [RCV000467080] Chr20:46733819 [GRCh38]
Chr20:45362458 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1456G>A (p.Ala486Thr) single nucleotide variant Arterial tortuosity syndrome [RCV000764247]|not provided [RCV000484355] Chr20:46729397 [GRCh38]
Chr20:45358036 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu) single nucleotide variant Arterial tortuosity syndrome [RCV001088256]|not provided [RCV000480486] Chr20:46725912 [GRCh38]
Chr20:45354551 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.311G>A (p.Gly104Asp) single nucleotide variant Arterial tortuosity syndrome [RCV000464934] Chr20:46725347 [GRCh38]
Chr20:45353986 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.517G>A (p.Ala173Thr) single nucleotide variant Arterial tortuosity syndrome [RCV000468813] Chr20:46725553 [GRCh38]
Chr20:45354192 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) single nucleotide variant Arterial tortuosity syndrome [RCV000476482] Chr20:46725635 [GRCh38]
Chr20:45354274 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) single nucleotide variant Arterial tortuosity syndrome [RCV000473304]|Cardiovascular phenotype [RCV000618796]|not provided [RCV000997783] Chr20:46725358 [GRCh38]
Chr20:45353997 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1278_1287delinsCC (p.Phe427fs) indel not provided [RCV000486742] Chr20:46726314..46726323 [GRCh38]
Chr20:45354953..45354962 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.712C>G (p.Leu238Val) single nucleotide variant not provided [RCV000486994] Chr20:46725748 [GRCh38]
Chr20:45354387 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_030777.4(SLC2A10):c.697A>C (p.Thr233Pro) single nucleotide variant Arterial tortuosity syndrome [RCV000473540] Chr20:46725733 [GRCh38]
Chr20:45354372 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) single nucleotide variant Arterial tortuosity syndrome [RCV000462576]|not specified [RCV000603155] Chr20:46733813 [GRCh38]
Chr20:45362452 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=) single nucleotide variant Arterial tortuosity syndrome [RCV001491029]|not specified [RCV000506440] Chr20:46725216 [GRCh38]
Chr20:45353855 [GRCh37]
Chr20:20q13.12
likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_030777.4(SLC2A10):c.484T>C (p.Trp162Arg) single nucleotide variant not provided [RCV000524044] Chr20:46725520 [GRCh38]
Chr20:45354159 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1457C>A (p.Ala486Asp) single nucleotide variant Cardiovascular phenotype [RCV000618413] Chr20:46729398 [GRCh38]
Chr20:45358037 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.397G>A (p.Gly133Arg) single nucleotide variant Arterial tortuosity syndrome [RCV000540552] Chr20:46725433 [GRCh38]
Chr20:45354072 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=) single nucleotide variant Arterial tortuosity syndrome [RCV000644033]|not specified [RCV001192940] Chr20:46726976 [GRCh38]
Chr20:45355615 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.577G>A (p.Ala193Thr) single nucleotide variant Arterial tortuosity syndrome [RCV000644032] Chr20:46725613 [GRCh38]
Chr20:45354252 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.421G>A (p.Ala141Thr) single nucleotide variant Arterial tortuosity syndrome [RCV000644028] Chr20:46725457 [GRCh38]
Chr20:45354096 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1539G>C (p.Gln513His) single nucleotide variant Arterial tortuosity syndrome [RCV000644027] Chr20:46729480 [GRCh38]
Chr20:45358119 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.369G>C (p.Val123=) single nucleotide variant not specified [RCV000601507] Chr20:46725405 [GRCh38]
Chr20:45354044 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1018G>A (p.Gly340Ser) single nucleotide variant Cardiovascular phenotype [RCV000620795] Chr20:46726054 [GRCh38]
Chr20:45354693 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1455C>T (p.Thr485=) single nucleotide variant Arterial tortuosity syndrome [RCV001407823]|Cardiovascular phenotype [RCV000619492]|not provided [RCV000921918] Chr20:46729396 [GRCh38]
Chr20:45358035 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.720C>A (p.Leu240=) single nucleotide variant not specified [RCV000613899] Chr20:46725756 [GRCh38]
Chr20:45354395 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.5G>C (p.Gly2Ala) single nucleotide variant Arterial tortuosity syndrome [RCV000529596] Chr20:46725041 [GRCh38]
