AGXT (alanine--glyoxylate and serine--pyruvate aminotransferase) - Rat Genome Database
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Gene: AGXT (alanine--glyoxylate and serine--pyruvate aminotransferase) Homo sapiens
Analyze
Symbol: AGXT
Name: alanine--glyoxylate and serine--pyruvate aminotransferase
RGD ID: 736336
HGNC Page HGNC
Description: Exhibits several functions, including alanine-glyoxylate transaminase activity; anion binding activity; and protein homodimerization activity. Involved in carboxylic acid metabolic process. Localizes to peroxisomal matrix. Implicated in primary hyperoxaluria type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AGT; AGT1; AGXT1; alanine--glyoxylate aminotransferase; alanine-glyoxylate aminotransferase; hepatic peroxisomal alanine:glyoxylate aminotransferase; L-alanine: glyoxylate aminotransferase 1; PH1; serine--pyruvate aminotransferase; serine-pyruvate aminotransferase; serine:pyruvate aminotransferase; SPAT; SPT; TLH6
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 Ensembl2240,868,824 - 240,880,502 (+)EnsemblGRCh38hg38GRCh38
GRCh382240,868,824 - 240,880,500 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,808,241 - 241,819,917 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,456,835 - 241,467,210 (+)NCBINCBI36hg18NCBI36
Build 342241,528,151 - 241,538,527NCBI
Celera2235,480,100 - 235,491,174 (+)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2233,568,172 - 233,579,109 (+)NCBIHuRef
CHM1_12241,814,212 - 241,824,586 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,7-dihydropurine-6-thione  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxyphenyl retinamide  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
carbaryl  (ISO)
choline  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
diazinon  (EXP)
disulfiram  (EXP)
doxorubicin  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
Heliotrine  (EXP)
mercaptopurine  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nimesulide  (ISO)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
purine-6-thiol  (ISO)
quercetin  (EXP,ISO)
rotenone  (ISO)
senecionine  (EXP)
Senkirkine  (EXP)
sodium arsenite  (EXP,ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topiramate  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

References

Additional References at PubMed
PMID:1301173   PMID:1349575   PMID:1703535   PMID:1961759   PMID:2045108   PMID:2253628   PMID:2363689   PMID:3418107   PMID:3709805   PMID:7813517   PMID:8034295   PMID:8507692  
PMID:8906307   PMID:9053548   PMID:9192270   PMID:10394939   PMID:10453743   PMID:10862087   PMID:10960483   PMID:11085934   PMID:11562405   PMID:12169688   PMID:12477932   PMID:12777626  
PMID:12899834   PMID:15253729   PMID:15327387   PMID:15365967   PMID:15480793   PMID:15802217   PMID:15849466   PMID:15911627   PMID:15956068   PMID:15961951   PMID:16169070   PMID:16712791  
PMID:16912707   PMID:16971151   PMID:17110443   PMID:17460142   PMID:17495019   PMID:17696873   PMID:18289107   PMID:18448374   PMID:18468259   PMID:18492492   PMID:18782763   PMID:19155213  
PMID:19451220   PMID:19479957   PMID:19887726   PMID:20016466   PMID:20020206   PMID:20056599   PMID:20059472   PMID:20133649   PMID:20178365   PMID:20208150   PMID:20301460   PMID:20308030  
PMID:20462248   PMID:20713123   PMID:20734048   PMID:20877624   PMID:21103899   PMID:21612638   PMID:21873635   PMID:21988832   PMID:22018727   PMID:22198249   PMID:22201765   PMID:22529745  
PMID:23229545   PMID:23589421   PMID:23810941   PMID:23956997   PMID:24012869   PMID:24055001   PMID:24205397   PMID:24344980   PMID:24718375   PMID:24816252   PMID:24934730   PMID:24988064  
PMID:24990153   PMID:25237136   PMID:25620715   PMID:26149463   PMID:26383609   PMID:26693850   PMID:26854734   PMID:27179589   PMID:27568336   PMID:27644547   PMID:27659337   PMID:27720751  
PMID:27915025   PMID:27935012   PMID:28161266   PMID:28597972   PMID:29110180   PMID:29456205   PMID:29883780   PMID:30341509   PMID:30541997   PMID:30676254   PMID:30852714   PMID:31771612  
PMID:32296183   PMID:32569165  


Genomics

Comparative Map Data
AGXT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2240,868,824 - 240,880,502 (+)EnsemblGRCh38hg38GRCh38
GRCh382240,868,824 - 240,880,500 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,808,241 - 241,819,917 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,456,835 - 241,467,210 (+)NCBINCBI36hg18NCBI36
Build 342241,528,151 - 241,538,527NCBI
Celera2235,480,100 - 235,491,174 (+)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2233,568,172 - 233,579,109 (+)NCBIHuRef
CHM1_12241,814,212 - 241,824,586 (+)NCBICHM1_1
Agxt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,062,962 - 93,073,143 (+)NCBIGRCm39mm39
GRCm39 Ensembl193,062,962 - 93,073,143 (+)Ensembl
GRCm38193,135,240 - 93,145,421 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,135,240 - 93,145,421 (+)EnsemblGRCm38mm10GRCm38
MGSCv37195,031,853 - 95,041,998 (+)NCBIGRCm37mm9NCBIm37
MGSCv36194,965,651 - 94,988,099 (+)NCBImm8
Celera196,079,940 - 96,090,082 (+)NCBICelera
Cytogenetic Map1DNCBI
cM Map147.0NCBI
Agxt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2993,675,384 - 93,685,337 (+)NCBI
Rnor_6.0 Ensembl9100,281,339 - 100,291,291 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.09100,281,339 - 100,291,292 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0999,939,444 - 99,949,397 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4992,412,128 - 92,422,075 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1992,616,896 - 92,626,844 (+)NCBI
Celera991,210,785 - 91,220,737 (+)NCBICelera
Cytogenetic Map9q36NCBI
Agxt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955542710,005 - 717,741 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955542710,506 - 720,564 (-)NCBIChiLan1.0ChiLan1.0
AGXT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B246,928,784 - 246,939,837 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B246,928,784 - 246,939,837 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B128,125,289 - 128,137,091 (+)NCBIMhudiblu_PPA_v0panPan3
AGXT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12550,968,291 - 50,976,089 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2551,181,404 - 51,189,176 (+)NCBI
ROS_Cfam_1.02551,163,250 - 51,171,015 (+)NCBI
UMICH_Zoey_3.12551,004,270 - 51,012,034 (+)NCBI
UNSW_CanFamBas_1.02550,750,660 - 50,758,423 (+)NCBI
UU_Cfam_GSD_1.02551,026,487 - 51,034,252 (+)NCBI
Agxt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303192,351,908 - 192,362,526 (+)NCBI
SpeTri2.0NW_004936745856,915 - 867,477 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGXT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15139,720,612 - 139,730,736 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115139,720,648 - 139,730,737 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215157,616,991 - 157,627,404 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AGXT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110126,933,711 - 126,943,980 (+)NCBI
ChlSab1.1 Ensembl10126,933,835 - 126,944,354 (+)Ensembl
Agxt
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248475,066,356 - 5,073,538 (+)NCBI

Position Markers
D14S779  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q37.3UniSTS
Marshfield Genetic Map1495.89UniSTS
Marshfield Genetic Map1495.89RGD
RH68691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,818,418 - 241,818,521UniSTSGRCh37
Build 362241,467,091 - 241,467,194RGDNCBI36
Celera2235,491,056 - 235,491,159RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,578,991 - 233,579,094UniSTS
GeneMap99-GB4 RH Map2742.01UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1220
Count of miRNA genes:684
Interacting mature miRNAs:808
Transcripts:ENST00000307503, ENST00000470255, ENST00000472436, ENST00000476698
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 219 219 219
Medium 1 36 205 204 39 204 6 1 1 43 8 6 1
Low 386 280 149 28 444 18 251 49 70 162 226 125 10 395 70 3
Below cutoff 1373 1478 824 129 679 22 2693 1185 2175 156 962 967 118 730 1555 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA857309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB292648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF191687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF348451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB156891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S71388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000307503   ⟹   ENSP00000302620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,868,824 - 240,880,500 (+)Ensembl
RefSeq Acc Id: ENST00000470255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,876,913 - 240,880,502 (+)Ensembl
RefSeq Acc Id: ENST00000472436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,868,846 - 240,873,468 (+)Ensembl
RefSeq Acc Id: ENST00000476698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,871,189 - 240,876,013 (+)Ensembl
RefSeq Acc Id: NM_000030   ⟹   NP_000021
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,868,824 - 240,880,500 (+)NCBI
GRCh372241,808,162 - 241,818,536 (+)ENTREZGENE
Build 362241,456,835 - 241,467,210 (+)NCBI Archive
HuRef2233,568,172 - 233,579,109 (+)ENTREZGENE
CHM1_12241,814,212 - 241,824,586 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000021   ⟸   NM_000030
