OAT (ornithine aminotransferase) - Rat Genome Database

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Gene: OAT (ornithine aminotransferase) Homo sapiens
Analyze
Symbol: OAT
Name: ornithine aminotransferase
RGD ID: 1350711
HGNC Page HGNC:8091
Description: Enables identical protein binding activity and ornithine aminotransferase activity. Predicted to be involved in arginine catabolic process to glutamate and arginine catabolic process to proline via ornithine. Located in mitochondrial matrix and nucleoplasm. Implicated in gyrate atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp781A11155; GACR; gyrate atrophy; HOGA; OATASE; OKT; ornithine aminotransferase, mitochondrial; ornithine delta-aminotransferase; ornithine--oxo-acid aminotransferase; ornithine-delta-aminotransferase; ornithine-oxo-acid aminotransferase; testicular tissue protein Li 130
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100420083   LOC100420084   LOC100420089   LOC101060049   LOC102723585   LOC643554   LOC791091   LOC791092   LOC791093   LOC791095   LOC791096   LOC791097   LOC791098   OATP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810124,397,303 - 124,418,923 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10124,397,303 - 124,418,976 (-)EnsemblGRCh38hg38GRCh38
GRCh3710126,085,872 - 126,107,492 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610126,075,862 - 126,097,441 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410126,075,861 - 126,097,450NCBI
Celera10119,858,073 - 119,879,754 (-)NCBICelera
Cytogenetic Map10q26.13NCBI
HuRef10119,770,641 - 119,792,323 (-)NCBIHuRef
CHM1_110126,367,759 - 126,389,447 (-)NCBICHM1_1
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBIT2T-CHM13v2.0
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
(+)-schisandrin B  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-diaminotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-amino-4,6-dinitrotoluene  (ISO)
2-deoxy-D-glucose  (ISO)
2-nitrofluorene  (ISO)
3',5'-cyclic AMP  (ISO)
3,4-dihydrocoumarin  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
aldehydo-D-ribose  (ISO)
all-trans-retinoic acid  (EXP)
alpha-D-galactose  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
bacitracin  (ISO)
benzatropine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
Brodifacoum  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
ciprofibrate  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corn oil  (ISO)
coumarin  (ISO)
crocidolite asbestos  (EXP)
Cuprizon  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
D-glucitol  (ISO)
D-glucose  (ISO)
D-mannitol  (ISO)
D-mannopyranose  (ISO)
D-ribofuranose  (ISO)
dibenzofurans  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dihydroxyacetone  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
etoposide  (ISO)
fenbuconazole  (EXP)
fenthion  (ISO)
fenvalerate  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fructose  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
galactose  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (ISO)
glycerol  (ISO)
haloperidol  (EXP)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
inositol  (ISO)
irinotecan  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
leflunomide  (ISO)
Licochalcone B  (EXP)
lovastatin  (ISO)
MeIQ  (EXP)
MeIQx  (EXP)
menadione  (EXP)
metacetamol  (ISO)
metformin  (ISO)
methidathion  (ISO)
methotrexate  (ISO)
methylseleninic acid  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (ISO)
orphenadrine  (ISO)
p-toluidine  (ISO)
paclitaxel  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenformin  (ISO)
phenobarbital  (ISO)
PhIP  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
rhamnose  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sorbose  (ISO)
streptozocin  (ISO)
sulfasalazine  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tanespimycin  (EXP)
teriflunomide  (EXP)
Tesaglitazar  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
thioacetamide  (EXP,ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
undecane  (ISO)
uranium atom  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
warfarin  (ISO)
xylitol  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
mitochondrial matrix  (IDA,IEA,NAS,TAS)
mitochondrion  (IDA,IEA)
nucleoplasm  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. Mitchell GA, etal., J Clin Invest. 1988 Feb;81(2):630-3.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1612597   PMID:1618792   PMID:1682785   PMID:1737786   PMID:2363680   PMID:2373169   PMID:2507357   PMID:2793865   PMID:3170546   PMID:3375240   PMID:3456579   PMID:3596985  
PMID:3754226   PMID:3816496   PMID:6462326   PMID:6819292   PMID:7668253   PMID:7887415   PMID:7932736   PMID:9309222   PMID:9514741   PMID:9878407   PMID:12477932   PMID:15489334  
PMID:16096275   PMID:16169070   PMID:16713569   PMID:17314511   PMID:17353931   PMID:17676665   PMID:19615732   PMID:20186120   PMID:20602615   PMID:20877624   PMID:21081666   PMID:21319273  
PMID:21873635   PMID:21900206   PMID:22119785   PMID:22182799   PMID:22268729   PMID:22304920   PMID:22586326   PMID:22674428   PMID:22939629   PMID:22989455   PMID:23076989   PMID:23125841  
PMID:23798571   PMID:24082780   PMID:24429551   PMID:24797263   PMID:25147182   PMID:25192599   PMID:25783604   PMID:25921289   PMID:26259030   PMID:26344197   PMID:27025967   PMID:27609421  
PMID:27684187   PMID:28330616   PMID:28345116   PMID:28443643   PMID:28581483   PMID:28675297   PMID:29128334   PMID:29331416   PMID:29395067   PMID:29507755   PMID:29527240   PMID:29568061  
PMID:29757052   PMID:29802200   PMID:30021884   PMID:30251682   PMID:30366948   PMID:30442662   PMID:30463901   PMID:30833792   PMID:30940648   PMID:30948266   PMID:31091453   PMID:31409639  
PMID:31501420   PMID:31536960   PMID:31586073   PMID:31620119   PMID:31797533   PMID:31995728   PMID:32235678   PMID:32249768   PMID:32628020   PMID:32698014   PMID:32707033   PMID:32814053  
PMID:32877691   PMID:32941674   PMID:32963011   PMID:32994395   PMID:33022573   PMID:33068755   PMID:33243052   PMID:33463379   PMID:33545068   PMID:33567341   PMID:33845483   PMID:33916271  
PMID:33957083   PMID:34039624   PMID:34079125   PMID:34097381   PMID:34428256   PMID:34709727   PMID:34728620   PMID:35012549   PMID:35032548   PMID:35256949   PMID:35271311   PMID:35384245  
PMID:35460691   PMID:35509820   PMID:35545034   PMID:35552390   PMID:35563538   PMID:35676659   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36098904   PMID:36114006   PMID:36168628  
PMID:36215168   PMID:36517590   PMID:36526897   PMID:36736316   PMID:36755387   PMID:36834788   PMID:36991126   PMID:37506885   PMID:37689310   PMID:37827155   PMID:38113892   PMID:38413821  


Genomics

Comparative Map Data
OAT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810124,397,303 - 124,418,923 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10124,397,303 - 124,418,976 (-)EnsemblGRCh38hg38GRCh38
GRCh3710126,085,872 - 126,107,492 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610126,075,862 - 126,097,441 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410126,075,861 - 126,097,450NCBI
Celera10119,858,073 - 119,879,754 (-)NCBICelera
Cytogenetic Map10q26.13NCBI
HuRef10119,770,641 - 119,792,323 (-)NCBIHuRef
CHM1_110126,367,759 - 126,389,447 (-)NCBICHM1_1
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBIT2T-CHM13v2.0
Oat
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397132,159,204 - 132,178,127 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7132,159,207 - 132,178,127 (-)EnsemblGRCm39 Ensembl
GRCm387132,557,475 - 132,576,398 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7132,557,478 - 132,576,398 (-)EnsemblGRCm38mm10GRCm38
MGSCv377139,749,158 - 139,768,081 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367132,395,822 - 132,408,481 (-)NCBIMGSCv36mm8
Celera7132,362,445 - 132,381,370 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map776.3NCBI
Oat
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81196,777,973 - 196,797,754 (-)NCBIGRCr8
mRatBN7.21187,347,862 - 187,367,644 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1187,347,865 - 187,367,682 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1195,698,027 - 195,717,805 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01202,876,939 - 202,896,719 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01195,550,072 - 195,569,851 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01204,562,289 - 204,582,070 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1204,562,289 - 204,582,070 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01211,555,927 - 211,575,708 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41192,026,623 - 192,046,404 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11192,176,503 - 192,196,285 (-)NCBI
Celera1185,092,131 - 185,111,563 (-)NCBICelera
Cytogenetic Map1q41NCBI
Oat
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554772,429,776 - 2,450,624 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554772,430,146 - 2,450,135 (-)NCBIChiLan1.0ChiLan1.0
OAT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28136,243,004 - 136,265,666 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110136,248,355 - 136,271,017 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010120,955,805 - 120,977,484 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110125,224,032 - 125,245,530 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10125,224,032 - 125,245,504 (-)Ensemblpanpan1.1panPan2
OAT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12833,763,661 - 33,788,817 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2833,758,473 - 33,788,759 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2833,826,851 - 33,851,641 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02834,320,605 - 34,345,627 (-)NCBIROS_Cfam_1.0
UU_Cfam_GSD_1.02834,120,928 - 34,145,786 (-)NCBIUU_Cfam_GSD_1.0
Oat
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721312,817,898 - 12,836,941 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648612,723,305 - 12,743,422 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648612,723,363 - 12,743,367 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OAT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.114133,808,193 - 133,830,517 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214145,318,779 - 145,341,064 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OAT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19117,060,819 - 117,083,160 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9117,060,393 - 117,083,126 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604878,377,280 - 78,399,645 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Oat
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473722,664,129 - 22,678,535 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473722,657,158 - 22,679,213 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OAT
554 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000274.4(OAT):c.159del (p.His53fs) deletion Ornithine aminotransferase deficiency [RCV000000170] Chr10:124412013 [GRCh38]
Chr10:126100582 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000274.4(OAT):c.425-4_429del deletion Ornithine aminotransferase deficiency [RCV000000188] Chr10:124408633..124408641 [GRCh38]
Chr10:126097202..126097210 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
OAT, ALU INS insertion Ornithine aminotransferase deficiency [RCV000000189] Chr10:10q26 pathogenic
NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del deletion Ornithine aminotransferase deficiency [RCV000000197] Chr10:124404669..124404736 [GRCh38]
Chr10:126093238..126093305 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.192_193del (p.Gly65fs) microsatellite Ornithine aminotransferase deficiency [RCV000000201] Chr10:124411979..124411980 [GRCh38]
Chr10:126100548..126100549 [GRCh37]
Chr10:10q26.13		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.225C>A (p.Gly75=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001495084] Chr10:124408940 [GRCh38]
Chr10:126097509 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.3(OAT):c.425-5_428del deletion Ornithine aminotransferase deficiency [RCV000049536] Chr10:124408634..124408642 [GRCh38]
Chr10:126097203..126097211 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.3G>A (p.Met1Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000169] Chr10:124412169 [GRCh38]
Chr10:126100738 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.550_552del (p.Ala184del) deletion Ornithine aminotransferase deficiency [RCV000000171] Chr10:124405532..124405534 [GRCh38]
Chr10:126094101..126094103 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000172]|not provided [RCV000760452] Chr10:124398076 [GRCh38]
Chr10:126086645 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.163T>C (p.Tyr55His) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000173] Chr10:124412009 [GRCh38]
Chr10:126100578 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.278G>T (p.Cys93Phe) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000174] Chr10:124408887 [GRCh38]
Chr10:126097456 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) single nucleotide variant Hyperornithinemia [RCV001824555]|Ornithine aminotransferase deficiency [RCV000000175] Chr10:124408601 [GRCh38]
Chr10:126097170 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.539G>C (p.Arg180Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000176] Chr10:124405545 [GRCh38]
Chr10:126094114 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.808G>C (p.Ala270Pro) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000177] Chr10:124403019 [GRCh38]
Chr10:126091588 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.812G>A (p.Arg271Lys) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000178] Chr10:124403015 [GRCh38]
Chr10:126091584 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro) single nucleotide variant Hyperornithinemia [RCV002509140]|Ornithine aminotransferase deficiency [RCV000000179] Chr10:124398057 [GRCh38]
Chr10:126086626 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000180] Chr10:124398012 [GRCh38]
Chr10:126086581 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000274.4(OAT):c.1311G>C (p.Leu437Phe) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000181] Chr10:124397951 [GRCh38]
Chr10:126086520 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000182]|Retinal dystrophy [RCV001073881] Chr10:124400875 [GRCh38]
Chr10:126089444 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic|uncertain significance
NM_000274.4(OAT):c.734A>G (p.Tyr245Cys) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000183] Chr10:124403835 [GRCh38]
Chr10:126092404 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1134C>T (p.Asn378=) single nucleotide variant Ornithine aminotransferase deficiency [RCV000380778]|not provided [RCV000831333]|not specified [RCV001529561] Chr10:124400865 [GRCh38]
Chr10:126089434 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.994G>A (p.Val332Met) single nucleotide variant Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia [RCV000000185]|Ornithine aminotransferase deficiency [RCV000049551] Chr10:124401746 [GRCh38]
Chr10:126090315 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.162C>A (p.Asn54Lys) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000186] Chr10:124412010 [GRCh38]
Chr10:126100579 [GRCh37]
Chr10:10q26.13		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.955C>T (p.His319Tyr) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000187] Chr10:124401785 [GRCh38]
Chr10:126090354 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.550G>A (p.Ala184Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000190] Chr10:124405534 [GRCh38]
Chr10:126094103 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) single nucleotide variant Hyperornithinemia [RCV003234882]|Ornithine aminotransferase deficiency [RCV000000191] Chr10:124403847 [GRCh38]
Chr10:126092416 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.749G>C (p.Arg250Pro) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000192] Chr10:124403820 [GRCh38]
Chr10:126092389 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000193]|not provided [RCV001091422] Chr10:124400941 [GRCh38]
Chr10:126089510 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000194] Chr10:124398090 [GRCh38]
Chr10:126086659 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000274.4(OAT):c.1180T>C (p.Cys394Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000195] Chr10:124398082 [GRCh38]
Chr10:126086651 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000196] Chr10:124398061 [GRCh38]
Chr10:126086630 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000198] Chr10:124405457 [GRCh38]
Chr10:126094026 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000199]|Retinal dystrophy [RCV001074426]|not provided [RCV003237409] Chr10:124402930 [GRCh38]
Chr10:126091499 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter) single nucleotide variant Hyperornithinemia [RCV002271362]|Ornithine aminotransferase deficiency [RCV000000200] Chr10:124397986 [GRCh38]
Chr10:126086555 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.533G>A (p.Trp178Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000202] Chr10:124405551 [GRCh38]
Chr10:126094120 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.824G>A (p.Trp275Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000203] Chr10:124403003 [GRCh38]
Chr10:126091572 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.677C>T (p.Ala226Val) single nucleotide variant Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia [RCV000000204]|Ornithine aminotransferase deficiency [RCV001208929] Chr10:124403892 [GRCh38]
Chr10:126092461 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.268C>G (p.Gln90Glu) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000205] Chr10:124408897 [GRCh38]
Chr10:126097466 [GRCh37]
Chr10:10q26.13		 pathogenic|uncertain significance