Chr20:45353680 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1299T>C (p.Leu433=) single nucleotide variant Arterial tortuosity syndrome [RCV001419291]|not provided [RCV000877617]|not specified [RCV000604222] Chr20:46726874 [GRCh38]
Chr20:45355513 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.54T>C (p.Gly18=) single nucleotide variant not specified [RCV000612012] Chr20:46725090 [GRCh38]
Chr20:45353729 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp) single nucleotide variant Arterial tortuosity syndrome [RCV000644026]|Cardiovascular phenotype [RCV000618210] Chr20:46725424 [GRCh38]
Chr20:45354063 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.680A>G (p.Asn227Ser) single nucleotide variant Cardiovascular phenotype [RCV000619119] Chr20:46725716 [GRCh38]
Chr20:45354355 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu) single nucleotide variant Arterial tortuosity syndrome [RCV000644031] Chr20:46725431 [GRCh38]
Chr20:45354070 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.949G>C (p.Val317Leu) single nucleotide variant Cardiovascular phenotype [RCV000621092] Chr20:46725985 [GRCh38]
Chr20:45354624 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.-26dup duplication not specified [RCV000600053] Chr20:46709706..46709707 [GRCh38]
Chr20:45338345..45338346 [GRCh37]
Chr20:20q13.12
likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) single nucleotide variant Arterial tortuosity syndrome [RCV000867844]|Cardiovascular phenotype [RCV000622227] Chr20:46725468 [GRCh38]
Chr20:45354107 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity
NM_030777.4(SLC2A10):c.383G>A (p.Gly128Glu) single nucleotide variant not provided [RCV000658915] Chr20:46725419 [GRCh38]
Chr20:45354058 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His) single nucleotide variant Arterial tortuosity syndrome [RCV000701517]|not provided [RCV000997786] Chr20:46733809 [GRCh38]
Chr20:45362448 [GRCh37]
Chr20:20q13.12
uncertain significance
NC_000020.11:g.(?_46709717)_(46733854_?)del deletion Arterial tortuosity syndrome [RCV000707821] Chr20:46709717..46733854 [GRCh38]
Chr20:45338356..45362493 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.530T>C (p.Leu177Pro) single nucleotide variant Arterial tortuosity syndrome [RCV000692147] Chr20:46725566 [GRCh38]
Chr20:45354205 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe) single nucleotide variant Arterial tortuosity syndrome [RCV000703957] Chr20:46725637 [GRCh38]
Chr20:45354276 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg) single nucleotide variant Arterial tortuosity syndrome [RCV000706655] Chr20:46725772 [GRCh38]
Chr20:45354411 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly) single nucleotide variant Arterial tortuosity syndrome [RCV000687994] Chr20:46725707 [GRCh38]
Chr20:45354346 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.887G>A (p.Arg296His) single nucleotide variant Arterial tortuosity syndrome [RCV000695417] Chr20:46725923 [GRCh38]
Chr20:45354562 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu) single nucleotide variant Arterial tortuosity syndrome [RCV000705729] Chr20:46725833 [GRCh38]
Chr20:45354472 [GRCh37]
Chr20:20q13.12
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_030777.4(SLC2A10):c.666C>T (p.Phe222=) single nucleotide variant not provided [RCV000873643] Chr20:46725702 [GRCh38]
Chr20:45354341 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser) single nucleotide variant Arterial tortuosity syndrome [RCV001043347] Chr20:46726115 [GRCh38]
Chr20:45354754 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1344C>T (p.Phe448=) single nucleotide variant not provided [RCV000864410] Chr20:46726919 [GRCh38]
Chr20:45355558 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.663C>A (p.Leu221=) single nucleotide variant not provided [RCV000982039] Chr20:46725699 [GRCh38]
Chr20:45354338 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.915C>T (p.Ala305=) single nucleotide variant not provided [RCV000892410] Chr20:46725951 [GRCh38]
Chr20:45354590 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.363C>T (p.Ile121=) single nucleotide variant not provided [RCV000901457] Chr20:46725399 [GRCh38]
Chr20:45354038 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.858C>T (p.Thr286=) single nucleotide variant Arterial tortuosity syndrome [RCV000867015] Chr20:46725894 [GRCh38]
Chr20:45354533 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.297C>T (p.Ala99=) single nucleotide variant not provided [RCV000929424] Chr20:46725333 [GRCh38]