- UniProtKB: P21549 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000302620   ⟸   ENST00000307503
Protein Domains
Aminotran_5

Promoters
RGD ID:6863324
Promoter ID:EPDNEW_H4827
Type:initiation region
Name:AGXT_1
Description:alanine-glyoxylate aminotransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,868,824 - 240,868,884EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) single nucleotide variant Primary hyperoxaluria [RCV000589490]|Primary hyperoxaluria, type I [RCV000032681]|not provided [RCV000432954] Chr2:240871433 [GRCh38]
Chr2:241810850 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) single nucleotide variant Primary hyperoxaluria, type I [RCV000032682]|not specified [RCV000247828] Chr2:240878099 [GRCh38]
Chr2:241817516 [GRCh37]
Chr2:2q37.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
AGXT, 1-BP INS, 33C insertion Primary hyperoxaluria, type I [RCV000032683] Chr2:2q36-q37 pathogenic
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000005994]|not provided [RCV000420710] Chr2:240873995 [GRCh38]
Chr2:241813412 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000005995]|not specified [RCV000173049] Chr2:240868897 [GRCh38]
Chr2:241808314 [GRCh37]
Chr2:2q37.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000005996] Chr2:240869202 [GRCh38]
Chr2:241808619 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) single nucleotide variant Primary hyperoxaluria, type I [RCV000005997] Chr2:240869249 [GRCh38]
Chr2:241808666 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) single nucleotide variant Nephrocalcinosis [RCV000662315]|Primary hyperoxaluria, type I [RCV000005998]|not provided [RCV001221086] Chr2:240868986 [GRCh38]
Chr2:241808403 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) single nucleotide variant Primary hyperoxaluria [RCV000779687]|Primary hyperoxaluria, type I [RCV000005999]|not provided [RCV000727639] Chr2:240871379 [GRCh38]
Chr2:241810796 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) single nucleotide variant Nephrocalcinosis [RCV000662316]|Primary hyperoxaluria [RCV000586265]|Primary hyperoxaluria, type I [RCV000006000]|not provided [RCV001042614] Chr2:240875159 [GRCh38]
Chr2:241814576 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) single nucleotide variant Primary hyperoxaluria, type I [RCV000006001]|not provided [RCV001070457] Chr2:240875125 [GRCh38]
Chr2:241814542 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.698G>A (p.Arg233His) single nucleotide variant Primary hyperoxaluria, type I [RCV000006002] Chr2:240875126 [GRCh38]
Chr2:241814543 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000006003] Chr2:240875166 [GRCh38]
Chr2:241814583 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000006004] Chr2:240871391 [GRCh38]
Chr2:241810808 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 copy number loss See cases [RCV000052702] Chr2:240067206..242086301 [GRCh38]
Chr2:241006623..243028452 [GRCh37]
Chr2:240655296..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 copy number loss See cases [RCV000052703] Chr2:240444819..242086301 [GRCh38]
Chr2:241384236..243028452 [GRCh37]
Chr2:241032909..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 copy number loss See cases [RCV000052704] Chr2:240506951..242065349 [GRCh38]
Chr2:241446368..243007500 [GRCh37]
Chr2:241095041..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3 copy number gain See cases [RCV000052979] Chr2:240712924..241408725 [GRCh38]
Chr2:241652341..242348140 [GRCh37]
Chr2:241301014..241996813 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240403667-240910830)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053816]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053816]|See cases [RCV000053816] Chr2:240403667..240910830 [GRCh38]
Chr2:241343084..241850247 [GRCh37]
Chr2:240991757..241498920 [NCBI36]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro) single nucleotide variant Nephrocalcinosis [RCV000662314] Chr2:240878721 [GRCh38]
Chr2:241818138 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) single nucleotide variant Primary hyperoxaluria, type I [RCV000186223]|not specified [RCV000597486] Chr2:240873011 [GRCh38]
Chr2:241812428 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance|not provided
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) single nucleotide variant Primary hyperoxaluria, type I [RCV000186224]|not specified [RCV000594889] Chr2:240873044 [GRCh38]
Chr2:241812461 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance|not provided
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) single nucleotide variant Primary hyperoxaluria, type I [RCV000186256]|not provided [RCV000966394]|not specified [RCV000180093] Chr2:240875994 [GRCh38]
Chr2:241815411 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance
NM_000030.3(AGXT):c.654G>A (p.Ser218=) single nucleotide variant Primary hyperoxaluria, type I [RCV000186247]|not provided [RCV000843410]|not specified [RCV000179243] Chr2:240874036 [GRCh38]
Chr2:241813453 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance
NM_000030.3(AGXT):c.33dup (p.Lys12fs) duplication Primary hyperoxaluria [RCV000779688]|Primary hyperoxaluria, type I [RCV000128800]|not provided [RCV000800941] Chr2:240868890..240868891 [GRCh38]
Chr2:241808307..241808308 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) single nucleotide variant Primary hyperoxaluria, type I [RCV000128801] Chr2:240873014 [GRCh38]
Chr2:241812431 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 copy number gain See cases [RCV000133659] Chr2:238756369..241771051 [GRCh38]
Chr2:239665010..242710466 [GRCh37]
Chr2:239329749..242359139 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 copy number loss See cases [RCV000135842] Chr2:240171137..242065208 [GRCh38]
Chr2:241110554..243007359 [GRCh37]
Chr2:240759227..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 copy number loss See cases [RCV000135545] Chr2:240507151..242065208 [GRCh38]
Chr2:241446568..243007359 [GRCh37]
Chr2:241095241..242656032 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 copy number loss See cases [RCV000136686] Chr2:240067206..242126245 [GRCh38]
Chr2:241006623..243059659 [GRCh37]
Chr2:240655296..242717069 [NCBI36]
Chr2:2q37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 copy number loss See cases [RCV000138565] Chr2:240187901..242126245 [GRCh38]
Chr2:241127318..243059659 [GRCh37]
Chr2:240775991..242717069 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 copy number loss See cases [RCV000140648] Chr2:240228628..242126245 [GRCh38]
Chr2:241168045..243059659 [GRCh37]
Chr2:240816718..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 copy number loss See cases [RCV000141077] Chr2:240671231..242092126 [GRCh38]
Chr2:241610648..243034277 [GRCh37]
Chr2:241259321..242682950 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 copy number loss See cases [RCV000141691] Chr2:239507342..241841232 [GRCh38]
Chr2:240429036..242783384 [GRCh37]
Chr2:240093973..242432057 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 copy number loss See cases [RCV000143423] Chr2:239642965..241841232 [GRCh38]
Chr2:240564659..242783384 [GRCh37]
Chr2:240229596..242432057 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) single nucleotide variant Primary hyperoxaluria, type I [RCV000169046]|not provided [RCV001066143] Chr2:240871406 [GRCh38]
Chr2:241810823 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.777-1G>C single nucleotide variant Primary hyperoxaluria [RCV001194150]|Primary hyperoxaluria, type I [RCV000169101]|not provided [RCV001054661] Chr2:240875934 [GRCh38]
Chr2:241815351 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.33del (p.Lys12fs) deletion Primary hyperoxaluria [RCV001192774]|Primary hyperoxaluria, type I [RCV000169102]|not provided [RCV000794507] Chr2:240868891 [GRCh38]
Chr2:241808308 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Single allele variation Primary hyperoxaluria, type I [RCV000186246] Chr2:2q37.3 uncertain significance
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000169219] Chr2:240869306 [GRCh38]
Chr2:241808723 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000169249]|not provided [RCV000812967] Chr2:240869326 [GRCh38]
Chr2:241808743 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000169258] Chr2:240875180 [GRCh38]
Chr2:241814597 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) single nucleotide variant Primary hyperoxaluria, type I [RCV000169332]|not provided [RCV001054309] Chr2:240868971 [GRCh38]
Chr2:241808388 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000169358] Chr2:240874035 [GRCh38]
Chr2:241813452 [GRCh37]
Chr2:2q37.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) single nucleotide variant Primary hyperoxaluria, type I [RCV000169364] Chr2:240868987 [GRCh38]
Chr2:241808404 [GRCh37]
Chr2:2q37.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) single nucleotide variant Primary hyperoxaluria [RCV001328117]|Primary hyperoxaluria, type I [RCV000169365]|not provided [RCV001067841] Chr2:240878128 [GRCh38]
Chr2:241817545 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000169408]|not provided [RCV001236818] Chr2:240869350 [GRCh38]
Chr2:241808767 [GRCh37]
Chr2:2q37.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000169425] Chr2:240875165 [GRCh38]