NM_000274.4(OAT):c.596C>A (p.Pro199Gln) single nucleotide variant Ornithine aminotransferase deficiency [RCV000000206] Chr10:124405488 [GRCh38]
Chr10:126094057 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.1031del (p.Asn344fs) deletion Ornithine aminotransferase deficiency [RCV000049520] Chr10:124400968 [GRCh38]
Chr10:126089537 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049521] Chr10:124400881 [GRCh38]
Chr10:126089450 [GRCh37]
Chr10:10q26.13		 likely pathogenic|uncertain significance
NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049523] Chr10:124398081 [GRCh38]
Chr10:126086650 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn) single nucleotide variant Hyperornithinemia [RCV003317066]|Ornithine aminotransferase deficiency [RCV000049524] Chr10:124397955 [GRCh38]
Chr10:126086524 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049525]|not provided [RCV000513174] Chr10:124397951 [GRCh38]
Chr10:126086520 [GRCh37]
Chr10:10q26.13		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.3(OAT):c.159delC (p.His53Glnfs) deletion Ornithine aminotransferase deficiency [RCV000049526] Chr10:124412013 [GRCh38]
Chr10:126100582 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.3(OAT):c.192_193delAG (p.Gly65Lysfs) deletion Ornithine aminotransferase deficiency [RCV000049527] Chr10:124411979..124411980 [GRCh38]
Chr10:126100548..126100549 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.199+303C>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000049528] Chr10:124411670 [GRCh38]
Chr10:126100239 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.267C>A (p.Asn89Lys) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049529] Chr10:124408898 [GRCh38]
Chr10:126097467 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.272G>A (p.Gly91Glu) single nucleotide variant OAT-related condition [RCV003905013]|Ornithine aminotransferase deficiency [RCV000049530]|not specified [RCV003330418] Chr10:124408893 [GRCh38]
Chr10:126097462 [GRCh37]
Chr10:10q26.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.311A>G (p.Gln104Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049531] Chr10:124408854 [GRCh38]
Chr10:126097423 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.362G>A (p.Gly121Asp) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049532] Chr10:124408803 [GRCh38]
Chr10:126097372 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.370GAG[1] (p.Glu125del) microsatellite Ornithine aminotransferase deficiency [RCV000049533] Chr10:124408790..124408792 [GRCh38]
Chr10:126097359..126097361 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.381dup (p.Thr128fs) duplication Ornithine aminotransferase deficiency [RCV000049534] Chr10:124408783..124408784 [GRCh38]
Chr10:126097352..126097353 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.425-2A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000049535] Chr10:124408639 [GRCh38]
Chr10:126097208 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.425G>A (p.Gly142Glu) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049537] Chr10:124408637 [GRCh38]
Chr10:126097206 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del) deletion Ornithine aminotransferase deficiency [RCV000049538] Chr10:124408576..124408590 [GRCh38]
Chr10:126097145..126097159 [GRCh37]
Chr10:10q26.13		 likely pathogenic|uncertain significance
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer) deletion Ornithine aminotransferase deficiency [RCV000049539] Chr10:124405547..124405551 [GRCh38]
Chr10:126094116..126094120 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.542C>T (p.Thr181Met) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049540] Chr10:124405542 [GRCh38]
Chr10:126094111 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049541] Chr10:124405501 [GRCh38]
Chr10:126094070 [GRCh37]
Chr10:10q26.13		 likely pathogenic|uncertain significance
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049542] Chr10:124403871 [GRCh38]
Chr10:126092440 [GRCh37]
Chr10:10q26.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.710G>A (p.Gly237Asp) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049543] Chr10:124403859 [GRCh38]
Chr10:126092428 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.748C>T (p.Arg250Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049544] Chr10:124403821 [GRCh38]
Chr10:126092390 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049545] Chr10:124403027 [GRCh38]
Chr10:126091596 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.901-2A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000049546] Chr10:124401841 [GRCh38]
Chr10:126090410 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.952G>A (p.Glu318Lys) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049547] Chr10:124401788 [GRCh38]
Chr10:126090357 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.952del (p.Glu318fs) deletion Ornithine aminotransferase deficiency [RCV000049548] Chr10:124401788 [GRCh38]
Chr10:126090357 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.978T>A (p.Asn326Lys) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049549] Chr10:124401762 [GRCh38]
Chr10:126090331 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV000049550]|not provided [RCV002251431] Chr10:124401749 [GRCh38]
Chr10:126090318 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1 copy number loss See cases [RCV000051150] Chr10:123307835..133620674 [GRCh38]
Chr10:125067351..135434178 [GRCh37]
Chr10:125057341..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1 copy number loss See cases [RCV000052609] Chr10:122826743..126730948 [GRCh38]
Chr10:124586259..128419517 [GRCh37]
Chr10:124576249..128409507 [NCBI36]
Chr10:10q26.13-26.2		 pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1 copy number loss See cases [RCV000052610] Chr10:122973296..128210291 [GRCh38]
Chr10:124732812..130008555 [GRCh37]
Chr10:124722802..129898545 [NCBI36]
Chr10:10q26.13-26.2		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1 copy number loss See cases [RCV000052611] Chr10:123580320..133558988 [GRCh38]
Chr10:125339836..135372492 [GRCh37]
Chr10:125329826..135222482 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3		 pathogenic
NM_000274.4(OAT):c.293T>C (p.Val98Ala) single nucleotide variant not provided [RCV000087164] Chr10:124408872 [GRCh38]
Chr10:126097441 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.915G>T (p.Leu305=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001493876] Chr10:124401825 [GRCh38]
Chr10:126090394 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1224T>C (p.His408=) single nucleotide variant Ornithine aminotransferase deficiency [RCV000266334]|not provided [RCV000173664] Chr10:124398038 [GRCh38]
Chr10:126086607 [GRCh37]
Chr10:10q26.13		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3 copy number gain See cases [RCV000136887] Chr10:124032888..127368827 [GRCh38]
Chr10:125792404..129167091 [GRCh37]
Chr10:125782394..129057081 [NCBI36]
Chr10:10q26.13-26.2		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 copy number loss See cases [RCV000138435] Chr10:122881207..133620609 [GRCh38]
Chr10:124640723..135434113 [GRCh37]
Chr10:124630713..135284103 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3		 pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1 copy number loss See cases [RCV000143623] Chr10:123986772..133613639 [GRCh38]
Chr10:125746288..135427143 [GRCh37]
Chr10:125736278..135277133 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1 copy number loss See cases [RCV000143544] Chr10:123576393..133613639 [GRCh38]
Chr10:125335909..135427143 [GRCh37]
Chr10:125325899..135277133 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
NM_000274.4(OAT):c.648+14A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000346897]|not provided [RCV000843399]|not specified [RCV000153614] Chr10:124405422 [GRCh38]
Chr10:126093991 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.199+4C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV002516683]|not provided [RCV000175572] Chr10:124411969 [GRCh38]
Chr10:126100538 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.969C>T (p.Tyr323=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001083247]|not provided [RCV000180123] Chr10:124401771 [GRCh38]
Chr10:126090340 [GRCh37]
Chr10:10q26.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter) single nucleotide variant Hyperornithinemia [RCV002298643]|Ornithine aminotransferase deficiency [RCV000542545] Chr10:124398070 [GRCh38]
Chr10:126086639 [GRCh37]
Chr10:10q26.13		 pathogenic
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 copy number loss See cases [RCV000240153] Chr10:122239239..128203032 [GRCh37]
Chr10:10q26.12-26.2		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 copy number loss See cases [RCV000203440] Chr10:123731209..135353867 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.681C>T (p.Phe227=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001494910] Chr10:124403888 [GRCh38]
Chr10:126092457 [GRCh37]
Chr10:10q26.13		 likely benign
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
NM_000274.3(OAT):c.-94T>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000268468] Chr10:124418937 [GRCh38]
Chr10:126107506 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.*561G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV000370612] Chr10:124397381 [GRCh38]
Chr10:126085950 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.-53C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV000303732] Chr10:124418896 [GRCh38]
Chr10:126107465 [GRCh37]
Chr10:10q26.13		 benign|uncertain significance
NM_000274.4(OAT):c.1160-13T>A single nucleotide variant Ornithine aminotransferase deficiency [RCV000323800] Chr10:124398115 [GRCh38]
Chr10:126086684 [GRCh37]
Chr10:10q26.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.200-10T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV000350357]|not specified [RCV001700040] Chr10:124408975 [GRCh38]
Chr10:126097544 [GRCh37]
Chr10:10q26.13		 benign|likely benign
NM_000274.4(OAT):c.*35C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV000377417] Chr10:124397907 [GRCh38]
Chr10:126086476 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.*535T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV000259522] Chr10:124397407 [GRCh38]
Chr10:126085976 [GRCh37]
Chr10:10q26.13		 benign|likely benign
NM_000274.4(OAT):c.521-15_521-12del microsatellite Ornithine aminotransferase deficiency [RCV000293029] Chr10:124405575..124405578 [GRCh38]
Chr10:126094144..126094147 [GRCh37]
Chr10:10q26.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.-30+8C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV000357000] Chr10:124418865 [GRCh38]
Chr10:126107434 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.110C>T (p.Pro37Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV000335421] Chr10:124412062 [GRCh38]
Chr10:126100631 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.639C>T (p.Pro213=) single nucleotide variant Ornithine aminotransferase deficiency [RCV000385085] Chr10:124405445 [GRCh38]
Chr10:126094014 [GRCh37]
Chr10:10q26.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.123T>C (p.Asp41=) single nucleotide variant OAT-related condition [RCV003930250]|Ornithine aminotransferase deficiency [RCV000315463] Chr10:124412049 [GRCh38]
Chr10:126100618 [GRCh37]
Chr10:10q26.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.-38C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV000391851] Chr10:124418881 [GRCh38]
Chr10:126107450 [GRCh37]
Chr10:10q26.13		 benign|uncertain significance
NM_000274.4(OAT):c.-4C>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000391870] Chr10:124412175 [GRCh38]
Chr10:126100744 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.*185C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV000320513]|not provided [RCV001612938] Chr10:124397757 [GRCh38]
Chr10:126086326 [GRCh37]
Chr10:10q26.13		 benign|likely benign
NM_000274.4(OAT):c.352A>T (p.Asn118Tyr) single nucleotide variant not provided [RCV000337675] Chr10:124408813 [GRCh38]
Chr10:126097382 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.*189A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000262916] Chr10:124397753 [GRCh38]
Chr10:126086322 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1187G>A (p.Arg396Gln) single nucleotide variant Ornithine aminotransferase deficiency [RCV001280138] Chr10:124398075 [GRCh38]
Chr10:126086644 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.*378A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000298344] Chr10:124397564 [GRCh38]
Chr10:126086133 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.*275A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000355425] Chr10:124397667 [GRCh38]
Chr10:126086236 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.911T>A (p.Val304Glu) single nucleotide variant Ornithine aminotransferase deficiency [RCV000288769] Chr10:124401829 [GRCh38]
Chr10:126090398 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.-30+11G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV000299799] Chr10:124418862 [GRCh38]
Chr10:126107431 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.3(OAT):c.-104T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV000325787] Chr10:124418947 [GRCh38]
Chr10:126107516 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.-60C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV000360801] Chr10:124418903 [GRCh38]
Chr10:126107472 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.899C>T (p.Pro300Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV000735677] Chr10:124402928 [GRCh38]
Chr10:126091497 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.875A>G (p.Lys292Arg) single nucleotide variant Optic atrophy [RCV000415047]|Ornithine aminotransferase deficiency [RCV001198514] Chr10:124402952 [GRCh38]
Chr10:126091521 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.740T>C (p.Met247Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV000560029] Chr10:124403829 [GRCh38]
Chr10:126092398 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.48C>T (p.Arg16=) single nucleotide variant OAT-related condition [RCV003938124]|Ornithine aminotransferase deficiency [RCV001106381]|not provided [RCV000733681] Chr10:124412124 [GRCh38]
Chr10:126100693 [GRCh37]
Chr10:10q26.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.314T>C (p.Val105Ala) single nucleotide variant Inborn genetic diseases [RCV003362825]|Ornithine aminotransferase deficiency [RCV001106378] Chr10:124408851 [GRCh38]
Chr10:126097420 [GRCh37]
Chr10:10q26.13		 likely benign|uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 copy number gain See cases [RCV000449169] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3		 likely pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
NM_000274.4(OAT):c.49_52dup (p.Val18fs) duplication Ornithine aminotransferase deficiency [RCV000530043] Chr10:124412119..124412120 [GRCh38]
Chr10:126100688..126100689 [GRCh37]
Chr10:10q26.13		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_000274.4(OAT):c.49G>A (p.Gly17Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV000631198] Chr10:124412123 [GRCh38]
Chr10:126100692 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.736C>T (p.Leu246=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001103332] Chr10:124403833 [GRCh38]
Chr10:126092402 [GRCh37]
Chr10:10q26.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.198_199+6delinsTTAA indel Ornithine aminotransferase deficiency [RCV000541059] Chr10:124411967..124411974 [GRCh38]
Chr10:126100536..126100543 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.772-1G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV000995825]|not provided [RCV000513591] Chr10:124403056 [GRCh38]
Chr10:126091625 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.199+11_199+16dup duplication Ornithine aminotransferase deficiency [RCV000672625]|not provided [RCV002225715] Chr10:124411956..124411957 [GRCh38]
Chr10:126100525..126100526 [GRCh37]
Chr10:10q26.13		 benign|likely benign
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1 copy number loss not provided [RCV000683285] Chr10:125450893..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_000274.4(OAT):c.200-36_222del deletion Ornithine aminotransferase deficiency [RCV000692988] Chr10:124408943..124409001 [GRCh38]
Chr10:126097512..126097570 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.355G>A (p.Val119Ile) single nucleotide variant Inborn genetic diseases [RCV002547121]|Ornithine aminotransferase deficiency [RCV000688102] Chr10:124408810 [GRCh38]
Chr10:126097379 [GRCh37]
Chr10:10q26.13		 uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.13(chr10:126086326-126144839)x1 copy number loss not provided [RCV000749834] Chr10:126086326..126144839 [GRCh37]
Chr10:10q26.13		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000274.4(OAT):c.772-190T>G single nucleotide variant not provided [RCV001692698] Chr10:124403245 [GRCh38]
Chr10:126091814 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+227C>T single nucleotide variant not provided [RCV001667604] Chr10:124408315 [GRCh38]
Chr10:126096884 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.521-6T>G single nucleotide variant Ornithine aminotransferase deficiency [RCV000917254] Chr10:124405569 [GRCh38]
Chr10:126094138 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.799A>G (p.Thr267Ala) single nucleotide variant Ornithine aminotransferase deficiency [RCV001580751] Chr10:124403028 [GRCh38]
Chr10:126091597 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1159+258T>C single nucleotide variant not provided [RCV001679404] Chr10:124400582 [GRCh38]
Chr10:126089151 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.900+1G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001003104] Chr10:124402926 [GRCh38]
Chr10:126091495 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.199+157del deletion not provided [RCV001667618] Chr10:124411816 [GRCh38]
Chr10:126100385 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.648+66A>G single nucleotide variant not provided [RCV001575351] Chr10:124405370 [GRCh38]