Chr20:45353972 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.209A>G (p.Asp70Gly) single nucleotide variant Arterial tortuosity syndrome [RCV001058944] Chr20:46725245 [GRCh38]
Chr20:45353884 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.104C>T (p.Pro35Leu) single nucleotide variant Arterial tortuosity syndrome [RCV001042682] Chr20:46725140 [GRCh38]
Chr20:45353779 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.826C>A (p.Leu276Ile) single nucleotide variant Arterial tortuosity syndrome [RCV001060926] Chr20:46725862 [GRCh38]
Chr20:45354501 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.590A>G (p.Asp197Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770705] Chr20:46725626 [GRCh38]
Chr20:45354265 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770701] Chr20:46725178 [GRCh38]
Chr20:45353817 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) single nucleotide variant Arterial tortuosity syndrome [RCV001035084]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770708] Chr20:46726240 [GRCh38]
Chr20:45354879 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1331G>A (p.Arg444Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770709] Chr20:46726906 [GRCh38]
Chr20:45355545 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1377C>T (p.Asn459=) single nucleotide variant Arterial tortuosity syndrome [RCV001433094]|not provided [RCV000862014] Chr20:46726952 [GRCh38]
Chr20:45355591 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.519A>G (p.Ala173=) single nucleotide variant not provided [RCV000918234] Chr20:46725555 [GRCh38]
Chr20:45354194 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1219C>T (p.Leu407=) single nucleotide variant not provided [RCV000862071] Chr20:46726255 [GRCh38]
Chr20:45354894 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1536C>T (p.Phe512=) single nucleotide variant Arterial tortuosity syndrome [RCV000864005] Chr20:46729477 [GRCh38]
Chr20:45358116 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1080T>G (p.Asn360Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770707] Chr20:46726116 [GRCh38]
Chr20:45354755 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*7C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000769678] Chr20:46733841 [GRCh38]
Chr20:45362480 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.306C>T (p.Val102=) single nucleotide variant Arterial tortuosity syndrome [RCV001395254]|not provided [RCV000842275] Chr20:46725342 [GRCh38]
Chr20:45353981 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1547G>A (p.Arg516Gln) single nucleotide variant Arterial tortuosity syndrome [RCV000798617] Chr20:46729488 [GRCh38]
Chr20:45358127 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.433G>A (p.Val145Met) single nucleotide variant Arterial tortuosity syndrome [RCV000801415] Chr20:46725469 [GRCh38]
Chr20:45354108 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1547+18del deletion not provided [RCV000838009] Chr20:46729506 [GRCh38]
Chr20:45358145 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1547+223G>T single nucleotide variant not provided [RCV000838205] Chr20:46729711 [GRCh38]
Chr20:45358350 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.8A>C (p.His3Pro) single nucleotide variant Arterial tortuosity syndrome [RCV000808019] Chr20:46725044 [GRCh38]
Chr20:45353683 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.5-116A>G single nucleotide variant not provided [RCV000834745] Chr20:46724925 [GRCh38]
Chr20:45353564 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1412-114A>G single nucleotide variant not provided [RCV000833085] Chr20:46729239 [GRCh38]
Chr20:45357878 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.1547+96C>T single nucleotide variant not provided [RCV000833102] Chr20:46729584 [GRCh38]
Chr20:45358223 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.1411+176G>C single nucleotide variant not provided [RCV000833584] Chr20:46727162 [GRCh38]
Chr20:45355801 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.1191G>A (p.Gly397=) single nucleotide variant not provided [RCV000840877] Chr20:46726227 [GRCh38]
Chr20:45354866 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.147C>G (p.Phe49Leu) single nucleotide variant Arterial tortuosity syndrome [RCV000813114] Chr20:46725183 [GRCh38]
Chr20:45353822 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1547G>C (p.Arg516Pro) single nucleotide variant Arterial tortuosity syndrome [RCV000796946] Chr20:46729488 [GRCh38]