Chr2:241814582 [GRCh37]
Chr2:2q37.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000169439]|not provided [RCV000816747] Chr2:240873022 [GRCh38]
Chr2:241812439 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.976del (p.Val326fs) deletion Primary hyperoxaluria [RCV001328354]|Primary hyperoxaluria, type I [RCV000169587] Chr2:240878055 [GRCh38]
Chr2:241817472 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 copy number gain See cases [RCV000167564] Chr2:239873381..243006013 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) single nucleotide variant Primary hyperoxaluria, type I [RCV000186218]|not specified [RCV000314232] Chr2:240868891 [GRCh38]
Chr2:241808308 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance
NM_000030.3(AGXT):c.27C>A (p.Thr9=) single nucleotide variant Primary hyperoxaluria, type I [RCV000186219]|not provided [RCV000939994] Chr2:240868892 [GRCh38]
Chr2:241808309 [GRCh37]
Chr2:2q37.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000030.3(AGXT):c.32C>A (p.Pro11His) single nucleotide variant Primary hyperoxaluria, type I [RCV000186220]|not provided [RCV000884267] Chr2:240868897 [GRCh38]
Chr2:241808314 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186221]|not provided [RCV000881725] Chr2:240868900 [GRCh38]
Chr2:241808317 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) single nucleotide variant Primary hyperoxaluria, type I [RCV000186222]|not specified [RCV000280164] Chr2:240868930 [GRCh38]
Chr2:241808347 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance
NM_000030.3(AGXT):c.165+16A>G single nucleotide variant Primary hyperoxaluria, type I [RCV000186225]|not provided [RCV000589389]|not specified [RCV000252777] Chr2:240869046 [GRCh38]
Chr2:241808463 [GRCh37]
Chr2:2q37.3
benign|uncertain significance
NM_000030.3(AGXT):c.166-57C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186226] Chr2:240869113 [GRCh38]
Chr2:241808530 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.166-56C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186227] Chr2:240869114 [GRCh38]
Chr2:241808531 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.165+19_166-48dup duplication Primary hyperoxaluria, type I [RCV000186228]|not provided [RCV000586162] Chr2:240869043..240869044 [GRCh38]
Chr2:241808460..241808461 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
NM_000030.3(AGXT):c.165+44T>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186229] Chr2:240869074 [GRCh38]
Chr2:241808491 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.165+40A>C single nucleotide variant Primary hyperoxaluria, type I [RCV000186230] Chr2:240869070 [GRCh38]
Chr2:241808487 [GRCh37]
Chr2:2q37.3
benign|uncertain significance
NM_000030.3(AGXT):c.166-54C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186231] Chr2:240869116 [GRCh38]
Chr2:241808533 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.166-47T>C single nucleotide variant Primary hyperoxaluria, type I [RCV000186232] Chr2:240869123 [GRCh38]
Chr2:241808540 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.166-14C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186233]|not specified [RCV000243175] Chr2:240869156 [GRCh38]
Chr2:241808573 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance
NM_000030.3(AGXT):c.264C>T (p.Ala88=) single nucleotide variant Primary hyperoxaluria, type I [RCV000186234]|not provided [RCV000839696]|not specified [RCV000251471] Chr2:240869268 [GRCh38]
Chr2:241808685 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) single nucleotide variant Primary hyperoxaluria, type I [RCV000186235] Chr2:240869300 [GRCh38]
Chr2:241808717 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.358+13C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186236]|not specified [RCV000248343] Chr2:240869375 [GRCh38]
Chr2:241808792 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance
NM_000030.3(AGXT):c.358+56_358+64del microsatellite Primary hyperoxaluria, type I [RCV000186237] Chr2:240869409..240869417 [GRCh38]
Chr2:241808826..241808834 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.385G>C (p.Asp129His) single nucleotide variant Primary hyperoxaluria, type I [RCV000186238] Chr2:240870670 [GRCh38]
Chr2:241810087 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.423+29C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186239] Chr2:240870737 [GRCh38]
Chr2:241810154 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.423+36A>C single nucleotide variant Primary hyperoxaluria, type I [RCV000186240] Chr2:240870744 [GRCh38]
Chr2:241810161 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.423+45T>G single nucleotide variant Primary hyperoxaluria, type I [RCV000186241] Chr2:240870753 [GRCh38]
Chr2:241810170 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.424-12dup duplication Primary hyperoxaluria, type I [RCV000186242] Chr2:240871334..240871335 [GRCh38]
Chr2:241810751..241810752 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.424-16G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186243] Chr2:240871333 [GRCh38]
Chr2:241810750 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.489G>A (p.Leu163=) single nucleotide variant Primary hyperoxaluria [RCV000357381]|Primary hyperoxaluria, type I [RCV000186244]|not provided [RCV000974765]|not specified [RCV000251696] Chr2:240871414 [GRCh38]
Chr2:241810831 [GRCh37]
Chr2:2q37.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000030.3(AGXT):c.524+91C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186245] Chr2:240871540 [GRCh38]
Chr2:241810957 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.680+17C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186248]|not specified [RCV000248666] Chr2:240874079 [GRCh38]
Chr2:241813496 [GRCh37]
Chr2:2q37.3
benign|uncertain significance
NM_000030.3(AGXT):c.680+75G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186249] Chr2:240874137 [GRCh38]
Chr2:241813554 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.680+130C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186250] Chr2:240874192 [GRCh38]
Chr2:241813609 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.681-94G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186251] Chr2:240875015 [GRCh38]
Chr2:241814432 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.705G>A (p.Thr235=) single nucleotide variant Primary hyperoxaluria, type I [RCV000186252]|not provided [RCV000946703] Chr2:240875133 [GRCh38]
Chr2:241814550 [GRCh37]
Chr2:2q37.3
benign|likely benign|uncertain significance
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) single nucleotide variant Primary hyperoxaluria, type I [RCV000186253] Chr2:240875170 [GRCh38]
Chr2:241814587 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.777-44A>G single nucleotide variant Primary hyperoxaluria, type I [RCV000186254] Chr2:240875891 [GRCh38]
Chr2:241815308 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.777-45C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186255] Chr2:240875890 [GRCh38]
Chr2:241815307 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.837T>G (p.Ile279Met) single nucleotide variant Primary hyperoxaluria, type I [RCV000186257] Chr2:240875995 [GRCh38]
Chr2:241815412 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) single nucleotide variant Primary hyperoxaluria, type I [RCV000186258]|not provided [RCV000946704] Chr2:240875997 [GRCh38]
Chr2:241815414 [GRCh37]
Chr2:2q37.3
benign|uncertain significance
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186259] Chr2:240876003 [GRCh38]
Chr2:241815420 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.846+52G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186260] Chr2:240876056 [GRCh38]
Chr2:241815473 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) single nucleotide variant Primary hyperoxaluria, type I [RCV000186261] Chr2:240877555 [GRCh38]
Chr2:241816972 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) single nucleotide variant Primary hyperoxaluria, type I [RCV000186262]|not provided [RCV000428366] Chr2:240877573 [GRCh38]
Chr2:241816990 [GRCh37]
Chr2:2q37.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000030.3(AGXT):c.943-117C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186263] Chr2:240877905 [GRCh38]
Chr2:241817322 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) single nucleotide variant Primary hyperoxaluria, type I [RCV000186264]|not provided [RCV000974721]|not specified [RCV000245721] Chr2:240878055 [GRCh38]
Chr2:241817472 [GRCh37]
Chr2:2q37.3
benign|uncertain significance
NM_000030.3(AGXT):c.1072-91G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186265] Chr2:240878623 [GRCh38]
Chr2:241818040 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) single nucleotide variant Primary hyperoxaluria, type I [RCV000186266] Chr2:240878784 [GRCh38]
Chr2:241818201 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) single nucleotide variant Primary hyperoxaluria, type I [RCV000186267] Chr2:240878816 [GRCh38]
Chr2:241818233 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.*19G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186268] Chr2:240878840 [GRCh38]
Chr2:241818257 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
NM_000030.3(AGXT):c.*41C>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186269] Chr2:240878862 [GRCh38]