Chr10:126093939 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+195_520+198del deletion not provided [RCV001690819] Chr10:124408344..124408347 [GRCh38]
Chr10:126096913..126096916 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1014+1G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001862828]|Retinal dystrophy [RCV001074447] Chr10:124401725 [GRCh38]
Chr10:126090294 [GRCh37]
Chr10:10q26.13		 likely pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_000274.4(OAT):c.1137T>G (p.Ala379=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001467512] Chr10:124400862 [GRCh38]
Chr10:126089431 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.521-7T>G single nucleotide variant Ornithine aminotransferase deficiency [RCV002540973] Chr10:124405570 [GRCh38]
Chr10:126094139 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1015-6A>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001484776] Chr10:124400990 [GRCh38]
Chr10:126089559 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.558C>T (p.Ser186=) single nucleotide variant Ornithine aminotransferase deficiency [RCV000983535] Chr10:124405526 [GRCh38]
Chr10:126094095 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.816T>C (p.Thr272=) single nucleotide variant Ornithine aminotransferase deficiency [RCV000872707] Chr10:124403011 [GRCh38]
Chr10:126091580 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1138A>G (p.Ile380Val) single nucleotide variant Ornithine aminotransferase deficiency [RCV001103330] Chr10:124400861 [GRCh38]
Chr10:126089430 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1305C>T (p.Thr435=) single nucleotide variant OAT-related condition [RCV003903136]|Ornithine aminotransferase deficiency [RCV000941577] Chr10:124397957 [GRCh38]
Chr10:126086526 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.901-154A>G single nucleotide variant not provided [RCV000831332] Chr10:124401993 [GRCh38]
Chr10:126090562 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.901-57A>T single nucleotide variant not provided [RCV000831337] Chr10:124401896 [GRCh38]
Chr10:126090465 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.886G>A (p.Gly296Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV000797109] Chr10:124402941 [GRCh38]
Chr10:126091510 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1015-6A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001103331]|not provided [RCV003480887] Chr10:124400990 [GRCh38]
Chr10:126089559 [GRCh37]
Chr10:10q26.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.1015-5C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV000915506] Chr10:124400989 [GRCh38]
Chr10:126089558 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.772-314G>C single nucleotide variant not provided [RCV000844556] Chr10:124403369 [GRCh38]
Chr10:126091938 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1228G>A (p.Asp410Asn) single nucleotide variant Ornithine aminotransferase deficiency [RCV000796441] Chr10:124398034 [GRCh38]
Chr10:126086603 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.901-22T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001538004]|not provided [RCV000831338] Chr10:124401861 [GRCh38]
Chr10:126090430 [GRCh37]
Chr10:10q26.13		 benign
GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3 copy number gain not provided [RCV000848791] Chr10:124988334..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
NC_000010.10:g.(?_126086491)_(126100760_?)dup duplication Ornithine aminotransferase deficiency [RCV000809300] Chr10:124397922..124412191 [GRCh38]
Chr10:126086491..126100760 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.899C>G (p.Pro300Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV001858791]|not provided [RCV000994524] Chr10:124402928 [GRCh38]
Chr10:126091497 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.-29-81A>G single nucleotide variant not provided [RCV000843396] Chr10:124412281 [GRCh38]
Chr10:126100850 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.3:c.648+14A>G single nucleotide variant not provided [RCV000843399] Chr10:126093991 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1015-150C>T single nucleotide variant not provided [RCV000843409] Chr10:124401134 [GRCh38]
Chr10:126089703 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1015-103A>C single nucleotide variant not provided [RCV000843411] Chr10:124401087 [GRCh38]
Chr10:126089656 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1160-59C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV001538003]|not provided [RCV000843412] Chr10:124398161 [GRCh38]
Chr10:126086730 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) single nucleotide variant Inborn genetic diseases [RCV002539165]|Ornithine aminotransferase deficiency [RCV001106380] Chr10:124412065 [GRCh38]
Chr10:126100634 [GRCh37]
Chr10:10q26.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3		 pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3		 pathogenic
NM_000274.4(OAT):c.785C>A (p.Ala262Asp) single nucleotide variant Ornithine aminotransferase deficiency [RCV001216891]|not provided [RCV002261308] Chr10:124403042 [GRCh38]
Chr10:126091611 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.633T>G (p.Asp211Glu) single nucleotide variant Ornithine aminotransferase deficiency [RCV001214298] Chr10:124405451 [GRCh38]
Chr10:126094020 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.977A>G (p.Asn326Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV001226956] Chr10:124401763 [GRCh38]
Chr10:126090332 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.648+13C>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001105243] Chr10:124405423 [GRCh38]
Chr10:126093992 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.533G>C (p.Trp178Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV001105245] Chr10:124405551 [GRCh38]
Chr10:126094120 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.-12T>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001108586] Chr10:124412183 [GRCh38]
Chr10:126100752 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.-66A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001103413] Chr10:124418909 [GRCh38]
Chr10:126107478 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.*486A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001106284] Chr10:124397456 [GRCh38]
Chr10:126086025 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.477C>T (p.Thr159=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001106377] Chr10:124408585 [GRCh38]
Chr10:126097154 [GRCh37]
Chr10:10q26.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.199+156_199+157del deletion not provided [RCV001663334] Chr10:124411816..124411817 [GRCh38]
Chr10:126100385..126100386 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+223T>C single nucleotide variant not provided [RCV001684475] Chr10:124408319 [GRCh38]
Chr10:126096888 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1159+215G>A single nucleotide variant not provided [RCV001639093] Chr10:124400625 [GRCh38]
Chr10:126089194 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+221T>C single nucleotide variant not provided [RCV001615790] Chr10:124408321 [GRCh38]
Chr10:126096890 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.771+227G>A single nucleotide variant not provided [RCV001708069] Chr10:124403571 [GRCh38]
Chr10:126092140 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.900+9C>A single nucleotide variant Ornithine aminotransferase deficiency [RCV000929706] Chr10:124402918 [GRCh38]
Chr10:126091487 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1281G>A (p.Glu427=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001504202] Chr10:124397981 [GRCh38]
Chr10:126086550 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.90T>C (p.Thr30=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001403367] Chr10:124412082 [GRCh38]
Chr10:126100651 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1125A>G (p.Gly375=) single nucleotide variant Ornithine aminotransferase deficiency [RCV000901253] Chr10:124400874 [GRCh38]
Chr10:126089443 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.303G>A (p.Leu101=) single nucleotide variant Ornithine aminotransferase deficiency [RCV000886982] Chr10:124408862 [GRCh38]
Chr10:126097431 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.582C>T (p.Tyr194=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001436362] Chr10:124405502 [GRCh38]
Chr10:126094071 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.211T>C (p.Trp71Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV001106379] Chr10:124408954 [GRCh38]
Chr10:126097523 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1078del (p.Leu360fs) deletion Ornithine aminotransferase deficiency [RCV001226503] Chr10:124400921 [GRCh38]
Chr10:126089490 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.437G>T (p.Gly146Val) single nucleotide variant Ornithine aminotransferase deficiency [RCV001230218] Chr10:124408625 [GRCh38]
Chr10:126097194 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.783del (p.Ile261fs) deletion Ornithine aminotransferase deficiency [RCV001239641] Chr10:124403044 [GRCh38]
Chr10:126091613 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.*311T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001108513] Chr10:124397631 [GRCh38]
Chr10:126086200 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.*61A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001108514] Chr10:124397881 [GRCh38]
Chr10:126086450 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.413C>T (p.Pro138Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV001064222] Chr10:124408752 [GRCh38]
Chr10:126097321 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.200-182C>T single nucleotide variant not provided [RCV001676815] Chr10:124409147 [GRCh38]
Chr10:126097716 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+198del deletion not provided [RCV001558507] Chr10:124408344 [GRCh38]
Chr10:126096913 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+142C>A single nucleotide variant not provided [RCV001655988] Chr10:124408400 [GRCh38]
Chr10:126096969 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.521-196T>G single nucleotide variant not provided [RCV001568684] Chr10:124405759 [GRCh38]
Chr10:126094328 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.648+44A>G single nucleotide variant not provided [RCV001560564] Chr10:124405392 [GRCh38]
Chr10:126093961 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.980C>G (p.Pro327Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV001029755] Chr10:124401760 [GRCh38]
Chr10:126090329 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.771+288C>T single nucleotide variant not provided [RCV001678493] Chr10:124403510 [GRCh38]
Chr10:126092079 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+195_520+206del deletion not provided [RCV001621344] Chr10:124408336..124408347 [GRCh38]
Chr10:126096905..126096916 [GRCh37]
Chr10:10q26.13		 benign
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3		 pathogenic
NM_000274.4(OAT):c.478G>A (p.Val160Met) single nucleotide variant Ornithine aminotransferase deficiency [RCV001105247] Chr10:124408584 [GRCh38]
Chr10:126097153 [GRCh37]
Chr10:10q26.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.494A>C (p.Lys165Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001105246] Chr10:124408568 [GRCh38]
Chr10:126097137 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1261A>G (p.Lys421Glu) single nucleotide variant Ornithine aminotransferase deficiency [RCV001108515] Chr10:124398001 [GRCh38]
Chr10:126086570 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.-59G>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001108587] Chr10:124418902 [GRCh38]
Chr10:126107471 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+195A>T single nucleotide variant not provided [RCV001590400] Chr10:124408347 [GRCh38]
Chr10:126096916 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+229C>T single nucleotide variant not provided [RCV001651916] Chr10:124408313 [GRCh38]
Chr10:126096882 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.772-141C>T single nucleotide variant not provided [RCV001672074] Chr10:124403196 [GRCh38]
Chr10:126091765 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.200-52_200-51insA insertion not provided [RCV001694685] Chr10:124409016..124409017 [GRCh38]
Chr10:126097585..126097586 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+219T>C single nucleotide variant not provided [RCV001533840] Chr10:124408323 [GRCh38]
Chr10:126096892 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.546_649-726del deletion Ornithine aminotransferase deficiency [RCV001591807] Chr10:124404646..124405538 [GRCh38]
Chr10:126093215..126094107 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.199+155_199+157del deletion not provided [RCV001692708] Chr10:124411816..124411818 [GRCh38]
Chr10:126100385..126100387 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+27A>G single nucleotide variant not provided [RCV001696173] Chr10:124408515 [GRCh38]
Chr10:126097084 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.648+146G>A single nucleotide variant not provided [RCV001681535] Chr10:124405290 [GRCh38]
Chr10:126093859 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1159+134G>A single nucleotide variant not provided [RCV001671610] Chr10:124400706 [GRCh38]
Chr10:126089275 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1159+115T>C single nucleotide variant not provided [RCV001690838] Chr10:124400725 [GRCh38]
Chr10:126089294 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.199+5G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001068536] Chr10:124411968 [GRCh38]
Chr10:126100537 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.648+1G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001212701] Chr10:124405435 [GRCh38]
Chr10:126094004 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.3(OAT):c.-83A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001103414] Chr10:124418926 [GRCh38]
Chr10:126107495 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.546G>T (p.Leu182Phe) single nucleotide variant Ornithine aminotransferase deficiency [RCV001248391] Chr10:124405538 [GRCh38]
Chr10:126094107 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.517G>A (p.Ala173Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001246360] Chr10:124408545 [GRCh38]
Chr10:126097114 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.283C>T (p.Pro95Ser) single nucleotide variant Inborn genetic diseases [RCV002554622]|Ornithine aminotransferase deficiency [RCV001071241] Chr10:124408882 [GRCh38]
Chr10:126097451 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.97dup (p.Thr33fs) duplication Ornithine aminotransferase deficiency [RCV001216254] Chr10:124412074..124412075 [GRCh38]
Chr10:126100643..126100644 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.1245G>A (p.Ala415=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001103329] Chr10:124398017 [GRCh38]
Chr10:126086586 [GRCh37]
Chr10:10q26.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.604C>A (p.Pro202Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001105244] Chr10:124405480 [GRCh38]
Chr10:126094049 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.534G>A (p.Trp178Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV001203269] Chr10:124405550 [GRCh38]
Chr10:126094119 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.149A>G (p.Tyr50Cys) single nucleotide variant Ornithine aminotransferase deficiency [RCV001280144] Chr10:124412023 [GRCh38]
Chr10:126100592 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.116C>T (p.Thr39Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV001277649] Chr10:124412056 [GRCh38]
Chr10:126100625 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.606G>A (p.Pro202=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001298509] Chr10:124405478 [GRCh38]
Chr10:126094047 [GRCh37]
Chr10:10q26.13		 likely benign|uncertain significance
NM_000274.4(OAT):c.997G>A (p.Ala333Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001306069] Chr10:124401743 [GRCh38]
Chr10:126090312 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1003G>T (p.Ala335Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV001341797] Chr10:124401737 [GRCh38]
Chr10:126090306 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1027G>C (p.Glu343Gln) single nucleotide variant Ornithine aminotransferase deficiency [RCV001348133] Chr10:124400972 [GRCh38]
Chr10:126089541 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.202A>G (p.Ile68Val) single nucleotide variant Ornithine aminotransferase deficiency [RCV001306873] Chr10:124408963 [GRCh38]
Chr10:126097532 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.965C>T (p.Thr322Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV001302218] Chr10:124401775 [GRCh38]
Chr10:126090344 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.511G>A (p.Val171Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV001305192] Chr10:124408551 [GRCh38]
Chr10:126097120 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.461G>A (p.Arg154His) single nucleotide variant Ornithine aminotransferase deficiency [RCV001317107] Chr10:124408601 [GRCh38]
Chr10:126097170 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1113A>G (p.Val371=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001397221] Chr10:124400886 [GRCh38]
Chr10:126089455 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.771+8C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV001434084] Chr10:124403790 [GRCh38]
Chr10:126092359 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1291A>G (p.Ile431Val) single nucleotide variant Ornithine aminotransferase deficiency [RCV001368083] Chr10:124397971 [GRCh38]
Chr10:126086540 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.981A>T (p.Pro327=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001414735] Chr10:124401759 [GRCh38]