Chr20:45358127 [GRCh37]
Chr20:20q13.12
uncertain significance
NC_000020.11:g.46709416C>A single nucleotide variant not provided [RCV000828481] Chr20:46709416 [GRCh38]
Chr20:45338055 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu) single nucleotide variant Arterial tortuosity syndrome [RCV000813485]|not specified [RCV001527009] Chr20:46726223 [GRCh38]
Chr20:45354862 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.1548-61C>G single nucleotide variant not provided [RCV000835822] Chr20:46733695 [GRCh38]
Chr20:45362334 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1586G>A (p.Gly529Asp) single nucleotide variant Arterial tortuosity syndrome [RCV000797466] Chr20:46733794 [GRCh38]
Chr20:45362433 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1009G>A (p.Gly337Arg) single nucleotide variant Arterial tortuosity syndrome [RCV000808773] Chr20:46726045 [GRCh38]
Chr20:45354684 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1411+181del deletion not provided [RCV000833247] Chr20:46727167 [GRCh38]
Chr20:45355806 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.*191C>T single nucleotide variant Arterial tortuosity syndrome [RCV001136718] Chr20:46734025 [GRCh38]
Chr20:45362664 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1449T>C single nucleotide variant Arterial tortuosity syndrome [RCV001136821] Chr20:46735283 [GRCh38]
Chr20:45363922 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.5-121dup duplication not provided [RCV000836248] Chr20:46724918..46724919 [GRCh38]
Chr20:45353557..45353558 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1606G>A (p.Glu536Lys) single nucleotide variant Arterial tortuosity syndrome [RCV000812278] Chr20:46733814 [GRCh38]
Chr20:45362453 [GRCh37]
Chr20:20q13.12
uncertain significance
NC_000020.11:g.46709464C>T single nucleotide variant not provided [RCV000828709] Chr20:46709464 [GRCh38]
Chr20:45338103 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) single nucleotide variant Arterial tortuosity syndrome [RCV000816732] Chr20:46725151 [GRCh38]
Chr20:45353790 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.195T>A (p.Gly65=) single nucleotide variant not provided [RCV000841970] Chr20:46725231 [GRCh38]
Chr20:45353870 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1288+2T>C single nucleotide variant Arterial tortuosity syndrome [RCV000812297] Chr20:46726326 [GRCh38]
Chr20:45354965 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_030777.4(SLC2A10):c.*414G>T single nucleotide variant Arterial tortuosity syndrome [RCV001138970] Chr20:46734248 [GRCh38]
Chr20:45362887 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*410A>C single nucleotide variant Arterial tortuosity syndrome [RCV001138969] Chr20:46734244 [GRCh38]
Chr20:45362883 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.*2098A>G single nucleotide variant Arterial tortuosity syndrome [RCV001139066] Chr20:46735932 [GRCh38]
Chr20:45364571 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1265C>T (p.Ala422Val) single nucleotide variant not provided [RCV000997784] Chr20:46726301 [GRCh38]
Chr20:45354940 [GRCh37]
Chr20:20q13.12
uncertain significance
GRCh37/hg19 20q13.12(chr20:45350682-45499090)x3 copy number gain not provided [RCV000848307] Chr20:45350682..45499090 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn) single nucleotide variant Arterial tortuosity syndrome [RCV001043749] Chr20:46725682 [GRCh38]
Chr20:45354321 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1443C>G (p.Leu481=) single nucleotide variant Arterial tortuosity syndrome [RCV001223850] Chr20:46729384 [GRCh38]
Chr20:45358023 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val) single nucleotide variant Arterial tortuosity syndrome [RCV001218368] Chr20:46725206 [GRCh38]
Chr20:45353845 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*32T>C single nucleotide variant Arterial tortuosity syndrome [RCV001143297] Chr20:46733866 [GRCh38]
Chr20:45362505 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.*116C>T single nucleotide variant Arterial tortuosity syndrome [RCV001143298] Chr20:46733950 [GRCh38]
Chr20:45362589 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1502C>T single nucleotide variant Arterial tortuosity syndrome [RCV001136822] Chr20:46735336 [GRCh38]
Chr20:45363975 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1183C>T (p.Leu395Phe) single nucleotide variant Arterial tortuosity syndrome [RCV001211791] Chr20:46726219 [GRCh38]