Chr2:241818279 [GRCh37]
Chr2:2q37.3
benign|uncertain significance
NM_000030.3(AGXT):c.*289A>C single nucleotide variant Primary hyperoxaluria, type I [RCV000186270] Chr2:240879110 [GRCh38]
Chr2:241818527 [GRCh37]
Chr2:2q37.3
benign|uncertain significance
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) single nucleotide variant Primary hyperoxaluria, type I [RCV000186271]|not provided [RCV001061218] Chr2:240868867 [GRCh38]
Chr2:241808284 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.3G>T (p.Met1Ile) single nucleotide variant Primary hyperoxaluria, type I [RCV000186272] Chr2:240868868 [GRCh38]
Chr2:241808285 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.22G>C (p.Val8Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186273] Chr2:240868887 [GRCh38]
Chr2:241808304 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser) single nucleotide variant Primary hyperoxaluria, type I [RCV000186274] Chr2:240868893 [GRCh38]
Chr2:241808310 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186275] Chr2:240868897 [GRCh38]
Chr2:241808314 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.74T>G (p.Leu25Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186276] Chr2:240868939 [GRCh38]
Chr2:241808356 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186277] Chr2:240868942 [GRCh38]
Chr2:241808359 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.107G>A (p.Arg36His) single nucleotide variant Primary hyperoxaluria, type I [RCV000186278] Chr2:240868972 [GRCh38]
Chr2:241808389 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.122G>A (p.Gly41Glu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186279] Chr2:240868987 [GRCh38]
Chr2:241808404 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.125G>A (p.Gly42Glu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186280] Chr2:240868990 [GRCh38]
Chr2:241808407 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186281] Chr2:240868995 [GRCh38]
Chr2:241808412 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186282]|not provided [RCV001067805] Chr2:240869004 [GRCh38]
Chr2:241808421 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) single nucleotide variant Primary hyperoxaluria, type I [RCV000186283] Chr2:240869171 [GRCh38]
Chr2:241808588 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) single nucleotide variant Primary hyperoxaluria, type I [RCV000186284] Chr2:240869179 [GRCh38]
Chr2:241808596 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186285] Chr2:240869191 [GRCh38]
Chr2:241808608 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.205C>T (p.Gln69Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186286] Chr2:240869209 [GRCh38]
Chr2:241808626 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.209C>A (p.Thr70Asn) single nucleotide variant Primary hyperoxaluria, type I [RCV000186287] Chr2:240869213 [GRCh38]
Chr2:241808630 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186288] Chr2:240869246 [GRCh38]
Chr2:241808663 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186289] Chr2:240869246 [GRCh38]
Chr2:241808663 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186290] Chr2:240869248 [GRCh38]
Chr2:241808665 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.248A>G (p.His83Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186291] Chr2:240869252 [GRCh38]
Chr2:241808669 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp) single nucleotide variant Primary hyperoxaluria, type I [RCV000186292] Chr2:240869258 [GRCh38]
Chr2:241808675 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys) single nucleotide variant Primary hyperoxaluria, type I [RCV000186293]|not provided [RCV001352204] Chr2:240869287 [GRCh38]
Chr2:241808704 [GRCh37]
Chr2:2q37.3
pathogenic|uncertain significance
NM_000030.3(AGXT):c.323G>A (p.Trp108Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186294] Chr2:240869327 [GRCh38]
Chr2:241808744 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys) single nucleotide variant Primary hyperoxaluria, type I [RCV000186295] Chr2:240869328 [GRCh38]
Chr2:241808745 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.326G>T (p.Gly109Val) single nucleotide variant Primary hyperoxaluria, type I [RCV000186296] Chr2:240869330 [GRCh38]
Chr2:241808747 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186297] Chr2:240869335 [GRCh38]
Chr2:241808752 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) single nucleotide variant Primary hyperoxaluria, type I [RCV000186298] Chr2:240869336 [GRCh38]
Chr2:241808753 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) single nucleotide variant Primary hyperoxaluria, type I [RCV000186299] Chr2:240869339 [GRCh38]
Chr2:241808756 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186300] Chr2:240869353 [GRCh38]
Chr2:241808770 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) single nucleotide variant Primary hyperoxaluria, type I [RCV000186301]|not provided [RCV000346525] Chr2:240869356 [GRCh38]
Chr2:241808773 [GRCh37]
Chr2:2q37.3
pathogenic|uncertain significance
NM_000030.3(AGXT):c.353G>A (p.Arg118His) single nucleotide variant Primary hyperoxaluria, type I [RCV000186302] Chr2:240869357 [GRCh38]
Chr2:241808774 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) single nucleotide variant Primary hyperoxaluria [RCV001328116]|Primary hyperoxaluria, type I [RCV000186303]|not provided [RCV000818752] Chr2:240870649 [GRCh38]
Chr2:241810066 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.371A>C (p.His124Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186304] Chr2:240870656 [GRCh38]
Chr2:241810073 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186305] Chr2:240870694 [GRCh38]
Chr2:241810111 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp) single nucleotide variant Primary hyperoxaluria, type I [RCV000186306] Chr2:240870708 [GRCh38]
Chr2:241810125 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.449T>C (p.Leu150Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186307] Chr2:240871374 [GRCh38]
Chr2:241810791 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.457T>G (p.Leu153Val) single nucleotide variant Primary hyperoxaluria, type I [RCV000186308] Chr2:240871382 [GRCh38]
Chr2:241810799 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186309]|not provided [RCV001233993] Chr2:240871398 [GRCh38]
Chr2:241810815 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.473C>A (p.Ser158Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186310] Chr2:240871398 [GRCh38]
Chr2:241810815 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) single nucleotide variant Nephrocalcinosis [RCV000662317]|Primary hyperoxaluria, type I [RCV000186311]|not provided [RCV001069631] Chr2:240871406 [GRCh38]
Chr2:241810823 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186312] Chr2:240871406 [GRCh38]
Chr2:241810823 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186313] Chr2:240871422 [GRCh38]
Chr2:241810839 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr) single nucleotide variant Primary hyperoxaluria, type I [RCV000186314] Chr2:240871443 [GRCh38]
Chr2:241810860 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) single nucleotide variant Primary hyperoxaluria [RCV001192775]|Primary hyperoxaluria, type I [RCV000186315] Chr2:240871444 [GRCh38]
Chr2:241810861 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) single nucleotide variant Primary hyperoxaluria, type I [RCV000186316] Chr2:240872987 [GRCh38]
Chr2:241812404 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) single nucleotide variant Primary hyperoxaluria, type I [RCV000186317] Chr2:240873001 [GRCh38]
Chr2:241812418 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.583A>C (p.Met195Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186318] Chr2:240873037 [GRCh38]
Chr2:241812454 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186319]|not provided [RCV001036463] Chr2:240873038 [GRCh38]
Chr2:241812455 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser) single nucleotide variant Primary hyperoxaluria, type I [RCV000186320] Chr2:240873049 [GRCh38]
Chr2:241812466 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186321]|not provided [RCV001222818] Chr2:240873985 [GRCh38]
Chr2:241813402 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.605T>A (p.Ile202Asn) single nucleotide variant Primary hyperoxaluria, type I [RCV000186322] Chr2:240873987 [GRCh38]
Chr2:241813404 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186323] Chr2:240873994 [GRCh38]
Chr2:241813411 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186324] Chr2:240873996 [GRCh38]
Chr2:241813413 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.614C>A (p.Ser205Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186325] Chr2:240873996 [GRCh38]
Chr2:241813413 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.628G>C (p.Ala210Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186326] Chr2:240874010 [GRCh38]
Chr2:241813427 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186327] Chr2:240874028 [GRCh38]
Chr2:241813445 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.661T>C (p.Ser221Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186328] Chr2:240874043 [GRCh38]
Chr2:241813460 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186329] Chr2:240875126 [GRCh38]