Chr10:126090328 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1035T>C (p.Leu345=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001433501] Chr10:124400964 [GRCh38]
Chr10:126089533 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1077A>G (p.Glu359=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001395617] Chr10:124400922 [GRCh38]
Chr10:126089491 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.416T>G (p.Met139Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV001327620] Chr10:124408749 [GRCh38]
Chr10:126097318 [GRCh37]
Chr10:10q26.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000274.4(OAT):c.1110C>T (p.Ala370=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001395789] Chr10:124400889 [GRCh38]
Chr10:126089458 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.648+6T>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001294711] Chr10:124405430 [GRCh38]
Chr10:126093999 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.771+9G>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001392705] Chr10:124403789 [GRCh38]
Chr10:126092358 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.548C>G (p.Ser183Cys) single nucleotide variant Ornithine aminotransferase deficiency [RCV001371868] Chr10:124405536 [GRCh38]
Chr10:126094105 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1014+10G>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001415412] Chr10:124401716 [GRCh38]
Chr10:126090285 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.650G>A (p.Arg217His) single nucleotide variant Ornithine aminotransferase deficiency [RCV001309626] Chr10:124403919 [GRCh38]
Chr10:126092488 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.775C>G (p.Leu259Val) single nucleotide variant Ornithine aminotransferase deficiency [RCV001322003] Chr10:124403052 [GRCh38]
Chr10:126091621 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.43A>T (p.Ser15Cys) single nucleotide variant Ornithine aminotransferase deficiency [RCV001277650] Chr10:124412129 [GRCh38]
Chr10:126100698 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.966A>T (p.Thr322=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001280140] Chr10:124401774 [GRCh38]
Chr10:126090343 [GRCh37]
Chr10:10q26.13		 likely benign|uncertain significance
NM_000274.4(OAT):c.718G>A (p.Val240Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV001280141] Chr10:124403851 [GRCh38]
Chr10:126092420 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.823T>A (p.Trp275Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV001363702] Chr10:124403004 [GRCh38]
Chr10:126091573 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.853C>T (p.Pro285Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV001350167] Chr10:124402974 [GRCh38]
Chr10:126091543 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1286T>C (p.Ile429Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001301130] Chr10:124397976 [GRCh38]
Chr10:126086545 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.772-10T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001421725] Chr10:124403065 [GRCh38]
Chr10:126091634 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.711C>G (p.Gly237=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001413324] Chr10:124403858 [GRCh38]
Chr10:126092427 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1068G>T (p.Leu356Phe) single nucleotide variant Ornithine aminotransferase deficiency [RCV001280139] Chr10:124400931 [GRCh38]
Chr10:126089500 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.614A>G (p.Asp205Gly) single nucleotide variant Ornithine aminotransferase deficiency [RCV001280142] Chr10:124405470 [GRCh38]
Chr10:126094039 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1255G>C (p.Val419Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV001280137] Chr10:124398007 [GRCh38]
Chr10:126086576 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.352A>G (p.Asn118Asp) single nucleotide variant Inborn genetic diseases [RCV003246828]|Ornithine aminotransferase deficiency [RCV001280143] Chr10:124408813 [GRCh38]
Chr10:126097382 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.435T>C (p.Ala145=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001413192] Chr10:124408627 [GRCh38]
Chr10:126097196 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.240C>T (p.Asp80=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001457079] Chr10:124408925 [GRCh38]
Chr10:126097494 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1159+10T>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001505878] Chr10:124400830 [GRCh38]
Chr10:126089399 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.615C>T (p.Asp205=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001451095] Chr10:124405469 [GRCh38]
Chr10:126094038 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.900+10A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001436025] Chr10:124402917 [GRCh38]
Chr10:126091486 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.301C>T (p.Leu101=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001473599] Chr10:124408864 [GRCh38]
Chr10:126097433 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.948A>C (p.Pro316=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001506408] Chr10:124401792 [GRCh38]
Chr10:126090361 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1005A>G (p.Ala335=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001503441] Chr10:124401735 [GRCh38]
Chr10:126090304 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.772-17dup duplication Ornithine aminotransferase deficiency [RCV001521346] Chr10:124403064..124403065 [GRCh38]
Chr10:126091633..126091634 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1305C>A (p.Thr435=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001471259] Chr10:124397957 [GRCh38]
Chr10:126086526 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.748C>A (p.Arg250=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001488961] Chr10:124403821 [GRCh38]
Chr10:126092390 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1160-6del deletion Ornithine aminotransferase deficiency [RCV001459833] Chr10:124398108 [GRCh38]
Chr10:126086677 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.678G>T (p.Ala226=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001504349] Chr10:124403891 [GRCh38]
Chr10:126092460 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.200-9G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001461058] Chr10:124408974 [GRCh38]
Chr10:126097543 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.672G>C (p.Val224=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001478422] Chr10:124403897 [GRCh38]
Chr10:126092466 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1015-4G>A single nucleotide variant OAT-related condition [RCV003946098]|Ornithine aminotransferase deficiency [RCV001419400] Chr10:124400988 [GRCh38]
Chr10:126089557 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.771+9G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001486482] Chr10:124403789 [GRCh38]
Chr10:126092358 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1150G>T (p.Glu384Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV001389086] Chr10:124400849 [GRCh38]
Chr10:126089418 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1253_1260dup (p.Lys421delinsTrpTer) duplication Ornithine aminotransferase deficiency [RCV001387260] Chr10:124398001..124398002 [GRCh38]
Chr10:126086570..126086571 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.819T>A (p.Gly273=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001448903] Chr10:124403008 [GRCh38]
Chr10:126091577 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+231C>T single nucleotide variant not provided [RCV001643631] Chr10:124408311 [GRCh38]
Chr10:126096880 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.322T>C (p.Leu108=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001409547] Chr10:124408843 [GRCh38]
Chr10:126097412 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.901-1G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001377882] Chr10:124401840 [GRCh38]
Chr10:126090409 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.901-10T>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001402183] Chr10:124401849 [GRCh38]
Chr10:126090418 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1251G>A (p.Pro417=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001407424] Chr10:124398011 [GRCh38]
Chr10:126086580 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.504A>C (p.Ala168=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001426845] Chr10:124408558 [GRCh38]
Chr10:126097127 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.576del (p.Ser193fs) deletion Ornithine aminotransferase deficiency [RCV001390197] Chr10:124405508 [GRCh38]
Chr10:126094077 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1155C>A (p.Thr385=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001419182] Chr10:124400844 [GRCh38]
Chr10:126089413 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.624C>T (p.Pro208=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001431668] Chr10:124405460 [GRCh38]
Chr10:126094029 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.184C>T (p.Leu62=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001448010] Chr10:124411988 [GRCh38]
Chr10:126100557 [GRCh37]
Chr10:10q26.13		 likely benign
NC_000010.10:g.(?_126093995)_(126100239_?)del deletion Ornithine aminotransferase deficiency [RCV001387697] Chr10:126093995..126100239 [GRCh37]
Chr10:10q26.13		 pathogenic
NC_000010.10:g.(?_126100603)_126140009del deletion Ornithine aminotransferase deficiency [RCV001387698]   pathogenic
NM_000274.4(OAT):c.520+7G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001428309] Chr10:124408535 [GRCh38]
Chr10:126097104 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.879C>T (p.Ala293=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001428375] Chr10:124402948 [GRCh38]
Chr10:126091517 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.354C>T (p.Asn118=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001406121] Chr10:124408811 [GRCh38]
Chr10:126097380 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1056G>A (p.Leu352=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001436804] Chr10:124400943 [GRCh38]
Chr10:126089512 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.951G>A (p.Gly317=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001419546] Chr10:124401789 [GRCh38]
Chr10:126090358 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.643C>T (p.Leu215=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001408831] Chr10:124405441 [GRCh38]
Chr10:126094010 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+195_520+202del deletion not provided [RCV001581549] Chr10:124408340..124408347 [GRCh38]
Chr10:126096909..126096916 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1002C>T (p.Ile334=) single nucleotide variant OAT-related condition [RCV003946035]|Ornithine aminotransferase deficiency [RCV001394009] Chr10:124401738 [GRCh38]
Chr10:126090307 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.567A>G (p.Thr189=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001505249] Chr10:124405517 [GRCh38]
Chr10:126094086 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1126T>C (p.Leu376=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001478898] Chr10:124400873 [GRCh38]
Chr10:126089442 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.435T>G (p.Ala145=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001495604] Chr10:124408627 [GRCh38]
Chr10:126097196 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.634C>T (p.Leu212=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001454951] Chr10:124405450 [GRCh38]
Chr10:126094019 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.199+19C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV001520133]|not provided [RCV001685401]|not specified [RCV001529582] Chr10:124411954 [GRCh38]
Chr10:126100523 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.772-178C>G single nucleotide variant not provided [RCV001707171] Chr10:124403233 [GRCh38]
Chr10:126091802 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.957T>C (p.His319=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001503392] Chr10:124401783 [GRCh38]
Chr10:126090352 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+215T>C single nucleotide variant not provided [RCV001680344] Chr10:124408327 [GRCh38]
Chr10:126096896 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.648+193C>G single nucleotide variant not provided [RCV001652134] Chr10:124405243 [GRCh38]
Chr10:126093812 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.901-229ATAA[10] microsatellite not provided [RCV001698610] Chr10:124402048..124402049 [GRCh38]
Chr10:126090617..126090618 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+197A>T single nucleotide variant not provided [RCV001672246] Chr10:124408345 [GRCh38]
Chr10:126096914 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+199T>A single nucleotide variant not provided [RCV001667885] Chr10:124408343 [GRCh38]
Chr10:126096912 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.520+217T>C single nucleotide variant not provided [RCV001652641] Chr10:124408325 [GRCh38]
Chr10:126096894 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1160-108G>A single nucleotide variant not provided [RCV001688147] Chr10:124398210 [GRCh38]
Chr10:126086779 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.771+18_771+21del deletion Ornithine aminotransferase deficiency [RCV001514805] Chr10:124403777..124403780 [GRCh38]
Chr10:126092346..126092349 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.996G>A (p.Val332=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001506017] Chr10:124401744 [GRCh38]
Chr10:126090313 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.780del (p.Phe260fs) deletion Ornithine aminotransferase deficiency [RCV001384985] Chr10:124403047 [GRCh38]
Chr10:126091616 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.501A>G (p.Lys167=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001485930] Chr10:124408561 [GRCh38]
Chr10:126097130 [GRCh37]
Chr10:10q26.13		 likely benign
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 copy number loss See cases [RCV001526488] Chr10:122785023..135457222 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
NM_000274.4(OAT):c.480G>A (p.Val160=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001506493] Chr10:124408582 [GRCh38]
Chr10:126097151 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.93A>G (p.Lys31=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001495890] Chr10:124412079 [GRCh38]
Chr10:126100648 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.678G>A (p.Ala226=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001464278] Chr10:124403891 [GRCh38]
Chr10:126092460 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1137T>C (p.Ala379=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001503440] Chr10:124400862 [GRCh38]
Chr10:126089431 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.675T>C (p.Ala225=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001471324] Chr10:124403894 [GRCh38]
Chr10:126092463 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.612C>T (p.Phe204=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001496829] Chr10:124405472 [GRCh38]
Chr10:126094041 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.174A>G (p.Leu58=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001478953] Chr10:124411998 [GRCh38]
Chr10:126100567 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.924T>C (p.Asp308=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001498151] Chr10:124401816 [GRCh38]
Chr10:126090385 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+1G>T single nucleotide variant Ornithine aminotransferase deficiency [RCV001379927] Chr10:124408541 [GRCh38]
Chr10:126097110 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.1089A>T (p.Leu363=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001476578] Chr10:124400910 [GRCh38]
Chr10:126089479 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.678G>C (p.Ala226=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001496803] Chr10:124403891 [GRCh38]
Chr10:126092460 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1A>G (p.Met1Val) single nucleotide variant Ornithine aminotransferase deficiency [RCV001385599] Chr10:124412171 [GRCh38]
Chr10:126100740 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.900+7T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001425877] Chr10:124402920 [GRCh38]
Chr10:126091489 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.867C>T (p.Leu289=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001489056] Chr10:124402960 [GRCh38]
Chr10:126091529 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.648+8A>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001394075] Chr10:124405428 [GRCh38]
Chr10:126093997 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.543G>A (p.Thr181=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001472028] Chr10:124405541 [GRCh38]
Chr10:126094110 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.425-5G>T single nucleotide variant Ornithine aminotransferase deficiency [RCV001430829] Chr10:124408642 [GRCh38]
Chr10:126097211 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.78A>G (p.Thr26=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001456685] Chr10:124412094 [GRCh38]
Chr10:126100663 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.533G>T (p.Trp178Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV002025580] Chr10:124405551 [GRCh38]
Chr10:126094120 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.640G>T (p.Ala214Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV001864457] Chr10:124405444 [GRCh38]
Chr10:126094013 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.796C>A (p.Gln266Lys) single nucleotide variant Ornithine aminotransferase deficiency [RCV001863775] Chr10:124403031 [GRCh38]