Chr20:45354858 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys) single nucleotide variant Arterial tortuosity syndrome [RCV001141333] Chr20:46725401 [GRCh38]
Chr20:45354040 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.918C>T (p.Leu306=) single nucleotide variant not specified [RCV001192795] Chr20:46725954 [GRCh38]
Chr20:45354593 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.*608C>A single nucleotide variant Arterial tortuosity syndrome [RCV001141569] Chr20:46734442 [GRCh38]
Chr20:45363081 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) single nucleotide variant Arterial tortuosity syndrome [RCV001138862]|not provided [RCV000931657] Chr20:46726068 [GRCh38]
Chr20:45354707 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030777.4(SLC2A10):c.924C>T (p.Ala308=) single nucleotide variant Arterial tortuosity syndrome [RCV000862476] Chr20:46725960 [GRCh38]
Chr20:45354599 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1497A>G (p.Glu499=) single nucleotide variant not provided [RCV000910337] Chr20:46729438 [GRCh38]
Chr20:45358077 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.264C>G (p.Gly88=) single nucleotide variant Arterial tortuosity syndrome [RCV001484283]|not provided [RCV000942561] Chr20:46725300 [GRCh38]
Chr20:45353939 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.57C>T (p.Gly19=) single nucleotide variant not provided [RCV000917700] Chr20:46725093 [GRCh38]
Chr20:45353732 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser) single nucleotide variant not provided [RCV000940381] Chr20:46725782 [GRCh38]
Chr20:45354421 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.1426T>C (p.Ser476Pro) single nucleotide variant Arterial tortuosity syndrome [RCV001239845] Chr20:46729367 [GRCh38]
Chr20:45358006 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*926C>T single nucleotide variant Arterial tortuosity syndrome [RCV001141574] Chr20:46734760 [GRCh38]
Chr20:45363399 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*2137C>G single nucleotide variant Arterial tortuosity syndrome [RCV001139067] Chr20:46735971 [GRCh38]
Chr20:45364610 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.533A>G (p.Gln178Arg) single nucleotide variant Arterial tortuosity syndrome [RCV001224619] Chr20:46725569 [GRCh38]
Chr20:45354208 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val) single nucleotide variant Arterial tortuosity syndrome [RCV001143185] Chr20:46725653 [GRCh38]
Chr20:45354292 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1064G>A single nucleotide variant Arterial tortuosity syndrome [RCV001143396] Chr20:46734898 [GRCh38]
Chr20:45363537 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1230C>T single nucleotide variant Arterial tortuosity syndrome [RCV001143398] Chr20:46735064 [GRCh38]
Chr20:45363703 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.9C>T (p.His3=) single nucleotide variant Arterial tortuosity syndrome [RCV001496719]|not provided [RCV000935449] Chr20:46725045 [GRCh38]
Chr20:45353684 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1203C>T (p.Pro401=) single nucleotide variant Arterial tortuosity syndrome [RCV000890059] Chr20:46726239 [GRCh38]
Chr20:45354878 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.5-9_5-7del deletion Arterial tortuosity syndrome [RCV001448795]|not provided [RCV000935888] Chr20:46725030..46725032 [GRCh38]
Chr20:45353669..45353671 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile) single nucleotide variant Arterial tortuosity syndrome [RCV001141334] Chr20:46725537 [GRCh38]
Chr20:45354176 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1249G>A single nucleotide variant Arterial tortuosity syndrome [RCV001143399] Chr20:46735083 [GRCh38]
Chr20:45363722 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*852T>C single nucleotide variant Arterial tortuosity syndrome [RCV001141572] Chr20:46734686 [GRCh38]
Chr20:45363325 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*898A>C single nucleotide variant Arterial tortuosity syndrome [RCV001141573] Chr20:46734732 [GRCh38]
Chr20:45363371 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*2482T>A single nucleotide variant Arterial tortuosity syndrome [RCV001141679] Chr20:46736316 [GRCh38]
Chr20:45364955 [GRCh37]
Chr20:20q13.12
uncertain significance
NC_000020.11:g.(?_46709727)_(46733844_?)del deletion Arterial tortuosity syndrome [RCV001033774] Chr20:45338366..45362483 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly) single nucleotide variant Arterial tortuosity syndrome [RCV001138863] Chr20:46726261 [GRCh38]