Chr2:241814543 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.727G>C (p.Asp243His) single nucleotide variant Primary hyperoxaluria, type I [RCV000186330] Chr2:240875155 [GRCh38]
Chr2:241814572 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.753G>A (p.Trp251Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186331] Chr2:240875181 [GRCh38]
Chr2:241814598 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186332]|not provided [RCV001236934] Chr2:240875185 [GRCh38]
Chr2:241814602 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.783T>A (p.His261Gln) single nucleotide variant Primary hyperoxaluria, type I [RCV000186333] Chr2:240875941 [GRCh38]
Chr2:241815358 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186334] Chr2:240875964 [GRCh38]
Chr2:241815381 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) single nucleotide variant Primary hyperoxaluria, type I [RCV000186335] Chr2:240875980 [GRCh38]
Chr2:241815397 [GRCh37]
Chr2:2q37.3
pathogenic|uncertain significance
NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000186336] Chr2:240875981 [GRCh38]
Chr2:241815398 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186337] Chr2:240876002 [GRCh38]
Chr2:241815419 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.846G>C (p.Gln282His) single nucleotide variant Primary hyperoxaluria, type I [RCV000186338] Chr2:240876004 [GRCh38]
Chr2:241815421 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.851T>C (p.Leu284Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186339] Chr2:240877541 [GRCh38]
Chr2:241816958 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.853G>T (p.Glu285Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186340] Chr2:240877543 [GRCh38]
Chr2:241816960 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186342] Chr2:240877581 [GRCh38]
Chr2:241816998 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.893T>C (p.Leu298Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186343] Chr2:240877583 [GRCh38]
Chr2:241817000 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186344] Chr2:240877597 [GRCh38]
Chr2:241817014 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186345] Chr2:240877612 [GRCh38]
Chr2:241817029 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.947T>C (p.Leu316Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186346] Chr2:240878026 [GRCh38]
Chr2:241817443 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.956C>T (p.Pro319Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000186347] Chr2:240878035 [GRCh38]
Chr2:241817452 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186348] Chr2:240878075 [GRCh38]
Chr2:241817492 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186349] Chr2:240878076 [GRCh38]
Chr2:241817493 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) single nucleotide variant Primary hyperoxaluria, type I [RCV000186350] Chr2:240878086 [GRCh38]
Chr2:241817503 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV000186351] Chr2:240878093 [GRCh38]
Chr2:241817510 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser) single nucleotide variant Primary hyperoxaluria, type I [RCV000186352] Chr2:240878124 [GRCh38]
Chr2:241817541 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186353] Chr2:240878718 [GRCh38]
Chr2:241818135 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) single nucleotide variant Primary hyperoxaluria, type I [RCV000186354] Chr2:240878721 [GRCh38]
Chr2:241818138 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr) single nucleotide variant Primary hyperoxaluria, type I [RCV000186355] Chr2:240878744 [GRCh38]
Chr2:241818161 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp) single nucleotide variant Primary hyperoxaluria, type I [RCV000186356] Chr2:240878790 [GRCh38]
Chr2:241818207 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro) single nucleotide variant Primary hyperoxaluria, type I [RCV000186357] Chr2:240878793 [GRCh38]
Chr2:241818210 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.358+1G>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186358] Chr2:240869363 [GRCh38]
Chr2:241808780 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.358+2T>G single nucleotide variant Primary hyperoxaluria, type I [RCV000186359] Chr2:240869364 [GRCh38]
Chr2:241808781 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.680+1G>C single nucleotide variant Primary hyperoxaluria, type I [RCV000186360] Chr2:240874063 [GRCh38]
Chr2:241813480 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.680+1G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186361] Chr2:240874063 [GRCh38]
Chr2:241813480 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.680+2T>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186362] Chr2:240874064 [GRCh38]
Chr2:241813481 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.680+5G>C single nucleotide variant Primary hyperoxaluria, type I [RCV000186363] Chr2:240874067 [GRCh38]
Chr2:241813484 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.776+1G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186364] Chr2:240875205 [GRCh38]
Chr2:241814622 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.776+1G>C single nucleotide variant Primary hyperoxaluria, type I [RCV000186365] Chr2:240875205 [GRCh38]
Chr2:241814622 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.846+1G>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186366]|not provided [RCV000806714] Chr2:240876005 [GRCh38]
Chr2:241815422 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.846+1G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186367] Chr2:240876005 [GRCh38]
Chr2:241815422 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.942+1G>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186368] Chr2:240877633 [GRCh38]
Chr2:241817050 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1071+1G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186369] Chr2:240878151 [GRCh38]
Chr2:241817568 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.166-1G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186370] Chr2:240869169 [GRCh38]
Chr2:241808586 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.424-2A>G single nucleotide variant Primary hyperoxaluria, type I [RCV000186371] Chr2:240871347 [GRCh38]
Chr2:241810764 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.525-1G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186372] Chr2:240872978 [GRCh38]
Chr2:241812395 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.596-2A>G single nucleotide variant Primary hyperoxaluria, type I [RCV000186373] Chr2:240873976 [GRCh38]
Chr2:241813393 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.777-2A>G single nucleotide variant Primary hyperoxaluria, type I [RCV000186374] Chr2:240875933 [GRCh38]
Chr2:241815350 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.847-1G>C single nucleotide variant Primary hyperoxaluria [RCV001269136]|Primary hyperoxaluria, type I [RCV000186375] Chr2:240877536 [GRCh38]
Chr2:241816953 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.847-3C>G single nucleotide variant Primary hyperoxaluria, type I [RCV000186376]|not provided [RCV000803735] Chr2:240877534 [GRCh38]
Chr2:241816951 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.943-1G>T single nucleotide variant Primary hyperoxaluria, type I [RCV000186377] Chr2:240878021 [GRCh38]
Chr2:241817438 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.943-1G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000186378] Chr2:240878021 [GRCh38]
Chr2:241817438 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn) indel Primary hyperoxaluria, type I [RCV000186379]|not provided [RCV001225511] Chr2:240868867..240868868 [GRCh38]
Chr2:241808284..241808285 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.32_33del (p.Pro11fs) deletion Primary hyperoxaluria, type I [RCV000186380] Chr2:240868891..240868892 [GRCh38]
Chr2:241808308..241808309 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.83del (p.Pro28fs) deletion Primary hyperoxaluria, type I [RCV000186381] Chr2:240868947 [GRCh38]
Chr2:241808364 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) duplication Primary hyperoxaluria [RCV001175458]|Primary hyperoxaluria, type I [RCV000186382] Chr2:240868980..240868981 [GRCh38]
Chr2:241808397..241808398 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.126del (p.Leu43fs) deletion Primary hyperoxaluria [RCV001174889]|Primary hyperoxaluria, type I [RCV000186383]|not provided [RCV001215991] Chr2:240868986 [GRCh38]
Chr2:241808403 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.215dup (p.Asn72fs) duplication Primary hyperoxaluria, type I [RCV000186384] Chr2:240869217..240869218 [GRCh38]
Chr2:241808634..241808635 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) duplication Primary hyperoxaluria, type I [RCV000186385] Chr2:240869224..240869225 [GRCh38]
Chr2:241808641..241808642 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.276del (p.Asn92fs) deletion Primary hyperoxaluria, type I [RCV000186386] Chr2:240869280 [GRCh38]
Chr2:241808697 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup) duplication Primary hyperoxaluria, type I [RCV000186387] Chr2:240869285..240869286 [GRCh38]
Chr2:241808702..241808703 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.327del (p.Gln110fs) deletion Primary hyperoxaluria, type I [RCV000186389] Chr2:240869327 [GRCh38]