Chr10:126091600 [GRCh37]
Chr10:10q26.13		 uncertain significance
NC_000010.10:g.(?_126086511)_(126100740_?)dup duplication Ornithine aminotransferase deficiency [RCV002043065] Chr10:126086511..126100740 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.181G>T (p.Ala61Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV001874278] Chr10:124411991 [GRCh38]
Chr10:126100560 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.844A>C (p.Asn282His) single nucleotide variant Ornithine aminotransferase deficiency [RCV002039970] Chr10:124402983 [GRCh38]
Chr10:126091552 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.515_516del (p.Phe172fs) deletion Ornithine aminotransferase deficiency [RCV001927264] Chr10:124408546..124408547 [GRCh38]
Chr10:126097115..126097116 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.649C>T (p.Arg217Cys) single nucleotide variant Inborn genetic diseases [RCV002554313]|Ornithine aminotransferase deficiency [RCV001893762] Chr10:124403920 [GRCh38]
Chr10:126092489 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.776del (p.Leu259fs) deletion Ornithine aminotransferase deficiency [RCV001946739] Chr10:124403051 [GRCh38]
Chr10:126091620 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1190T>G (p.Leu397Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV001985057] Chr10:124398072 [GRCh38]
Chr10:126086641 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1165G>T (p.Asp389Tyr) single nucleotide variant Ornithine aminotransferase deficiency [RCV002002001] Chr10:124398097 [GRCh38]
Chr10:126086666 [GRCh37]
Chr10:10q26.13		 uncertain significance
GRCh37/hg19 10q26.13(chr10:125920216-126732932) copy number loss not specified [RCV002052897] Chr10:125920216..126732932 [GRCh37]
Chr10:10q26.13		 uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) copy number loss not specified [RCV002052895] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
NM_000274.4(OAT):c.304_305del (p.Lys102fs) deletion Ornithine aminotransferase deficiency [RCV002007279] Chr10:124408860..124408861 [GRCh38]
Chr10:126097429..126097430 [GRCh37]
Chr10:10q26.13		 pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) copy number gain not specified [RCV002052894] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3		 likely pathogenic
NM_000274.4(OAT):c.1039G>A (p.Glu347Lys) single nucleotide variant Ornithine aminotransferase deficiency [RCV001986258] Chr10:124400960 [GRCh38]
Chr10:126089529 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.966del (p.Tyr323fs) deletion Ornithine aminotransferase deficiency [RCV001908681] Chr10:124401774 [GRCh38]
Chr10:126090343 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.124G>A (p.Asp42Asn) single nucleotide variant Ornithine aminotransferase deficiency [RCV001968577] Chr10:124412048 [GRCh38]
Chr10:126100617 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1301A>C (p.Lys434Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001926928] Chr10:124397961 [GRCh38]
Chr10:126086530 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.401A>G (p.His134Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV002006318] Chr10:124408764 [GRCh38]
Chr10:126097333 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.966A>G (p.Thr322=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001965574] Chr10:124401774 [GRCh38]
Chr10:126090343 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1090C>T (p.Pro364Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV001946115] Chr10:124400909 [GRCh38]
Chr10:126089478 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.881T>A (p.Leu294His) single nucleotide variant Ornithine aminotransferase deficiency [RCV001893527] Chr10:124402946 [GRCh38]
Chr10:126091515 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.772-4A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001927747] Chr10:124403059 [GRCh38]
Chr10:126091628 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.649-1G>C single nucleotide variant Ornithine aminotransferase deficiency [RCV001966080] Chr10:124403921 [GRCh38]
Chr10:126092490 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.429G>A (p.Val143=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001908515] Chr10:124408633 [GRCh38]
Chr10:126097202 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.680_702del (p.Ala226_Phe227insTer) deletion Ornithine aminotransferase deficiency [RCV001941738] Chr10:124403867..124403889 [GRCh38]
Chr10:126092436..126092458 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.46C>T (p.Arg16Cys) single nucleotide variant Ornithine aminotransferase deficiency [RCV001942629]|not specified [RCV002282619] Chr10:124412126 [GRCh38]
Chr10:126100695 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.772-1G>T single nucleotide variant Ornithine aminotransferase deficiency [RCV002000369] Chr10:124403056 [GRCh38]
Chr10:126091625 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.520+18T>G single nucleotide variant Ornithine aminotransferase deficiency [RCV001954429] Chr10:124408524 [GRCh38]
Chr10:126097093 [GRCh37]
Chr10:10q26.13		 likely benign|uncertain significance
NM_000274.4(OAT):c.1159+1G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001885922] Chr10:124400839 [GRCh38]
Chr10:126089408 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1320A>G (p.Ter440Trp) single nucleotide variant Ornithine aminotransferase deficiency [RCV002031250] Chr10:124397942 [GRCh38]
Chr10:126086511 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.796C>T (p.Gln266Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV002037794] Chr10:124403031 [GRCh38]
Chr10:126091600 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.166C>T (p.His56Tyr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001907480] Chr10:124412006 [GRCh38]
Chr10:126100575 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.992G>T (p.Arg331Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV002017331] Chr10:124401748 [GRCh38]
Chr10:126090317 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.792A>T (p.Glu264Asp) single nucleotide variant Ornithine aminotransferase deficiency [RCV001878198] Chr10:124403035 [GRCh38]
Chr10:126091604 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.49G>C (p.Gly17Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV001904457] Chr10:124412123 [GRCh38]
Chr10:126100692 [GRCh37]
Chr10:10q26.13		 uncertain significance
NC_000010.10:g.(?_126086501)_(126086681_?)del deletion Ornithine aminotransferase deficiency [RCV001962211] Chr10:126086501..126086681 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1166A>G (p.Asp389Gly) single nucleotide variant Ornithine aminotransferase deficiency [RCV002011223] Chr10:124398096 [GRCh38]
Chr10:126086665 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.58T>A (p.Ser20Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV002011280] Chr10:124412114 [GRCh38]
Chr10:126100683 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1001dup (p.Ala335fs) duplication Ornithine aminotransferase deficiency [RCV001939703] Chr10:124401738..124401739 [GRCh38]
Chr10:126090307..126090308 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.860T>C (p.Ile287Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001887046] Chr10:124402967 [GRCh38]
Chr10:126091536 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1163G>A (p.Trp388Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV001943000] Chr10:124398099 [GRCh38]
Chr10:126086668 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.901-3C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV001870348] Chr10:124401842 [GRCh38]
Chr10:126090411 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.96A>C (p.Lys32Asn) single nucleotide variant Ornithine aminotransferase deficiency [RCV001995541] Chr10:124412076 [GRCh38]
Chr10:126100645 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.427G>T (p.Val143Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV001955526] Chr10:124408635 [GRCh38]
Chr10:126097204 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.583G>A (p.Asp195Asn) single nucleotide variant Ornithine aminotransferase deficiency [RCV001935150] Chr10:124405501 [GRCh38]
Chr10:126094070 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1208T>C (p.Leu403Pro) single nucleotide variant Inborn genetic diseases [RCV003167145]|Ornithine aminotransferase deficiency [RCV001920637] Chr10:124398054 [GRCh38]
Chr10:126086623 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1135G>A (p.Ala379Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001903881] Chr10:124400864 [GRCh38]
Chr10:126089433 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.721_722dup (p.Asp242fs) duplication Ornithine aminotransferase deficiency [RCV001896982] Chr10:124403846..124403847 [GRCh38]
Chr10:126092415..126092416 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.648+13_648+14inv inversion Ornithine aminotransferase deficiency [RCV001932920] Chr10:124405422..124405423 [GRCh38]
Chr10:126093991..126093992 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.896dup (p.Tyr299Ter) duplication Ornithine aminotransferase deficiency [RCV001993136] Chr10:124402930..124402931 [GRCh38]
Chr10:126091499..126091500 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NC_000010.10:g.(?_126097101)_(126100750_?)del deletion Ornithine aminotransferase deficiency [RCV001975101] Chr10:126097101..126100750 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.307A>G (p.Ser103Gly) single nucleotide variant Ornithine aminotransferase deficiency [RCV001901824] Chr10:124408858 [GRCh38]
Chr10:126097427 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.845A>G (p.Asn282Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV001939729] Chr10:124402982 [GRCh38]
Chr10:126091551 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1084A>G (p.Lys362Glu) single nucleotide variant Ornithine aminotransferase deficiency [RCV001877683] Chr10:124400915 [GRCh38]
Chr10:126089484 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1198A>T (p.Asn400Tyr) single nucleotide variant Ornithine aminotransferase deficiency [RCV001886385] Chr10:124398064 [GRCh38]
Chr10:126086633 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.198del (p.Gly67fs) deletion Ornithine aminotransferase deficiency [RCV001953603] Chr10:124411974 [GRCh38]
Chr10:126100543 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.771_771+7del deletion Ornithine aminotransferase deficiency [RCV002030208] Chr10:124403791..124403798 [GRCh38]
Chr10:126092360..126092367 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.626A>G (p.Tyr209Cys) single nucleotide variant Ornithine aminotransferase deficiency [RCV002029023] Chr10:124405458 [GRCh38]
Chr10:126094027 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.881_900+51del deletion Hyperornithinemia [RCV002307832]|Ornithine aminotransferase deficiency [RCV002014178] Chr10:124402876..124402946 [GRCh38]
Chr10:126091445..126091515 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.425-13T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV002045887] Chr10:124408650 [GRCh38]
Chr10:126097219 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1056G>C (p.Leu352Phe) single nucleotide variant Ornithine aminotransferase deficiency [RCV002051451] Chr10:124400943 [GRCh38]
Chr10:126089512 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1179_1182dup (p.Leu395fs) microsatellite Ornithine aminotransferase deficiency [RCV001992720] Chr10:124398079..124398080 [GRCh38]
Chr10:126086648..126086649 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.809C>T (p.Ala270Val) single nucleotide variant Ornithine aminotransferase deficiency [RCV001990135] Chr10:124403018 [GRCh38]
Chr10:126091587 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.519A>G (p.Ala173=) single nucleotide variant Ornithine aminotransferase deficiency [RCV001957886] Chr10:124408543 [GRCh38]
Chr10:126097112 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1184T>G (p.Leu395Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV002046282] Chr10:124398078 [GRCh38]
Chr10:126086647 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1272G>T (p.Glu424Asp) single nucleotide variant Ornithine aminotransferase deficiency [RCV002015459] Chr10:124397990 [GRCh38]
Chr10:126086559 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1249C>T (p.Pro417Ser) single nucleotide variant OAT-related condition [RCV003401984]|Ornithine aminotransferase deficiency [RCV001990500] Chr10:124398013 [GRCh38]
Chr10:126086582 [GRCh37]
Chr10:10q26.13		 likely pathogenic|uncertain significance
NM_000274.4(OAT):c.391T>C (p.Phe131Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV001936477] Chr10:124408774 [GRCh38]
Chr10:126097343 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1311G>A (p.Leu437=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002210885] Chr10:124397951 [GRCh38]
Chr10:126086520 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.200-14del deletion Ornithine aminotransferase deficiency [RCV002110202] Chr10:124408979 [GRCh38]
Chr10:126097548 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.424+8A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV002209102] Chr10:124408733 [GRCh38]
Chr10:126097302 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.901-12A>T single nucleotide variant Ornithine aminotransferase deficiency [RCV002206910] Chr10:124401851 [GRCh38]
Chr10:126090420 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1212C>G (p.Ala404=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002148133] Chr10:124398050 [GRCh38]
Chr10:126086619 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.772-19T>A single nucleotide variant Ornithine aminotransferase deficiency [RCV002128742] Chr10:124403074 [GRCh38]
Chr10:126091643 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.102C>A (p.Val34=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002167364] Chr10:124412070 [GRCh38]
Chr10:126100639 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.147G>A (p.Lys49=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002146310] Chr10:124412025 [GRCh38]
Chr10:126100594 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.900+17C>G single nucleotide variant Ornithine aminotransferase deficiency [RCV002206997] Chr10:124402910 [GRCh38]
Chr10:126091479 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.192A>G (p.Arg64=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002186283] Chr10:124411980 [GRCh38]
Chr10:126100549 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1160-12A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV002088764] Chr10:124398114 [GRCh38]
Chr10:126086683 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.108C>T (p.Gly36=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002172363] Chr10:124412064 [GRCh38]
Chr10:126100633 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1015-4G>C single nucleotide variant Ornithine aminotransferase deficiency [RCV002153677] Chr10:124400988 [GRCh38]
Chr10:126089557 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.789T>C (p.Asp263=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002212837] Chr10:124403038 [GRCh38]
Chr10:126091607 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.807G>A (p.Leu269=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002131219] Chr10:124403020 [GRCh38]
Chr10:126091589 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.264C>T (p.Val88=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002076557] Chr10:124408901 [GRCh38]
Chr10:126097470 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.649-7T>A single nucleotide variant Ornithine aminotransferase deficiency [RCV002093870] Chr10:124403927 [GRCh38]
Chr10:126092496 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.864C>G (p.Val288=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002165112] Chr10:124402963 [GRCh38]
Chr10:126091532 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1035T>A (p.Leu345=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002133199] Chr10:124400964 [GRCh38]
Chr10:126089533 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.720T>C (p.Val240=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002080016] Chr10:124403849 [GRCh38]
Chr10:126092418 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.504A>G (p.Ala168=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002151170] Chr10:124408558 [GRCh38]
Chr10:126097127 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.199+20G>T single nucleotide variant Ornithine aminotransferase deficiency [RCV002133017] Chr10:124411953 [GRCh38]
Chr10:126100522 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1188A>G (p.Arg396=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002170484] Chr10:124398074 [GRCh38]
Chr10:126086643 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1186C>A (p.Arg396=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002170485] Chr10:124398076 [GRCh38]
Chr10:126086645 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.538A>C (p.Arg180=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002091435] Chr10:124405546 [GRCh38]
Chr10:126094115 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1017T>C (p.Val339=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002152912] Chr10:124400982 [GRCh38]
Chr10:126089551 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.636G>T (p.Leu212=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002105646] Chr10:124405448 [GRCh38]
Chr10:126094017 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1293T>A (p.Ile431=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002124433] Chr10:124397969 [GRCh38]
Chr10:126086538 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.771+10T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV002205625] Chr10:124403788 [GRCh38]
Chr10:126092357 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.447C>A (p.Ala149=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002173226] Chr10:124408615 [GRCh38]