Chr20:45354900 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*194G>A single nucleotide variant Arterial tortuosity syndrome [RCV001136719] Chr20:46734028 [GRCh38]
Chr20:45362667 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*194G>T single nucleotide variant Arterial tortuosity syndrome [RCV001136720] Chr20:46734028 [GRCh38]
Chr20:45362667 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.*214T>G single nucleotide variant Arterial tortuosity syndrome [RCV001136721] Chr20:46734048 [GRCh38]
Chr20:45362687 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*659G>A single nucleotide variant Arterial tortuosity syndrome [RCV001141571] Chr20:46734493 [GRCh38]
Chr20:45363132 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.562G>C (p.Gly188Arg) single nucleotide variant Arterial tortuosity syndrome [RCV001236071] Chr20:46725598 [GRCh38]
Chr20:45354237 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu) single nucleotide variant Arterial tortuosity syndrome [RCV001143186] Chr20:46725668 [GRCh38]
Chr20:45354307 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*641G>A single nucleotide variant Arterial tortuosity syndrome [RCV001141570] Chr20:46734475 [GRCh38]
Chr20:45363114 [GRCh37]
Chr20:20q13.12
benign
NM_030777.4(SLC2A10):c.484del (p.Trp162fs) deletion not provided [RCV001093358] Chr20:46725520 [GRCh38]
Chr20:45354159 [GRCh37]
Chr20:20q13.12
pathogenic
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg) single nucleotide variant Arterial tortuosity syndrome [RCV001201870] Chr20:46729406 [GRCh38]
Chr20:45358045 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1715G>A single nucleotide variant Arterial tortuosity syndrome [RCV001136823] Chr20:46735549 [GRCh38]
Chr20:45364188 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.808G>A (p.Val270Met) single nucleotide variant Arterial tortuosity syndrome [RCV001337721]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171028] Chr20:46725844 [GRCh38]
Chr20:45354483 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_030777.4(SLC2A10):c.*2409A>G single nucleotide variant Arterial tortuosity syndrome [RCV001141678] Chr20:46736243 [GRCh38]
Chr20:45364882 [GRCh37]
Chr20:20q13.12
uncertain significance
Single allele deletion Focal seizures [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13
likely pathogenic
NM_030777.4(SLC2A10):c.193G>T (p.Gly65Cys) single nucleotide variant Arterial tortuosity syndrome [RCV001048260] Chr20:46725229 [GRCh38]
Chr20:45353868 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.*1141G>A single nucleotide variant Arterial tortuosity syndrome [RCV001143397] Chr20:46734975 [GRCh38]
Chr20:45363614 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp) single nucleotide variant Arterial tortuosity syndrome [RCV001297600] Chr20:46725254 [GRCh38]
Chr20:45353893 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.110_121del (p.Gln37_Gly41delinsArg) deletion not provided [RCV001311989] Chr20:46725146..46725157 [GRCh38]
Chr20:45353785..45353796 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.877C>T (p.Arg293Cys) single nucleotide variant Arterial tortuosity syndrome [RCV001351321] Chr20:46725913 [GRCh38]
Chr20:45354552 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1206T>A (p.Ala402=) single nucleotide variant not provided [RCV001311991] Chr20:46726242 [GRCh38]
Chr20:45354881 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1216G>A (p.Ala406Thr) single nucleotide variant Arterial tortuosity syndrome [RCV001338440] Chr20:46726252 [GRCh38]
Chr20:45354891 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys) single nucleotide variant Arterial tortuosity syndrome [RCV001305156] Chr20:46726038 [GRCh38]
Chr20:45354677 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1573del (p.Gln525fs) deletion Arterial tortuosity syndrome [RCV001372501] Chr20:46733781 [GRCh38]
Chr20:45362420 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1185C>T (p.Leu395=) single nucleotide variant Arterial tortuosity syndrome [RCV001412793] Chr20:46726221 [GRCh38]
Chr20:45354860 [GRCh37]
Chr20:20q13.12
likely benign
NC_000020.10:g.(?_45362375)_(45362493_?)del deletion Arterial tortuosity syndrome [RCV001316689] Chr20:45362375..45362493 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.560C>T (p.Ala187Val) single nucleotide variant Arterial tortuosity syndrome [RCV001345719] Chr20:46725596 [GRCh38]