Chr2:241808744 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.359-1_382del deletion Primary hyperoxaluria, type I [RCV000186390] Chr2:240870640..240870664 [GRCh38]
Chr2:241810057..241810081 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.416_418del (p.Val139del) deletion Primary hyperoxaluria, type I [RCV000186391] Chr2:240870699..240870701 [GRCh38]
Chr2:241810116..241810118 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) deletion Primary hyperoxaluria [RCV001192773]|Primary hyperoxaluria, type I [RCV000186392] Chr2:240871370..240871377 [GRCh38]
Chr2:241810787..241810794 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.445del (p.Val149fs) deletion Primary hyperoxaluria, type I [RCV000186393] Chr2:240871370 [GRCh38]
Chr2:241810787 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.460del (p.Thr154fs) deletion Primary hyperoxaluria, type I [RCV000186394] Chr2:240871384 [GRCh38]
Chr2:241810801 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn) indel Primary hyperoxaluria, type I [RCV000186395] Chr2:240871444..240871445 [GRCh38]
Chr2:241810861..241810862 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg) indel Primary hyperoxaluria, type I [RCV000186396] Chr2:240873011..240873016 [GRCh38]
Chr2:241812428..241812433 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.570del (p.Thr191fs) deletion Primary hyperoxaluria, type I [RCV000186397]|not provided [RCV001215806] Chr2:240873022 [GRCh38]
Chr2:241812439 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.577del (p.Leu193fs) deletion Primary hyperoxaluria, type I [RCV000186398]|not provided [RCV001238262] Chr2:240873026 [GRCh38]
Chr2:241812443 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000030.3(AGXT):c.577dup (p.Leu193fs) duplication Primary hyperoxaluria [RCV001192772]|Primary hyperoxaluria, type I [RCV000186399] Chr2:240873025..240873026 [GRCh38]
Chr2:241812442..241812443 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic
NM_000030.3(AGXT):c.642_645del (p.Pro215fs) deletion Primary hyperoxaluria, type I [RCV000186400] Chr2:240874024..240874027 [GRCh38]
Chr2:241813441..241813444 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.662_664del (p.Ser221del) deletion Primary hyperoxaluria, type I [RCV000186401] Chr2:240874042..240874044 [GRCh38]
Chr2:241813459..241813461 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.679_680+2del deletion Primary hyperoxaluria, type I [RCV000186402]|not provided [RCV001070865] Chr2:240874061..240874064 [GRCh38]
Chr2:241813478..241813481 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA indel Primary hyperoxaluria, type I [RCV000186403] Chr2:240874542..240875273 [GRCh38]
Chr2:241813959..241814690 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.725dup (p.Asp243fs) duplication Primary hyperoxaluria, type I [RCV000186404] Chr2:240875152..240875153 [GRCh38]
Chr2:241814569..241814570 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.744del (p.Asn249fs) deletion Primary hyperoxaluria, type I [RCV000186405] Chr2:240875171 [GRCh38]
Chr2:241814588 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys) indel Primary hyperoxaluria, type I [RCV000186406] Chr2:240875179..240875180 [GRCh38]
Chr2:241814596..241814597 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs) indel Primary hyperoxaluria, type I [RCV000186407] Chr2:240875956..240875960 [GRCh38]
Chr2:241815373..241815377 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.817_818AG[5] (p.Ser275fs) microsatellite Primary hyperoxaluria [RCV000780823]|Primary hyperoxaluria, type I [RCV000186408]|not provided [RCV001209339] Chr2:240875973..240875974 [GRCh38]
Chr2:241815390..241815391 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.834del (p.Ile279fs) deletion Primary hyperoxaluria, type I [RCV000186410] Chr2:240875992 [GRCh38]
Chr2:241815409 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.846+646_942+139del deletion Primary hyperoxaluria, type I [RCV000186411] Chr2:240876650..240877771 [GRCh38]
Chr2:241816067..241817188 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.860_861delinsCG (p.Ser287Thr) indel Primary hyperoxaluria, type I [RCV000186412] Chr2:240877550..240877551 [GRCh38]
Chr2:241816967..241816968 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.883_885GCG[1] (p.Ala296del) microsatellite Primary hyperoxaluria, type I [RCV000186413] Chr2:240877573..240877575 [GRCh38]
Chr2:241816990..241816992 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.919del (p.Leu307fs) deletion Primary hyperoxaluria, type I [RCV000186414] Chr2:240877609 [GRCh38]
Chr2:241817026 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.957_958CA[1] (p.Thr320fs) microsatellite Primary hyperoxaluria, type I [RCV000186415] Chr2:240878036..240878037 [GRCh38]
Chr2:241817453..241817454 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.969_970TG[1] (p.Val324fs) microsatellite Primary hyperoxaluria, type I [RCV000186416] Chr2:240878048..240878049 [GRCh38]
Chr2:241817465..241817466 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) deletion Primary hyperoxaluria, type I [RCV000186417] Chr2:240878062..240878067 [GRCh38]
Chr2:241817479..241817484 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1108_1109CG[1] (p.Asn372fs) microsatellite Primary hyperoxaluria, type I [RCV000186418] Chr2:240878750..240878751 [GRCh38]
Chr2:241818167..241818168 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.1123_1124CG[1] (p.Val376fs) microsatellite Primary hyperoxaluria, type I [RCV000186419] Chr2:240878765..240878766 [GRCh38]
Chr2:241818182..241818183 [GRCh37]
Chr2:2q37.3
pathogenic
NG_008005.1:g.(14407_14970)_(15375_?)del deletion Primary hyperoxaluria, type I [RCV000186420] Chr2:240878714..240879119 [GRCh38]
Chr2:241818131..241818536 [GRCh37]
Chr2:2q37.3
pathogenic
NG_008005.1:g.(?_5001)_(9305_10233)del deletion Primary hyperoxaluria, type I [RCV000186421] Chr2:240868745..240873049 [GRCh38]
Chr2:241808162..241812466 [GRCh37]
Chr2:2q37.3
pathogenic
NG_008005.1:g.(?_5001)_(11460_12190)del deletion Primary hyperoxaluria, type I [RCV000186422] Chr2:240868745..240875204 [GRCh38]
Chr2:241808162..241814621 [GRCh37]
Chr2:2q37.3
pathogenic
NG_008005.1:g.(7706_9235)_(15375_?)del deletion Primary hyperoxaluria, type I [RCV000186423] Chr2:240872979..240879119 [GRCh38]
Chr2:241812396..241818536 [GRCh37]
Chr2:2q37.3
pathogenic
NC_000002.12:g.(?_239048168)_(240879119_?)del deletion Primary hyperoxaluria, type I [RCV000186424] Chr2:239048168..240879119 [GRCh38]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.866G>A (p.Arg289His) single nucleotide variant Primary hyperoxaluria, type I [RCV000186341]|not provided [RCV000587981] Chr2:240877556 [GRCh38]
Chr2:241816973 [GRCh37]
Chr2:2q37.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.2(AGXT):c.-46G>A single nucleotide variant Primary hyperoxaluria [RCV000285244] Chr2:240868820 [GRCh38]
Chr2:241808237 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.732C>A (p.Ile244=) single nucleotide variant Primary hyperoxaluria, type I [RCV000269803]|not provided [RCV000958903]|not specified [RCV000253631] Chr2:240875160 [GRCh38]
Chr2:241814577 [GRCh37]
Chr2:2q37.3
benign|likely benign
NM_000030.2(AGXT):c.166-48_166-47ins74 insertion not specified [RCV000246537] Chr2:240869122..240869123 [GRCh38]
Chr2:241808539..241808540 [GRCh37]
Chr2:2q37.3
benign
NM_000030.3(AGXT):c.1071+13G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000335602] Chr2:240878163 [GRCh38]
Chr2:241817580 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.*160G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000336628] Chr2:240878981 [GRCh38]
Chr2:241818398 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.-14G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000380896] Chr2:240868852 [GRCh38]
Chr2:241808269 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.165+12G>C single nucleotide variant Primary hyperoxaluria, type I [RCV000292295] Chr2:240869042 [GRCh38]
Chr2:241808459 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.-23G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000344939] Chr2:240868843 [GRCh38]
Chr2:241808260 [GRCh37]
Chr2:2q37.3
benign|likely benign
NM_000030.3(AGXT):c.1071+12C>T single nucleotide variant Primary hyperoxaluria, type I [RCV000295493] Chr2:240878162 [GRCh38]
Chr2:241817579 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.484G>A (p.Val162Met) single nucleotide variant Primary hyperoxaluria, type I [RCV000297717]|not provided [RCV001325339] Chr2:240871409 [GRCh38]
Chr2:241810826 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.524+6C>A single nucleotide variant Primary hyperoxaluria, type I [RCV001143774]|not provided [RCV000337598] Chr2:240871455 [GRCh38]
Chr2:241810872 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) single nucleotide variant Primary hyperoxaluria, type I [RCV001140245]|not provided [RCV000341567] Chr2:240878753 [GRCh38]
Chr2:241818170 [GRCh37]
Chr2:2q37.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) single nucleotide variant Primary hyperoxaluria, type I [RCV000268109] Chr2:240873983 [GRCh38]
Chr2:241813400 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.846+5A>G single nucleotide variant Primary hyperoxaluria, type I [RCV001278702] Chr2:240876009 [GRCh38]