Chr10:126097184 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.75T>C (p.Ala25=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002192165] Chr10:124412097 [GRCh38]
Chr10:126100666 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.117C>G (p.Thr39=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002185393] Chr10:124412055 [GRCh38]
Chr10:126100624 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.90T>G (p.Thr30=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002173878] Chr10:124412082 [GRCh38]
Chr10:126100651 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.927C>T (p.Asp309=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002185514] Chr10:124401813 [GRCh38]
Chr10:126090382 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1053A>G (p.Lys351=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002110282] Chr10:124400946 [GRCh38]
Chr10:126089515 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.723G>C (p.Pro241=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002121345] Chr10:124403846 [GRCh38]
Chr10:126092415 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.901-10T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV002103676] Chr10:124401849 [GRCh38]
Chr10:126090418 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.649-18T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV002197978] Chr10:124403938 [GRCh38]
Chr10:126092507 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.648+12G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV002219145] Chr10:124405424 [GRCh38]
Chr10:126093993 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.984A>G (p.Leu328=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002154987] Chr10:124401756 [GRCh38]
Chr10:126090325 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.649-17T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV002102776] Chr10:124403937 [GRCh38]
Chr10:126092506 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.315G>C (p.Val105=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002219862] Chr10:124408850 [GRCh38]
Chr10:126097419 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.336T>C (p.Ser112=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002157417] Chr10:124408829 [GRCh38]
Chr10:126097398 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.627T>C (p.Tyr209=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002218213] Chr10:124405457 [GRCh38]
Chr10:126094026 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.297T>C (p.Asn99=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002082161] Chr10:124408868 [GRCh38]
Chr10:126097437 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.516T>C (p.Phe172=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002201705] Chr10:124408546 [GRCh38]
Chr10:126097115 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1284C>T (p.Ser428=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002175576] Chr10:124397978 [GRCh38]
Chr10:126086547 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1050C>T (p.Asp350=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002121889] Chr10:124400949 [GRCh38]
Chr10:126089518 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.327C>G (p.Thr109=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002123421] Chr10:124408838 [GRCh38]
Chr10:126097407 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.300T>C (p.Ala100=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002143209] Chr10:124408865 [GRCh38]
Chr10:126097434 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1032C>T (p.Asn344=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002198940] Chr10:124400967 [GRCh38]
Chr10:126089536 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1014+17C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV002218886] Chr10:124401709 [GRCh38]
Chr10:126090278 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.939C>A (p.Thr313=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002156629] Chr10:124401801 [GRCh38]
Chr10:126090370 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.210A>G (p.Leu70=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002198470] Chr10:124408955 [GRCh38]
Chr10:126097524 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.48C>A (p.Arg16=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002181752] Chr10:124412124 [GRCh38]
Chr10:126100693 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1160-16T>A single nucleotide variant Ornithine aminotransferase deficiency [RCV002160642] Chr10:124398118 [GRCh38]
Chr10:126086687 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.771+8C>G single nucleotide variant Ornithine aminotransferase deficiency [RCV002122361] Chr10:124403790 [GRCh38]
Chr10:126092359 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.900+15C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV002099255] Chr10:124402912 [GRCh38]
Chr10:126091481 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.24G>A (p.Leu8=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002204278] Chr10:124412148 [GRCh38]
Chr10:126100717 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.753G>A (p.Glu251=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002204788] Chr10:124403816 [GRCh38]
Chr10:126092385 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+10A>C single nucleotide variant Ornithine aminotransferase deficiency [RCV002124267] Chr10:124408532 [GRCh38]
Chr10:126097101 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.424+6dup duplication Ornithine aminotransferase deficiency [RCV002124284] Chr10:124408734..124408735 [GRCh38]
Chr10:126097303..126097304 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.199+20G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV002103358] Chr10:124411953 [GRCh38]
Chr10:126100522 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.915G>A (p.Leu305=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003110880] Chr10:124401825 [GRCh38]
Chr10:126090394 [GRCh37]
Chr10:10q26.13		 likely benign
NC_000010.10:g.(?_126089399)_(126089563_?)del deletion Ornithine aminotransferase deficiency [RCV003109317] Chr10:126089399..126089563 [GRCh37]
Chr10:10q26.13		 pathogenic
NC_000010.10:g.(?_126097101)_(126097544_?)del deletion Ornithine aminotransferase deficiency [RCV003109318] Chr10:126097101..126097544 [GRCh37]
Chr10:10q26.13		 pathogenic
NC_000010.10:g.(?_126089389)_(126090428_?)dup duplication Ornithine aminotransferase deficiency [RCV003109319] Chr10:126089389..126090428 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.500A>C (p.Lys167Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV003114931] Chr10:124408562 [GRCh38]
Chr10:126097131 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1076A>G (p.Glu359Gly) single nucleotide variant Ornithine aminotransferase deficiency [RCV003115054] Chr10:124400923 [GRCh38]
Chr10:126089492 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.649-240T>C single nucleotide variant not provided [RCV002286107] Chr10:124404160 [GRCh38]
Chr10:126092729 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1187G>T (p.Arg396Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV003012357] Chr10:124398075 [GRCh38]
Chr10:126086644 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.466T>A (p.Trp156Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV002300420] Chr10:124408596 [GRCh38]
Chr10:126097165 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.498C>G (p.Tyr166Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV002686238] Chr10:124408564 [GRCh38]
Chr10:126097133 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.773T>A (p.Val258Asp) single nucleotide variant Ornithine aminotransferase deficiency [RCV002903767] Chr10:124403054 [GRCh38]
Chr10:126091623 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.756C>T (p.Leu252=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002995451] Chr10:124403813 [GRCh38]
Chr10:126092382 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.992G>A (p.Arg331Gln) single nucleotide variant Ornithine aminotransferase deficiency [RCV002994448] Chr10:124401748 [GRCh38]
Chr10:126090317 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.182_189del (p.Ala61fs) deletion Ornithine aminotransferase deficiency [RCV002904116] Chr10:124411983..124411990 [GRCh38]
Chr10:126100552..126100559 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.199+18C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV003075788] Chr10:124411955 [GRCh38]
Chr10:126100524 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.573A>G (p.Pro191=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003034002] Chr10:124405511 [GRCh38]
Chr10:126094080 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1300A>G (p.Lys434Glu) single nucleotide variant Ornithine aminotransferase deficiency [RCV002994021] Chr10:124397962 [GRCh38]
Chr10:126086531 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1276C>A (p.Arg426=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002862680] Chr10:124397986 [GRCh38]
Chr10:126086555 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1160-20G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003075739] Chr10:124398122 [GRCh38]
Chr10:126086691 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.911T>G (p.Val304Gly) single nucleotide variant Ornithine aminotransferase deficiency [RCV002994247] Chr10:124401829 [GRCh38]
Chr10:126090398 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.865C>T (p.Leu289Phe) single nucleotide variant Inborn genetic diseases [RCV002880017] Chr10:124402962 [GRCh38]
Chr10:126091531 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.395A>G (p.Asn132Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV002842662] Chr10:124408770 [GRCh38]
Chr10:126097339 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.478G>C (p.Val160Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV002731474] Chr10:124408584 [GRCh38]
Chr10:126097153 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.468G>A (p.Trp156Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV003016614] Chr10:124408594 [GRCh38]
Chr10:126097163 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1294A>T (p.Ile432Phe) single nucleotide variant Ornithine aminotransferase deficiency [RCV003038265] Chr10:124397968 [GRCh38]
Chr10:126086537 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1179G>A (p.Val393=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002999872] Chr10:124398083 [GRCh38]
Chr10:126086652 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.642A>G (p.Ala214=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002871388] Chr10:124405442 [GRCh38]
Chr10:126094011 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.565A>G (p.Thr189Ala) single nucleotide variant Ornithine aminotransferase deficiency [RCV002622132] Chr10:124405519 [GRCh38]
Chr10:126094088 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.772-9C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV003038633] Chr10:124403064 [GRCh38]
Chr10:126091633 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.521-9C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV002871138] Chr10:124405572 [GRCh38]
Chr10:126094141 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.619A>T (p.Ile207Phe) single nucleotide variant Ornithine aminotransferase deficiency [RCV002796167] Chr10:124405465 [GRCh38]
Chr10:126094034 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.465G>A (p.Lys155=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002866695] Chr10:124408597 [GRCh38]
Chr10:126097166 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.34G>T (p.Ala12Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV002999902] Chr10:124412138 [GRCh38]
Chr10:126100707 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.982C>T (p.Leu328=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002780872] Chr10:124401758 [GRCh38]
Chr10:126090327 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.296A>G (p.Asn99Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV003019322] Chr10:124408869 [GRCh38]
Chr10:126097438 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.712G>A (p.Val238Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV003053355] Chr10:124403857 [GRCh38]
Chr10:126092426 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1055T>C (p.Leu352Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV002795570] Chr10:124400944 [GRCh38]
Chr10:126089513 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.986G>C (p.Gly329Ala) single nucleotide variant Ornithine aminotransferase deficiency [RCV002638444] Chr10:124401754 [GRCh38]
Chr10:126090323 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.840T>C (p.Tyr280=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002591851] Chr10:124402987 [GRCh38]
Chr10:126091556 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.44G>T (p.Ser15Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV002761139] Chr10:124412128 [GRCh38]
Chr10:126100697 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.604C>T (p.Pro202Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV002622598] Chr10:124405480 [GRCh38]
Chr10:126094049 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.697C>T (p.Gln233Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV002621041] Chr10:124403872 [GRCh38]
Chr10:126092441 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.473A>C (p.Tyr158Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV003079116] Chr10:124408589 [GRCh38]
Chr10:126097158 [GRCh37]
Chr10:10q26.13		 likely pathogenic|uncertain significance
NM_000274.4(OAT):c.228A>G (p.Arg76=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002695101] Chr10:124408937 [GRCh38]
Chr10:126097506 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.102C>T (p.Val34=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002785377] Chr10:124412070 [GRCh38]
Chr10:126100639 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1254G>A (p.Leu418=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003054542] Chr10:124398008 [GRCh38]
Chr10:126086577 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.900+20del deletion Ornithine aminotransferase deficiency [RCV003035298] Chr10:124402907 [GRCh38]
Chr10:126091476 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.112C>T (p.Pro38Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV002596131] Chr10:124412060 [GRCh38]
Chr10:126100629 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1014G>A (p.Glu338=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002596265] Chr10:124401726 [GRCh38]
Chr10:126090295 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.200-13T>A single nucleotide variant Ornithine aminotransferase deficiency [RCV002645603] Chr10:124408978 [GRCh38]
Chr10:126097547 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1252C>T (p.Leu418=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003084882] Chr10:124398010 [GRCh38]
Chr10:126086579 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1159+2_1159+3insAAAGAAACCAAAGGTGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCGCTACAACCACCTCCCAGCCGCCTGCCTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA insertion Ornithine aminotransferase deficiency [RCV003041076] Chr10:124400837..124400838 [GRCh38]
Chr10:126089406..126089407 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.934C>A (p.Leu312Met) single nucleotide variant Ornithine aminotransferase deficiency [RCV002805900] Chr10:124401806 [GRCh38]
Chr10:126090375 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.48C>G (p.Arg16=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002895168] Chr10:124412124 [GRCh38]
Chr10:126100693 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.531C>T (p.Phe177=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003022381] Chr10:124405553 [GRCh38]
Chr10:126094122 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.771+20G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV002928558] Chr10:124403778 [GRCh38]
Chr10:126092347 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.402C>T (p.His134=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003057762] Chr10:124408763 [GRCh38]
Chr10:126097332 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.384T>C (p.Thr128=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002852710] Chr10:124408781 [GRCh38]
Chr10:126097350 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1312T>A (p.Ser438Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV002572205] Chr10:124397950 [GRCh38]
Chr10:126086519 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA indel Ornithine aminotransferase deficiency [RCV003056367] Chr10:124403789..124403805 [GRCh38]
Chr10:126092358..126092374 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.515T>C (p.Phe172Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV002624363] Chr10:124408547 [GRCh38]
Chr10:126097116 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.126C>T (p.Asp42=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002876460] Chr10:124412046 [GRCh38]
Chr10:126100615 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.603G>T (p.Met201Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV002664113] Chr10:124405481 [GRCh38]
Chr10:126094050 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1036G>A (p.Ala346Thr) single nucleotide variant Ornithine aminotransferase deficiency [RCV003058044] Chr10:124400963 [GRCh38]
Chr10:126089532 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.578G>A (p.Ser193Asn) single nucleotide variant Ornithine aminotransferase deficiency [RCV003083385] Chr10:124405506 [GRCh38]
Chr10:126094075 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.199+19C>A single nucleotide variant Ornithine aminotransferase deficiency [RCV002663260] Chr10:124411954 [GRCh38]
Chr10:126100523 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.285C>T (p.Pro95=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002851707] Chr10:124408880 [GRCh38]
Chr10:126097449 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.63A>G (p.Ser21=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003042279] Chr10:124412109 [GRCh38]