Chr20:45354235 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys) single nucleotide variant Arterial tortuosity syndrome [RCV001368321] Chr20:46725922 [GRCh38]
Chr20:45354561 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1375A>C (p.Asn459His) single nucleotide variant Arterial tortuosity syndrome [RCV001325516] Chr20:46726950 [GRCh38]
Chr20:45355589 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.368T>C (p.Val123Ala) single nucleotide variant Arterial tortuosity syndrome [RCV001323372] Chr20:46725404 [GRCh38]
Chr20:45354043 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro) single nucleotide variant not provided [RCV001311990] Chr20:46725290 [GRCh38]
Chr20:45353929 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_030777.4(SLC2A10):c.206T>C (p.Ile69Thr) single nucleotide variant Arterial tortuosity syndrome [RCV001370879] Chr20:46725242 [GRCh38]
Chr20:45353881 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.949G>A (p.Val317Ile) single nucleotide variant Arterial tortuosity syndrome [RCV001296717] Chr20:46725985 [GRCh38]
Chr20:45354624 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1154C>T (p.Ala385Val) single nucleotide variant Arterial tortuosity syndrome [RCV001318267] Chr20:46726190 [GRCh38]
Chr20:45354829 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs) microsatellite Arterial tortuosity syndrome [RCV001328465] Chr20:46726965..46726966 [GRCh38]
Chr20:45355604..45355605 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_030777.4(SLC2A10):c.4+10G>A single nucleotide variant Arterial tortuosity syndrome [RCV001502809] Chr20:46709750 [GRCh38]
Chr20:45338389 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.831C>T (p.Gly277=) single nucleotide variant Arterial tortuosity syndrome [RCV001425098] Chr20:46725867 [GRCh38]
Chr20:45354506 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.621C>G (p.Pro207=) single nucleotide variant Arterial tortuosity syndrome [RCV001487673] Chr20:46725657 [GRCh38]
Chr20:45354296 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.1566C>T (p.Gly522=) single nucleotide variant Arterial tortuosity syndrome [RCV001402104] Chr20:46733774 [GRCh38]
Chr20:45362413 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.960C>T (p.Ala320=) single nucleotide variant Arterial tortuosity syndrome [RCV001444003] Chr20:46725996 [GRCh38]
Chr20:45354635 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.831C>A (p.Gly277=) single nucleotide variant Arterial tortuosity syndrome [RCV001451855] Chr20:46725867 [GRCh38]
Chr20:45354506 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.681C>T (p.Asn227=) single nucleotide variant Arterial tortuosity syndrome [RCV001451958] Chr20:46725717 [GRCh38]
Chr20:45354356 [GRCh37]
Chr20:20q13.12
likely benign
NM_030777.4(SLC2A10):c.645G>C (p.Arg215=) single nucleotide variant Arterial tortuosity syndrome [RCV001482494] Chr20:46725681 [GRCh38]
Chr20:45354320 [GRCh37]
Chr20:20q13.12
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13444 AgrOrtholog
COSMIC SLC2A10 COSMIC
Ensembl Genes ENSG00000197496 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000352216 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478679 UniProtKB/TrEMBL
Ensembl Transcript ENST00000359271 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000486000 UniProtKB/TrEMBL
GTEx ENSG00000197496 GTEx
HGNC ID HGNC:13444 ENTREZGENE
Human Proteome Map SLC2A10 Human Proteome Map
InterPro MFS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_sugar_transport-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sugar/inositol_transpt UniProtKB/Swiss-Prot
  Sugar_transporter_CS UniProtKB/Swiss-Prot
KEGG Report hsa:81031 UniProtKB/Swiss-Prot
NCBI Gene 81031 ENTREZGENE
OMIM 208050 OMIM
  606145 OMIM
Pfam Sugar_tr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37769 PharmGKB
PRINTS SUGRTRNSPORT UniProtKB/Swiss-Prot
PROSITE MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUGAR_TRANSPORT_1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WUH5_HUMAN UniProtKB/TrEMBL
  GTR10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8TDC7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K4J6 UniProtKB/Swiss-Prot
  Q3MIX5 UniProtKB/Swiss-Prot
  Q9H4I6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC2A10  solute carrier family 2 member 10    solute carrier family 2 (facilitated glucose transporter), member 10  Symbol and/or name change 5135510 APPROVED