Chr2:241815426 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000030.3(AGXT):c.942+14T>G single nucleotide variant Primary hyperoxaluria, type I [RCV000670177] Chr2:240877646 [GRCh38]
Chr2:241817063 [GRCh37]
Chr2:2q37.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000030.3(AGXT):c.524+3G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000400730] Chr2:240871452 [GRCh38]
Chr2:241810869 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys) single nucleotide variant Primary hyperoxaluria, type I [RCV000384042] Chr2:240877591 [GRCh38]
Chr2:241817008 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.930C>T (p.Phe310=) single nucleotide variant Primary hyperoxaluria, type I [RCV000294212] Chr2:240877620 [GRCh38]
Chr2:241817037 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.*162A>G single nucleotide variant Primary hyperoxaluria, type I [RCV000396235] Chr2:240878983 [GRCh38]
Chr2:241818400 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.676G>A (p.Ala226Thr) single nucleotide variant not provided [RCV000523692] Chr2:240874058 [GRCh38]
Chr2:241813475 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) deletion Primary hyperoxaluria, type I [RCV000410991] Chr2:240874055..240874058 [GRCh38]
Chr2:241813472..241813475 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) single nucleotide variant Primary hyperoxaluria, type I [RCV001276582]|not provided [RCV000436183] Chr2:240875171 [GRCh38]
Chr2:241814588 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.28C>G (p.Pro10Ala) single nucleotide variant not provided [RCV000425921] Chr2:240868893 [GRCh38]
Chr2:241808310 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1 copy number loss See cases [RCV000510186] Chr2:240541136..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 copy number loss See cases [RCV000510310] Chr2:239748306..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1 copy number loss See cases [RCV000511956] Chr2:240630455..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 copy number loss See cases [RCV000511227] Chr2:240161377..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 copy number gain See cases [RCV000512298] Chr2:240141439..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241697171-241913820)x3 copy number gain not provided [RCV000682035] Chr2:241697171..241913820 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241694337-242035146)x3 copy number gain not provided [RCV000682061] Chr2:241694337..242035146 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.777-17C>A single nucleotide variant Primary hyperoxaluria, type I [RCV000665143] Chr2:240875918 [GRCh38]
Chr2:241815335 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.681-1G>T single nucleotide variant Primary hyperoxaluria, type I [RCV000666318] Chr2:240875108 [GRCh38]
Chr2:241814525 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.*39G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000666468] Chr2:240878860 [GRCh38]
Chr2:241818277 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) single nucleotide variant Primary hyperoxaluria, type I [RCV000670153] Chr2:240868947 [GRCh38]
Chr2:241808364 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.847-2_847-1del deletion Primary hyperoxaluria, type I [RCV000674790] Chr2:240877535..240877536 [GRCh38]
Chr2:241816952..241816953 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:241704379-242375813)x4 copy number gain not provided [RCV000682097] Chr2:241704379..242375813 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241810311-242783384)x1 copy number loss not provided [RCV000682110] Chr2:241810311..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV000665056]|not provided [RCV000885301] Chr2:240869010 [GRCh38]
Chr2:241808427 [GRCh37]
Chr2:2q37.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000030.3(AGXT):c.126dup (p.Leu43fs) duplication Primary hyperoxaluria, type I [RCV000669926] Chr2:240868985..240868986 [GRCh38]
Chr2:241808402..241808403 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) duplication Primary hyperoxaluria, type I [RCV000673401] Chr2:240870688..240870689 [GRCh38]
Chr2:241810105..241810106 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1 copy number loss not provided [RCV000682145] Chr2:240457943..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 copy number loss not provided [RCV000682146] Chr2:240076138..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 copy number loss not provided [RCV000682148] Chr2:239884390..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) single nucleotide variant Primary hyperoxaluria, type I [RCV000668336] Chr2:240871391 [GRCh38]
Chr2:241810808 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.781C>G (p.His261Asp) single nucleotide variant Primary hyperoxaluria, type I [RCV000671808] Chr2:240875939 [GRCh38]
Chr2:241815356 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.423+1G>A single nucleotide variant Primary hyperoxaluria, type I [RCV000674812] Chr2:240870709 [GRCh38]
Chr2:241810126 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_000030.3(AGXT):c.524+2T>A single nucleotide variant Primary hyperoxaluria, type I [RCV000666434] Chr2:240871451 [GRCh38]
Chr2:241810868 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) single nucleotide variant Primary hyperoxaluria, type I [RCV000668762] Chr2:240870708 [GRCh38]
Chr2:241810125 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.776+2T>G single nucleotide variant Primary hyperoxaluria, type I [RCV000665763] Chr2:240875206 [GRCh38]
Chr2:241814623 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del) deletion Primary hyperoxaluria, type I [RCV000666432] Chr2:240869257..240869268 [GRCh38]
Chr2:241808674..241808685 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.683_685AGA[3] (p.Lys229dup) microsatellite Primary hyperoxaluria, type I [RCV000672841] Chr2:240875109..240875110 [GRCh38]
Chr2:241814526..241814527 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241805851-241933700)x3 copy number gain not provided [RCV000741035] Chr2:241805851..241933700 [GRCh37]
Chr2:2q37.3
benign
NM_000030.3(AGXT):c.375G>C (p.Pro125=) single nucleotide variant not provided [RCV000981256] Chr2:240870660 [GRCh38]
Chr2:241810077 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.885G>A (p.Ala295=) single nucleotide variant Primary hyperoxaluria, type I [RCV001139467]|not provided [RCV000927649] Chr2:240877575 [GRCh38]
Chr2:241816992 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
NM_000030.3(AGXT):c.573C>T (p.Thr191=) single nucleotide variant not provided [RCV000892889] Chr2:240873027 [GRCh38]
Chr2:241812444 [GRCh37]
Chr2:2q37.3
benign
NM_000030.3(AGXT):c.537G>C (p.Leu179=) single nucleotide variant Primary hyperoxaluria, type I [RCV001143775]|not provided [RCV000927058] Chr2:240872991 [GRCh38]
Chr2:241812408 [GRCh37]
Chr2:2q37.3
benign|uncertain significance
NM_000030.3(AGXT):c.805C>T (p.Leu269=) single nucleotide variant not provided [RCV000904672] Chr2:240875963 [GRCh38]
Chr2:241815380 [GRCh37]
Chr2:2q37.3
benign
NM_000030.3(AGXT):c.1155G>A (p.Gln385=) single nucleotide variant not provided [RCV000929018] Chr2:240878797 [GRCh38]
Chr2:241818214 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.840G>A (p.Ala280=) single nucleotide variant Primary hyperoxaluria, type I [RCV001276584]|not provided [RCV000946705] Chr2:240875998 [GRCh38]
Chr2:241815415 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) single nucleotide variant Primary hyperoxaluria [RCV000780822] Chr2:240878726 [GRCh38]
Chr2:241818143 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.2:c.165+15_166-18dup duplication not specified [RCV000781937] Chr2:2q37.3 uncertain significance
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) single nucleotide variant Primary hyperoxaluria, type I [RCV000778603] Chr2:240878028 [GRCh38]
Chr2:241817445 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.795C>T (p.Pro265=) single nucleotide variant Primary hyperoxaluria, type I [RCV001276583]|not provided [RCV000895210] Chr2:240875953 [GRCh38]
Chr2:241815370 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
NM_000030.3(AGXT):c.72C>G (p.Leu24=) single nucleotide variant not provided [RCV000926822] Chr2:240868937 [GRCh38]
Chr2:241808354 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.607C>T (p.Leu203=) single nucleotide variant not provided [RCV000976564] Chr2:240873989 [GRCh38]
Chr2:241813406 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.1053T>C (p.Leu351=) single nucleotide variant not provided [RCV000943011] Chr2:240878132 [GRCh38]
Chr2:241817549 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.762C>T (p.Asp254=) single nucleotide variant not provided [RCV000971354] Chr2:240875190 [GRCh38]
Chr2:241814607 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.424-4T>C single nucleotide variant Primary hyperoxaluria, type I [RCV001276581]|not provided [RCV000883322] Chr2:240871345 [GRCh38]
Chr2:241810762 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1 copy number loss not provided [RCV001005385] Chr2:240112450..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241404033-242684292)x1 copy number loss not provided [RCV000997728] Chr2:241404033..242684292 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.67C>T (p.Gln23Ter) single nucleotide variant not provided [RCV000810788] Chr2:240868932 [GRCh38]