Chr10:126100678 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1164G>A (p.Trp388Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV002985439] Chr10:124398098 [GRCh38]
Chr10:126086667 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.312A>G (p.Gln104=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003040827] Chr10:124408853 [GRCh38]
Chr10:126097422 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.543G>T (p.Thr181=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003025515] Chr10:124405541 [GRCh38]
Chr10:126094110 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.605C>T (p.Pro202Leu) single nucleotide variant Ornithine aminotransferase deficiency [RCV003084663] Chr10:124405479 [GRCh38]
Chr10:126094048 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.442A>T (p.Thr148Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV003081849] Chr10:124408620 [GRCh38]
Chr10:126097189 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1159+15C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV002629386] Chr10:124400825 [GRCh38]
Chr10:126089394 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1111G>A (p.Val371Ile) single nucleotide variant Ornithine aminotransferase deficiency [RCV003061439] Chr10:124400888 [GRCh38]
Chr10:126089457 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1159G>C (p.Asp387His) single nucleotide variant Ornithine aminotransferase deficiency [RCV003049256] Chr10:124400840 [GRCh38]
Chr10:126089409 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.723G>A (p.Pro241=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002632733] Chr10:124403846 [GRCh38]
Chr10:126092415 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.159C>T (p.His53=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003048649] Chr10:124412013 [GRCh38]
Chr10:126100582 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1104A>G (p.Val368=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002791889] Chr10:124400895 [GRCh38]
Chr10:126089464 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.839A>G (p.Tyr280Cys) single nucleotide variant Ornithine aminotransferase deficiency [RCV003060309] Chr10:124402988 [GRCh38]
Chr10:126091557 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.158A>G (p.His53Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV002629088] Chr10:124412014 [GRCh38]
Chr10:126100583 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.199+17T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV002959210] Chr10:124411956 [GRCh38]
Chr10:126100525 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.956A>G (p.His319Arg) single nucleotide variant Ornithine aminotransferase deficiency [RCV002933788] Chr10:124401784 [GRCh38]
Chr10:126090353 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.922G>A (p.Asp308Asn) single nucleotide variant Ornithine aminotransferase deficiency [RCV002716540] Chr10:124401818 [GRCh38]
Chr10:126090387 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1314T>C (p.Ser438=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003090849] Chr10:124397948 [GRCh38]
Chr10:126086517 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1160A>G (p.Asp387Gly) single nucleotide variant Ornithine aminotransferase deficiency [RCV002631122] Chr10:124398102 [GRCh38]
Chr10:126086671 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1299C>T (p.Asn433=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002577675] Chr10:124397963 [GRCh38]
Chr10:126086532 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1014+6G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003087089] Chr10:124401720 [GRCh38]
Chr10:126090289 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.561T>C (p.Ser187=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002599744] Chr10:124405523 [GRCh38]
Chr10:126094092 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.876G>A (p.Lys292=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002675657] Chr10:124402951 [GRCh38]
Chr10:126091520 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1014+8C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV002877310] Chr10:124401718 [GRCh38]
Chr10:126090287 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.109C>G (p.Pro37Ala) single nucleotide variant Ornithine aminotransferase deficiency [RCV002834393] Chr10:124412063 [GRCh38]
Chr10:126100632 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.772-10del deletion Ornithine aminotransferase deficiency [RCV003061240] Chr10:124403065 [GRCh38]
Chr10:126091634 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.152G>A (p.Gly51Asp) single nucleotide variant Ornithine aminotransferase deficiency [RCV003062303] Chr10:124412020 [GRCh38]
Chr10:126100589 [GRCh37]
Chr10:10q26.13		 pathogenic|likely pathogenic
NM_000274.4(OAT):c.630T>C (p.Asn210=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003087322] Chr10:124405454 [GRCh38]
Chr10:126094023 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.426del (p.Val143fs) deletion Ornithine aminotransferase deficiency [RCV003049551] Chr10:124408636 [GRCh38]
Chr10:126097205 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1014+19A>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003050871] Chr10:124401707 [GRCh38]
Chr10:126090276 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1014+16G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003067767] Chr10:124401710 [GRCh38]
Chr10:126090279 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+4T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV002603152] Chr10:124408538 [GRCh38]
Chr10:126097107 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1222C>G (p.His408Asp) single nucleotide variant Ornithine aminotransferase deficiency [RCV002942943] Chr10:124398040 [GRCh38]
Chr10:126086609 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.460C>T (p.Arg154Cys) single nucleotide variant Ornithine aminotransferase deficiency [RCV003066985] Chr10:124408602 [GRCh38]
Chr10:126097171 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1231A>G (p.Ile411Val) single nucleotide variant Ornithine aminotransferase deficiency [RCV002654294] Chr10:124398031 [GRCh38]
Chr10:126086600 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1073A>G (p.Asn358Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV002584789] Chr10:124400926 [GRCh38]
Chr10:126089495 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1112dup (p.Arg372fs) duplication Ornithine aminotransferase deficiency [RCV003459783]|not provided [RCV003128967] Chr10:124400886..124400887 [GRCh38]
Chr10:126089455..126089456 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.1080C>G (p.Leu360=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002609593] Chr10:124400919 [GRCh38]
Chr10:126089488 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.47G>A (p.Arg16His) single nucleotide variant Ornithine aminotransferase deficiency [RCV003051000] Chr10:124412125 [GRCh38]
Chr10:126100694 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.111T>C (p.Pro37=) single nucleotide variant Ornithine aminotransferase deficiency [RCV002586990] Chr10:124412061 [GRCh38]
Chr10:126100630 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.175C>T (p.Pro59Ser) single nucleotide variant Ornithine aminotransferase deficiency [RCV002606045] Chr10:124411997 [GRCh38]
Chr10:126100566 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.613_614delinsAC (p.Asp205Thr) indel Ornithine aminotransferase deficiency [RCV003051489] Chr10:124405470..124405471 [GRCh38]
Chr10:126094039..126094040 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.636G>A (p.Leu212=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003050116] Chr10:124405448 [GRCh38]
Chr10:126094017 [GRCh37]
Chr10:10q26.13		 likely benign
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 copy number loss not provided [RCV003222684] Chr10:122610933..135439810 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) copy number loss Distal 10q deletion syndrome [RCV003319590] Chr10:123477898..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1 copy number loss Distal 10q deletion syndrome [RCV003329543] Chr10:124895517..135440296 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
NM_000274.4(OAT):c.581dup (p.Tyr194Ter) duplication Ornithine aminotransferase deficiency [RCV003463216] Chr10:124405502..124405503 [GRCh38]
Chr10:126094071..126094072 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.49G>T (p.Gly17Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV003463217] Chr10:124412123 [GRCh38]
Chr10:126100692 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.900+1G>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003463214] Chr10:124402926 [GRCh38]
Chr10:126091495 [GRCh37]
Chr10:10q26.13		 likely pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_000274.4(OAT):c.1160-1G>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003471621] Chr10:124398103 [GRCh38]
Chr10:126086672 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.630_631insA (p.Asp211fs) insertion Ornithine aminotransferase deficiency [RCV003471623] Chr10:124405453..124405454 [GRCh38]
Chr10:126094022..126094023 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.582C>G (p.Tyr194Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV003471625] Chr10:124405502 [GRCh38]
Chr10:126094071 [GRCh37]
Chr10:10q26.13		 likely pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_000274.4(OAT):c.592_601del (p.Gly198fs) deletion Ornithine aminotransferase deficiency [RCV003471622] Chr10:124405483..124405492 [GRCh38]
Chr10:126094052..126094061 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.899del (p.Pro300fs) deletion Ornithine aminotransferase deficiency [RCV003463215] Chr10:124402928 [GRCh38]
Chr10:126091497 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.969C>G (p.Tyr323Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV003471624] Chr10:124401771 [GRCh38]
Chr10:126090340 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.759C>A (p.Cys253Ter) single nucleotide variant Ornithine aminotransferase deficiency [RCV003471620] Chr10:124403810 [GRCh38]
Chr10:126092379 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.199+9C>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003495847] Chr10:124411964 [GRCh38]
Chr10:126100533 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.717T>C (p.Val239=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003598752] Chr10:124403852 [GRCh38]
Chr10:126092421 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1015-9dup duplication Ornithine aminotransferase deficiency [RCV003495911] Chr10:124400992..124400993 [GRCh38]
Chr10:126089561..126089562 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.267C>T (p.Asn89=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003597510] Chr10:124408898 [GRCh38]
Chr10:126097467 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.483G>A (p.Lys161=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003599336] Chr10:124408579 [GRCh38]
Chr10:126097148 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.648+20G>T single nucleotide variant Ornithine aminotransferase deficiency [RCV003494659] Chr10:124405416 [GRCh38]
Chr10:126093985 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.714T>A (p.Val238=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003599374] Chr10:124403855 [GRCh38]
Chr10:126092424 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1160-43_1160-15del deletion Ornithine aminotransferase deficiency [RCV003598329] Chr10:124398117..124398145 [GRCh38]
Chr10:126086686..126086714 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.661_701del (p.Gln220_Asp221insTer) deletion Ornithine aminotransferase deficiency [RCV003599737] Chr10:124403868..124403908 [GRCh38]
Chr10:126092437..126092477 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.200-6T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003598506] Chr10:124408971 [GRCh38]
Chr10:126097540 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.199+8T>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003495605] Chr10:124411965 [GRCh38]
Chr10:126100534 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.771+8_771+10dup duplication Ornithine aminotransferase deficiency [RCV003597956] Chr10:124403787..124403788 [GRCh38]
Chr10:126092356..126092357 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.649-13G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003598821] Chr10:124403933 [GRCh38]
Chr10:126092502 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.648+19A>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003599450] Chr10:124405417 [GRCh38]
Chr10:126093986 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.424+1G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003599615] Chr10:124408740 [GRCh38]
Chr10:126097309 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.1140del (p.Ile380fs) deletion Ornithine aminotransferase deficiency [RCV003496271] Chr10:124400859 [GRCh38]
Chr10:126089428 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.591dup (p.Gly198fs) duplication Ornithine aminotransferase deficiency [RCV003599738] Chr10:124405492..124405493 [GRCh38]
Chr10:126094061..126094062 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.772-5A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV003598901] Chr10:124403060 [GRCh38]
Chr10:126091629 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1014+19A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV003599845] Chr10:124401707 [GRCh38]
Chr10:126090276 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1227C>A (p.Gly409=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003599070] Chr10:124398035 [GRCh38]
Chr10:126086604 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.414T>C (p.Pro138=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003597475] Chr10:124408751 [GRCh38]
Chr10:126097320 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.900+15C>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003599109] Chr10:124402912 [GRCh38]
Chr10:126091481 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.525del (p.Asn176fs) deletion Ornithine aminotransferase deficiency [RCV003599732] Chr10:124405559 [GRCh38]
Chr10:126094128 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1008C>T (p.Ala336=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003495926] Chr10:124401732 [GRCh38]
Chr10:126090301 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.141A>G (p.Glu47=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003597514] Chr10:124412031 [GRCh38]
Chr10:126100600 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.425-20A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV003599186] Chr10:124408657 [GRCh38]
Chr10:126097226 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1159+16A>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003599220] Chr10:124400824 [GRCh38]
Chr10:126089393 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.258T>C (p.Ser86=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003597667] Chr10:124408907 [GRCh38]
Chr10:126097476 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.834T>C (p.Val278=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003597749] Chr10:124402993 [GRCh38]
Chr10:126091562 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1155C>T (p.Thr385=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003599330] Chr10:124400844 [GRCh38]
Chr10:126089413 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.771+13G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003597895] Chr10:124403785 [GRCh38]
Chr10:126092354 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.864C>T (p.Val288=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003597632] Chr10:124402963 [GRCh38]
Chr10:126091532 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.425-4A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV003597728] Chr10:124408641 [GRCh38]
Chr10:126097210 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1309T>C (p.Leu437=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003495461] Chr10:124397953 [GRCh38]
Chr10:126086522 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.772-20del deletion Ornithine aminotransferase deficiency [RCV003496053] Chr10:124403075 [GRCh38]
Chr10:126091644 [GRCh37]
Chr10:10q26.13		 benign
NM_000274.4(OAT):c.1221C>G (p.Thr407=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003496660] Chr10:124398041 [GRCh38]
Chr10:126086610 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1015-6del deletion Ornithine aminotransferase deficiency [RCV003825138] Chr10:124400990 [GRCh38]
Chr10:126089559 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.425-11T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003597896] Chr10:124408648 [GRCh38]
Chr10:126097217 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.520+17A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV003881823] Chr10:124408525 [GRCh38]
Chr10:126097094 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.633T>C (p.Asp211=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003599371] Chr10:124405451 [GRCh38]
Chr10:126094020 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.649-14T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003598619] Chr10:124403934 [GRCh38]
Chr10:126092503 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.360T>C (p.Leu120=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003598625] Chr10:124408805 [GRCh38]
Chr10:126097374 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1215G>A (p.Lys405=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003496363] Chr10:124398047 [GRCh38]
Chr10:126086616 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.771+14C>G single nucleotide variant Ornithine aminotransferase deficiency [RCV003599586] Chr10:124403784 [GRCh38]
Chr10:126092353 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.114A>G (p.Pro38=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003496391] Chr10:124412058 [GRCh38]
Chr10:126100627 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.843A>G (p.Glu281=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003599076] Chr10:124402984 [GRCh38]
Chr10:126091553 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.219A>C (p.Val73=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003599415] Chr10:124408946 [GRCh38]
Chr10:126097515 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.771+2T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003598299] Chr10:124403796 [GRCh38]
Chr10:126092365 [GRCh37]
Chr10:10q26.13		 likely pathogenic
NM_000274.4(OAT):c.1160-13T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003598849] Chr10:124398115 [GRCh38]
Chr10:126086684 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.648+20G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003599425] Chr10:124405416 [GRCh38]
Chr10:126093985 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.901-20G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003599443] Chr10:124401859 [GRCh38]
Chr10:126090428 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.649-5T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003598865] Chr10:124403925 [GRCh38]
Chr10:126092494 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.900+12G>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003494671] Chr10:124402915 [GRCh38]
Chr10:126091484 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.33T>C (p.Phe11=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003828112] Chr10:124412139 [GRCh38]
Chr10:126100708 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.988_991dup (p.Arg331fs) duplication Ornithine aminotransferase deficiency [RCV003496533] Chr10:124401748..124401749 [GRCh38]
Chr10:126090317..126090318 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.1015-4G>T single nucleotide variant Ornithine aminotransferase deficiency [RCV003598979] Chr10:124400988 [GRCh38]
Chr10:126089557 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1del (p.Met1fs) deletion Ornithine aminotransferase deficiency [RCV003597477] Chr10:124412171 [GRCh38]
Chr10:126100740 [GRCh37]
Chr10:10q26.13		 pathogenic
NM_000274.4(OAT):c.772-20G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV003878445] Chr10:124403075 [GRCh38]
Chr10:126091644 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.162C>T (p.Asn54=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003496652] Chr10:124412010 [GRCh38]
Chr10:126100579 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1230C>T (p.Asp410=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003598512] Chr10:124398032 [GRCh38]
Chr10:126086601 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.276T>C (p.His92=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003597620] Chr10:124408889 [GRCh38]
Chr10:126097458 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1285A>G (p.Ile429Val) single nucleotide variant Ornithine aminotransferase deficiency [RCV003597683] Chr10:124397977 [GRCh38]
Chr10:126086546 [GRCh37]
Chr10:10q26.13		 uncertain significance
NM_000274.4(OAT):c.1015-18A>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003495871] Chr10:124401002 [GRCh38]
Chr10:126089571 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1227C>G (p.Gly409=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003497176] Chr10:124398035 [GRCh38]
Chr10:126086604 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1014+14C>G single nucleotide variant Ornithine aminotransferase deficiency [RCV003852062] Chr10:124401712 [GRCh38]
Chr10:126090281 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.901-15T>C single nucleotide variant Ornithine aminotransferase deficiency [RCV003816620] Chr10:124401854 [GRCh38]
Chr10:126090423 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.199+20del deletion Ornithine aminotransferase deficiency [RCV003856434] Chr10:124411953 [GRCh38]
Chr10:126100522 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.777C>T (p.Leu259=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003497198] Chr10:124403050 [GRCh38]
Chr10:126091619 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1284C>G (p.Ser428=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003497271] Chr10:124397978 [GRCh38]
Chr10:126086547 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.1160-15A>G single nucleotide variant Ornithine aminotransferase deficiency [RCV003858204] Chr10:124398117 [GRCh38]
Chr10:126086686 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.648+13C>T single nucleotide variant Ornithine aminotransferase deficiency [RCV003857174] Chr10:124405423 [GRCh38]
Chr10:126093992 [GRCh37]
Chr10:10q26.13		 likely benign
NM_000274.4(OAT):c.897C>T (p.Tyr299=) single nucleotide variant Ornithine aminotransferase deficiency [RCV003859673] Chr10:124402930 [GRCh38]
Chr10:126091499 [GRCh37]
Chr10:10q26.13		 likely benign
GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1 copy number loss not specified [RCV003986904] Chr10:125987494..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_000274.4(OAT):c.889G>T (p.Gly297Cys) single nucleotide variant Ornithine aminotransferase deficiency [RCV003988684] Chr10:124402938 [GRCh38]
Chr10:126091507 [GRCh37]
Chr10:10q26.13		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1157
Count of miRNA genes:669
Interacting mature miRNAs:747
Transcripts:ENST00000368845, ENST00000467675, ENST00000471127, ENST00000476917, ENST00000483711, ENST00000490096, ENST00000492376, ENST00000539214
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D10S1656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710126,101,782 - 126,101,929UniSTSGRCh37
Build 3610126,091,772 - 126,091,919RGDNCBI36
Celera10119,873,979 - 119,874,130RGD
Cytogenetic Map10q26UniSTS
HuRef10119,786,548 - 119,786,699UniSTS
Marshfield Genetic Map10149.25RGD
Marshfield Genetic Map10149.25UniSTS
Genethon Genetic Map10158.3UniSTS
deCODE Assembly Map10151.37UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH17677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710126,086,011 - 126,086,276UniSTSGRCh37
Build 3610126,076,001 - 126,076,266RGDNCBI36
Celera10119,858,212 - 119,858,477RGD
Cytogenetic Map10q26UniSTS
HuRef10119,770,780 - 119,771,045UniSTS
GeneMap99-GB4 RH Map10540.01UniSTS
NCBI RH Map101356.2UniSTS
GDB:682523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710126,086,271 - 126,086,420UniSTSGRCh37
Build 3610126,076,261 - 126,076,410RGDNCBI36
CeleraX56,466,353 - 56,466,505RGD
Celera10119,858,472 - 119,858,621UniSTS
Cytogenetic Map10q26UniSTS
HuRef10119,771,040 - 119,771,189UniSTS
HuRefX49,770,299 - 49,770,451UniSTS
RH1578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710126,086,121 - 126,086,309UniSTSGRCh37
Build 3610126,076,111 - 126,076,299RGDNCBI36
Celera10119,858,322 - 119,858,510RGD
Cytogenetic Map10q26UniSTS
HuRef10119,770,890 - 119,771,078UniSTS
GeneMap99-GB4 RH Map10545.19UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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 4 1 2 2
Medium 2424 2597 1648 549 1463 391 4327 1985 3673 392 1439 1603 171 1204 2760 4
Low 8 387 75 73 463 73 28 208 40 26 7 3 28
Below cutoff 10 6 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD104356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD683561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB459793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M62959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M88760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R37569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000368845   ⟹   ENSP00000357838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10124,397,303 - 124,418,923 (-)Ensembl
RefSeq Acc Id: ENST00000467675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10124,401,731 - 124,408,791 (-)Ensembl
RefSeq Acc Id: ENST00000471127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10124,398,021 - 124,403,336 (-)Ensembl
RefSeq Acc Id: ENST00000476917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10124,407,356 - 124,418,193 (-)Ensembl
RefSeq Acc Id: ENST00000483711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10124,403,845 - 124,405,929 (-)Ensembl
RefSeq Acc Id: ENST00000490096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10124,408,822 - 124,415,072 (-)Ensembl
RefSeq Acc Id: ENST00000492376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10124,408,893 - 124,414,436 (-)Ensembl
RefSeq Acc Id: ENST00000539214   ⟹   ENSP00000439042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10124,397,303 - 124,418,976 (-)Ensembl
RefSeq Acc Id: NM_000274   ⟹   NP_000265
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
GRCh3710126,085,872 - 126,107,545 (-)ENTREZGENE
Build 3610126,075,862 - 126,097,441 (-)NCBI Archive
HuRef10119,770,641 - 119,792,323 (-)ENTREZGENE
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171814   ⟹   NP_001165285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
GRCh3710126,085,872 - 126,107,545 (-)ENTREZGENE
HuRef10119,770,641 - 119,792,323 (-)ENTREZGENE
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322965   ⟹   NP_001309894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322966   ⟹   NP_001309895
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322967   ⟹   NP_001309896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322968   ⟹   NP_001309897
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322969   ⟹   NP_001309898
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322970   ⟹   NP_001309899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322971   ⟹   NP_001309900
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322974   ⟹   NP_001309903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,397,303 - 124,418,923 (-)NCBI
CHM1_110126,367,759 - 126,389,447 (-)NCBI
T2T-CHM13v2.010125,275,480 - 125,297,100 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000265 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165285 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309894 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309895 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309896 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309897 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309898 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309899 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309900 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309903 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36386 (Get FASTA)   NCBI Sequence Viewer  
  AAA59956 (Get FASTA)   NCBI Sequence Viewer  
  AAA59958 (Get FASTA)   NCBI Sequence Viewer  
  AAA59959 (Get FASTA)   NCBI Sequence Viewer  
  AAB20297 (Get FASTA)   NCBI Sequence Viewer  
  AAB20298 (Get FASTA)   NCBI Sequence Viewer  
  AAH00964 (Get FASTA)   NCBI Sequence Viewer  
  AAH16928 (Get FASTA)   NCBI Sequence Viewer  
  AEE61041 (Get FASTA)   NCBI Sequence Viewer  
  BAD92054 (Get FASTA)   NCBI Sequence Viewer  
  BAG35458 (Get FASTA)   NCBI Sequence Viewer  
  BAH12241 (Get FASTA)   NCBI Sequence Viewer  
  BAH14318 (Get FASTA)   NCBI Sequence Viewer  
  CAA68809 (Get FASTA)   NCBI Sequence Viewer  
  CAG33326 (Get FASTA)   NCBI Sequence Viewer  
  CAH18668 (Get FASTA)   NCBI Sequence Viewer  
  EAW49271 (Get FASTA)   NCBI Sequence Viewer  
  EAW49272 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000357838
  ENSP00000357838.5
  ENSP00000439042
  ENSP00000439042.1
GenBank Protein P04181 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001165285   ⟸   NM_001171814
- Peptide Label: isoform 2
- UniProtKB: Q59HE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000265   ⟸   NM_000274
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6IAV9 (UniProtKB/Swiss-Prot),   Q68CS0 (UniProtKB/Swiss-Prot),   Q16069 (UniProtKB/Swiss-Prot),   Q16068 (UniProtKB/Swiss-Prot),   D3DRF0 (UniProtKB/Swiss-Prot),   Q9UD03 (UniProtKB/Swiss-Prot),   P04181 (UniProtKB/Swiss-Prot),   A0A140VJQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309894   ⟸   NM_001322965
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6IAV9 (UniProtKB/Swiss-Prot),   Q68CS0 (UniProtKB/Swiss-Prot),   Q16069 (UniProtKB/Swiss-Prot),   Q16068 (UniProtKB/Swiss-Prot),   D3DRF0 (UniProtKB/Swiss-Prot),   Q9UD03 (UniProtKB/Swiss-Prot),   P04181 (UniProtKB/Swiss-Prot),   A0A140VJQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309903   ⟸   NM_001322974
- Peptide Label: isoform 4
- UniProtKB: Q59HE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309900   ⟸   NM_001322971
- Peptide Label: isoform 3
- UniProtKB: Q59HE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309898   ⟸   NM_001322969
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6IAV9 (UniProtKB/Swiss-Prot),   Q68CS0 (UniProtKB/Swiss-Prot),   Q16069 (UniProtKB/Swiss-Prot),   Q16068 (UniProtKB/Swiss-Prot),   D3DRF0 (UniProtKB/Swiss-Prot),   Q9UD03 (UniProtKB/Swiss-Prot),   P04181 (UniProtKB/Swiss-Prot),   A0A140VJQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309895   ⟸   NM_001322966
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6IAV9 (UniProtKB/Swiss-Prot),   Q68CS0 (UniProtKB/Swiss-Prot),   Q16069 (UniProtKB/Swiss-Prot),   Q16068 (UniProtKB/Swiss-Prot),   D3DRF0 (UniProtKB/Swiss-Prot),   Q9UD03 (UniProtKB/Swiss-Prot),   P04181 (UniProtKB/Swiss-Prot),   A0A140VJQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309896   ⟸   NM_001322967
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6IAV9 (UniProtKB/Swiss-Prot),   Q68CS0 (UniProtKB/Swiss-Prot),   Q16069 (UniProtKB/Swiss-Prot),   Q16068 (UniProtKB/Swiss-Prot),   D3DRF0 (UniProtKB/Swiss-Prot),   Q9UD03 (UniProtKB/Swiss-Prot),   P04181 (UniProtKB/Swiss-Prot),   A0A140VJQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309897   ⟸   NM_001322968
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6IAV9 (UniProtKB/Swiss-Prot),   Q68CS0 (UniProtKB/Swiss-Prot),   Q16069 (UniProtKB/Swiss-Prot),   Q16068 (UniProtKB/Swiss-Prot),   D3DRF0 (UniProtKB/Swiss-Prot),   Q9UD03 (UniProtKB/Swiss-Prot),   P04181 (UniProtKB/Swiss-Prot),   A0A140VJQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309899   ⟸   NM_001322970
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6IAV9 (UniProtKB/Swiss-Prot),   Q68CS0 (UniProtKB/Swiss-Prot),   Q16069 (UniProtKB/Swiss-Prot),   Q16068 (UniProtKB/Swiss-Prot),   D3DRF0 (UniProtKB/Swiss-Prot),   Q9UD03 (UniProtKB/Swiss-Prot),   P04181 (UniProtKB/Swiss-Prot),   A0A140VJQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000439042   ⟸   ENST00000539214
RefSeq Acc Id: ENSP00000357838   ⟸   ENST00000368845

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04181-F1-model_v2 AlphaFold P04181 1-439 view protein structure

Promoters
RGD ID:7218911
Promoter ID:EPDNEW_H15201
Type:initiation region
Name:OAT_1
Description:ornithine aminotransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15203  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,418,923 - 124,418,983EPDNEW
RGD ID:7218913
Promoter ID:EPDNEW_H15203
Type:initiation region
Name:OAT_2
Description:ornithine aminotransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15201  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810124,419,205 - 124,419,265EPDNEW
RGD ID:6787942
Promoter ID:HG_KWN:11537
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000050864
Position:
Human AssemblyChrPosition (strand)Source
Build 3610126,081,934 - 126,082,434 (-)MPROMDB
RGD ID:6787943
Promoter ID:HG_KWN:11543
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat
Transcripts:OTTHUMT00000050869
Position:
Human AssemblyChrPosition (strand)Source
Build 3610126,097,236 - 126,097,736 (-)MPROMDB
RGD ID:6787944
Promoter ID:HG_KWN:11544
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_000274,   NM_001171814,   UC001LHQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3610126,097,239 - 126,097,739 (-)MPROMDB
RGD ID:6849750
Promoter ID:EP30056
Type:single initiation site
Name:HS_OAT
Description:Ornithine aminotransferase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 215; Mammalalian ornithine aminotransferase.
Experiment Methods:Nuclease protection; Primer extension; NEDO full length human cDNA sequencing project.; Oligo-capping
Regulation:most tissues; (modulated by) hormones
Position:
Human AssemblyChrPosition (strand)Source
Build 3610126,097,482 - 126,097,542EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8091 AgrOrtholog
COSMIC OAT COSMIC
Ensembl Genes ENSG00000065154 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368845 ENTREZGENE
  ENST00000368845.6 UniProtKB/Swiss-Prot
  ENST00000539214 ENTREZGENE
  ENST00000539214.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000065154 GTEx
HGNC ID HGNC:8091 ENTREZGENE
Human Proteome Map OAT Human Proteome Map
InterPro Aminotrans_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotrans_3_PPA_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orn_aminotrans 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
KEGG Report hsa:4942 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4942 ENTREZGENE
OMIM 613349 OMIM
PANTHER AMINOTRANSFERASE CLASS III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORNITHINE AMINOTRANSFERASE, MITOCHONDRIAL UniProtKB/Swiss-Prot
  ORNITHINE AMINOTRANSFERASE, MITOCHONDRIAL UniProtKB/TrEMBL
  ORNITHINE AMINOTRANSFERASE, MITOCHONDRIAL UniProtKB/TrEMBL
Pfam Aminotran_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31880 PharmGKB
PIRSF Transaminase_4ab_Lys_Orn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRANSFER_CLASS_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJQ4 ENTREZGENE, UniProtKB/TrEMBL
  D3DRF0 ENTREZGENE
  OAT_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16068 ENTREZGENE
  Q16069 ENTREZGENE
  Q59HE2 ENTREZGENE, UniProtKB/TrEMBL
  Q68CS0 ENTREZGENE
  Q6IAV9 ENTREZGENE
  Q9UD03 ENTREZGENE
UniProt Secondary D3DRF0 UniProtKB/Swiss-Prot
  Q16068 UniProtKB/Swiss-Prot
  Q16069 UniProtKB/Swiss-Prot
  Q68CS0 UniProtKB/Swiss-Prot
  Q6IAV9 UniProtKB/Swiss-Prot
  Q9UD03 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 OAT  ornithine aminotransferase  OAT  ornithine aminotransferase (gyrate atrophy)  Symbol and/or name change 5135510 APPROVED