Chr2:241808349 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241582582-242285265)x3 copy number gain not provided [RCV000846002] Chr2:241582582..242285265 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.841G>T (p.Glu281Ter) single nucleotide variant not provided [RCV000794339] Chr2:240875999 [GRCh38]
Chr2:241815416 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3 copy number gain See cases [RCV001194599] Chr2:241791028..242842568 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.683_685AGA[1] (p.Lys229del) microsatellite Primary hyperoxaluria, type I [RCV000987078] Chr2:240875110..240875112 [GRCh38]
Chr2:241814527..241814529 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.172G>A (p.Asp58Asn) single nucleotide variant not provided [RCV001222536] Chr2:240869176 [GRCh38]
Chr2:241808593 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.973del (p.Ala325fs) deletion not provided [RCV001223894] Chr2:240878051 [GRCh38]
Chr2:241817468 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) single nucleotide variant not provided [RCV001235996] Chr2:240869290 [GRCh38]
Chr2:241808707 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln) single nucleotide variant Primary hyperoxaluria, type I [RCV001139469] Chr2:240878029 [GRCh38]
Chr2:241817446 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) single nucleotide variant Primary hyperoxaluria, type I [RCV001271651]|not provided [RCV000883323] Chr2:240878102 [GRCh38]
Chr2:241817519 [GRCh37]
Chr2:2q37.3
benign
NM_000030.3(AGXT):c.480C>T (p.Thr160=) single nucleotide variant not provided [RCV000907232] Chr2:240871405 [GRCh38]
Chr2:241810822 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.876C>A (p.Arg292=) single nucleotide variant Primary hyperoxaluria, type I [RCV001276585]|not provided [RCV000908528] Chr2:240877566 [GRCh38]
Chr2:241816983 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
NM_000030.3(AGXT):c.888G>A (p.Ala296=) single nucleotide variant not provided [RCV000942028] Chr2:240877578 [GRCh38]
Chr2:241816995 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.1072-9G>A single nucleotide variant not provided [RCV000930014] Chr2:240878705 [GRCh38]
Chr2:241818122 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.567C>T (p.Gly189=) single nucleotide variant Primary hyperoxaluria, type I [RCV001143776]|not provided [RCV000899433] Chr2:240873021 [GRCh38]
Chr2:241812438 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
NM_000030.3(AGXT):c.507C>T (p.Phe169=) single nucleotide variant not provided [RCV000918447] Chr2:240871432 [GRCh38]
Chr2:241810849 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.846+6T>C single nucleotide variant not provided [RCV001228169] Chr2:240876010 [GRCh38]
Chr2:241815427 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.304G>T (p.Val102Phe) single nucleotide variant not provided [RCV001244265] Chr2:240869308 [GRCh38]
Chr2:241808725 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.*194A>T single nucleotide variant Primary hyperoxaluria, type I [RCV001142085] Chr2:240879015 [GRCh38]
Chr2:241818432 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.*285G>A single nucleotide variant Primary hyperoxaluria, type I [RCV001142086] Chr2:240879106 [GRCh38]
Chr2:241818523 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.40C>T (p.Leu14=) single nucleotide variant Primary hyperoxaluria, type I [RCV001139350] Chr2:240868905 [GRCh38]
Chr2:241808322 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.942G>A (p.Pro314=) single nucleotide variant Primary hyperoxaluria, type I [RCV001276586]|not provided [RCV001058041] Chr2:240877632 [GRCh38]
Chr2:241817049 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.429G>A (p.Leu143=) single nucleotide variant not provided [RCV000891346] Chr2:240871354 [GRCh38]
Chr2:241810771 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1 copy number loss not provided [RCV001005384] Chr2:239914717..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu) single nucleotide variant Primary hyperoxaluria, type I [RCV001141969] Chr2:240869178 [GRCh38]
Chr2:241808595 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.-24C>G single nucleotide variant Primary hyperoxaluria, type I [RCV001137104] Chr2:240868842 [GRCh38]
Chr2:241808259 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.942+12C>G single nucleotide variant Primary hyperoxaluria, type I [RCV001139468] Chr2:240877644 [GRCh38]
Chr2:241817061 [GRCh37]
Chr2:2q37.3
likely benign
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp) single nucleotide variant Primary hyperoxaluria, type I [RCV001140243] Chr2:240878125 [GRCh38]
Chr2:241817542 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr) single nucleotide variant Primary hyperoxaluria, type I [RCV001139470] Chr2:240878098 [GRCh38]
Chr2:241817515 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.*52C>G single nucleotide variant Primary hyperoxaluria, type I [RCV001142084] Chr2:240878873 [GRCh38]
Chr2:241818290 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.374_381del (p.Pro125fs) deletion not provided [RCV001247309] Chr2:240870656..240870663 [GRCh38]
Chr2:241810073..241810080 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) single nucleotide variant Primary hyperoxaluria, type I [RCV001139349] Chr2:240868896 [GRCh38]
Chr2:241808313 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3 copy number gain See cases [RCV001194552] Chr2:241810850..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
NC_000002.11:g.(?_241808273)_(242708241_?)del deletion not provided [RCV001031165] Chr2:241808273..242708241 [GRCh37]
Chr2:2q37.3
pathogenic
NM_000030.3(AGXT):c.510G>A (p.Gly170=) single nucleotide variant Primary hyperoxaluria, type I [RCV001143773] Chr2:240871435 [GRCh38]
Chr2:241810852 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) single nucleotide variant not provided [RCV001235424] Chr2:240869362 [GRCh38]
Chr2:241808779 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.1065G>C (p.Thr355=) single nucleotide variant Primary hyperoxaluria, type I [RCV001140244] Chr2:240878144 [GRCh38]
Chr2:241817561 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) single nucleotide variant not provided [RCV001230740] Chr2:240868935 [GRCh38]
Chr2:241808352 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.214A>C (p.Asn72His) single nucleotide variant Primary hyperoxaluria, type I [RCV001141970] Chr2:240869218 [GRCh38]
Chr2:241808635 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV001141971] Chr2:240871416 [GRCh38]
Chr2:241810833 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.491A>G (p.Gln164Arg) single nucleotide variant not provided [RCV001205302] Chr2:240871416 [GRCh38]
Chr2:241810833 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly) single nucleotide variant Primary hyperoxaluria, type I [RCV001278700] Chr2:240869345 [GRCh38]
Chr2:241808762 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) single nucleotide variant Primary hyperoxaluria, type I [RCV001278701] Chr2:240873005 [GRCh38]
Chr2:241812422 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.882C>T (p.Ala294=) single nucleotide variant Primary hyperoxaluria, type I [RCV001278703] Chr2:240877572 [GRCh38]
Chr2:241816989 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV001263729] Chr2:240869202 [GRCh38]
Chr2:241808619 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV001263730] Chr2:240869256 [GRCh38]
Chr2:241808673 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV001263731] Chr2:240869362 [GRCh38]
Chr2:241808779 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV001263733] Chr2:240871364 [GRCh38]
Chr2:241810781 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV001263734] Chr2:240874035 [GRCh38]
Chr2:241813452 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter) single nucleotide variant Primary hyperoxaluria, type I [RCV001263732] Chr2:240870697 [GRCh38]
Chr2:241810114 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp) single nucleotide variant Primary hyperoxaluria, type I [RCV001280544] Chr2:240872988 [GRCh38]
Chr2:241812405 [GRCh37]
Chr2:2q37.3
likely pathogenic
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:341 AgrOrtholog
COSMIC AGXT COSMIC
Ensembl Genes ENSG00000172482 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000302620 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307503 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172482 GTEx
HGNC ID HGNC:341 ENTREZGENE
Human Proteome Map AGXT Human Proteome Map
InterPro Aminotrans_V_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotrans_V_PyrdxlP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SP_NH2Trfase/AEP_transaminase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:189 UniProtKB/Swiss-Prot
NCBI Gene 189 ENTREZGENE
OMIM 259900 OMIM
  604285 OMIM
Pfam Aminotran_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24633 PharmGKB
PIRSF SPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRANSFER_CLASS_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2V838_HUMAN UniProtKB/TrEMBL
  P21549 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q53QU6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-03-20 AGXT  alanine--glyoxylate and serine--pyruvate aminotransferase    alanine-glyoxylate aminotransferase  Symbol and/or name change 5135510 APPROVED